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
SAMHD1	25939	broad.mit.edu	37	20	35540893	35540893	+	Silent	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr20:35540893T>C	ENST00000262878.4	-	10	1324	c.1125A>G	c.(1123-1125)caA>caG	p.Q375Q	SAMHD1_ENST00000373694.5_Silent_p.Q160Q	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	375					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				CAACTTTGTGTTGATAAGCTC	0.353000													5	12					0	0	0.000602	0	0
NES	10763	broad.mit.edu	37	1	156640063	156640063	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:156640063C>A	ENST00000368223.3	-	4	4049	c.3917G>T	c.(3916-3918)aGg>aTg	p.R1306M		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1306	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGTGGGGGACCTGAGGTAGAA	0.662000													28	69					1.75199e-13	2.52706e-13	0.007291	1	0
NAV3	89795	broad.mit.edu	37	12	78510663	78510663	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:78510663C>A	ENST00000397909.2	+	13	2921	c.2748C>A	c.(2746-2748)gtC>gtA	p.V916V	NAV3_ENST00000266692.7_Silent_p.V916V|NAV3_ENST00000228327.6_Silent_p.V916V|NAV3_ENST00000536525.2_Silent_p.V916V			Q8IVL0	NAV3_HUMAN	neuron navigator 3	916						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						ACATCACCGTCCCCTCTAGGA	0.433000										HNSCC(70;0.22)			45	55					4.75955e-12	6.59176e-12	0.003610	1	0
CPD	1362	broad.mit.edu	37	17	28758816	28758816	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:28758816G>C	ENST00000225719.4	+	8	2120	c.2044G>C	c.(2044-2046)Gat>Cat	p.D682H	CPD_ENST00000543464.2_Missense_Mutation_p.D435H	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	682	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CTACCCTTTTGATGATGATGA	0.353000													8	32					0	0	0.003080	0	0
BRINP1	1620	broad.mit.edu	37	9	121971074	121971074	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr9:121971074G>T	ENST00000265922.3	-	7	1529	c.1068C>A	c.(1066-1068)atC>atA	p.I356I	DBC1_ENST00000482797.1_5'UTR	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		356					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CAGTGCGTTGGATCTTTTGTC	0.577000													32	17					6.38683e-12	8.8357e-12	0.008361	1	0
ANLN	54443	broad.mit.edu	37	7	36438854	36438854	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:36438854C>T	ENST00000265748.2	+	3	560	c.339C>T	c.(337-339)atC>atT	p.I113I	ANLN_ENST00000396068.2_Silent_p.I113I	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	113	Interaction with CD2AP.|Nuclear localization.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CAGATACCATCAGTGATTCTG	0.488000													18	26					0	0	0.006122	0	0
SPTBN1	6711	broad.mit.edu	37	2	54858121	54858121	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:54858121G>T	ENST00000333896.5	+	15	3283	c.2898G>T	c.(2896-2898)gaG>gaT	p.E966D	SPTBN1_ENST00000356805.4_Missense_Mutation_p.E979D	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	979					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGGTCATCGAGTCCACCCAGG	0.582000													16	16					6.31663e-08	7.85344e-08	0.003163	1	0
DOCK10	55619	broad.mit.edu	37	2	225652116	225652116	+	Splice_Site	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:225652116T>A	ENST00000409592.3	-	49	5514		c.e49-2		DOCK10_ENST00000258390.7_Splice_Site			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10								GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CAGGATATTCTGCAATTCCCC	0.433000													57	132					0	0	0.003610	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122349007	122349007	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:122349007C>A	ENST00000398250.1	+	7	1161	c.809C>A	c.(808-810)cCg>cAg	p.P270Q	PPAPDC1A_ENST00000398248.1_3'UTR|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.P207Q|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.P260Q	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	270					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		ACCGAAGGCCCGGTATGACCA	0.542000													18	21					1.45105e-14	2.17051e-14	0.006122	1	0
KIAA2022	340533	broad.mit.edu	37	X	73961650	73961650	+	Missense_Mutation	SNP	A	A	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chrX:73961650A>C	ENST00000373468.1	-	3	3393	c.2742T>G	c.(2740-2742)agT>agG	p.S914R	KIAA2022_ENST00000055682.5_Missense_Mutation_p.S914R			Q5QGS0	K2022_HUMAN	KIAA2022	914					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTCCAAATTCACTGGATTGGG	0.458000													13	19					0	0	0.002450	0	0
SYNPO	11346	broad.mit.edu	37	5	150036441	150036441	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:150036441G>T	ENST00000307662.4	+	3	3033	c.2504G>T	c.(2503-2505)tGc>tTc	p.C835F		NM_007286.5	NP_009217.3	Q8N3V7	SYNPO_HUMAN	synaptopodin	897	Pro-rich.				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTTCGTCCTGCACCAGTCCC	0.766000													5	2					0.000602214	0.000646077	0.000602	1	0
ABCA13	154664	broad.mit.edu	37	7	48563910	48563910	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:48563910G>T	ENST00000435803.1	+	54	14142	c.14118G>T	c.(14116-14118)aaG>aaT	p.K4706N	ABCA13_ENST00000544596.1_Missense_Mutation_p.K436N	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4706					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAGAGGAAAAGAGAGTGTTTG	0.383000													14	14					9.31168e-06	1.07251e-05	0.001855	1	0
TMPRSS12	283471	broad.mit.edu	37	12	51281254	51281254	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:51281254C>A	ENST00000398458.3	+	5	1037	c.1005C>A	c.(1003-1005)atC>atA	p.I335I	TMPRSS12_ENST00000551456.1_3'UTR	NM_182559.2	NP_872365.1	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	335					proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						GTGGCCAGATCCTCATAGCTT	0.363000													53	71					1.46156e-29	2.70291e-29	0.003610	1	0
TPH2	121278	broad.mit.edu	37	12	72388295	72388295	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:72388295G>A	ENST00000333850.3	+	8	1159	c.1018G>A	c.(1018-1020)Ggt>Agt	p.G340S		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	340					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	ACAAGAAATAGGTCTGGCGTC	0.413000													40	40					0	0	0.006230	0	0
GPR116	221395	broad.mit.edu	37	6	46826559	46826559	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:46826559C>A	ENST00000283296.7	-	17	3369	c.3081G>T	c.(3079-3081)ttG>ttT	p.L1027F	GPR116_ENST00000362015.4_Missense_Mutation_p.L1027F|GPR116_ENST00000545669.1_Missense_Mutation_p.L456F|GPR116_ENST00000456426.2_Missense_Mutation_p.L885F|GPR116_ENST00000265417.7_Missense_Mutation_p.L1027F	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1027					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GACAGGCTGCCAAGCTCAAGA	0.507000													30	5					5.60225e-13	7.9524e-13	0.009535	1	0
LPHN3	23284	broad.mit.edu	37	4	62542546	62542546	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:62542546G>T	ENST00000512091.1	+	5	1019	c.272G>T	c.(271-273)tGc>tTc	p.C91F	LPHN3_ENST00000508946.1_Missense_Mutation_p.C91F|LPHN3_ENST00000507625.1_Missense_Mutation_p.C159F|LPHN3_ENST00000506746.1_Missense_Mutation_p.C159F|LPHN3_ENST00000511324.1_Missense_Mutation_p.C159F|LPHN3_ENST00000508693.1_Missense_Mutation_p.C159F|LPHN3_ENST00000507164.1_Missense_Mutation_p.C159F|LPHN3_ENST00000506700.1_Missense_Mutation_p.C91F|LPHN3_ENST00000514157.1_Missense_Mutation_p.C91F|LPHN3_ENST00000545650.1_Missense_Mutation_p.C91F|LPHN3_ENST00000514996.1_Missense_Mutation_p.C91F|LPHN3_ENST00000504896.1_Missense_Mutation_p.C91F|LPHN3_ENST00000506720.1_Missense_Mutation_p.C159F|LPHN3_ENST00000514591.1_Missense_Mutation_p.C91F|LPHN3_ENST00000509896.1_Missense_Mutation_p.C159F			Q9HAR2	LPHN3_HUMAN	latrophilin 3	91	SUEL-type lectin.				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						GACTTCAGATGCAATAACAGA	0.368000													86	26					3.64303e-30	6.74714e-30	0.003610	1	0
OTOP2	92736	broad.mit.edu	37	17	72927022	72927022	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:72927022G>T	ENST00000331427.4	+	6	1384	c.1292G>T	c.(1291-1293)gGg>gTg	p.G431V	OTOP2_ENST00000580223.1_Missense_Mutation_p.G431V	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	431						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					GGACCGCCCGGGGCTGAGCCT	0.622000													23	71					2.52088e-20	4.21944e-20	0.002780	1	0
BTN2A3P	54718	broad.mit.edu	37	6	26431538	26431538	+	RNA	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:26431538C>G	ENST00000466808.2	+	0	1486																											GGGCTGGACACTTCACAGAGC	0.562000													48	14					0	0	0.013114	0	0
RTN4RL1	146760	broad.mit.edu	37	17	1840431	1840431	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:1840431A>G	ENST00000331238.5	-	2	703	c.685T>C	c.(685-687)Ttc>Ctc	p.F229L		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1	229					axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						CTGTTGTTGAAGAGGAAGAGG	0.642000													5	17					0	0	0.000602	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24465654	24465654	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr13:24465654G>T	ENST00000382137.3	-	3	844	c.776C>A	c.(775-777)tCc>tAc	p.S259Y	C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.S259Y|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B-AS1_ENST00000417034.1_RNA	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	259	C1q.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						AACATTCCTGGAGAAAACAGT	0.453000													10	77					9.31168e-06	1.07251e-05	0.001855	1	0
SLIT3	6586	broad.mit.edu	37	5	168096807	168096807	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:168096807G>A	ENST00000519560.1	-	35	4736	c.4317C>T	c.(4315-4317)agC>agT	p.S1439S	SLIT3_ENST00000332966.8_Silent_p.S1446S|SLIT3_ENST00000404867.3_Silent_p.S1439S	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1439	EGF-like 9.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTGCTCGCCGCTAAAGCCGG	0.582000													9	15					0	0	0.004482	0	0
NEK8	284086	broad.mit.edu	37	17	27065225	27065225	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:27065225A>T	ENST00000268766.6	+	8	1218	c.1184A>T	c.(1183-1185)cAc>cTc	p.H395L	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	395						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					ACCATCAAGCACGTGGCCTGT	0.627000													16	42					0	0	0.008871	0	0
SBNO1	55206	broad.mit.edu	37	12	123801821	123801821	+	Missense_Mutation	SNP	A	A	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:123801821A>C	ENST00000420886.2	-	20	2881	c.2882T>G	c.(2881-2883)gTt>gGt	p.V961G	SBNO1_ENST00000602398.1_Missense_Mutation_p.V961G|SBNO1_ENST00000267176.4_Missense_Mutation_p.V960G|SBNO1_ENST00000602750.1_Missense_Mutation_p.V960G	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	961							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		AGTCATATGAACTCTTCGCCT	0.383000													11	58					0	0	0.008291	0	0
SLC15A1	6564	broad.mit.edu	37	13	99354750	99354750	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr13:99354750C>A	ENST00000376503.5	-	18	1505	c.1450G>T	c.(1450-1452)Ggg>Tgg	p.G484W		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	484					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	CCATTTTCCCCTTTTTCTGGC	0.289000													9	16					0.000274275	0.000296796	0.004482	1	0
OR10S1	219873	broad.mit.edu	37	11	123847819	123847819	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:123847819C>A	ENST00000531945.1	-	1	669	c.580G>T	c.(580-582)Gac>Tac	p.D194Y		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D194N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		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)		GGGGGTATGTCGCAGAAGAAG	0.567000													36	27					7.11191e-15	1.07149e-14	0.002836	1	0
ASIC2	40	broad.mit.edu	37	17	31618776	31618776	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:31618776C>T	ENST00000225823.2	-	1	1230	c.358G>A	c.(358-360)Gtg>Atg	p.V120M	ASIC2_ENST00000359872.6_Intron	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	76					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	TCGCGGTGCACCCGCGTGTGT	0.642000													8	29					0	0	0.003080	0	0
ADCY1	107	broad.mit.edu	37	7	45701758	45701758	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:45701758T>A	ENST00000297323.7	+	8	1572	c.1550T>A	c.(1549-1551)aTg>aAg	p.M517K	ADCY1_ENST00000432715.1_Missense_Mutation_p.M292K	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	517	Interaction with calmodulin (By similarity).				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	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TGCCGGAAAATGTTCAAGGCC	0.532000													9	34					0	0	0.004482	0	0
OR2D2	120776	broad.mit.edu	37	11	6913706	6913706	+	Missense_Mutation	SNP	A	A	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:6913706A>C	ENST00000299459.2	-	1	124	c.26T>G	c.(25-27)gTg>gGg	p.V9G		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GAATTCTGTCACTTGTGTCTG	0.408000													13	21					0	0	0.001855	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834677	125834677	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:125834677G>T	ENST00000299308.3	+	2	740	c.732G>T	c.(730-732)tcG>tcT	p.S244S		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	244						integral to membrane		p.S244S(2)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ATATCCACTCGGGCCTGGAGA	0.592000													38	74					1.57351e-24	2.79043e-24	0.003755	1	0
POM121	9883	broad.mit.edu	37	7	72413237	72413237	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:72413237C>G	ENST00000395270.1	+	14	2951	c.1910C>G	c.(1909-1911)tCc>tGc	p.S637C	POM121_ENST00000358357.3_Missense_Mutation_p.S637C|POM121_ENST00000434423.2_Missense_Mutation_p.S902C|POM121_ENST00000446813.1_Missense_Mutation_p.S637C|POM121_ENST00000257622.4_Missense_Mutation_p.S637C	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	902	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TTCAGCCAGTCCCTGCACACT	0.647000													32	232					0	0	0.002836	0	0
FAM71C	196472	broad.mit.edu	37	12	100042540	100042540	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:100042540G>A	ENST00000324341.1	+	1	1010	c.588G>A	c.(586-588)gtG>gtA	p.V196V	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	196										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		ACTCATCTGTGTTGGAGGAAG	0.517000													19	21					0	0	0.007413	0	0
ANLN	54443	broad.mit.edu	37	7	36438851	36438851	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:36438851C>T	ENST00000265748.2	+	3	557	c.336C>T	c.(334-336)acC>acT	p.T112T	ANLN_ENST00000396068.2_Silent_p.T112T	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	112	Interaction with CD2AP.|Nuclear localization.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CAGCAGATACCATCAGTGATT	0.478000													19	25					0	0	0.006122	0	0
FN1	2335	broad.mit.edu	37	2	216248813	216248813	+	Silent	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:216248813A>T	ENST00000354785.4	-	30	5193	c.4824T>A	c.(4822-4824)acT>acA	p.T1608T	FN1_ENST00000323926.6_Silent_p.T1608T|FN1_ENST00000446046.1_Silent_p.T1517T|FN1_ENST00000443816.1_Silent_p.T1517T|FN1_ENST00000432072.2_Silent_p.T1608T|FN1_ENST00000421182.1_Silent_p.T1517T|FN1_ENST00000359671.1_Silent_p.T1517T|FN1_ENST00000357867.4_Silent_p.T1517T|FN1_ENST00000357009.2_Silent_p.T1517T|FN1_ENST00000356005.4_Silent_p.T1517T|FN1_ENST00000346544.3_Silent_p.T1517T|FN1_ENST00000345488.5_Silent_p.T1517T|FN1_ENST00000336916.4_Silent_p.T1517T			P02751	FINC_HUMAN	fibronectin 1	1611	Fibronectin type-III 11.				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)	CAGCATACACAGTGATGGTAT	0.507000													25	62					0	0	0.004656	0	0
DLG2	1740	broad.mit.edu	37	11	84245718	84245718	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:84245718G>T	ENST00000398309.2	-	2	569	c.99C>A	c.(97-99)acC>acA	p.T33T	DLG2_ENST00000543673.1_Silent_p.T138T|DLG2_ENST00000532653.1_Silent_p.T33T|DLG2_ENST00000376104.2_Silent_p.T138T|DLG2_ENST00000524982.1_Silent_p.T33T	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	33						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TTACTTCGTGGGTTAGTCGAG	0.403000													45	46					1.52319e-26	2.75184e-26	0.008740	1	0
ATXN2L	11273	broad.mit.edu	37	16	28842109	28842109	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr16:28842109G>T	ENST00000336783.4	+	9	1375	c.1208G>T	c.(1207-1209)gGa>gTa	p.G403V	ATXN2L_ENST00000570200.1_Missense_Mutation_p.G403V|ATXN2L_ENST00000564304.1_Missense_Mutation_p.G403V|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_Missense_Mutation_p.G403V|ATXN2L_ENST00000382686.4_Missense_Mutation_p.G403V|ATXN2L_ENST00000325215.6_Missense_Mutation_p.G403V|ATXN2L_ENST00000340394.8_Missense_Mutation_p.G403V	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	403						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GGTATCAATGGAGGTGAGTTA	0.602000													12	25					3.07112e-06	3.60698e-06	0.010729	1	0
ERBB2IP	55914	broad.mit.edu	37	5	65321770	65321770	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:65321770G>T	ENST00000284037.5	+	12	1374	c.985G>T	c.(985-987)Gct>Tct	p.A329S	ERBB2IP_ENST00000380936.1_Missense_Mutation_p.A329S|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.A329S|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.A329S|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.A329S|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.A329S|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.A329S|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.A329S|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.A329S|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.A329S	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	329					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AACTTTTGCTGCTGATCATAA	0.318000													3	11					1.23904e-05	1.41928e-05	0.000602	1	0
PC	5091	broad.mit.edu	37	11	66636436	66636436	+	Splice_Site	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:66636436C>A	ENST00000393960.1	-	10	1185		c.e10-1		PC_ENST00000393958.2_Splice_Site|PC_ENST00000393955.2_Splice_Site|PC_ENST00000524491.1_Splice_Site|PC_ENST00000355677.3_Splice_Site	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase						gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CGTAGCCCACCTGTGGGGGCG	0.647000													42	55					1.59932e-28	2.936e-28	0.007835	1	0
OR4L1	122742	broad.mit.edu	37	14	20529044	20529044	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr14:20529044T>A	ENST00000315683.1	+	1	841	c.841T>A	c.(841-843)Tta>Ata	p.L281I		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TATCACACCCTTACTGAATCC	0.353000													9	21					0	0	0.001368	0	0
RAB19	401409	broad.mit.edu	37	7	140125837	140125837	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:140125837G>A	ENST00000275874.5	+	5	880	c.682G>A	c.(682-684)Gcg>Acg	p.A228T	RAB19_ENST00000537763.1_Missense_Mutation_p.A181T|RAB19_ENST00000356407.3_Missense_Mutation_p.A181T			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	181					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					GGAGCTGATCGCGCGCAACAG	0.572000													21	67					0	0	0.008871	0	0
C1orf50	79078	broad.mit.edu	37	1	43241011	43241011	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:43241011G>T	ENST00000372525.5	+	5	589	c.546G>T	c.(544-546)caG>caT	p.Q182H	C1orf50_ENST00000536543.1_5'UTR|C1orf50_ENST00000468913.2_3'UTR	NM_024097.3	NP_077002.2	Q9BV19	CA050_HUMAN	chromosome 1 open reading frame 50	182										large_intestine(2)|ovary(1)|pancreas(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGCTAAGCCAGTCAGTGGCCC	0.517000													50	11					9.52127e-25	1.69327e-24	0.003610	1	0
DNASE1L3	1776	broad.mit.edu	37	3	58190582	58190582	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:58190582C>T	ENST00000483681.1	-	6	928	c.347G>A	c.(346-348)aGt>aAt	p.S116N	DNASE1L3_ENST00000486455.1_Missense_Mutation_p.S86N|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.S116N|DNASE1L3_ENST00000394549.2_Missense_Mutation_p.S116N			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	116					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)		GTAGTGATAACTCCTCTTCAC	0.478000													15	9					0	0	0.003163	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711781	155711781	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:155711781C>A	ENST00000295101.2	+	3	1939	c.1462C>A	c.(1462-1464)Ctt>Att	p.L488I		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	488					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GGAAGGGAACCTTCCAGCCAA	0.413000													9	17					0.00448238	0.00471592	0.004482	1	0
SORCS1	114815	broad.mit.edu	37	10	108434840	108434840	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:108434840A>T	ENST00000263054.6	-	14	1914	c.1907T>A	c.(1906-1908)cTg>cAg	p.L636Q	SORCS1_ENST00000369698.1_Missense_Mutation_p.L171Q|SORCS1_ENST00000344440.6_Missense_Mutation_p.L636Q	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	636						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)		AGGCTCACCCAGAACCCCATC	0.373000													24	32					0	0	0.007291	0	0
MARCH11	441061	broad.mit.edu	37	5	16067809	16067809	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:16067809G>T	ENST00000332432.8	-	4	1179	c.980C>A	c.(979-981)gCc>gAc	p.A327D		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	327						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						GATGTCTGTGGCTTTGTCATA	0.468000													35	53					9.78485e-24	1.72544e-23	0.002836	1	0
SCN8A	6334	broad.mit.edu	37	12	52163671	52163671	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:52163671C>A	ENST00000354534.5	+	18	3570	c.3392C>A	c.(3391-3393)tCc>tAc	p.S1131Y	SCN8A_ENST00000545061.1_Missense_Mutation_p.S1131Y	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1131					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GACACCAGCTCCTCTGAAGGA	0.512000													6	7					2.0095e-06	2.38926e-06	0.001984	1	0
GABRB2	2561	broad.mit.edu	37	5	160761777	160761777	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:160761777C>A	ENST00000274547.2	-	8	1031	c.814G>T	c.(814-816)Gct>Tct	p.A272S	GABRB2_ENST00000520240.1_Missense_Mutation_p.A272S|GABRB2_ENST00000517547.1_Missense_Mutation_p.A112S|GABRB2_ENST00000353437.6_Missense_Mutation_p.A272S|GABRB2_ENST00000517901.1_Missense_Mutation_p.A209S|GABRB2_ENST00000393959.1_Missense_Mutation_p.A272S	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	272					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ACCCTTGCAGCTGAAGCATCG	0.438000													19	10					4.96729e-08	6.18811e-08	0.008871	1	0
SNX19	399979	broad.mit.edu	37	11	130781541	130781541	+	Silent	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:130781541T>C	ENST00000265909.4	-	2	2369	c.1800A>G	c.(1798-1800)cgA>cgG	p.R600R	SNX19_ENST00000533214.1_Silent_p.R600R|SNX19_ENST00000528555.1_5'UTR|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000539184.1_Silent_p.R43R|SNX19_ENST00000530356.1_5'UTR	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	600	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TGATGAACTTTCGTAGATCTG	0.562000													21	35					0	0	0.010504	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51628390	51628390	+	Silent	SNP	T	T	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:51628390T>G	ENST00000440804.3	+	1	226	c.159T>G	c.(157-159)ccT>ccG	p.P53P	SIGLEC9_ENST00000250360.3_Silent_p.P53P	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	53	Ig-like V-type.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GGATTTACCCTGGCCCAGTAG	0.587000													40	4					0	0	0.006999	0	0
LACTB2	51110	broad.mit.edu	37	8	71556426	71556426	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:71556426C>G	ENST00000276590.4	-	4	502	c.466G>C	c.(466-468)Gag>Cag	p.E156Q	RP11-382J12.1_ENST00000518553.1_Intron|RP11-382J12.1_ENST00000499227.2_Intron|LACTB2_ENST00000517601.1_5'UTR|LACTB2_ENST00000522447.1_Missense_Mutation_p.E156Q	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	lactamase, beta 2	156							hydrolase activity|metal ion binding			endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GCATTTTCCTCTTCTAAGAGT	0.368000													47	350					0	0	0.003610	0	0
CHIT1	1118	broad.mit.edu	37	1	203192738	203192738	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:203192738G>T	ENST00000367229.1	-	5	399	c.365C>A	c.(364-366)tCg>tAg	p.S122*	CHIT1_ENST00000535569.1_Nonsense_Mutation_p.S113*|CHIT1_ENST00000255427.3_Nonsense_Mutation_p.S103*|CHIT1_ENST00000484834.1_5'UTR	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	122					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CCTGATGGCCGAGTTGACAAA	0.577000													29	103					4.59853e-10	6.0413e-10	0.005443	1	0
METTL16	79066	broad.mit.edu	37	17	2381013	2381013	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:2381013C>T	ENST00000263092.5	-	3	422	c.295G>A	c.(295-297)Gac>Aac	p.D99N	METTL16_ENST00000571669.1_5'UTR|METTL16_ENST00000538844.1_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	99							methyltransferase activity			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						GTACTTTTGTCAGAATCCTGG	0.358000													19	53					0	0	0.007413	0	0
HSD3B7	80270	broad.mit.edu	37	16	30998017	30998017	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr16:30998017G>T	ENST00000262520.6	+	5	813	c.523G>T	c.(523-525)Ggg>Tgg	p.G175W	HSD3B7_ENST00000297679.5_Missense_Mutation_p.G175W|HSD3B7_ENST00000353250.5_Missense_Mutation_p.G175W	NM_001142777.1	NP_001136249.1	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	175					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGAGGCCAACGGGAGGAAGGT	0.657000													25	43					1.96895e-08	2.4825e-08	0.002780	1	0
FCAR	2204	broad.mit.edu	37	19	55399576	55399576	+	Silent	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:55399576A>T	ENST00000355524.3	+	4	574	c.564A>T	c.(562-564)tcA>tcT	p.S188S	FCAR_ENST00000391726.3_Intron|FCAR_ENST00000359272.4_Silent_p.S176S|FCAR_ENST00000391724.3_Silent_p.S176S|FCAR_ENST00000469767.1_Silent_p.S188S|FCAR_ENST00000391723.3_Silent_p.S176S|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000345937.4_Intron|FCAR_ENST00000353758.4_Silent_p.S79S|FCAR_ENST00000391725.3_Silent_p.S188S	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	188	Ig-like C2-type 2.				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		TCAATGTCTCAGGGATCTACA	0.557000													15	7					0	0	0.003163	0	0
OR4D11	219986	broad.mit.edu	37	11	59271345	59271345	+	Silent	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:59271345A>G	ENST00000313253.1	+	1	297	c.297A>G	c.(295-297)acA>acG	p.T99T		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						GCTGCATGACACAGATATTTC	0.473000													31	104					0	0	0.009535	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455382	187455382	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:187455382G>C	ENST00000307161.5	-	2	715	c.514C>G	c.(514-516)Ccg>Gcg	p.P172A	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	172					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	TAGATCCTCGGGTCGTACTGG	0.597000													17	13					0	0	0.006122	0	0
TRBV7-7	28591	broad.mit.edu	37	7	142120086	142120086	+	RNA	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:142120086G>T	ENST00000390377.1	-	0	80																											CTTTGTACCTGGGAGACTGGG	0.478000													9	37					7.48243e-07	9.04247e-07	0.006214	1	0
LRRC37A3	374819	broad.mit.edu	37	17	62865265	62865265	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:62865265G>A	ENST00000584306.1	-	8	3456	c.2926C>T	c.(2926-2928)Ctg>Ttg	p.L976L	LRRC37A3_ENST00000339474.5_Silent_p.L94L|LRRC37A3_ENST00000319651.5_Silent_p.L976L|LRRC37A3_ENST00000400877.3_Silent_p.L14L	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	976						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ACAGTTGTCAGAGGATTGTGA	0.299000													21	74					0	0	0.012319	0	0
PDE6A	5145	broad.mit.edu	37	5	149247310	149247310	+	Missense_Mutation	SNP	G	G	T	rs143080578		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:149247310G>T	ENST00000255266.5	-	19	2371	c.2252C>A	c.(2251-2253)aCg>aAg	p.T751K		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	751					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TTGCAGCACCGTGCGCTCCAG	0.557000													14	5					3.27435e-08	4.09539e-08	0.002450	1	0
TMEM225	338661	broad.mit.edu	37	11	123754046	123754046	+	Silent	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:123754046G>C	ENST00000375026.2	-	4	693	c.477C>G	c.(475-477)ctC>ctG	p.L159L		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	159						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TGCACTCTAGGAGAGAGAGGA	0.443000													6	23					0	0	0.001984	0	0
BEND4	389206	broad.mit.edu	37	4	42145613	42145613	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:42145613G>C	ENST00000502486.1	-	3	1465	c.886C>G	c.(886-888)Cca>Gca	p.P296A	BEND4_ENST00000504360.1_Missense_Mutation_p.P292A	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	296										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						GACGTTGCTGGGGAAGTCCAG	0.557000													6	5					0	0	0.001168	0	0
MUC5B	727897	broad.mit.edu	37	11	1263868	1263868	+	Missense_Mutation	SNP	A	A	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:1263868A>C	ENST00000447027.1	+	31	5825	c.5767A>C	c.(5767-5769)Act>Cct	p.T1923P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T1920P			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1920	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GACTGCGTCCACTGGATCCAC	0.647000													33	65					0	0	0.003755	0	0
CACNA1E	777	broad.mit.edu	37	1	181620493	181620493	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:181620493C>A	ENST00000526775.1	+	7	1136	c.971C>A	c.(970-972)gCc>gAc	p.A324D	CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367573.2_Missense_Mutation_p.A324D|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A324D|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A275D|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A275D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A324D	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	324					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCCTTAGGAGCCACCTGGAAT	0.448000													17	57					9.16793e-09	1.1653e-08	0.004990	1	0
MGAM	8972	broad.mit.edu	37	7	141730165	141730165	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:141730165G>A	ENST00000475668.2	+	11	1279	c.1225G>A	c.(1225-1227)Gtt>Att	p.V409I	MGAM_ENST00000549489.2_Missense_Mutation_p.V409I			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	409	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTTTCAGGATGTTCAGCATGC	0.338000													9	10					0	0	0.008291	0	0
MAP3K19	80122	broad.mit.edu	37	2	135781051	135781051	+	Missense_Mutation	SNP	G	G	T	rs146771223	by1000genomes	TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:135781051G>T	ENST00000392915.1	-	1	168	c.49C>A	c.(49-51)Ctt>Att	p.L17I	MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375845.3_Intron|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000315513.3_5'UTR					mitogen-activated protein kinase kinase kinase 19																		TTTCCCACAAGCCCAGTCCTA	0.458000													14	77					2.32078e-09	3.00478e-09	0.003163	1	0
MTHFR	4524	broad.mit.edu	37	1	11854864	11854864	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:11854864C>T	ENST00000376592.1	-	6	1216	c.1088G>A	c.(1087-1089)cGt>cAt	p.R363H	MTHFR_ENST00000376590.3_Missense_Mutation_p.R363H|MTHFR_ENST00000376583.3_Missense_Mutation_p.R404H|MTHFR_ENST00000376585.1_Missense_Mutation_p.R404H			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	363					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	p.R363H(1)		NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GAAGATGGGACGTACATCTTC	0.602000													35	69					0	0	0.003271	0	0
ADCY7	113	broad.mit.edu	37	16	50324465	50324465	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr16:50324465G>T	ENST00000394697.2	+	3	609	c.269G>T	c.(268-270)cGg>cTg	p.R90L	ADCY7_ENST00000538642.1_Missense_Mutation_p.R90L|ADCY7_ENST00000254235.3_Missense_Mutation_p.R90L|ADCY7_ENST00000537579.1_Missense_Mutation_p.R90L|ADCY7_ENST00000566433.2_Missense_Mutation_p.R90L|ADCY7_ENST00000564044.1_Intron			P51828	ADCY7_HUMAN	adenylate cyclase 7	90					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TGTCTCCTGCGGCGCTGGCTC	0.657000													41	9					1.32136e-16	2.08355e-16	0.008740	1	0
PRMT3	10196	broad.mit.edu	37	11	20409612	20409612	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:20409612G>T	ENST00000331079.6	+	2	293	c.76G>T	c.(76-78)Gac>Tac	p.D26Y	PRMT3_ENST00000437750.2_Intron	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	26							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						AGAACTGTCGGACAGCGGGGA	0.652000													10	19					7.48243e-07	9.04247e-07	0.006214	1	0
HS3ST2	9956	broad.mit.edu	37	16	22826281	22826281	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr16:22826281C>A	ENST00000261374.3	+	1	784	c.350C>A	c.(349-351)gCc>gAc	p.A117D		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	117						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TTGCCCCAAGCCCTCATTGTG	0.692000													12	18					0.00010058	0.000110948	0.001368	1	0
DOCK2	1794	broad.mit.edu	37	5	169174459	169174459	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:169174459C>T	ENST00000256935.8	+	23	2407	c.2327C>T	c.(2326-2328)tCc>tTc	p.S776F	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.S268F	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	776					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCTTTGAATCCATCAACAAT	0.378000													12	7					0	0	0.001855	0	0
NR0B1	190	broad.mit.edu	37	X	30322722	30322722	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chrX:30322722G>T	ENST00000378970.4	-	2	1621	c.1387C>A	c.(1387-1389)Ctg>Atg	p.L463M		NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	463	Ligand-binding (By similarity).				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)	AGCATTTCCAGCATCATATCA	0.443000													27	11					8.24728e-16	1.2795e-15	0.004656	1	0
OR5AP2	338675	broad.mit.edu	37	11	56409689	56409689	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:56409689T>A	ENST00000544374.1	-	1	258	c.230A>T	c.(229-231)gAt>gTt	p.D77V	OR5AP2_ENST00000302981.1_Missense_Mutation_p.D76V			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						GTAAGAGGCATCTACAAAAGA	0.448000													9	29					0	0	0.004482	0	0
ASTN1	460	broad.mit.edu	37	1	177030276	177030276	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:177030276T>A	ENST00000367654.2	-	2	422	c.409A>T	c.(409-411)Act>Tct	p.T137S	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.T137S|ASTN1_ENST00000367657.3_Missense_Mutation_p.T137S|ASTN1_ENST00000361833.2_Missense_Mutation_p.T137S			O14525	ASTN1_HUMAN	astrotactin 1	137					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGTTCTTCAGTGGGGTCTTGT	0.542000													93	72					0	0	0.003610	0	0
ALMS1	7840	broad.mit.edu	37	2	73680643	73680643	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:73680643G>T	ENST00000264448.6	+	8	7097	c.6986G>T	c.(6985-6987)aGg>aTg	p.R2329M	ALMS1_ENST00000377715.1_Missense_Mutation_p.R2329M|ALMS1_ENST00000409009.1_Missense_Mutation_p.R2287M	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2329					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						CCAAGCAGCAGGTGCATACAG	0.438000													17	21					4.7546e-09	6.0929e-09	0.004007	1	0
TRIM50	135892	broad.mit.edu	37	7	72738485	72738485	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:72738485C>A	ENST00000333149.2	-	2	501	c.301G>T	c.(301-303)Gag>Tag	p.E101*	TRIM50_ENST00000453152.1_Nonsense_Mutation_p.E101*|TRIM50_ENST00000493498.1_5'UTR	NM_178125.2	NP_835226.1	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	101						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						TGGTCCTTCTCGCAGAAAAGG	0.657000											OREG0018105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	71					1.26454e-06	1.52085e-06	0.005443	1	0
PLXNA4	91584	broad.mit.edu	37	7	132193098	132193098	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:132193098G>C	ENST00000359827.3	-	2	1317	c.355C>G	c.(355-357)Ctc>Gtc	p.L119V	PLXNA4_ENST00000423507.2_Missense_Mutation_p.L119V|PLXNA4_ENST00000378539.5_Missense_Mutation_p.L119V|PLXNA4_ENST00000321063.4_Missense_Mutation_p.L119V			Q9HCM2	PLXA4_HUMAN	plexin A4	119	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TAGTCTATGAGGAGCATCTTG	0.582000													15	39					0	0	0.004007	0	0
MYOF	26509	broad.mit.edu	37	10	95148894	95148894	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:95148894C>A	ENST00000371501.4	-	18	1596	c.1474G>T	c.(1474-1476)Gag>Tag	p.E492*	MYOF_ENST00000359263.4_Nonsense_Mutation_p.E492*|MYOF_ENST00000371502.4_Nonsense_Mutation_p.E492*|MYOF_ENST00000358334.5_Nonsense_Mutation_p.E479*			Q9NZM1	MYOF_HUMAN	myoferlin	492					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAGCCTACCTCTGTTTCTCCT	0.393000													12	15					2.68362e-12	3.74988e-12	0.001368	1	0
PXDNL	137902	broad.mit.edu	37	8	52366284	52366284	+	Silent	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:52366284A>T	ENST00000356297.4	-	10	1144	c.1044T>A	c.(1042-1044)acT>acA	p.T348T	PXDNL_ENST00000543296.1_Silent_p.T348T	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	348	Ig-like C2-type 2.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TACATTCCAAAGTTGTGCTGG	0.507000													10	106					0	0	0.008291	0	0
LAMA2	3908	broad.mit.edu	37	6	129419478	129419478	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:129419478C>A	ENST00000421865.2	+	4	606	c.557C>A	c.(556-558)aCt>aAt	p.T186N		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	186	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TATCCCCGCACTGGGCCACCG	0.443000													24	10					6.36457e-07	7.72885e-07	0.003954	1	0
PLOD2	5352	broad.mit.edu	37	3	145795655	145795655	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:145795655G>A	ENST00000282903.5	-	14	1734	c.1557C>T	c.(1555-1557)ccC>ccT	p.P519P	PLOD2_ENST00000360060.3_Intron|PLOD2_ENST00000494950.1_Silent_p.P464P|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000461497.1_Silent_p.P179P	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	500					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	aCACCTTTGGGGGGCTGAGCA	0.348000													20	66					0	0	0.010504	0	0
SCN1A	6323	broad.mit.edu	37	2	166909404	166909404	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:166909404A>T	ENST00000423058.2	-	5	669	c.652T>A	c.(652-654)Ttc>Atc	p.F218I	SCN1A_ENST00000375405.3_Missense_Mutation_p.F218I|SCN1A_ENST00000409050.1_Missense_Mutation_p.F218I|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.F218I|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	218						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGAACTCTGAATGTTCTCAAT	0.448000													8	27					0	0	0.004482	0	0
PSAP	5660	broad.mit.edu	37	10	73581676	73581676	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:73581676G>T	ENST00000394936.3	-	8	1013	c.866C>A	c.(865-867)tCc>tAc	p.S289Y	PSAP_ENST00000394934.1_Missense_Mutation_p.S291Y			P07602	SAP_HUMAN	prosaposin	289					glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						GACATTCTTGGAGGCCACTTT	0.557000													11	34					2.80697e-09	3.61929e-09	0.010729	1	0
PCDH10	57575	broad.mit.edu	37	4	134072994	134072994	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:134072994C>G	ENST00000264360.4	+	1	2525	c.1699C>G	c.(1699-1701)Caa>Gaa	p.Q567E		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	567	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q567E(2)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CATAGTGGATCAAAATGACAA	0.637000													43	8					0	0	0.008740	0	0
EDAR	10913	broad.mit.edu	37	2	109527314	109527314	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:109527314G>T	ENST00000409271.1	-	8	1187	c.744C>A	c.(742-744)ctC>ctA	p.L248L	EDAR_ENST00000258443.2_Intron|EDAR_ENST00000376651.1_Silent_p.L248L			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	217					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						AGGCTGGGGAGAGAGGAGGGA	0.662000													20	18					4.96729e-08	6.18811e-08	0.008871	1	0
CDH23	64072	broad.mit.edu	37	10	73551059	73551059	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:73551059C>T	ENST00000224721.6	+	46	6240	c.6235C>T	c.(6235-6237)Ctc>Ttc	p.L2079F		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2074	Cadherin 20.				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						CCCTGCCACCCTCACTGTCCA	0.637000													13	21					0	0	0.001855	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81065309	81065309	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:81065309G>T	ENST00000334512.5	+	21	2946	c.2374G>T	c.(2374-2376)Ggc>Tgc	p.G792C		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	792					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			TCTGCTGGAGGGCCTGGAGGT	0.607000													18	286					1.67942e-08	2.12601e-08	0.006122	1	0
AGRN	375790	broad.mit.edu	37	1	981235	981235	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:981235G>T	ENST00000379370.2	+	15	2709	c.2659G>T	c.(2659-2661)Ggc>Tgc	p.G887C		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	887	Laminin EGF-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCGTGCCCTGGGCCCCGCGGG	0.692000													47	34					2.77807e-22	4.81071e-22	0.013114	1	0
SPEG	10290	broad.mit.edu	37	2	220309648	220309648	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:220309648G>T	ENST00000312358.7	+	3	712	c.580G>T	c.(580-582)Gtc>Ttc	p.V194F	SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Missense_Mutation_p.V90F	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	194					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGGGCAGACGGTCCTGGAGCA	0.721000													28	57					8.58068e-18	1.3862e-17	0.007291	1	0
A2ML1	144568	broad.mit.edu	37	12	8995901	8995901	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:8995901T>A	ENST00000299698.7	+	12	1600	c.1420T>A	c.(1420-1422)Tat>Aat	p.Y474N		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	318						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						GCTGGTGGATTATTACATCGA	0.582000													77	14					0	0	0.003610	0	0
KCNH7	90134	broad.mit.edu	37	2	163374347	163374347	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:163374347C>G	ENST00000332142.5	-	4	884	c.785G>C	c.(784-786)aGa>aCa	p.R262T	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.R262T	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	262					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TTCCCTTGATCTGGAATGGGA	0.493000													17	65					0	0	0.004007	0	0
FANCL	55120	broad.mit.edu	37	2	58449132	58449132	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:58449132G>A	ENST00000402135.3	-	5	355	c.319C>T	c.(319-321)Cct>Tct	p.P107S	FANCL_ENST00000403676.1_Intron|FANCL_ENST00000403295.3_Missense_Mutation_p.P107S|FANCL_ENST00000481670.1_5'UTR|FANCL_ENST00000233741.4_Missense_Mutation_p.P107S|FANCL_ENST00000540646.1_Missense_Mutation_p.P107S	NM_001114636.1	NP_001108108.1	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	107					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						AACTGGGGAGGAGGAGGTAGT	0.363000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				10	19					0	0	0.001368	0	0
DHRS7C	201140	broad.mit.edu	37	17	9676190	9676190	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:9676190G>T	ENST00000330255.4	-	5	636	c.624C>A	c.(622-624)gcC>gcA	p.A208A	DHRS7C_ENST00000571134.1_Silent_p.A207A	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	208						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CCTCCACTTCGGCTCGGAGGC	0.587000													29	5					1.55811e-20	2.61495e-20	0.008361	1	0
ITGB7	3695	broad.mit.edu	37	12	53588066	53588066	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:53588066G>T	ENST00000267082.5	-	10	1455	c.1224C>A	c.(1222-1224)taC>taA	p.Y408*	ITGB7_ENST00000338737.4_Nonsense_Mutation_p.Y408*|ITGB7_ENST00000550743.2_Nonsense_Mutation_p.Y408*|ITGB7_ENST00000422257.3_Nonsense_Mutation_p.Y408*	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	408					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACTGGGATTCGTAAGAAATGT	0.557000													44	56					2.215e-12	3.1118e-12	0.011902	1	0
LARGE	9215	broad.mit.edu	37	22	34046644	34046644	+	Silent	SNP	G	G	A	rs140622529		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr22:34046644G>A	ENST00000354992.2	-	4	688	c.117C>T	c.(115-117)ccC>ccT	p.P39P	LARGE_ENST00000397394.2_Silent_p.P39P|LARGE_ENST00000402320.1_Silent_p.P39P|LARGE_ENST00000337431.2_Silent_p.P39P|LARGE_ENST00000462606.1_5'UTR|LARGE_ENST00000437602.2_Silent_p.P39P	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	39					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				ACAGAGACACGGGCTTTCCAT	0.622000													22	6					0	0	0.002299	0	0
DNAJB5	25822	broad.mit.edu	37	9	34993258	34993258	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr9:34993258G>T	ENST00000541010.1	+	1	3040	c.28G>T	c.(28-30)Ggg>Tgg	p.G10W	DNAJB5_ENST00000453597.3_Missense_Mutation_p.G124W|DNAJB5_ENST00000545841.1_Missense_Mutation_p.G10W|DNAJB5_ENST00000335998.3_Missense_Mutation_p.G44W|DNAJB5_ENST00000454002.2_Missense_Mutation_p.G82W|DNAJB5_ENST00000312316.5_Missense_Mutation_p.G10W			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	10	J.				protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			CAAGATTCTTGGGATCCCATC	0.493000													21	42					3.51602e-12	4.89661e-12	0.008871	1	0
CSMD3	114788	broad.mit.edu	37	8	113569102	113569102	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:113569102C>A	ENST00000297405.5	-	25	4368	c.4124G>T	c.(4123-4125)aGc>aTc	p.S1375I	CSMD3_ENST00000352409.3_Missense_Mutation_p.S1375I|CSMD3_ENST00000455883.2_Missense_Mutation_p.S1271I|CSMD3_ENST00000343508.3_Missense_Mutation_p.S1335I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1375	Sushi 7.					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						AATGATGGTGCTACCAGCAAA	0.468000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			39	75					1.47244e-24	2.61489e-24	0.006230	1	0
HAS1	3036	broad.mit.edu	37	19	52216862	52216862	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:52216862G>A	ENST00000540069.2	-	5	1612	c.1552C>T	c.(1552-1554)Cgc>Tgc	p.R518C	HAS1_ENST00000222115.1_Missense_Mutation_p.R519C|HAS1_ENST00000601714.1_Missense_Mutation_p.R526C			Q92839	HAS1_HUMAN	hyaluronan synthase 1	519					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GCTACGCTGCGGACCAGGCCC	0.741000													4	2					0	0	0.009096	0	0
FBN1	2200	broad.mit.edu	37	15	48740970	48740970	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr15:48740970C>A	ENST00000316623.5	-	46	6121	c.5666G>T	c.(5665-5667)tGc>tTc	p.C1889F		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1889	EGF-like 31; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CTTACCCAAGCACATGGTTTG	0.328000													8	6					2.17888e-05	2.47546e-05	0.006214	1	0
NBPF15	284565	broad.mit.edu	37	1	148594434	148594434	+	Missense_Mutation	SNP	G	G	A	rs143361250	byFrequency	TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:148594434G>A	ENST00000442702.2	+	21	2874	c.1807G>A	c.(1807-1809)Gtc>Atc	p.V603I	NBPF15_ENST00000369187.3_Missense_Mutation_p.V603I	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	603	NBPF 6.					cytoplasm				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					AGAGCCTGAAGTCTTACAGGA	0.458000													10	293					0	0	0.010729	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173848254	173848254	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:173848254G>T	ENST00000264111.6	+	11	1219	c.1032G>T	c.(1030-1032)gaG>gaT	p.E344D	RAPGEF4_ENST00000538974.1_Missense_Mutation_p.E174D|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.E125D|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.E192D|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.E201D|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.E345D|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.E192D|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.E345D			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	345					blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			ATGACCTAGAGATTATCTATG	0.393000													14	75					0.000151284	0.000166293	0.001855	1	0
SGIP1	84251	broad.mit.edu	37	1	67205120	67205120	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:67205120G>T	ENST00000371037.4	+	22	2211	c.2134G>T	c.(2134-2136)Gat>Tat	p.D712Y	SGIP1_ENST00000435165.2_Missense_Mutation_p.D217Y|SGIP1_ENST00000371035.3_Missense_Mutation_p.D502Y|SGIP1_ENST00000371036.3_Missense_Mutation_p.D514Y|SGIP1_ENST00000371039.1_Missense_Mutation_p.D515Y|SGIP1_ENST00000237247.6_Missense_Mutation_p.D743Y	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	712					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ATATAATACAGATGCAATGAC	0.542000													13	19					0.000151284	0.000166293	0.001855	1	0
TG	7038	broad.mit.edu	37	8	133941393	133941393	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:133941393C>A	ENST00000220616.4	+	23	4812	c.4772C>A	c.(4771-4773)tCc>tAc	p.S1591Y	TG_ENST00000377869.1_Missense_Mutation_p.S1534Y|TG_ENST00000542445.1_Missense_Mutation_p.S25Y	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1591					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)		GCTGTCAGATCCAAAGTTCCT	0.453000													14	84					2.31682e-05	2.62266e-05	0.003163	1	0
COX19	90639	broad.mit.edu	37	7	1015098	1015098	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:1015098G>A	ENST00000344111.3	-	1	137	c.48C>T	c.(46-48)ccC>ccT	p.P16P		NM_001031617.2	NP_001026788.1	Q49B96	COX19_HUMAN	cytochrome c oxidase assembly homolog 19 (S. cerevisiae)	16						cytosol				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15)		CCTTGTCCGGGGGCCGCGGCT	0.701000													5	21					0	0	0.000602	0	0
RELN	5649	broad.mit.edu	37	7	103252090	103252090	+	Missense_Mutation	SNP	T	T	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:103252090T>G	ENST00000424685.2	-	21	3022	c.2863A>C	c.(2863-2865)Aac>Cac	p.N955H	RELN_ENST00000428762.1_Missense_Mutation_p.N955H|RELN_ENST00000343529.5_Missense_Mutation_p.N955H			P78509	RELN_HUMAN	reelin	955					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)		AGGCCGTGGTTGGTTGAGTAC	0.458000													15	7					0	0	0.002450	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125547669	125547669	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:125547669C>T	ENST00000431078.1	+	18	3304	c.2940C>T	c.(2938-2940)taC>taT	p.Y980Y		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	980	EGF-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACAATGGCTACCTGTGTGATT	0.547000													13	19					0	0	0.001855	0	0
TFAP2D	83741	broad.mit.edu	37	6	50683293	50683293	+	Silent	SNP	G	G	T	rs111415362		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:50683293G>T	ENST00000008391.3	+	2	732	c.504G>T	c.(502-504)ctG>ctT	p.L168L		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	168							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					GGCCCAGCCTGGGGCTGGCCG	0.622000													53	63					6.56871e-35	1.24985e-34	0.003610	1	0
PRKAA2	5563	broad.mit.edu	37	1	57159456	57159456	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:57159456C>T	ENST00000371244.4	+	5	560	c.494C>T	c.(493-495)tCa>tTa	p.S165L		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	165	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						AATATGATGTCAGATGGTGAA	0.313000													18	30					0	0	0.006122	0	0
DCN	1634	broad.mit.edu	37	12	91572284	91572284	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:91572284C>T	ENST00000551354.1	-	2	250	c.46G>A	c.(46-48)Gct>Act	p.A16T	DCN_ENST00000550099.1_Missense_Mutation_p.A16T|DCN_ENST00000546745.1_Missense_Mutation_p.A16T|DCN_ENST00000228329.5_Missense_Mutation_p.A16T|DCN_ENST00000420120.2_Missense_Mutation_p.A16T|DCN_ENST00000393155.1_Missense_Mutation_p.A16T|DCN_ENST00000303320.3_Missense_Mutation_p.A16T|DCN_ENST00000456569.2_Missense_Mutation_p.A16T|DCN_ENST00000052754.5_Missense_Mutation_p.A16T|DCN_ENST00000552962.1_Missense_Mutation_p.A16T|DCN_ENST00000441303.2_Missense_Mutation_p.A16T|DCN_ENST00000425043.1_Missense_Mutation_p.A16T|DCN_ENST00000546370.1_Missense_Mutation_p.A16T|DCN_ENST00000547568.2_Missense_Mutation_p.A16T			P07585	PGS2_HUMAN	decorin	16					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						AACGGTCCAGCCCAGGAAACT	0.463000											OREG0022021	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	49					0	0	0.003330	0	0
SCN9A	6335	broad.mit.edu	37	2	167134813	167134813	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:167134813C>A	ENST00000375387.4	-	15	2697	c.2357G>T	c.(2356-2358)gGa>gTa	p.G786V	SCN9A_ENST00000303354.6_Missense_Mutation_p.G786V|SCN9A_ENST00000409672.1_Missense_Mutation_p.G774V|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.G785V			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	785						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TGCAAAGATTCCAGTAAAGAC	0.318000													4	13					0.00024832	0.000269641	0.009096	1	0
KIF19	124602	broad.mit.edu	37	17	72350441	72350441	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:72350441G>A	ENST00000389916.4	+	18	2587	c.2449G>A	c.(2449-2451)Gag>Aag	p.E817K		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	817					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						CTCACTGAGCGAGGGCGACGA	0.721000													23	18					0	0	0.002299	0	0
WRN	7486	broad.mit.edu	37	8	30938390	30938390	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:30938390A>T	ENST00000298139.5	+	9	1096	c.847A>T	c.(847-849)Atc>Ttc	p.I283F		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	283					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TAGGGTTTCTATCTTACTAAA	0.299000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				6	0					0	0	0.001168	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12939712	12939712	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:12939712T>C	ENST00000235349.5	-	4	1160	c.1090A>G	c.(1090-1092)Atc>Gtc	p.I364V		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	364										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGTCTATGATGCCACAGTCA	0.507000													138	304					0	0	0.003610	0	0
EIF4G3	8672	broad.mit.edu	37	1	21220009	21220009	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:21220009C>A	ENST00000544689.1	-	6	855	c.715G>T	c.(715-717)Gta>Tta	p.V239L	EIF4G3_ENST00000537738.1_Splice_Site|EIF4G3_ENST00000374933.3_5'UTR|EIF4G3_ENST00000374937.3_Splice_Site|EIF4G3_ENST00000374935.3_Splice_Site|EIF4G3_ENST00000264211.8_Splice_Site|EIF4G3_ENST00000400422.1_Splice_Site|EIF4G3_ENST00000602326.1_Splice_Site|EIF4G3_ENST00000536266.1_Splice_Site			O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	696					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CTTGCACTTACAGGTACGCCT	0.473000													54	24					1.27334e-21	2.18386e-21	0.003610	1	0
VAX1	11023	broad.mit.edu	37	10	118896009	118896009	+	Missense_Mutation	SNP	G	G	A	rs143950742		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:118896009G>A	ENST00000277905.2	-	2	647	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	VAX1_ENST00000369206.5_Missense_Mutation_p.R135W	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	135						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		TTAAGCTGCCGGGCGAGCTCG	0.662000													6	18					0	0	0.001168	0	0
KIRREL	55243	broad.mit.edu	37	1	158063180	158063180	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:158063180T>A	ENST00000368172.1	+	8	977	c.965T>A	c.(964-966)cTg>cAg	p.L322Q	KIRREL_ENST00000392272.2_Missense_Mutation_p.L405Q|KIRREL_ENST00000359209.6_Missense_Mutation_p.L508Q|KIRREL_ENST00000416935.2_Missense_Mutation_p.L408Q|KIRREL_ENST00000360089.4_Missense_Mutation_p.L344Q|KIRREL_ENST00000368173.3_Missense_Mutation_p.L524Q			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	508	Ig-like C2-type 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GCGAGCATCCTGCTCATCTTC	0.582000													35	92					0	0	0.004289	0	0
LYZL4	131375	broad.mit.edu	37	3	42448644	42448644	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:42448644C>A	ENST00000287748.3	-	2	375	c.100G>T	c.(100-102)Gga>Tga	p.G34*	LYZL4_ENST00000470991.1_5'UTR|LYZL4_ENST00000441172.1_Nonsense_Mutation_p.G34*	NM_144634.2	NP_653235.1	Q96KX0	LYZL4_HUMAN	lysozyme-like 4	34					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|endometrium(1)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		TCCAGGCCTCCATCGTGGAGT	0.547000													31	7					9.78306e-22	1.68016e-21	0.009535	1	0
TRPS1	7227	broad.mit.edu	37	8	116599801	116599801	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:116599801C>A	ENST00000395715.3	-	5	2704	c.2127G>T	c.(2125-2127)caG>caT	p.Q709H	TRPS1_ENST00000520276.1_Missense_Mutation_p.Q700H|TRPS1_ENST00000519674.1_Missense_Mutation_p.Q696H|TRPS1_ENST00000519076.1_Missense_Mutation_p.Q450H|TRPS1_ENST00000220888.5_Missense_Mutation_p.Q696H	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	696	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TAAAACTGCACTGACGGCATT	0.468000									Langer-Giedion syndrome				23	209					1.96895e-08	2.4825e-08	0.002780	1	0
DHRS7C	201140	broad.mit.edu	37	17	9683332	9683332	+	Silent	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:9683332G>C	ENST00000330255.4	-	3	303	c.291C>G	c.(289-291)gtC>gtG	p.V97V	DHRS7C_ENST00000571134.1_Silent_p.V96V	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	97						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						GGTCCAACAGGACCAGCTTTG	0.512000													15	2					0	0	0.003163	0	0
KRT82	3888	broad.mit.edu	37	12	52799941	52799941	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:52799941C>T	ENST00000257974.2	-	1	198	c.121G>A	c.(121-123)Ggg>Agg	p.G41R		NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	41	Head.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CTACCACCCCCGGGCCGGCAT	0.662000													9	20					0	0	0.006214	0	0
KRTAP26-1	388818	broad.mit.edu	37	21	31692034	31692034	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr21:31692034C>A	ENST00000360542.3	-	1	573	c.320G>T	c.(319-321)tGc>tTc	p.C107F		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	107						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						TACTGGAAGGCAGGAACTGGA	0.537000													61	23					1.75667e-42	3.43112e-42	0.003610	1	0
TNR	7143	broad.mit.edu	37	1	175348736	175348736	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:175348736C>A	ENST00000367674.1	-	9	2623	c.1915G>T	c.(1915-1917)Gta>Tta	p.V639L	TNR_ENST00000263525.2_Missense_Mutation_p.V639L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	639	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGGACCAGTACCTCATGATAT	0.547000													16	35					2.32078e-09	3.00478e-09	0.003163	1	0
CACNA1I	8911	broad.mit.edu	37	22	40075819	40075819	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr22:40075819C>A	ENST00000336649.4	+	36	5505	c.5505C>A	c.(5503-5505)ttC>ttA	p.F1835L	CACNA1I_ENST00000404898.1_Missense_Mutation_p.F1794L|CACNA1I_ENST00000400164.3_Missense_Mutation_p.F1794L|CACNA1I_ENST00000401624.1_Missense_Mutation_p.F1829L|CACNA1I_ENST00000402142.3_Missense_Mutation_p.F1829L|CACNA1I_ENST00000407673.1_Missense_Mutation_p.F1794L			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1829					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GCTCCATCTTCCACCACTACT	0.607000													9	3					0.00621372	0.0065101	0.006214	1	0
RYR3	6263	broad.mit.edu	37	15	33952583	33952583	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr15:33952583G>T	ENST00000389232.4	+	34	4651	c.4581G>T	c.(4579-4581)gaG>gaT	p.E1527D	RYR3_ENST00000415757.3_Missense_Mutation_p.E1527D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1527	4 X approximate repeats.				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)		AGTGCCTGGAGCCCCTGCAGA	0.672000													4	7					0.00909568	0.0094583	0.009096	1	0
UBR5	51366	broad.mit.edu	37	8	103287962	103287962	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:103287962C>A	ENST00000520539.1	-	46	7210	c.6604G>T	c.(6604-6606)Gaa>Taa	p.E2202*	UBR5_ENST00000220959.4_Nonsense_Mutation_p.E2202*|UBR5_ENST00000521922.1_Nonsense_Mutation_p.E2196*	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2202					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)			CCAACATCTTCCATGAATACC	0.423000													36	22					1.42033e-22	2.46637e-22	0.004289	1	0
ENO1	2023	broad.mit.edu	37	1	8927283	8927283	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:8927283C>A	ENST00000234590.4	-	6	456	c.337G>T	c.(337-339)Ggg>Tgg	p.G113W		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	113	Required for repression of c-myc promoter activity.				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGGGACACCCCCAGAATGGCG	0.547000													48	41					9.57592e-29	1.76051e-28	0.003610	1	0
OR10G9	219870	broad.mit.edu	37	11	123894513	123894513	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:123894513A>T	ENST00000375024.1	+	1	794	c.794A>T	c.(793-795)gAc>gTc	p.D265V		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		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)		GGCTCCAGGGACGTCGTGGAT	0.522000													67	47					0	0	0.003610	0	0
CNPPD1	27013	broad.mit.edu	37	2	220038082	220038082	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:220038082C>A	ENST00000409789.1	-	8	1107	c.680G>T	c.(679-681)cGg>cTg	p.R227L	CNPPD1_ENST00000360507.5_Missense_Mutation_p.R227L			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	227					regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						CTTTACCAGCCGCTGGCAGAG	0.622000													39	73					4.0492e-12	5.63289e-12	0.006999	1	0
ATP4A	495	broad.mit.edu	37	19	36053455	36053455	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:36053455A>T	ENST00000262623.3	-	4	330	c.302T>A	c.(301-303)gTc>gAc	p.V101D		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	101					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CGCGAACTTGACGTACTCTGG	0.692000													12	12					0	0	0.010729	0	0
CHRND	1144	broad.mit.edu	37	2	233393312	233393312	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:233393312C>A	ENST00000258385.3	+	5	487	c.455C>A	c.(454-456)cCc>cAc	p.P152H	CHRND_ENST00000457943.2_Missense_Mutation_p.P62T|CHRND_ENST00000543200.1_Missense_Mutation_p.P137H|CHRND_ENST00000536614.1_Missense_Mutation_p.P152H	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	152					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		TCCTCCTGCCCCATCTCTGTC	0.577000													33	126					2.42023e-17	3.86496e-17	0.003271	1	0
ETV1	2115	broad.mit.edu	37	7	13971305	13971305	+	Silent	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:13971305A>G	ENST00000343495.5	-	8	1308	c.570T>C	c.(568-570)cgT>cgC	p.R190R	ETV1_ENST00000405192.2_Silent_p.R208R|ETV1_ENST00000420159.2_Silent_p.R150R|ETV1_ENST00000405218.2_Silent_p.R208R|ETV1_ENST00000399357.3_Silent_p.R105R|ETV1_ENST00000242066.5_Silent_p.R190R|ETV1_ENST00000430479.1_Silent_p.R208R|ETV1_ENST00000403527.1_Silent_p.R168R|ETV1_ENST00000403685.1_Silent_p.R190R|ETV1_ENST00000405358.4_Silent_p.R222R|ETV1_ENST00000476720.2_5'UTR			P50549	ETV1_HUMAN	ets variant 1	208					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGTACATAGGACGTCCTTCCC	0.507000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								12	39					0	0	0.001368	0	0
ACTG2	72	broad.mit.edu	37	2	74129495	74129495	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:74129495G>T	ENST00000409624.1	+	4	778	c.135G>T	c.(133-135)atG>atT	p.M45I	ACTG2_ENST00000345517.3_Missense_Mutation_p.M45I|ACTG2_ENST00000409918.1_Missense_Mutation_p.M45I|ACTG2_ENST00000409731.3_Intron			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	45					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						AGGGTGTGATGGTGGGAATGG	0.502000													11	30					5.50884e-06	6.38617e-06	0.001368	1	0
CCDC93	54520	broad.mit.edu	37	2	118731509	118731509	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:118731509T>A	ENST00000376300.2	-	11	1000	c.863A>T	c.(862-864)cAg>cTg	p.Q288L	CCDC93_ENST00000319432.5_Missense_Mutation_p.Q287L|CCDC93_ENST00000460781.1_5'UTR	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	288										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						GGACACAATCTGCTTGATCTC	0.557000													3	2					0	0	0.004672	0	0
UGT1A1	54658	broad.mit.edu	37	2	234669003	234669003	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:234669003G>A	ENST00000360418.3	+	1	70	c.70G>A	c.(70-72)Gtg>Atg	p.V24M	UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000305208.5_Missense_Mutation_p.V24M|UGT1A5_ENST00000373414.3_Intron|UGT1A3_ENST00000482026.1_Intron			P22309	UD11_HUMAN		24					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GGGCCCAGTGGTGTCCCATGC	0.627000													10	17					0	0	0.006214	0	0
KEL	3792	broad.mit.edu	37	7	142658584	142658584	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:142658584G>T	ENST00000355265.2	-	3	560	c.86C>A	c.(85-87)aCt>aAt	p.T29N	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	29					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CTCTTCTGGAGTGCTCTGTGG	0.542000													4	7					1.23904e-05	1.41928e-05	0.000602	1	0
TRPM1	4308	broad.mit.edu	37	15	31353686	31353686	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr15:31353686T>A	ENST00000542188.1	-	9	1485	c.1172A>T	c.(1171-1173)cAg>cTg	p.Q391L	TRPM1_ENST00000256552.6_Missense_Mutation_p.Q374L|TRPM1_ENST00000397795.2_Missense_Mutation_p.Q352L	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	352					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GATGTCCTGCTGGCCCTCAGA	0.468000													4	32					0	0	0.009096	0	0
MIR551B	693136	broad.mit.edu	37	3	168269691	168269691	+	RNA	SNP	A	A	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:168269691A>C	ENST00000384984.1	+	0	50					NR_030294.1																						GACCTGGTGCAGAACGGGAAG	0.463000													23	20					0	0	0.006320	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16848101	16848101	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:16848101C>A	ENST00000355661.3	-	10	919	c.909G>T	c.(907-909)caG>caT	p.Q303H	PLEKHA7_ENST00000448080.2_Missense_Mutation_p.Q303H|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.Q303H			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	303					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TGTGGTTGGCCTGGGGGACAG	0.542000													28	44					3.1745e-13	4.53189e-13	0.008361	1	0
OR4C13	283092	broad.mit.edu	37	11	49974145	49974145	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:49974145G>A	ENST00000555099.1	+	1	203	c.171G>A	c.(169-171)atG>atA	p.M57I		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						GATCCCCCATGTACTTTTTCC	0.428000													117	106					0	0	0.003610	0	0
COL6A3	1293	broad.mit.edu	37	2	238283538	238283538	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:238283538G>T	ENST00000295550.4	-	8	3648	c.3196C>A	c.(3196-3198)Cgc>Agc	p.R1066S	COL6A3_ENST00000472056.1_Missense_Mutation_p.R459S|COL6A3_ENST00000346358.4_Missense_Mutation_p.R866S|COL6A3_ENST00000347401.3_Missense_Mutation_p.R865S|COL6A3_ENST00000353578.4_Missense_Mutation_p.R860S|COL6A3_ENST00000392003.2_Missense_Mutation_p.R659S|COL6A3_ENST00000409809.1_Missense_Mutation_p.R860S|COL6A3_ENST00000392004.3_Missense_Mutation_p.R860S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1066	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACGGCCACGCGGACCCGGTCC	0.597000													5	45					3.59834e-05	4.06599e-05	0.001168	1	0
MB21D2	151963	broad.mit.edu	37	3	192516978	192516978	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:192516978C>A	ENST00000392452.2	-	2	993	c.673G>T	c.(673-675)Ggt>Tgt	p.G225C		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	225										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						CTCCCTACACCCAGAATGATG	0.468000													11	31					3.86212e-05	4.32502e-05	0.008291	1	0
GPR148	344561	broad.mit.edu	37	2	131487510	131487510	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:131487510C>A	ENST00000309926.4	+	1	868	c.786C>A	c.(784-786)acC>acA	p.T262T		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	262						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CCAGGGGCACCCTGCTGATCC	0.572000													42	87					8.01111e-26	1.44315e-25	0.010771	1	0
ZHX3	23051	broad.mit.edu	37	20	39833104	39833104	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr20:39833104C>T	ENST00000309060.3	-	4	868	c.453G>A	c.(451-453)gtG>gtA	p.V151V	ZHX3_ENST00000560361.1_Silent_p.V151V|ZHX3_ENST00000559234.1_Silent_p.V151V|ZHX3_ENST00000558993.1_Silent_p.V151V|ZHX3_ENST00000557816.1_Silent_p.V151V|ZHX3_ENST00000432768.2_Silent_p.V151V|ZHX3_ENST00000544979.2_Silent_p.V151V|ZHX3_ENST00000540170.1_Silent_p.V151V			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	151					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TGCTCTGCTCCACAACCACAT	0.552000													33	74					0	0	0.002836	0	0
COL3A1	1281	broad.mit.edu	37	2	189856949	189856949	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:189856949C>A	ENST00000304636.3	+	14	1161	c.991C>A	c.(991-993)Caa>Aaa	p.Q331K	COL3A1_ENST00000317840.5_Missense_Mutation_p.Q331K	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	331	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CAGTGATGGTCAACCAGTAAG	0.348000													15	36					3.41278e-10	4.50243e-10	0.004990	1	0
IL18R1	8809	broad.mit.edu	37	2	103013009	103013009	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:103013009A>T	ENST00000409599.1	+	12	1645	c.1289A>T	c.(1288-1290)cAc>cTc	p.H430L	IL18R1_ENST00000233957.1_Missense_Mutation_p.H430L			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	430	TIR.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GATGAAATCCACTCACTGATA	0.358000													8	20					0	0	0.006214	0	0
KIF17	57576	broad.mit.edu	37	1	21014335	21014335	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:21014335A>T	ENST00000247986.2	-	8	1794	c.1484T>A	c.(1483-1485)gTg>gAg	p.V495E	KIF17_ENST00000400463.3_Missense_Mutation_p.V495E|KIF17_ENST00000490034.1_Intron|KIF17_ENST00000375044.1_Missense_Mutation_p.V395E			Q9P2E2	KIF17_HUMAN	kinesin family member 17	495					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GGGTTTCACCACTGTCTCATA	0.567000													19	78					0	0	0.007413	0	0
DIDO1	11083	broad.mit.edu	37	20	61542656	61542656	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr20:61542656G>A	ENST00000266070.4	-	3	634	c.309C>T	c.(307-309)ccC>ccT	p.P103P	DIDO1_ENST00000370371.4_Silent_p.P103P|DIDO1_ENST00000370368.1_Silent_p.P103P|DIDO1_ENST00000354665.4_Silent_p.P103P|DIDO1_ENST00000395340.1_Silent_p.P103P|DIDO1_ENST00000266071.5_Silent_p.P103P|DIDO1_ENST00000395343.1_Silent_p.P103P|DIDO1_ENST00000395335.2_Silent_p.P103P|DIDO1_ENST00000370366.1_Silent_p.P103P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	103					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGTCTGTGGCGGGGCAGGACG	0.662000													18	21					0	0	0.004990	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576396	33576396	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:33576396G>T	ENST00000504830.1	-	19	4070	c.3735C>A	c.(3733-3735)gcC>gcA	p.A1245A	ADAMTS12_ENST00000352040.3_Silent_p.A1160A	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1245	Spacer 2.				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						GCAGAGTGTTGGCTGGCTTTT	0.532000										HNSCC(64;0.19)			68	276					1.72039e-30	3.19574e-30	0.003610	1	0
KRT7	3855	broad.mit.edu	37	12	52639225	52639225	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:52639225G>T	ENST00000331817.5	+	7	1197	c.1014G>T	c.(1012-1014)gaG>gaT	p.E338D	KRT7_ENST00000552322.1_3'UTR|RP3-416H24.1_ENST00000546686.1_RNA	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	338	Coil 2.|Rod.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		CCATTGCCGAGGCTGAGGAGC	0.662000													27	30					3.99451e-17	6.35467e-17	0.009535	1	0
C10orf2	56652	broad.mit.edu	37	10	102749515	102749515	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:102749515G>C	ENST00000370228.1	+	2	1543	c.1358G>C	c.(1357-1359)cGg>cCg	p.R453P	C10orf2_ENST00000473656.1_3'UTR|C10orf2_ENST00000311916.2_Missense_Mutation_p.R453P	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	453	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGACTAGCCCGGGTCATGCTG	0.532000													25	77					0	0	0.003330	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508673	106508673	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:106508673G>A	ENST00000359195.3	+	2	977	c.667G>A	c.(667-669)Gtc>Atc	p.V223I	PIK3CG_ENST00000496166.1_Missense_Mutation_p.V223I|PIK3CG_ENST00000440650.2_Missense_Mutation_p.V223I	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	223					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						CATCTTCATCGTCATTCACCG	0.592000													55	90					0	0	0.003610	0	0
KAT2A	2648	broad.mit.edu	37	17	40265767	40265767	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:40265767C>T	ENST00000225916.5	-	18	2467	c.2414G>A	c.(2413-2415)cGc>cAc	p.R805H		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	805	Bromo.				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						GTTGTACTCGCGACAGTTGGC	0.607000													12	17					0	0	0.001368	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68934401	68934401	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:68934401G>T	ENST00000356291.2	-	7	749	c.690C>A	c.(688-690)ggC>ggA	p.G230G	RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	230	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CACACTGATGGCCTGACCCTA	0.517000													37	9					3.21399e-22	5.5579e-22	0.004878	1	0
UBL3	5412	broad.mit.edu	37	13	30341775	30341775	+	Nonsense_Mutation	SNP	A	A	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr13:30341775A>C	ENST00000380680.4	-	4	1426	c.281T>G	c.(280-282)tTa>tGa	p.L94*		NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN	ubiquitin-like 3	94						intracellular|plasma membrane				large_intestine(3)|lung(1)	4		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		TGGCTCTGGTAATGTCTCTCT	0.398000													15	5					0	0	0.008871	0	0
TPTE	7179	broad.mit.edu	37	21	10906961	10906961	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr21:10906961C>G	ENST00000298232.7	-	23	1913	c.1546G>C	c.(1546-1548)Gag>Cag	p.E516Q	TPTE_ENST00000361285.4_Missense_Mutation_p.E534Q|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.E496Q	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	534	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)		AAAAGTATCTCCACGGCAAAA	0.358000													8	9					0	0	0.003080	0	0
KIAA1715	80856	broad.mit.edu	37	2	176794802	176794802	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:176794802C>T	ENST00000272748.4	-	13	1427	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	KIAA1715_ENST00000544803.1_Missense_Mutation_p.E425K|KIAA1715_ENST00000535310.1_3'UTR	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	394						integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TTCTCAGTCTCTTGTTTCTCC	0.433000													8	59					0	0	0.003080	0	0
PEX5L	51555	broad.mit.edu	37	3	179597742	179597742	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:179597742G>T	ENST00000467460.1	-	5	810	c.480C>A	c.(478-480)gtC>gtA	p.V160V	PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000464614.1_Intron|PEX5L_ENST00000392649.3_Intron|PEX5L_ENST00000485199.1_Silent_p.V125V|PEX5L_ENST00000476138.1_Silent_p.V117V|PEX5L_ENST00000472994.1_Silent_p.V101V|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000467440.2_Intron|PEX5L_ENST00000465751.1_Silent_p.V136V|PEX5L_ENST00000263962.8_Silent_p.V158V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	160					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			AAGTCTCCGGGACTCTGAGAG	0.507000													16	50					8.00594e-06	9.25525e-06	0.007413	1	0
BCLAF1	9774	broad.mit.edu	37	6	136599569	136599569	+	Silent	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:136599569A>G	ENST00000531224.1	-	4	702	c.450T>C	c.(448-450)taT>taC	p.Y150Y	BCLAF1_ENST00000392348.2_Silent_p.Y148Y|BCLAF1_ENST00000530767.1_Silent_p.Y150Y|BCLAF1_ENST00000527759.1_Silent_p.Y148Y|BCLAF1_ENST00000353331.4_Silent_p.Y148Y|BCLAF1_ENST00000527536.1_Silent_p.Y150Y	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	150					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GAGATTTGCTATATGGGGATG	0.433000													59	162					0	0	0.003610	0	0
EPX	8288	broad.mit.edu	37	17	56276975	56276975	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:56276975G>T	ENST00000225371.5	+	9	1467	c.1357G>T	c.(1357-1359)Ggg>Tgg	p.G453W		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	453					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						GCACTACAGGGGGTACTGCTC	0.597000													34	28					2.46105e-21	4.18646e-21	0.010818	1	0
ZNF804A	91752	broad.mit.edu	37	2	185800745	185800745	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:185800745C>A	ENST00000302277.6	+	4	1216	c.622C>A	c.(622-624)Cac>Aac	p.H208N		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	208						intracellular	zinc ion binding			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						CCAGGGGATTCACAGACACAA	0.428000													12	27					1.49906e-05	1.70931e-05	0.002450	1	0
KLHL26	55295	broad.mit.edu	37	19	18779735	18779735	+	Missense_Mutation	SNP	A	A	G	rs146678979		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:18779735A>G	ENST00000300976.4	+	3	1618	c.1528A>G	c.(1528-1530)Atc>Gtc	p.I510V	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	510										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CGGCGGCCGCATCTATGCCCT	0.682000													49	5					0	0	0.003610	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166519	19166519	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:19166519C>A	ENST00000375371.3	-	6	2115	c.2094G>T	c.(2092-2094)ctG>ctT	p.L698L		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	698					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)	GGCCCGTGGCCAGCATGCCAA	0.557000													25	124					1.64293e-13	2.37523e-13	0.003330	1	0
AKR1B1	231	broad.mit.edu	37	7	134133180	134133180	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:134133180C>A	ENST00000285930.4	-	6	697	c.618G>T	c.(616-618)gtG>gtT	p.V206V		NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	206					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	AGGCGGTCACCACGATGCCTT	0.517000													39	43					1.03325e-14	1.55484e-14	0.011902	1	0
COL25A1	84570	broad.mit.edu	37	4	110223091	110223091	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:110223091G>C	ENST00000399132.1	-	2	615	c.85C>G	c.(85-87)Cgg>Ggg	p.R29G	COL25A1_ENST00000399126.1_Missense_Mutation_p.R29G|COL25A1_ENST00000399127.1_Missense_Mutation_p.R29G	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	29						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GGCATGGTCCGGGCACAATGC	0.677000													39	14					0	0	0.006999	0	0
ZNF215	7762	broad.mit.edu	37	11	6953866	6953866	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:6953866C>T	ENST00000278319.5	+	3	951	c.363C>T	c.(361-363)acC>acT	p.T121T	ZNF215_ENST00000529903.1_Silent_p.T121T|ZNF215_ENST00000414517.2_Silent_p.T121T|ZNF215_ENST00000527171.1_3'UTR	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	121	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		ATATGGTGACCCTCATAGAAG	0.368000													5	15					0	0	0.001168	0	0
SPEG	10290	broad.mit.edu	37	2	220336998	220336998	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:220336998G>T	ENST00000312358.7	+	15	4017	c.3885G>T	c.(3883-3885)acG>acT	p.T1295T	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1295	Fibronectin type-III 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGGCTGTGACGGGGAGGATGG	0.652000													22	40					7.87624e-14	1.15604e-13	0.002780	1	0
OXSM	54995	broad.mit.edu	37	3	25833306	25833306	+	Silent	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:25833306A>G	ENST00000280701.3	+	2	894	c.795A>G	c.(793-795)cgA>cgG	p.R265R	OXSM_ENST00000449808.1_3'UTR|OXSM_ENST00000420173.2_Intron	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	265					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TGGCATGTCGACCATTTCATC	0.483000													39	16					0	0	0.004289	0	0
ATP2B1	490	broad.mit.edu	37	12	90021464	90021464	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:90021464G>T	ENST00000428670.3	-	7	1414	c.958C>A	c.(958-960)Cgc>Agc	p.R320S	ATP2B1_ENST00000393164.2_Missense_Mutation_p.R63S|ATP2B1_ENST00000261173.2_Missense_Mutation_p.R320S|ATP2B1_ENST00000348959.3_Missense_Mutation_p.R320S|ATP2B1_ENST00000359142.3_Missense_Mutation_p.R320S			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	320					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CCTTTGTTGCGATTCTCAATA	0.313000													32	42					4.3181e-19	7.1135e-19	0.002836	1	0
ELMO1	9844	broad.mit.edu	37	7	37264516	37264516	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:37264516G>T	ENST00000310758.4	-	9	1316	c.669C>A	c.(667-669)atC>atA	p.I223I	ELMO1_ENST00000448602.1_Silent_p.I223I|ELMO1_ENST00000442504.1_Silent_p.I223I	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	223					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GGCCGATGGTGATCTCCTGCG	0.542000													37	75					2.19358e-23	3.8357e-23	0.005524	1	0
GRIK5	2901	broad.mit.edu	37	19	42558061	42558061	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:42558061G>T	ENST00000262895.3	-	9	1076	c.1077C>A	c.(1075-1077)acC>acA	p.T359T	GRIK5_ENST00000593562.1_Silent_p.T359T|GRIK5_ENST00000301218.4_Silent_p.T359T	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	359						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CGACCCGCCCGGTCAGCCCAT	0.632000													28	6					1.08312e-15	1.66389e-15	0.009535	1	0
WRB	7485	broad.mit.edu	37	21	40765117	40765117	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr21:40765117G>C	ENST00000333781.5	+	4	503	c.362G>C	c.(361-363)tGg>tCg	p.W121S	WRB_ENST00000541890.1_Missense_Mutation_p.W121S|WRB_ENST00000466787.1_3'UTR|WRB_ENST00000398753.1_Missense_Mutation_p.W87S|WRB_ENST00000380708.1_Missense_Mutation_p.W87S	NM_004627.4	NP_004618.2	O00258	WRB_HUMAN	tryptophan rich basic protein	121						integral to membrane|nucleolus				endometrium(3)	3		Prostate(19;1.2e-06)				TCACTCATTTGGAAGTATTAT	0.498000													16	41					0	0	0.007413	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802353	185802353	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:185802353G>C	ENST00000302277.6	+	4	2824	c.2230G>C	c.(2230-2232)Gat>Cat	p.D744H		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	744						intracellular	zinc ion binding			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						TCTTCAAAATGATATGAAACA	0.338000													11	36					0	0	0.001368	0	0
LILRB1	10859	broad.mit.edu	37	19	55143411	55143411	+	Silent	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:55143411A>T	ENST00000396331.1	+	6	741	c.384A>T	c.(382-384)tcA>tcT	p.S128S	LILRB1_ENST00000418536.2_Silent_p.S128S|LILRB1_ENST00000324602.7_Silent_p.S128S|LILRB1_ENST00000434867.2_Silent_p.S128S|LILRB1_ENST00000448689.1_Silent_p.S128S|LILRB1_ENST00000396315.1_Silent_p.S128S|LILRB1_ENST00000396327.3_Silent_p.S128S|LILRB1_ENST00000396317.1_Silent_p.S128S|LILRB1_ENST00000427581.2_Silent_p.S164S|LILRB1_ENST00000396321.2_Silent_p.S128S|LILRB1_ENST00000396332.4_Silent_p.S128S	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	128	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCACCCTCTCAGCCCAGCCCA	0.572000										HNSCC(37;0.09)			59	17					0	0	0.003610	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255552	15255552	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:15255552C>T	ENST00000378116.4	-	8	2041	c.2035G>A	c.(2035-2037)Gct>Act	p.A679T		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	679						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						TTCATCTGAGCCAAAGCCGCG	0.632000													15	16					0	0	0.004007	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504910	151504910	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:151504910G>A	ENST00000317605.4	+	1	1834	c.729G>A	c.(727-729)atG>atA	p.M243I	LRBA_ENST00000535741.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000507224.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	243					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GCCTGCTGATGGGCGGCTGCC	0.637000													25	30					0	0	0.005443	0	0
AK5	26289	broad.mit.edu	37	1	77806060	77806060	+	Splice_Site	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:77806060A>T	ENST00000344720.5	+	6	1647		c.e6-1		AK5_ENST00000354567.2_Splice_Site	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5						ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TGCTCTCCACAGATCTGTACC	0.473000													23	34					0	0	0.012319	0	0
KIAA1598	57698	broad.mit.edu	37	10	118719648	118719648	+	Splice_Site	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:118719648T>A	ENST00000355371.4	-	4	763	c.267_splice	c.e4+1	p.K89_splice	KIAA1598_ENST00000260777.10_Splice_Site_p.K89_splice|KIAA1598_ENST00000392901.4_Splice_Site_p.K29_splice|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392903.2_Splice_Site_p.K89_splice	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	89					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		AAGTCTCACCTTTGTTGCCAA	0.368000													9	18					0	0	0.004482	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800519	185800519	+	Silent	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:185800519A>T	ENST00000302277.6	+	4	990	c.396A>T	c.(394-396)ggA>ggT	p.G132G		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	132						intracellular	zinc ion binding			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						GTGCTCCTGGAAGTGGCCCCA	0.333000													9	34					0	0	0.010729	0	0
OTC	5009	broad.mit.edu	37	X	38262932	38262932	+	Missense_Mutation	SNP	T	T	A	rs72558407		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chrX:38262932T>A	ENST00000039007.4	+	6	754	c.602T>A	c.(601-603)cTg>cAg	p.L201Q	TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	201			L -> P (in OTCD; neonatal).		arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	AACAATATCCTGCACTCCATC	0.483000													46	6					0	0	0.013114	0	0
VCAN	1462	broad.mit.edu	37	5	82818083	82818083	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:82818083C>A	ENST00000265077.3	+	7	4523	c.3958C>A	c.(3958-3960)Cct>Act	p.P1320T	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.P1272T|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.P1320T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1320	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAAATTTCACCCTGACATTAA	0.433000													30	8					1.39806e-14	2.09625e-14	0.008361	1	0
OR52N2	390077	broad.mit.edu	37	11	5841936	5841936	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:5841936G>T	ENST00000317037.2	+	1	393	c.371G>T	c.(370-372)cGc>cTc	p.R124L	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCCTGGACCGCTATGTGGCC	0.542000													21	47					2.08468e-23	3.66061e-23	0.012319	1	0
AMPH	273	broad.mit.edu	37	7	38500884	38500884	+	Splice_Site	SNP	T	T	A	rs36056840		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:38500884T>A	ENST00000356264.2	-	11	1231	c.1017_splice	c.e11+1	p.Q339_splice	AMPH_ENST00000428293.2_Splice_Site_p.Q339_splice|AMPH_ENST00000325590.5_Splice_Site_p.Q339_splice	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	339					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GGCACTTACCTGGGAAGGTGT	0.498000													58	132					0	0	0.003610	0	0
COL6A3	1293	broad.mit.edu	37	2	238303595	238303595	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:238303595G>T	ENST00000295550.4	-	3	796	c.344C>A	c.(343-345)aCc>aAc	p.T115N	COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000346358.4_Missense_Mutation_p.T115N|COL6A3_ENST00000347401.3_Missense_Mutation_p.T115N|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000392004.3_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	115	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGTCTGATTGGTTCCCCCAAT	0.458000													27	55					1.77063e-15	2.71006e-15	0.005443	1	0
NFATC3	4775	broad.mit.edu	37	16	68160513	68160513	+	Splice_Site	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr16:68160513G>T	ENST00000349223.5	+	3	1625	c.1401_splice	c.e3+1	p.K467_splice	NFATC3_ENST00000575270.1_Splice_Site_p.K467_splice|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Splice_Site_p.K467_splice|NFATC3_ENST00000329524.4_Splice_Site_p.K467_splice	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	467	RHD.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CTGTTGTGAAGGTATGAGACT	0.423000													28	8					1.5548e-18	2.54127e-18	0.005443	1	0
PLXNA3	55558	broad.mit.edu	37	X	153688605	153688605	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chrX:153688605G>T	ENST00000369682.3	+	2	257	c.82G>T	c.(82-84)Gtg>Ttg	p.V28L		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	28	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCCTTCGTGGTGACAGACAC	0.672000													54	14					2.27459e-33	4.31483e-33	0.003610	1	0
ZFHX4	79776	broad.mit.edu	37	8	77618174	77618174	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:77618174G>A	ENST00000521891.2	+	2	2299	c.1851G>A	c.(1849-1851)aaG>aaA	p.K617K	ZFHX4_ENST00000518282.1_Silent_p.K617K|ZFHX4_ENST00000050961.6_Silent_p.K617K|ZFHX4_ENST00000455469.2_Silent_p.K617K|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	617						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)			AGTGTCCAAAGTGCGACACTG	0.542000										HNSCC(33;0.089)			31	125					0	0	0.003271	0	0
SEMA4B	10509	broad.mit.edu	37	15	90771572	90771572	+	Silent	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr15:90771572C>G	ENST00000411539.2	+	14	2471	c.2211C>G	c.(2209-2211)ctC>ctG	p.L737L	SEMA4B_ENST00000332496.6_Silent_p.L737L|SEMA4B_ENST00000379122.3_Intron	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TATTCTTGCTCTACCGGCACC	0.607000													8	12					0	0	0.006214	0	0
POP1	10940	broad.mit.edu	37	8	99170455	99170455	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:99170455G>T	ENST00000401707.2	+	16	3112	c.3031G>T	c.(3031-3033)Gcc>Tcc	p.A1011S	POP1_ENST00000349693.3_Missense_Mutation_p.A1011S	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	1011					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GAGGCCTCCCGCCTCTCTGCA	0.527000													45	142					2.77807e-22	4.81071e-22	0.013114	1	0
AUTS2	26053	broad.mit.edu	37	7	70231275	70231275	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:70231275C>T	ENST00000342771.4	+	9	1965	c.1644C>T	c.(1642-1644)caC>caT	p.H548H	AUTS2_ENST00000406775.2_Silent_p.H548H	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	548	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CGTTCCCCCACGCCATCCCAC	0.617000													6	19					0	0	0.001984	0	0
CLCN1	1180	broad.mit.edu	37	7	143016943	143016943	+	Silent	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:143016943T>C	ENST00000343257.2	+	2	363	c.276T>C	c.(274-276)gaT>gaC	p.D92D		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	92					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ACAGCAAGGATGAGGATCACT	0.463000													36	49					0	0	0.008740	0	0
CFHR4	10877	broad.mit.edu	37	1	196884257	196884257	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:196884257C>A	ENST00000367416.2	+	9	1663	c.1526C>A	c.(1525-1527)cCa>cAa	p.P509Q	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Missense_Mutation_p.P263Q|CFHR4_ENST00000251424.4_Missense_Mutation_p.P263Q	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TCGGAACCACCAAGATGCATA	0.353000													32	62					1.57019e-19	2.60382e-19	0.007835	1	0
MYO15A	51168	broad.mit.edu	37	17	18023703	18023703	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:18023703C>G	ENST00000205890.5	+	2	1927	c.1589C>G	c.(1588-1590)cCt>cGt	p.P530R		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	530	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TACGGCCACCCTTTCTGGGGC	0.701000													15	7					0	0	0.003163	0	0
OSBP	5007	broad.mit.edu	37	11	59368776	59368776	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:59368776C>G	ENST00000263847.1	-	5	1583	c.1104G>C	c.(1102-1104)atG>atC	p.M368I		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	368					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AATTTTCAGGCATGGTGATGA	0.393000													9	23					0	0	0.004482	0	0
ANK2	287	broad.mit.edu	37	4	114279970	114279970	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:114279970C>A	ENST00000357077.4	+	38	10249	c.10196C>A	c.(10195-10197)tCa>tAa	p.S3399*	ANK2_ENST00000264366.6_Nonsense_Mutation_p.S3366*|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3366					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCTTTGGATTCAAAGACCAAA	0.478000													35	12					2.68265e-12	3.74988e-12	0.002836	1	0
ALDH1A1	216	broad.mit.edu	37	9	75545838	75545838	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr9:75545838T>C	ENST00000297785.3	-	3	323	c.269A>G	c.(268-270)tAc>tGc	p.Y90C	ALDH1A1_ENST00000376939.1_Missense_Mutation_p.Y90C|ALDH1A1_ENST00000482210.1_5'UTR	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	90					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	AGCCAACTTGTATAATAGTCG	0.502000													62	12					0	0	0.003610	0	0
PLOD2	5352	broad.mit.edu	37	3	145841966	145841966	+	Translation_Start_Site	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:145841966G>C	ENST00000494950.1	-	0	254				PLOD2_ENST00000360060.3_Missense_Mutation_p.R54G|PLOD2_ENST00000282903.5_Missense_Mutation_p.R54G			O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2						protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	p.R54*(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TGCATAAATCGATGGAATCCA	0.318000													5	16					0	0	0.001168	0	0
ALMS1	7840	broad.mit.edu	37	2	73677960	73677960	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:73677960G>T	ENST00000264448.6	+	8	4414	c.4303G>T	c.(4303-4305)Ggt>Tgt	p.G1435C	ALMS1_ENST00000377715.1_Missense_Mutation_p.G1435C|ALMS1_ENST00000409009.1_Missense_Mutation_p.G1393C	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1435	34 X 47 AA approximate tandem repeat.				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						AGAGAAGCCTGGTAGTTTCTA	0.498000													83	73					8.2577e-42	1.60538e-41	0.003610	1	0
OSBPL5	114879	broad.mit.edu	37	11	3114885	3114885	+	Silent	SNP	G	G	A	rs144394986	byFrequency	TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:3114885G>A	ENST00000263650.7	-	17	1977	c.1818C>T	c.(1816-1818)gaC>gaT	p.D606D	OSBPL5_ENST00000348039.5_Silent_p.D538D|OSBPL5_ENST00000478260.1_Silent_p.D60D|OSBPL5_ENST00000525498.1_Silent_p.D517D|OSBPL5_ENST00000542243.1_Silent_p.D237D|OSBPL5_ENST00000389989.3_Silent_p.D538D	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	606					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TGATAAACACGTCCCTGTCCT	0.687000													21	31					0	0	0.002780	0	0
ZNF185	7739	broad.mit.edu	37	X	152083700	152083700	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chrX:152083700G>T	ENST00000535861.1	+	3	225	c.177G>T	c.(175-177)cgG>cgT	p.R59R	ZNF185_ENST00000318504.7_Silent_p.R59R|ZNF185_ENST00000449285.2_Silent_p.R59R|ZNF185_ENST00000539731.1_Silent_p.R59R|ZNF185_ENST00000324823.6_5'UTR|ZNF185_ENST00000370268.4_Silent_p.R59R	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	59						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCAGGCCGGAGTCGCGCCA	0.622000													7	11					2.7689e-08	3.48408e-08	0.001984	1	0
PRAMEF7	441871	broad.mit.edu	37	1	12979699	12979699	+	Silent	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:12979699C>G	ENST00000361079.2	+	4	974	c.891C>G	c.(889-891)gtC>gtG	p.V297V						PRAME family member 7									p.V297V(1)		endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAGATGGTCGTTATGACCG	0.547000													45	138					0	0	0.003610	0	0
ANKRD13B	124930	broad.mit.edu	37	17	27935961	27935961	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:27935961G>C	ENST00000394859.3	+	5	668	c.514G>C	c.(514-516)Gac>Cac	p.D172H	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	172										cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						CCTGGGCTTTGACCACATGAC	0.617000													14	29					0	0	0.004007	0	0
FAM135B	51059	broad.mit.edu	37	8	139323093	139323093	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:139323093C>A	ENST00000395297.1	-	3	318	c.148G>T	c.(148-150)Ggg>Tgg	p.G50W		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	50										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)			CCTGTCTGCCCAGCGATGGAG	0.557000										HNSCC(54;0.14)			8	107					0.000157383	0.000171941	0.003080	1	0
ITIH6	347365	broad.mit.edu	37	X	54783842	54783842	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chrX:54783842T>C	ENST00000218436.6	-	8	2694	c.2665A>G	c.(2665-2667)Aga>Gga	p.R889G		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	889	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										CTGTCAGGTCTAGGAGGTAGT	0.517000													44	10					0	0	0.011902	0	0
TBC1D31	93594	broad.mit.edu	37	8	124105846	124105846	+	Silent	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:124105846T>C	ENST00000287380.1	+	5	625	c.535T>C	c.(535-537)Tta>Cta	p.L179L	TBC1D31_ENST00000378080.2_Silent_p.L74L|TBC1D31_ENST00000521676.1_Silent_p.L74L|TBC1D31_ENST00000309336.3_Silent_p.L179L|TBC1D31_ENST00000327098.5_Silent_p.L179L|TBC1D31_ENST00000522420.1_Silent_p.L74L	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		CTTTCTACCATTAAGTAATAC	0.323000													11	80					0	0	0.001368	0	0
WIPF1	7456	broad.mit.edu	37	2	175436453	175436453	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:175436453C>A	ENST00000392547.2	-	5	1179	c.1080G>T	c.(1078-1080)ccG>ccT	p.P360P	WIPF1_ENST00000409891.1_Silent_p.P360P|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Silent_p.P360P|WIPF1_ENST00000409415.3_Silent_p.P360P|WIPF1_ENST00000359761.3_Silent_p.P360P|WIPF1_ENST00000272746.5_Silent_p.P360P|AC018890.6_ENST00000412835.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	360	Pro-rich.			P -> PV (in Ref. 2; CAA60014).	actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						TCTCACTGGGCGGGGGAGGAA	0.607000													34	106					9.45814e-24	1.67254e-23	0.004878	1	0
MBOAT2	129642	broad.mit.edu	37	2	9008594	9008594	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:9008594C>G	ENST00000305997.3	-	9	1167	c.969G>C	c.(967-969)ttG>ttC	p.L323F	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	323					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTTGAATTCTCAAATTGGAAA	0.363000													13	52					0	0	0.001855	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519556	113519556	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:113519556T>C	ENST00000284601.3	-	4	1659	c.1591A>G	c.(1591-1593)Aga>Gga	p.R531G		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	531					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						AAATTTTTTCTTTGTTTTTCA	0.353000													11	63					0	0	0.008291	0	0
CA8	767	broad.mit.edu	37	8	61121394	61121394	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:61121394G>A	ENST00000317995.4	-	8	1087	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	275					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				TGAGTGGGCCGAAAGTTGTCT	0.453000													16	70					0	0	0.004007	0	0
KCNT2	343450	broad.mit.edu	37	1	196227502	196227502	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:196227502C>A	ENST00000367433.5	-	25	3062	c.2961G>T	c.(2959-2961)cgG>cgT	p.R987R	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Silent_p.R945R|KCNT2_ENST00000294725.8_Silent_p.R1011R|KCNT2_ENST00000451324.2_3'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1011						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TGCTTTTTCTCCGCAGCAAGG	0.512000													16	31					1.15088e-07	1.42241e-07	0.004007	1	0
HSD17B6	8630	broad.mit.edu	37	12	57167812	57167812	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:57167812C>T	ENST00000554643.1	+	3	525	c.176C>T	c.(175-177)gCg>gTg	p.A59V	HSD17B6_ENST00000554150.1_Missense_Mutation_p.A59V|HSD17B6_ENST00000322165.1_Missense_Mutation_p.A59V|HSD17B6_ENST00000555805.1_Missense_Mutation_p.A59V|HSD17B6_ENST00000555159.1_Missense_Mutation_p.A59V			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	59					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	GTGCTGGCTGCGTGTCTGACG	0.597000													29	48					0	0	0.005443	0	0
OR2W3	343171	broad.mit.edu	37	1	248059389	248059389	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:248059389C>A	ENST00000537741.1	+	3	758	c.501C>A	c.(499-501)ccC>ccA	p.P167P	OR2W3_ENST00000360358.3_Silent_p.P167P			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGCGCTTACCCCGCTGTGGGC	0.642000													15	43					3.27435e-08	4.09539e-08	0.002450	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125530445	125530445	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:125530445C>T	ENST00000431078.1	+	17	2964	c.2600C>T	c.(2599-2601)tCt>tTt	p.S867F		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	867	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CAGTCTCCTTCTCTTCTGAAT	0.527000													29	36					0	0	0.007291	0	0
MUC16	94025	broad.mit.edu	37	19	9082643	9082643	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:9082643C>A	ENST00000397910.4	-	1	9375	c.9172G>T	c.(9172-9174)Ggg>Tgg	p.G3058W		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3059	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGGAAGGCCCAAGAAATAGT	0.488000													39	36					9.45814e-24	1.67254e-23	0.004878	1	0
XPC	7508	broad.mit.edu	37	3	14200156	14200156	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:14200156C>A	ENST00000285021.7	-	9	1441	c.1227G>T	c.(1225-1227)caG>caT	p.Q409H	XPC_ENST00000449060.2_Missense_Mutation_p.Q372H	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	409	Arg/Lys-rich (basic).				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGCCTTCTCCTGCTTGTCTC	0.622000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				102	23					4.98428e-49	9.81182e-49	0.003610	1	0
SPTA1	6708	broad.mit.edu	37	1	158607982	158607982	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:158607982C>A	ENST00000368148.3	-	36	5210	c.5030G>T	c.(5029-5031)gGg>gTg	p.G1677V	SPTA1_ENST00000368147.3_Missense_Mutation_p.G1677V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1677					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTTGAAAGTCCCGCTGGAGAG	0.413000													23	19					6.44725e-10	8.46117e-10	0.002299	1	0
TOP2B	7155	broad.mit.edu	37	3	25660275	25660275	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:25660275G>C	ENST00000435706.2	-	24	3315	c.3114C>G	c.(3112-3114)ttC>ttG	p.F1038L	TOP2B_ENST00000264331.4_Missense_Mutation_p.F1043L|TOP2B_ENST00000542520.1_5'UTR			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1043					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						GTAAATCAAAGAATTCTTTCA	0.353000													5	8					0	0	0.001984	0	0
GLT1D1	144423	broad.mit.edu	37	12	129360556	129360556	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:129360556T>A	ENST00000442111.2	+	2	254	c.166T>A	c.(166-168)Tgc>Agc	p.C56S	GLT1D1_ENST00000537468.1_Missense_Mutation_p.C45S|GLT1D1_ENST00000281703.6_Missense_Mutation_p.C56S|GLT1D1_ENST00000542193.1_5'UTR			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	56					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GGCTGAGAACTGCGAGGCTGC	0.478000													31	164					0	0	0.002836	0	0
TRPM2	7226	broad.mit.edu	37	21	45845686	45845686	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr21:45845686G>T	ENST00000397928.1	+	25	4216	c.3771G>T	c.(3769-3771)gtG>gtT	p.V1257V	TRPM2_ENST00000300481.9_Silent_p.V1237V|TRPM2_ENST00000397932.2_Silent_p.V1307V|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.V1257V	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1257						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCTTCCCCGTGCCCAACGAGA	0.706000													9	2					1.12685e-05	1.29552e-05	0.004482	1	0
MYH2	4620	broad.mit.edu	37	17	10432175	10432175	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:10432175T>A	ENST00000245503.5	-	27	3960	c.3576A>T	c.(3574-3576)gaA>gaT	p.E1192D	MYH2_ENST00000397183.2_Missense_Mutation_p.E1192D|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1192					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						CCGCTGTGGCTTCATGCTGTA	0.587000													95	60					0	0	0.003610	0	0
WTIP	126374	broad.mit.edu	37	19	34983977	34983977	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:34983977G>T	ENST00000590071.2	+	3	1142	c.805G>T	c.(805-807)Ggt>Tgt	p.G269C	WTIP_ENST00000270288.6_Missense_Mutation_p.G493C	NM_001080436.1	NP_001073905.1			Wilms tumor 1 interacting protein											NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CTACAACGTGGGTGAGAAAGT	0.632000													57	68					3.10202e-16	4.86682e-16	0.003610	1	0
USP32	84669	broad.mit.edu	37	17	58366009	58366009	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:58366009C>A	ENST00000300896.4	-	5	640	c.446G>T	c.(445-447)tGg>tTg	p.W149L	USP32_ENST00000393003.3_Missense_Mutation_p.W149L	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	149					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TAGAAAAAGCCAATTTCTAAA	0.333000													9	27					0.00448238	0.00471592	0.004482	1	0
CPXM2	119587	broad.mit.edu	37	10	125506515	125506515	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:125506515C>A	ENST00000241305.3	-	14	2190	c.2036G>T	c.(2035-2037)tGg>tTg	p.W679L	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	679					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CAGGAGGCGCCAGTAATCCCC	0.552000													100	99					2.63247e-40	5.09405e-40	0.003610	1	0
HECTD4	283450	broad.mit.edu	37	12	112686297	112686297	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:112686297C>G	ENST00000550722.1	-	26	3927	c.3532G>C	c.(3532-3534)Gtg>Ctg	p.V1178L	HECTD4_ENST00000377560.5_Missense_Mutation_p.V1152L|HECTD4_ENST00000430131.2_Missense_Mutation_p.V902L	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		TCCTCCATCACGTCTGGCTGA	0.353000													6	13					0	0	0.001168	0	0
CACNB4	785	broad.mit.edu	37	2	152698451	152698451	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:152698451A>T	ENST00000360283.6	-	12	1426	c.1169T>A	c.(1168-1170)cTc>cAc	p.L390H	CACNB4_ENST00000427385.1_Missense_Mutation_p.L405H|CACNB4_ENST00000397327.2_Missense_Mutation_p.L376H|CACNB4_ENST00000534999.1_Missense_Mutation_p.L389H|CACNB4_ENST00000539935.1_Missense_Mutation_p.L423H|CACNB4_ENST00000201943.5_Intron			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	423					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	ATATGGTGAGAGTGCCGTGGA	0.488000													25	103					0	0	0.008361	0	0
PPFIA2	8499	broad.mit.edu	37	12	82147851	82147851	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:82147851C>A	ENST00000550584.2	-	2	445	c.150G>T	c.(148-150)cgG>cgT	p.R50R	PPFIA2_ENST00000548586.1_Silent_p.R50R|PPFIA2_ENST00000333447.7_Silent_p.R50R|PPFIA2_ENST00000549325.1_Silent_p.R50R|PPFIA2_ENST00000549396.1_Silent_p.R50R|PPFIA2_ENST00000552948.1_Silent_p.R50R	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	309										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CCTGGGTCTCCCGAAGGGTGT	0.527000													18	30					8.00594e-06	9.25525e-06	0.007413	1	0
GLDC	2731	broad.mit.edu	37	9	6604785	6604785	+	Splice_Site	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr9:6604785C>T	ENST00000321612.6	-	7	1012		c.e7-1			NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)						glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AGGCCAGGCTCTAGAAAGGAA	0.498000													17	20					0	0	0.006122	0	0
CDH19	28513	broad.mit.edu	37	18	64218475	64218475	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr18:64218475T>A	ENST00000262150.2	-	5	923	c.631A>T	c.(631-633)Aaa>Taa	p.K211*	CDH19_ENST00000540086.1_Nonsense_Mutation_p.K211*	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	211	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CTATCCATTTTAGAAGATATT	0.313000													23	20					0	0	0.005443	0	0
AVPR1A	552	broad.mit.edu	37	12	63543939	63543939	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:63543939C>A	ENST00000299178.2	-	1	783	c.678G>T	c.(676-678)gtG>gtT	p.V226V		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	226					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCACGGGCGCCACAAAGATGC	0.622000													52	74					6.18754e-15	9.34476e-15	0.003610	1	0
AMER3	205147	broad.mit.edu	37	2	131521440	131521440	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:131521440G>T	ENST00000423981.1	+	2	1905	c.1795G>T	c.(1795-1797)Gcc>Tcc	p.A599S	AMER3_ENST00000321420.4_Missense_Mutation_p.A599S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GTCCAGGGATGCCTCTCGAGA	0.597000													14	50					3.27435e-08	4.09539e-08	0.002450	1	0
SMARCD1	6602	broad.mit.edu	37	12	50481193	50481193	+	Silent	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:50481193T>C	ENST00000394963.4	+	5	977	c.579T>C	c.(577-579)gcT>gcC	p.A193A	SMARCD1_ENST00000381513.4_Silent_p.A193A	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1	193	Interaction with SMARCC1 and SMARCC2.|Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						TCAATCCGGCTAAGTCAGATG	0.517000													110	133					0	0	0.003610	0	0
SNHG14	104472715	broad.mit.edu	37	15	25339267	25339267	+	RNA	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr15:25339267C>T	ENST00000546682.1	+	0	1110				SNORD116-24_ENST00000384549.1_RNA|SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						CTTCGTTGAACTGAGGTCCAG	0.443000													19	66					0	0	0.006122	0	0
FSHR	2492	broad.mit.edu	37	2	49217719	49217719	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:49217719G>T	ENST00000406846.2	-	5	551	c.432C>A	c.(430-432)ctC>ctA	p.L144L	FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000346173.3_Silent_p.L144L|FSHR_ENST00000304421.4_Silent_p.L144L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	144					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	AAACTTTTTGGAGAGAATGAA	0.383000									Gonadal Dysgenesis, 46 XX				27	26					2.24059e-21	3.81663e-21	0.006320	1	0
GRM7	2917	broad.mit.edu	37	3	7494431	7494431	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:7494431C>T	ENST00000486284.1	+	6	1586	c.1312C>T	c.(1312-1314)Cca>Tca	p.P438S	GRM7_ENST00000402647.2_Missense_Mutation_p.P438S|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Missense_Mutation_p.P438S|GRM7_ENST00000357716.4_Missense_Mutation_p.P438S|GRM7_ENST00000389336.4_Missense_Mutation_p.P438S	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	438					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GGGTGTCTGCCCAGAGATGGA	0.473000													16	7					0	0	0.007413	0	0
ZFHX4	79776	broad.mit.edu	37	8	77761810	77761810	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:77761810C>T	ENST00000521891.2	+	8	4156	c.3708C>T	c.(3706-3708)gtC>gtT	p.V1236V	ZFHX4_ENST00000518282.1_Silent_p.V1210V|ZFHX4_ENST00000050961.6_Silent_p.V1191V|ZFHX4_ENST00000455469.2_Silent_p.V1191V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1191						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)			AGATGCACGTCCTATCACAGC	0.443000										HNSCC(33;0.089)			20	168					0	0	0.010504	0	0
INPP5B	3633	broad.mit.edu	37	1	38397621	38397621	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:38397621G>T	ENST00000373023.2	-	7	589	c.496C>A	c.(496-498)Cta>Ata	p.L166I	INPP5B_ENST00000373021.1_Missense_Mutation_p.L166I|INPP5B_ENST00000373024.3_Missense_Mutation_p.L166I|INPP5B_ENST00000373026.1_Missense_Mutation_p.L166I	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	166					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)				CAGGTAACTAGGGCCGAGTTA	0.642000													14	31					9.31168e-06	1.07251e-05	0.001855	1	0
CCDC129	223075	broad.mit.edu	37	7	31691583	31691583	+	Silent	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:31691583T>A	ENST00000319386.3	+	13	3291	c.2298T>A	c.(2296-2298)cgT>cgA	p.R766R	CCDC129_ENST00000451887.2_Silent_p.R940R|CCDC129_ENST00000407970.3_Silent_p.R914R|CCDC129_ENST00000409210.1_Silent_p.R822R			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	914										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AAACGTTACGTGAGGCCCTGA	0.483000													7	9					0	0	0.003080	0	0
OR6K6	128371	broad.mit.edu	37	1	158725560	158725560	+	Silent	SNP	C	C	T	rs149993086		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:158725560C>T	ENST00000368144.2	+	1	1051	c.955C>T	c.(955-957)Ctg>Ttg	p.L319L		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	319					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CATCTATAGCCTGAAAAACAA	0.438000													24	64					0	0	0.003330	0	0
STAB2	55576	broad.mit.edu	37	12	104142758	104142758	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:104142758C>A	ENST00000388887.2	+	59	6466	c.6262C>A	c.(6262-6264)Cag>Aag	p.Q2088K	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2088	EGF-like 16.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TTTCTGCAAACAGGACAACGG	0.577000													27	55					4.87955e-14	7.17885e-14	0.005443	1	0
SCN2A	6326	broad.mit.edu	37	2	166210893	166210893	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:166210893T>A	ENST00000375437.2	+	17	3401	c.3111T>A	c.(3109-3111)gaT>gaA	p.D1037E	SCN2A_ENST00000375427.2_Missense_Mutation_p.D1037E|SCN2A_ENST00000357398.3_Missense_Mutation_p.D1037E|SCN2A_ENST00000283256.6_Missense_Mutation_p.D1037E	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1037					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)	AAGCTTTAGATGAAATTAAAC	0.343000													17	55					0	0	0.004990	0	0
DMD	1756	broad.mit.edu	37	X	31838176	31838176	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chrX:31838176C>A	ENST00000357033.4	-	50	7431	c.7225G>T	c.(7225-7227)Gag>Tag	p.E2409*	DMD_ENST00000378707.3_5'UTR|DMD_ENST00000378677.2_Nonsense_Mutation_p.E2405*|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000541735.1_5'UTR	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2409					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCCTTCCACTCAGAGCTCAGA	0.413000													56	13					1.47633e-17	2.37273e-17	0.003610	1	0
MYH2	4620	broad.mit.edu	37	17	10446192	10446192	+	Splice_Site	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:10446192C>G	ENST00000245503.5	-	10	1288	c.904_splice	c.e10+1	p.E302_splice	MYH2_ENST00000397183.2_Splice_Site_p.E302_splice|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Splice_Site_p.E302_splice	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	302	Myosin head-like.				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						CATTTCTTACCAATAAGTTCT	0.338000													8	2					0	0	0.003080	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107423241	107423241	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:107423241G>T	ENST00000409382.3	-	6	2093	c.1483C>A	c.(1483-1485)Ctg>Atg	p.L495M	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.L495M	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	495					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CCCATGTTCAGGCGCTGCACC	0.617000													37	39					1.04594e-18	1.71179e-18	0.006230	1	0
FAM135B	51059	broad.mit.edu	37	8	139155347	139155347	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:139155347G>A	ENST00000395297.1	-	16	3716	c.3546C>T	c.(3544-3546)gaC>gaT	p.D1182D		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1182										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)			CTGCAAATGTGTCCATCTGGA	0.468000										HNSCC(54;0.14)			7	54					0	0	0.001984	0	0
TG	7038	broad.mit.edu	37	8	133961041	133961041	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:133961041C>T	ENST00000220616.4	+	27	5294	c.5254C>T	c.(5254-5256)Ctg>Ttg	p.L1752L	TG_ENST00000377869.1_Silent_p.L1695L|TG_ENST00000542445.1_Silent_p.L122L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1752					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)		CTGTGGGTTGCTGAGCTCACC	0.512000													36	257					0	0	0.005524	0	0
UGT2B4	7363	broad.mit.edu	37	4	70359506	70359506	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:70359506G>T	ENST00000305107.6	-	2	821	c.775C>A	c.(775-777)Cga>Aga	p.R259R	UGT2B4_ENST00000512583.1_Silent_p.R259R|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Silent_p.R123R	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	259					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CAGTAGTTTCGAATAAGCCAT	0.413000													29	17					4.22769e-11	5.71606e-11	0.006320	1	0
GFM1	85476	broad.mit.edu	37	3	158366915	158366915	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:158366915G>T	ENST00000486715.1	+	5	1015	c.658G>T	c.(658-660)Gaa>Taa	p.E220*	GFM1_ENST00000478576.1_Nonsense_Mutation_p.E220*|GFM1_ENST00000264263.5_Nonsense_Mutation_p.E220*	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	220					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TCTTATTGAGGAACGAGCCAT	0.294000													17	48					6.94344e-10	9.05541e-10	0.006122	1	0
CGA	1081	broad.mit.edu	37	6	87796136	87796136	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:87796136C>A	ENST00000369582.2	-	3	205	c.105G>T	c.(103-105)acG>acT	p.T35T		NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	35					hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		TTTCCTGTAGCGTGCATTCTG	0.473000													15	33					2.23348e-06	2.64553e-06	0.004007	1	0
TNFRSF4	7293	broad.mit.edu	37	1	1149499	1149499	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:1149499C>A	ENST00000379236.3	-	1	13	c.9G>T	c.(7-9)gtG>gtT	p.V3V		NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	3					immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCCGAGCCCCCACGCACATCC	0.692000													9	5					4.68919e-08	5.85331e-08	0.008291	1	0
CUL4B	8450	broad.mit.edu	37	X	119666391	119666391	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chrX:119666391C>T	ENST00000371322.5	-	18	2386	c.2325G>A	c.(2323-2325)ctG>ctA	p.L775L	CUL4B_ENST00000336592.6_Silent_p.L780L|CUL4B_ENST00000404115.3_Silent_p.L793L	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	793					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GATTTTTCGCCAGAACTCTAG	0.378000													27	13					0	0	0.003271	0	0
COL4A1	1282	broad.mit.edu	37	13	110830546	110830546	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr13:110830546G>A	ENST00000375820.4	-	32	2612	c.2491C>T	c.(2491-2493)Ccc>Tcc	p.P831S		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	831	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGGAATCCGGGGAAACCCTTC	0.522000													23	37					0	0	0.002780	0	0
CADM3	57863	broad.mit.edu	37	1	159166837	159166837	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:159166837C>A	ENST00000368125.4	+	7	1096	c.939C>A	c.(937-939)acC>acA	p.T313T	CADM3_ENST00000497636.1_3'UTR|CADM3_ENST00000368124.4_Silent_p.T347T|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	313	Ig-like C2-type 2.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CCTACTACACCCTCAATGTTA	0.488000													22	21					1.66031e-10	2.19968e-10	0.003954	1	0
DNER	92737	broad.mit.edu	37	2	230377550	230377550	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:230377550C>A	ENST00000341772.4	-	6	1230	c.1096G>T	c.(1096-1098)Gat>Tat	p.D366Y		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	366	EGF-like 4.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TCATTTGCATCAATACAGCTC	0.443000													17	80					6.94344e-10	9.05541e-10	0.006122	1	0
CCDC136	64753	broad.mit.edu	37	7	128446887	128446887	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:128446887C>A	ENST00000297788.4	+	9	1761	c.1394C>A	c.(1393-1395)gCc>gAc	p.A465D	CCDC136_ENST00000487361.1_Missense_Mutation_p.A412D|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	465						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GATACGGTGGCCTCCTTCAAA	0.557000													18	14					6.94344e-10	9.05541e-10	0.006122	1	0
RD3	343035	broad.mit.edu	37	1	211652627	211652627	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:211652627C>A	ENST00000367002.4	-	3	1502	c.339G>T	c.(337-339)gaG>gaT	p.E113D	RD3_ENST00000484910.1_5'UTR	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	113					response to stimulus|visual perception					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		GCTGGGACACCTCCTGCACCT	0.697000													4	7					2.56e-06	3.02655e-06	0.009096	1	0
SPAG6	9576	broad.mit.edu	37	10	22699966	22699966	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:22699966C>A	ENST00000376603.2	+	10	1691	c.1549C>A	c.(1549-1551)Ccg>Acg	p.P517T	SPAG6_ENST00000376601.1_Missense_Mutation_p.P202T|SPAG6_ENST00000376624.3_Missense_Mutation_p.P441T|SPAG6_ENST00000538630.1_Missense_Mutation_p.P416T|SPAG6_ENST00000490361.1_3'UTR|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000313311.6_Intron			O75602	SPAG6_HUMAN	sperm associated antigen 6	441					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						CAAGGTGCTGCCGCATGATAG	0.363000													5	20					2.0095e-06	2.38926e-06	0.001984	1	0
MYO15A	51168	broad.mit.edu	37	17	18024001	18024001	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:18024001G>A	ENST00000205890.5	+	2	2225	c.1887G>A	c.(1885-1887)agG>agA	p.R629R		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	629	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCGTGCTGAGGAGGGCCCAGC	0.741000													10	1					0	0	0.001368	0	0
HIPK2	28996	broad.mit.edu	37	7	139268706	139268706	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:139268706C>A	ENST00000406875.3	-	13	2916	c.2822G>T	c.(2821-2823)cGt>cTt	p.R941L	HIPK2_ENST00000342645.6_Missense_Mutation_p.R841L|HIPK2_ENST00000428878.2_Missense_Mutation_p.R914L	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	941	Interaction with AXIN1 (By similarity).|Interaction with TP53 and TP73.|Required for localization to nuclear speckles (By similarity).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	p.R941H(1)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GTGCCCAGCACGCTGCTGCAC	0.577000													19	22					1.37522e-17	2.21308e-17	0.007413	1	0
PRKDC	5591	broad.mit.edu	37	8	48744433	48744433	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:48744433T>C	ENST00000314191.2	-	61	8260	c.8204A>G	c.(8203-8205)cAg>cGg	p.Q2735R	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.Q2735R	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2736	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GAGCTTCTCCTGGTCCCTCAT	0.537000								Non-homologous end-joining					46	370					0	0	0.003610	0	0
COL2A1	1280	broad.mit.edu	37	12	48367956	48367956	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:48367956C>A	ENST00000380518.3	-	53	4397	c.4233G>T	c.(4231-4233)ctG>ctT	p.L1411L	COL2A1_ENST00000337299.6_Silent_p.L1342L|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1411	Fibrillar collagen NC1.				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)	CCTGGATGAGCAGGGCCTTCT	0.587000													11	74					3.07112e-06	3.60698e-06	0.010729	1	0
DPH6	89978	broad.mit.edu	37	15	35742886	35742886	+	Splice_Site	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr15:35742886C>A	ENST00000256538.4	-	5	531	c.505_splice	c.e5+1	p.G169_splice		NM_080650.3	NP_542381.1			diphthamine biosynthesis 6																		GGCTGCATACCCAAAGCTGCT	0.373000													14	37					6.81908e-15	1.02861e-14	0.002450	1	0
DUPD1	338599	broad.mit.edu	37	10	76803615	76803615	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:76803615G>T	ENST00000338487.5	-	2	360	c.361C>A	c.(361-363)Ctc>Atc	p.L121I		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	121	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AAGACACTGAGGTCGAAGGTG	0.682000													47	45					6.08268e-21	1.03052e-20	0.003610	1	0
OTUD6A	139562	broad.mit.edu	37	X	69282977	69282977	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chrX:69282977C>T	ENST00000338352.2	+	1	637	c.603C>T	c.(601-603)gaC>gaT	p.D201D		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	201	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						TCGGCTACGACGACTTCATGA	0.622000													14	22					0	0	0.003163	0	0
CPA5	93979	broad.mit.edu	37	7	129987644	129987644	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:129987644C>T	ENST00000485477.1	+	3	1283	c.154C>T	c.(154-156)Cag>Tag	p.Q52*	CPA5_ENST00000355388.3_Nonsense_Mutation_p.Q52*|CPA5_ENST00000393213.3_Nonsense_Mutation_p.Q52*|CPA5_ENST00000431780.2_Nonsense_Mutation_p.Q52*|CPA5_ENST00000461828.1_Nonsense_Mutation_p.Q52*|CPA5_ENST00000474905.1_Nonsense_Mutation_p.Q52*|CPA5_ENST00000466363.2_Nonsense_Mutation_p.Q52*			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	52					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					AGATGAGAAGCAGCTTTCACT	0.582000													15	15					0	0	0.003163	0	0
ENGASE	64772	broad.mit.edu	37	17	77077076	77077076	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:77077076G>T	ENST00000579016.1	+	6	793	c.793G>T	c.(793-795)Ggg>Tgg	p.G265W	ENGASE_ENST00000539857.2_Missense_Mutation_p.G79W	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	265						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GCAGGTCCCAGGGGGCCTGGT	0.592000													15	33					2.31682e-05	2.62266e-05	0.003163	1	0
OR10S1	219873	broad.mit.edu	37	11	123847878	123847878	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:123847878G>T	ENST00000531945.1	-	1	610	c.521C>A	c.(520-522)aCc>aAc	p.T174N		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		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)		GGTGAGGGAGGTGTGGATTGC	0.572000													25	26					1.64293e-13	2.37523e-13	0.003330	1	0
HERC2	8924	broad.mit.edu	37	15	28515907	28515907	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr15:28515907C>A	ENST00000261609.7	-	10	1299	c.1191G>T	c.(1189-1191)atG>atT	p.M397I		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	397					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTAAATGGGCCATGACAACAA	0.537000													17	40					4.14922e-12	5.76562e-12	0.004007	1	0
SPTBN2	6712	broad.mit.edu	37	11	66457400	66457400	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:66457400G>A	ENST00000533211.1	-	29	6156	c.5825C>T	c.(5824-5826)gCg>gTg	p.A1942V	SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1942V|SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1942V			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1942					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GACTAGATCCGCGGAGGACAC	0.632000													27	53					0	0	0.006320	0	0
ZNF136	7695	broad.mit.edu	37	19	12297713	12297713	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:12297713G>A	ENST00000343979.4	+	4	660	c.520G>A	c.(520-522)Gga>Aga	p.G174R	ZNF136_ENST00000398616.2_Missense_Mutation_p.G108R	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	174					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						TAAGGAATGTGGAAAAACCTT	0.378000													3	9					0	0	0.004672	0	0
INPP4B	8821	broad.mit.edu	37	4	143114323	143114323	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:143114323C>T	ENST00000513000.1	-	16	1531	c.1098G>A	c.(1096-1098)gtG>gtA	p.V366V	INPP4B_ENST00000308502.4_Silent_p.V366V|INPP4B_ENST00000508116.1_Silent_p.V366V|INPP4B_ENST00000262992.4_Silent_p.V366V|INPP4B_ENST00000509777.1_Silent_p.V366V	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	366					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)					CTGGGGCTCCCACAGTGATGA	0.428000													66	17					0	0	0.003610	0	0
TRAK2	66008	broad.mit.edu	37	2	202251067	202251067	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:202251067C>A	ENST00000332624.3	-	14	2265	c.1837G>T	c.(1837-1839)Gat>Tat	p.D613Y		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	613				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						TCCTCTTCATCCTCTTCTAAA	0.453000													20	58					3.51602e-12	4.89661e-12	0.008871	1	0
KALRN	8997	broad.mit.edu	37	3	124053317	124053317	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:124053317G>T	ENST00000360013.3	+	9	1743	c.1616G>T	c.(1615-1617)tGc>tTc	p.C539F	KALRN_ENST00000460856.1_Missense_Mutation_p.C539F|KALRN_ENST00000240874.3_Missense_Mutation_p.C539F	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	539					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						CTGCAGCTCTGCGTCTTCCAG	0.602000													24	11					3.5997e-14	5.32092e-14	0.002299	1	0
GABRA3	2556	broad.mit.edu	37	X	151393252	151393252	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chrX:151393252G>A	ENST00000370314.4	-	6	855	c.617C>T	c.(616-618)cCa>cTa	p.P206L	GABRA3_ENST00000535043.1_Missense_Mutation_p.P206L|GABRA3_ENST00000370311.1_Missense_Mutation_p.P206L	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	206					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAACTTCAGTGGGCAGGCATG	0.368000													22	63					0	0	0.002299	0	0
COL24A1	255631	broad.mit.edu	37	1	86308023	86308023	+	Splice_Site	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:86308023C>T	ENST00000370571.2	-	40	3882	c.3516_splice	c.e40+1	p.R1172_splice	COL24A1_ENST00000436319.1_Splice_Site_p.R1172_splice	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1172	Collagen-like 12.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AAATACTTACCCTGTACCCTG	0.303000													4	9					0	0	0.009096	0	0
PANX1	24145	broad.mit.edu	37	11	93913962	93913962	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:93913962A>G	ENST00000227638.3	+	5	1593	c.1208A>G	c.(1207-1209)aAc>aGc	p.N403S	PANX1_ENST00000436171.2_Intron	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	403					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACAGGTATGAACATAGACAGT	0.338000													9	20					0	0	0.006214	0	0
BLK	640	broad.mit.edu	37	8	11415488	11415488	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:11415488C>A	ENST00000259089.4	+	10	1562	c.970C>A	c.(970-972)Ctg>Atg	p.L324M	RP11-148O21.4_ENST00000528629.1_RNA|BLK_ENST00000529894.1_Missense_Mutation_p.L253M	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	324	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		GCTGGATTTCCTGAAGACAGA	0.557000													22	10					6.21321e-17	9.8219e-17	0.002780	1	0
GABRA2	2555	broad.mit.edu	37	4	46305630	46305630	+	Splice_Site	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:46305630C>A	ENST00000510861.1	-	8	877		c.e8-1		GABRA2_ENST00000356504.1_Splice_Site|GABRA2_ENST00000381620.4_Splice_Site|GABRA2_ENST00000507069.1_Splice_Site|GABRA2_ENST00000540012.1_Splice_Site|GABRA2_ENST00000514090.1_Splice_Site|GABRA2_ENST00000515082.1_Splice_Site			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2						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)	GTATATTCACCTGGAAGAAAA	0.333000													9	23					0.00448238	0.00471592	0.004482	1	0
SLC5A4	6527	broad.mit.edu	37	22	32617003	32617003	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr22:32617003G>T	ENST00000266086.4	-	14	1683	c.1672C>A	c.(1672-1674)Cgc>Agc	p.R558S	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	558					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAGCACAGGCGGTACAGCTGA	0.403000													41	7					1.58521e-26	2.85977e-26	0.005524	1	0
IGKV2D-24	28885	broad.mit.edu	37	2	90044287	90044287	+	RNA	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:90044287A>T	ENST00000462693.1	+	0	238																											CCAGCCTCCAAGACTCCTAAT	0.522000													37	121					0	0	0.007835	0	0
EIF3F	8665	broad.mit.edu	37	11	8009161	8009161	+	Missense_Mutation	SNP	G	G	A	rs143020927	by1000genomes	TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:8009161G>A	ENST00000533626.1	+	3	888	c.262G>A	c.(262-264)Ggc>Agc	p.G88S	EIF3F_ENST00000309828.4_Missense_Mutation_p.G88S|EIF3F_ENST00000449102.2_5'UTR|EIF3F_ENST00000537635.1_Missense_Mutation_p.G103S			O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3, subunit F	88	MPN.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCCTTCCCCGGCGGCCGCGT	0.672000											OREG0020726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	12					0	0	0.008291	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819209	50819209	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:50819209G>T	ENST00000374115.3	+	1	863	c.423G>T	c.(421-423)ttG>ttT	p.L141F	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	141					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TGAACCCCTTGAGCGGGCCCT	0.622000													51	14					1.21353e-23	2.13391e-23	0.003610	1	0
KCNA4	3739	broad.mit.edu	37	11	30032812	30032812	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:30032812T>A	ENST00000328224.6	-	2	2647	c.1414A>T	c.(1414-1416)Aga>Tga	p.R472*		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	472						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ATGCTGGCTCTGAGGGTGTGG	0.527000													14	61					0	0	0.002450	0	0
DSC1	1823	broad.mit.edu	37	18	28736079	28736079	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr18:28736079T>C	ENST00000257197.3	-	4	659	c.398A>G	c.(397-399)aAg>aGg	p.K133R	DSC1_ENST00000257198.5_Missense_Mutation_p.K133R|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	133					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CCATCGTCTCTTGCTGCGCTT	0.408000													27	62					0	0	0.005443	0	0
AACS	65985	broad.mit.edu	37	12	125612781	125612781	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:125612781C>T	ENST00000316519.6	+	13	1590	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	AACS_ENST00000545511.1_Silent_p.P41P|AACS_ENST00000261686.6_Missense_Mutation_p.R462W|AACS_ENST00000316543.10_Missense_Mutation_p.R60W	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	462					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	p.R462R(1)		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)		GATTCAGGCCCGGAACCTGGG	0.542000													11	34					0	0	0.010729	0	0
WDR70	55100	broad.mit.edu	37	5	37396476	37396476	+	Splice_Site	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:37396476G>T	ENST00000265107.4	+	5	452		c.e5-1		WDR70_ENST00000504564.1_Splice_Site	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70											central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGTATTTTCAGGGATACGAGC	0.398000													49	54					8.72198e-27	1.57802e-26	0.003610	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110467032	110467032	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:110467032C>T	ENST00000378402.5	+	45	6929	c.6825C>T	c.(6823-6825)gtC>gtT	p.V2275V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2275	G8 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGCTCCCTGTCTATGGTGCCA	0.522000										HNSCC(38;0.096)			75	42					0	0	0.003610	0	0
GRM7	2917	broad.mit.edu	37	3	7188305	7188305	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:7188305G>C	ENST00000486284.1	+	2	960	c.686G>C	c.(685-687)aGt>aCt	p.S229T	GRM7_ENST00000402647.2_Missense_Mutation_p.S229T|GRM7_ENST00000403881.1_Missense_Mutation_p.S229T|GRM7_ENST00000357716.4_Missense_Mutation_p.S229T|GRM7_ENST00000389336.4_Missense_Mutation_p.S229T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	229					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TCGGAAGGAAGTTATGGAGAG	0.522000													24	16					0	0	0.004656	0	0
GLT1D1	144423	broad.mit.edu	37	12	129431967	129431967	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:129431967C>T	ENST00000442111.2	+	10	832	c.744C>T	c.(742-744)agC>agT	p.S248S	GLT1D1_ENST00000537468.1_Silent_p.S253S|GLT1D1_ENST00000281703.6_Silent_p.S168S|GLT1D1_ENST00000542193.1_Silent_p.S165S			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	248					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		TGGTGAATAGCTCTGTCTCTG	0.473000													24	47					0	0	0.003954	0	0
BCL9	607	broad.mit.edu	37	1	147090787	147090787	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:147090787C>T	ENST00000234739.3	+	8	1566	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	276	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TCCCCTGGACCGGGAGAGTCC	0.592000			T	"""IGH@, IGL@"""	B-ALL								17	64					0	0	0.004990	0	0
NOL4	8715	broad.mit.edu	37	18	31463354	31463354	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr18:31463354G>T	ENST00000261592.5	-	10	1874	c.1577C>A	c.(1576-1578)cCa>cAa	p.P526Q	NOL4_ENST00000535384.1_Missense_Mutation_p.P241Q|NOL4_ENST00000538587.1_Missense_Mutation_p.P452Q|NOL4_ENST00000589544.1_Missense_Mutation_p.P424Q|NOL4_ENST00000535475.1_Missense_Mutation_p.P307Q|NOL4_ENST00000269185.4_Missense_Mutation_p.P310Q	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	526						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GGTCGCCTCTGGTTTACACTG	0.468000													39	43					9.8876e-21	1.66612e-20	0.004878	1	0
AEBP1	165	broad.mit.edu	37	7	44153353	44153353	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:44153353C>G	ENST00000223357.3	+	21	3275	c.2970C>G	c.(2968-2970)atC>atG	p.I990M	AEBP1_ENST00000450684.2_Missense_Mutation_p.I565M	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	990	Required for transcriptional repression (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GGAAGCGCATCCGGGAGATCA	0.617000													21	98					0	0	0.010504	0	0
UBE2E3	10477	broad.mit.edu	37	2	181922478	181922478	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:181922478G>T	ENST00000410062.4	+	4	697	c.304G>T	c.(304-306)Ggt>Tgt	p.G102C	UBE2E3_ENST00000392415.2_Missense_Mutation_p.G102C|UBE2E3_ENST00000602837.1_3'UTR|UBE2E3_ENST00000602710.1_Missense_Mutation_p.G102C|UBE2E3_ENST00000602959.1_Missense_Mutation_p.G102C	NM_006357.2	NP_006348.1	Q969T4	UB2E3_HUMAN	ubiquitin-conjugating enzyme E2E 3	102					protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth	cytoplasm|nucleolus	ATP binding|protein binding|ubiquitin-protein ligase activity			breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						TGGTCCACCGGGTTCTGTATA	0.343000													19	109					1.28384e-07	1.58361e-07	0.012319	1	0
PADI1	29943	broad.mit.edu	37	1	17531764	17531764	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:17531764G>T	ENST00000375471.4	+	1	144	c.52G>T	c.(52-54)Gtg>Ttg	p.V18L		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	18					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	TACCCATGCCGTGTGTGTGGT	0.592000													22	6					1.50039e-11	2.04852e-11	0.012319	1	0
TTN	7273	broad.mit.edu	37	2	179528591	179528591	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:179528591C>T	ENST00000589042.1	-	170	36627	c.36403G>A	c.(36403-36405)Gtg>Atg	p.V12135M	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10284							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)			GCCAAGGGCACTTTCTCTTCG	0.408000													58	193					0	0	0.003610	0	0
RC3H2	54542	broad.mit.edu	37	9	125621336	125621336	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr9:125621336C>A	ENST00000373670.1	-	11	2495	c.1895G>T	c.(1894-1896)tGt>tTt	p.C632F	RC3H2_ENST00000423239.2_Missense_Mutation_p.C632F|RC3H2_ENST00000357244.2_Missense_Mutation_p.C632F			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	632	Pro-rich.					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GCGAGGAACACAGGGAGCCAC	0.453000													9	19					0.000274275	0.000296796	0.004482	1	0
EPHA5	2044	broad.mit.edu	37	4	66280009	66280009	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:66280009G>T	ENST00000273854.3	-	7	2280	c.1680C>A	c.(1678-1680)acC>acA	p.T560T	EPHA5_ENST00000354839.4_Silent_p.T560T|EPHA5_ENST00000432638.2_Silent_p.T396T|EPHA5_ENST00000511294.1_Silent_p.T560T	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	560					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TACACACTGGGGTGGTTTCAA	0.453000										TSP Lung(17;0.13)			28	5					3.65163e-15	5.54835e-15	0.006320	1	0
DSG2	1829	broad.mit.edu	37	18	29116302	29116302	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr18:29116302G>T	ENST00000261590.8	+	11	1770	c.1561G>T	c.(1561-1563)Gat>Tat	p.D521Y		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	521					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AGAGGACCTGGATGGACACCC	0.463000													34	36					5.04308e-16	7.87274e-16	0.006230	1	0
APOA4	337	broad.mit.edu	37	11	116693874	116693874	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:116693874G>T	ENST00000357780.3	-	1	148	c.34C>A	c.(34-36)Ctg>Atg	p.L12M		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)		ACAGCCACCAGGGCCAGGGTC	0.587000													66	88					3.07281e-33	5.81142e-33	0.003610	1	0
CD300A	11314	broad.mit.edu	37	17	72462876	72462876	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:72462876G>A	ENST00000360141.3	+	1	322	c.34G>A	c.(34-36)Gtc>Atc	p.V12I	CD300A_ENST00000361933.3_Missense_Mutation_p.V12I|CD300A_ENST00000392625.3_Missense_Mutation_p.V12I|CD300A_ENST00000310828.5_Missense_Mutation_p.V12I	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	12					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GCTTCTCTGGGTCCCAGGTGA	0.662000													3	0					0	0	0.009096	0	0
MYH4	4622	broad.mit.edu	37	17	10358039	10358039	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:10358039G>T	ENST00000255381.2	-	22	2634	c.2524C>A	c.(2524-2526)Ccc>Acc	p.P842T	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	842					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.P842T(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTGAGGAGGGGCTTGATCTTG	0.453000													51	49					1.07234e-20	1.80454e-20	0.003610	1	0
GDPD3	79153	broad.mit.edu	37	16	30124062	30124062	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr16:30124062C>A	ENST00000406256.3	-	3	612	c.235G>T	c.(235-237)Gac>Tac	p.D79Y		NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	79	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						ACCACTCTGTCCCGTGTCAGC	0.657000											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	50					4.78724e-31	8.94571e-31	0.003610	1	0
LAMB4	22798	broad.mit.edu	37	7	107704254	107704254	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:107704254G>T	ENST00000388781.3	-	22	3096	c.3013C>A	c.(3013-3015)Ctc>Atc	p.L1005I	LAMB4_ENST00000205386.4_Missense_Mutation_p.L1005I|LAMB4_ENST00000388780.3_Missense_Mutation_p.L1005I	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1005	Laminin EGF-like 10.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GGTTTGCAGAGCTGGCAGTTT	0.522000													118	53					2.12763e-61	4.23496e-61	0.003610	1	0
FSHR	2492	broad.mit.edu	37	2	49195959	49195959	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:49195959C>A	ENST00000406846.2	-	9	851	c.732G>T	c.(730-732)ctG>ctT	p.L244L	FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000346173.3_Intron|FSHR_ENST00000304421.4_Silent_p.L218L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	244					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	ACCTGGCCCTCAGCTTCTTAA	0.433000									Gonadal Dysgenesis, 46 XX				35	21					1.90571e-15	2.91324e-15	0.004289	1	0
TRPC5	7224	broad.mit.edu	37	X	111155752	111155752	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chrX:111155752G>T	ENST00000262839.2	-	3	1585	c.667C>A	c.(667-669)Ctg>Atg	p.L223M		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	223					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCCCAGCCCAGACGGAAGGCA	0.557000													44	106					9.84934e-19	1.61405e-18	0.010771	1	0
LRP1B	53353	broad.mit.edu	37	2	141093184	141093184	+	Splice_Site	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:141093184C>T	ENST00000389484.3	-	78	13087	c.12116_splice	c.e78+1	p.G4039_splice		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4039					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)		ATTAACCTACCCTCTTTTAGG	0.368000										TSP Lung(27;0.18)			22	88					0	0	0.012319	0	0
PCMTD1	115294	broad.mit.edu	37	8	52733126	52733126	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:52733126T>A	ENST00000360540.5	-	7	1265	c.859A>T	c.(859-861)Act>Tct	p.T287S	PCMTD1_ENST00000544451.1_Missense_Mutation_p.T211S|PCMTD1_ENST00000522514.1_Missense_Mutation_p.T287S|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	287						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				AATACGTAAGTGTTAATTCTC	0.393000													6	126					0	0	0.008291	0	0
ENPP2	5168	broad.mit.edu	37	8	120629482	120629482	+	Splice_Site	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:120629482C>A	ENST00000427067.2	-	7	747	c.565_splice	c.e7-1	p.R189_splice	ENPP2_ENST00000522826.1_Splice_Site_p.R193_splice|ENPP2_ENST00000259486.6_Splice_Site_p.R193_splice|ENPP2_ENST00000075322.6_Splice_Site_p.R193_splice			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	193					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGCCACAAGACCCTGGAAAGA	0.383000													11	45					3.07112e-06	3.60698e-06	0.010729	1	0
SLC35F2	54733	broad.mit.edu	37	11	107663485	107663485	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:107663485C>A	ENST00000525071.1	-	11	1562	c.974G>T	c.(973-975)tGg>tTg	p.W325L	SLC35F2_ENST00000429869.1_Silent_p.V327V|SLC35F2_ENST00000265836.7_Silent_p.V179V|SLC35F2_ENST00000525815.1_Silent_p.V327V|SLC35F2_ENST00000375682.4_Silent_p.V280V			Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	329					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		GGATAAACCCCACCATGATGA	0.547000													9	15					2.17888e-05	2.47546e-05	0.006214	1	0
MAGEB6	158809	broad.mit.edu	37	X	26212158	26212158	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chrX:26212158G>C	ENST00000379034.1	+	2	344	c.195G>C	c.(193-195)caG>caC	p.Q65H		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	65	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AGGAGTCTCAGGGAGTGTCAC	0.527000													27	9					0	0	0.004656	0	0
DHRS4	10901	broad.mit.edu	37	14	24424307	24424307	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr14:24424307G>A	ENST00000313250.5	+	2	395	c.192G>A	c.(190-192)cgG>cgA	p.R64R	DHRS4_ENST00000558581.1_Silent_p.R64R|DHRS4_ENST00000397073.2_Silent_p.R46R|DHRS4_ENST00000421831.1_Silent_p.R46R|DHRS4_ENST00000308178.8_Silent_p.R46R|DHRS4_ENST00000382761.3_Silent_p.R46R|DHRS4_ENST00000558263.1_Silent_p.R64R|DHRS4_ENST00000397074.3_Silent_p.R64R|DHRS4_ENST00000559632.1_Silent_p.R64R|DHRS4_ENST00000397075.3_Silent_p.R64R|DHRS4_ENST00000543741.2_Silent_p.R64R	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	64						mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	TCAGCAGCCGGAAGCAGCAGA	0.667000													21	62					0	0	0.012319	0	0
PDE10A	10846	broad.mit.edu	37	6	165846533	165846533	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:165846533C>A	ENST00000366882.1	-	8	746	c.592G>T	c.(592-594)Ggt>Tgt	p.G198C	PDE10A_ENST00000354448.4_Missense_Mutation_p.G198C|PDE10A_ENST00000539869.2_Missense_Mutation_p.G208C			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	198	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	ATCAAGTCACCAATTGCAGTG	0.443000													17	23					1.5739e-10	2.08963e-10	0.004007	1	0
NRCAM	4897	broad.mit.edu	37	7	107872908	107872908	+	Missense_Mutation	SNP	T	T	C	rs150121000		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:107872908T>C	ENST00000379028.3	-	7	759	c.289A>G	c.(289-291)Atg>Gtg	p.M97V	NRCAM_ENST00000425651.2_Missense_Mutation_p.M97V|NRCAM_ENST00000413765.2_Missense_Mutation_p.M97V|NRCAM_ENST00000379022.4_Missense_Mutation_p.M97V|NRCAM_ENST00000379024.4_Missense_Mutation_p.M97V|NRCAM_ENST00000351718.4_Missense_Mutation_p.M91V			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	97	Ig-like 1.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CCAGGCTTCATGGTGACCAGA	0.473000													35	89					0	0	0.003755	0	0
IGDCC4	57722	broad.mit.edu	37	15	65684694	65684694	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr15:65684694C>T	ENST00000352385.2	-	11	2109	c.1900G>A	c.(1900-1902)Gca>Aca	p.A634T		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	634	Fibronectin type-III 3.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TTCAACTCTGCAGGGGCAAAA	0.557000													13	34					0	0	0.001855	0	0
MIR876	100126310	broad.mit.edu	37	9	28863632	28863632	+	RNA	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr9:28863632T>A	ENST00000401147.1	-	0	72					NR_030597.1																						TGTGAAGCACTATGAATTACT	0.403000													24	24					0	0	0.003954	0	0
DDX23	9416	broad.mit.edu	37	12	49233639	49233639	+	Silent	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:49233639T>C	ENST00000308025.3	-	5	547	c.468A>G	c.(466-468)gaA>gaG	p.E156E	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	156	Glu-rich.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TAGCCTCAGCTTCTTCCTCAG	0.453000													19	27					0	0	0.012319	0	0
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020721	33020721	+	RNA	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr16:33020721C>T	ENST00000565407.2	+	0	129				RP11-19N8.2_ENST00000567619.1_RNA																							CCTGTCCAGCCTCTGGATTCA	0.567000													135	163					0	0	0.003610	0	0
NARS2	79731	broad.mit.edu	37	11	78204233	78204233	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:78204233G>A	ENST00000281038.5	-	7	1073	c.698C>T	c.(697-699)aCt>aTt	p.T233I	NARS2_ENST00000528850.1_Missense_Mutation_p.T6I	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	233					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	AAACACTTGAGTAAAAGCTCT	0.353000													23	31					0	0	0.003954	0	0
APOA4	337	broad.mit.edu	37	11	116692386	116692386	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:116692386C>A	ENST00000357780.3	-	3	502	c.388G>T	c.(388-390)Gag>Tag	p.E130*		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)		tgctgaagctctcgcaggttg	0.667000													11	15					1.58986e-06	1.89934e-06	0.008291	1	0
COL6A2	1292	broad.mit.edu	37	21	47537831	47537831	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr21:47537831G>A	ENST00000300527.4	+	12	1201	c.1097G>A	c.(1096-1098)cGa>cAa	p.R366Q	COL6A2_ENST00000310645.5_Missense_Mutation_p.R366Q|COL6A2_ENST00000357838.4_Missense_Mutation_p.R366Q|COL6A2_ENST00000397763.1_Missense_Mutation_p.R366Q|COL6A2_ENST00000409416.1_Missense_Mutation_p.R366Q	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	366	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCAGGGGAGCGAGGAGACCAA	0.682000													10	18					0	0	0.010729	0	0
SERPINE1	5054	broad.mit.edu	37	7	100773862	100773862	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:100773862C>A	ENST00000223095.4	+	3	589	c.432C>A	c.(430-432)gtC>gtA	p.V144V	SERPINE1_ENST00000445463.2_Silent_p.V129V	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	144					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)	GGAGCACGGTCAAGCAAGTGG	0.537000													116	120					1.01443e-56	2.00959e-56	0.003610	1	0
RIMS2	9699	broad.mit.edu	37	8	104709475	104709475	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:104709475C>A	ENST00000406091.3	+	2	338	c.338C>A	c.(337-339)aCa>aAa	p.T113K		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	144	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TATTGCCAAACAAAGTTCTGT	0.418000										HNSCC(12;0.0054)			42	140					4.18559e-23	7.28839e-23	0.003610	1	0
GPRIN2	9721	broad.mit.edu	37	10	46999723	46999723	+	Missense_Mutation	SNP	G	G	T	rs71265691	byFrequency	TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:46999723G>T	ENST00000374314.4	+	1	1798	c.843G>T	c.(841-843)agG>agT	p.R281S	GPRIN2_ENST00000374317.1_Missense_Mutation_p.R281S			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	281										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TCCACTGTAGGTTGTCTGGGG	0.602000													23	40					5.35047e-06	6.23723e-06	0.003330	1	0
SH2D1B	117157	broad.mit.edu	37	1	162372571	162372571	+	Silent	SNP	T	T	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:162372571T>G	ENST00000367929.2	-	2	265	c.156A>C	c.(154-156)acA>acC	p.T52T	SH2D1B_ENST00000493550.1_5'UTR|SH2D1B_ENST00000359567.3_Silent_p.T52T	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	52	SH2.									kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			AGATTCGGTATGTGTAGACAA	0.368000													7	33					0	0	0.001984	0	0
SECTM1	6398	broad.mit.edu	37	17	80282697	80282697	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:80282697C>A	ENST00000269389.3	-	3	514	c.164G>T	c.(163-165)tGc>tTc	p.C55F	SECTM1_ENST00000580437.1_Missense_Mutation_p.C55F	NM_003004.2	NP_002995.1	Q8WVN6	SCTM1_HUMAN	secreted and transmembrane 1	55					immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular space|Golgi apparatus|integral to membrane|plasma membrane	cytokine activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			GGAGATGTTGCAGGACATGAC	0.602000													3	9					6.4e-05	7.11142e-05	0.004672	1	0
PPM1E	22843	broad.mit.edu	37	17	57057409	57057409	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:57057409T>C	ENST00000308249.2	+	7	1414	c.1285T>C	c.(1285-1287)Tac>Cac	p.Y429H		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	438	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			GACCGAAGACTACCTCATTCT	0.512000													10	25					0	0	0.001855	0	0
UNC80	285175	broad.mit.edu	37	2	210650818	210650818	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:210650818G>T	ENST00000439458.1	+	5	709	c.629G>T	c.(628-630)aGt>aTt	p.S210I	UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Missense_Mutation_p.S210I	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	210						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						CGTCTGGCCAGTGGGCTTGTT	0.502000													23	76					3.5997e-14	5.32092e-14	0.002299	1	0
BMPR1A	657	broad.mit.edu	37	10	88651967	88651967	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:88651967G>T	ENST00000372037.2	+	5	851	c.314G>T	c.(313-315)gGa>gTa	p.G105V		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	105					BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						AAATATGAAGGATCTGATTTT	0.408000			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2				10	15					9.70103e-10	1.26255e-09	0.008291	1	0
C19orf12	83636	broad.mit.edu	37	19	30199321	30199321	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:30199321C>A	ENST00000392278.2	-	2	159	c.33G>T	c.(31-33)acG>acT	p.T11T	C19orf12_ENST00000392275.1_Intron|C19orf12_ENST00000323670.9_5'UTR|C19orf12_ENST00000592153.1_5'UTR|C19orf12_ENST00000392276.1_Intron	NM_001031726.3	NP_001026896.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	0						integral to membrane						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			TGATAGTCATCGTGGCGGGCC	0.517000													30	44					2.20474e-14	3.2822e-14	0.003755	1	0
ARHGAP5	394	broad.mit.edu	37	14	32560934	32560934	+	Silent	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr14:32560934A>G	ENST00000345122.3	+	2	1374	c.1059A>G	c.(1057-1059)ctA>ctG	p.L353L	ARHGAP5_ENST00000432921.1_Silent_p.L353L|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Silent_p.L353L|ARHGAP5_ENST00000539826.2_Silent_p.L353L	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	353					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TGCCAAATCTAGAAGAGATTG	0.328000													40	28					0	0	0.007835	0	0
CEP350	9857	broad.mit.edu	37	1	180062310	180062310	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:180062310A>G	ENST00000367607.3	+	34	7488	c.7070A>G	c.(7069-7071)aAg>aGg	p.K2357R	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2357						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AAGAACACAAAGGAAAAAGAT	0.343000													12	7					0	0	0.010729	0	0
MTRR	4552	broad.mit.edu	37	5	7892928	7892928	+	Missense_Mutation	SNP	G	G	A	rs137853061		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:7892928G>A	ENST00000264668.2	+	11	1570	c.1540G>A	c.(1540-1542)Gga>Aga	p.G514R	MTRR_ENST00000440940.2_Missense_Mutation_p.G487R	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	514	FAD-binding FR-type.		G -> R (in cblE).		methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	TCTGCGGAAGGGAGTATGTAC	0.478000													111	45					0	0	0.003610	0	0
HMG20A	10363	broad.mit.edu	37	15	77771520	77771520	+	Splice_Site	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr15:77771520G>T	ENST00000381714.3	+	10	1335		c.e10-1		HMG20A_ENST00000336216.4_Splice_Site	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A						chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TCTCACTTCAGGAAGTGGAGA	0.378000													8	45					4.68919e-08	5.85331e-08	0.008291	1	0
ZNF688	146542	broad.mit.edu	37	16	30582916	30582916	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr16:30582916C>A	ENST00000223459.6	-	1	1139	c.35G>T	c.(34-36)aGg>aTg	p.R12M	ZNF688_ENST00000395219.1_Intron|ZNF688_ENST00000563707.1_Missense_Mutation_p.R12M|ZNF688_ENST00000567855.1_Missense_Mutation_p.R12M	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CTCCCCGGGCCTCGGCGCCAG	0.776000													3	1					6.4e-05	7.11142e-05	0.004672	1	0
LRRC66	339977	broad.mit.edu	37	4	52861529	52861529	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:52861529C>A	ENST00000343457.3	-	4	1665	c.1659G>T	c.(1657-1659)gtG>gtT	p.V553V		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	553						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						AAGAGACGCCCACTGAATGTG	0.498000													60	15					2.14255e-21	3.65958e-21	0.003610	1	0
DSE	29940	broad.mit.edu	37	6	116752286	116752286	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:116752286C>T	ENST00000331677.3	+	5	1284	c.840C>T	c.(838-840)ttC>ttT	p.F280F	DSE_ENST00000359564.2_Silent_p.F280F|DSE_ENST00000537543.1_Silent_p.F299F|DSE_ENST00000452085.3_Silent_p.F280F			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	280					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AGAGGCACTTCAACATCAACC	0.468000													11	22					0	0	0.008291	0	0
NPAP1	23742	broad.mit.edu	37	15	24921201	24921201	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr15:24921201A>T	ENST00000329468.2	+	1	661	c.187A>T	c.(187-189)Agc>Tgc	p.S63C		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TTCAGCAGCCAGCATCTTCGT	0.731000													14	46					0	0	0.002450	0	0
CD200R1L	344807	broad.mit.edu	37	3	112564525	112564525	+	Splice_Site	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:112564525C>A	ENST00000488794.1	-	2	504		c.e2+1		CD200R1L_ENST00000398214.1_Splice_Site|CD200R1L_ENST00000448932.1_Splice_Site			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like							integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						ATCAGACTTACCAGACACCAT	0.338000													40	43					1.76056e-25	3.1579e-25	0.011902	1	0
TTF1	7270	broad.mit.edu	37	9	135277662	135277662	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr9:135277662C>A	ENST00000334270.2	-	2	586	c.547G>T	c.(547-549)Gca>Tca	p.A183S		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	183	N-terminal region (NRD) (By similarity).				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GTGTCCCTTGCCCGCTGGCTC	0.498000													24	9					5.35356e-11	7.20716e-11	0.002780	1	0
PCDHB15	56121	broad.mit.edu	37	5	140627302	140627302	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:140627302C>A	ENST00000231173.3	+	1	2156	c.2156C>A	c.(2155-2157)gCg>gAg	p.A719E		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		719			A -> V (in a breast cancer sample; somatic mutation).		homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A719V(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAGCAGGGCGGCCTCAGTG	0.647000													120	49					4.9928e-70	1.00176e-69	0.003610	1	0
RBM8A	9939	broad.mit.edu	37	1	145507688	145507688	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:145507688C>T	ENST00000330165.7	+	1	91	c.22C>T	c.(22-24)Cac>Tac	p.H8Y	RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RBM8A_ENST00000369307.3_Missense_Mutation_p.H8Y|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000596355.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000447686.2_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A	8					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	mRNA binding|nucleotide binding|protein binding			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCTAGATCTTCACGAGGCTGG	0.602000											OREG0013748	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	4					0	0	0.003080	0	0
KIAA1210	57481	broad.mit.edu	37	X	118220680	118220680	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chrX:118220680A>T	ENST00000402510.2	-	11	4512	c.4513T>A	c.(4513-4515)Tcg>Acg	p.S1505T		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1505										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						ATTGGGCCCGAGGGCACTGAA	0.488000													15	7					0	0	0.003163	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433718	73433718	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:73433718G>T	ENST00000263666.4	-	10	2113	c.1999C>A	c.(1999-2001)Cct>Act	p.P667T	PDZRN3_ENST00000462146.2_Missense_Mutation_p.P324T|PDZRN3_ENST00000466780.1_Missense_Mutation_p.P324T|PDZRN3_ENST00000535920.1_Missense_Mutation_p.P389T|PDZRN3_ENST00000479530.1_Missense_Mutation_p.P384T	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	667							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGGCCGCTAGGGTAGTACAGG	0.652000													21	93					4.35082e-09	5.58689e-09	0.010504	1	0
RAD51AP1	10635	broad.mit.edu	37	12	4657954	4657954	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:4657954G>T	ENST00000228843.9	+	7	609	c.559G>T	c.(559-561)Ggc>Tgc	p.G187C	RAD51AP1_ENST00000321524.7_Missense_Mutation_p.G187C|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.G52C|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.G170C|RAD51AP1_ENST00000544927.1_Missense_Mutation_p.G170C	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	RAD51 associated protein 1	187					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			TCTTCTGGAAGGCAGTGATGG	0.403000													58	8					3.84483e-29	7.07902e-29	0.003610	1	0
FLG	2312	broad.mit.edu	37	1	152280877	152280877	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:152280877C>G	ENST00000368799.1	-	3	6520	c.6485G>C	c.(6484-6486)gGa>gCa	p.G2162A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2162	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)			CCCTGAGTGTCCAGACCTATC	0.567000									Ichthyosis				244	375					0	0	0.003610	0	0
CSPP1	79848	broad.mit.edu	37	8	68107672	68107672	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:68107672C>T	ENST00000262210.5	+	29	3541	c.3510C>T	c.(3508-3510)gaC>gaT	p.D1170D	CSPP1_ENST00000521168.1_3'UTR|ARFGEF1_ENST00000520381.1_Intron|CSPP1_ENST00000412460.1_Silent_p.D825D	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1205						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TAGGGGATGACGGATCAAACT	0.537000													50	341					0	0	0.003610	0	0
LAMB4	22798	broad.mit.edu	37	7	107704224	107704224	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:107704224G>T	ENST00000388781.3	-	22	3126	c.3043C>A	c.(3043-3045)Ctc>Atc	p.L1015I	LAMB4_ENST00000205386.4_Missense_Mutation_p.L1015I|LAMB4_ENST00000388780.3_Missense_Mutation_p.L1015I	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1015	Laminin EGF-like 10.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GTCTGATTGAGGGCTGATCCA	0.522000													34	143					1.47197e-15	2.2557e-15	0.007835	1	0
FCHSD2	9873	broad.mit.edu	37	11	72598594	72598594	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:72598594C>A	ENST00000409314.1	-	13	1307	c.1139G>T	c.(1138-1140)gGa>gTa	p.G380V	FCHSD2_ENST00000409418.4_Missense_Mutation_p.G356V|FCHSD2_ENST00000409853.1_Missense_Mutation_p.G300V|FCHSD2_ENST00000311172.7_Missense_Mutation_p.G300V|FCHSD2_ENST00000458644.2_Missense_Mutation_p.G220V			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	356							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TACAGCAGCTCCATGACACTC	0.358000													32	62					1.74807e-11	2.37889e-11	0.010818	1	0
RPL31P11	641311	broad.mit.edu	37	1	161654836	161654836	+	RNA	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:161654836C>A	ENST00000426558.1	-	0	206					NR_002595.1																						TTCCCATCTCCTTCATGCCAA	0.512000													11	8					1.61879e-10	2.14696e-10	0.001368	1	0
ZNF423	23090	broad.mit.edu	37	16	49671819	49671819	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr16:49671819G>T	ENST00000561648.1	-	4	1297	c.1244C>A	c.(1243-1245)tCc>tAc	p.S415Y	ZNF423_ENST00000563137.2_Missense_Mutation_p.S355Y|ZNF423_ENST00000562520.1_Missense_Mutation_p.S355Y|ZNF423_ENST00000567169.1_Missense_Mutation_p.S298Y|ZNF423_ENST00000535559.1_Missense_Mutation_p.S298Y|ZNF423_ENST00000562871.1_Missense_Mutation_p.S355Y|ZNF423_ENST00000262383.2_Missense_Mutation_p.S415Y	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	415					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)				GTCCCGCTTGGAACAATAGGG	0.612000													19	33					5.03518e-11	6.78584e-11	0.007413	1	0
IGHV4-31	28396	broad.mit.edu	37	14	106805611	106805611	+	RNA	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr14:106805611C>A	ENST00000438142.2	-	0	105																											CTGGGAGCTGCCACCAGCAGG	0.532000													22	49					3.99451e-17	6.35467e-17	0.009535	1	0
TMEM132B	114795	broad.mit.edu	37	12	126135290	126135290	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:126135290C>T	ENST00000299308.3	+	7	1698	c.1690C>T	c.(1690-1692)Cag>Tag	p.Q564*	TMEM132B_ENST00000535886.1_Nonsense_Mutation_p.Q76*	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	564						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CTGCTCCCTGCAGTACCAGCA	0.572000													21	54					0	0	0.002299	0	0
CCDC135	84229	broad.mit.edu	37	16	57752386	57752386	+	Splice_Site	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr16:57752386T>C	ENST00000360716.3	+	9	1426	c.1206_splice	c.e9+1	p.L402_splice	CCDC135_ENST00000336825.8_Splice_Site_p.L337_splice|CCDC135_ENST00000394337.4_Splice_Site_p.L402_splice			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	402						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GTGGAAAATCTGGTGAGTCTC	0.537000													63	28					0	0	0.003610	0	0
TRPM1	4308	broad.mit.edu	37	15	31353687	31353687	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr15:31353687G>A	ENST00000542188.1	-	9	1484	c.1171C>T	c.(1171-1173)Cag>Tag	p.Q391*	TRPM1_ENST00000256552.6_Nonsense_Mutation_p.Q374*|TRPM1_ENST00000397795.2_Nonsense_Mutation_p.Q352*	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	352					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ATGTCCTGCTGGCCCTCAGAA	0.468000													4	32					0	0	0.009096	0	0
OR6N2	81442	broad.mit.edu	37	1	158747146	158747146	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:158747146A>T	ENST00000339258.1	-	1	279	c.280T>A	c.(280-282)Ttt>Att	p.F94I		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					CATCCTGCAAAAGAAATGGTT	0.443000													32	78					0	0	0.008361	0	0
FBXL7	23194	broad.mit.edu	37	5	15936989	15936989	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:15936989G>T	ENST00000504595.1	+	4	1651	c.1170G>T	c.(1168-1170)acG>acT	p.T390T	FBXL7_ENST00000329673.7_Silent_p.T378T|FBXL7_ENST00000510662.1_Silent_p.T343T	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	390					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						AGGGCATCACGGACCACGGTG	0.627000													24	29					3.83957e-06	4.50529e-06	0.002780	1	0
CCDC63	160762	broad.mit.edu	37	12	111319093	111319093	+	Missense_Mutation	SNP	G	G	C	rs143591206		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:111319093G>C	ENST00000308208.5	+	7	1088	c.846G>C	c.(844-846)agG>agC	p.R282S	CCDC63_ENST00000545036.1_Missense_Mutation_p.R242S|CCDC63_ENST00000552694.1_Missense_Mutation_p.R203S	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	282										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						AGGCCAAAAGGGAGGAAGGTA	0.507000													13	22					0	0	0.001855	0	0
FAM98A	25940	broad.mit.edu	37	2	33810093	33810093	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:33810093C>G	ENST00000238823.8	-	8	1447	c.1307G>C	c.(1306-1308)gGa>gCa	p.G436A	FAM98A_ENST00000403368.1_3'UTR|FAM98A_ENST00000441530.2_Missense_Mutation_p.G241A			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	437	Gly-rich.									NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					ACCCTGGTATCCACTTCCTGT	0.567000													54	51					0	0	0.003610	0	0
FAM9B	171483	broad.mit.edu	37	X	9000422	9000422	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chrX:9000422C>A	ENST00000362066.3	-	2	432	c.244G>T	c.(244-246)Ggg>Tgg	p.G82W	FAM9B_ENST00000327220.5_Missense_Mutation_p.G37W|FAM9B_ENST00000428477.1_Missense_Mutation_p.G37W			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	37						nucleus				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				TCTCTTTCCCCATGCTCATCA	0.413000													46	28					1.06522e-23	1.87575e-23	0.013114	1	0
CKAP4	10970	broad.mit.edu	37	12	106633389	106633389	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:106633389C>A	ENST00000378026.4	-	2	1358	c.1222G>T	c.(1222-1224)Gga>Tga	p.G408*		NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	408						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						GAGTCCAGTCCCTGACTCTTT	0.627000													46	49					8.72198e-27	1.57802e-26	0.003610	1	0
OR4L1	122742	broad.mit.edu	37	14	20529046	20529046	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr14:20529046A>T	ENST00000315683.1	+	1	843	c.843A>T	c.(841-843)ttA>ttT	p.L281F		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TCACACCCTTACTGAATCCGA	0.353000													9	20					0	0	0.001368	0	0
ING1	3621	broad.mit.edu	37	13	111367799	111367799	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr13:111367799C>T	ENST00000375774.3	+	1	471	c.9C>T	c.(7-9)ttC>ttT	p.F3F	ING1_ENST00000333219.7_Intron|ING1_ENST00000375775.3_Intron|ING1_ENST00000338450.7_Intron|ING1_ENST00000464141.1_3'UTR	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	3					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGATGTCCTTCGTGGAATGTC	0.527000													28	31					0	0	0.006320	0	0
NF1	4763	broad.mit.edu	37	17	29548883	29548883	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:29548883C>T	ENST00000358273.4	+	15	2040	c.1657C>T	c.(1657-1659)Cat>Tat	p.H553Y	NF1_ENST00000356175.3_Missense_Mutation_p.H553Y|NF1_ENST00000431387.4_Missense_Mutation_p.H553Y	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	553					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCTGGTTCTTCATCAGTTAGA	0.303000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			18	5					0	0	0.010504	0	0
LMX1A	4009	broad.mit.edu	37	1	165175220	165175220	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:165175220T>A	ENST00000342310.3	-	8	1251	c.869A>T	c.(868-870)tAc>tTc	p.Y290F	LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_Missense_Mutation_p.Y290F|LMX1A_ENST00000367893.4_Missense_Mutation_p.Y290F	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	290						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CAGAGCCGTGTAGGGGTTCAT	0.582000													36	37					0	0	0.006999	0	0
LRP2	4036	broad.mit.edu	37	2	169997053	169997053	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:169997053T>C	ENST00000263816.3	-	72	13396	c.13111A>G	c.(13111-13113)Atc>Gtc	p.I4371V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4371					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)	GGCAGTTCGATGGCTGCAGGA	0.552000													10	34					0	0	0.006214	0	0
FAM171B	165215	broad.mit.edu	37	2	187605149	187605149	+	Missense_Mutation	SNP	G	G	C	rs139449443		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:187605149G>C	ENST00000304698.5	+	2	636	c.433G>C	c.(433-435)Gtg>Ctg	p.V145L		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	145						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AGATGGCTACGTGTTGACCCC	0.343000													5	12					0	0	0.000602	0	0
PCDHA1	56147	broad.mit.edu	37	5	140166961	140166961	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:140166961C>T	ENST00000504120.2	+	1	1086	c.1086C>T	c.(1084-1086)gaC>gaT	p.D362D	PCDHA1_ENST00000378133.3_Silent_p.D362D|PCDHA1_ENST00000394633.3_Silent_p.D362D	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGAGAGGACGCTCCACTCA	0.517000													31	9					0	0	0.008361	0	0
NUDT22	84304	broad.mit.edu	37	11	63995073	63995073	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:63995073G>C	ENST00000279206.3	+	3	670	c.514G>C	c.(514-516)Gac>Cac	p.D172H	NUDT22_ENST00000441250.2_Intron	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720.1	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	172	Nudix hydrolase.						hydrolase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						CCAGCACCAGGACCTCGCTGG	0.612000													10	70					0	0	0.001368	0	0
BTBD3	22903	broad.mit.edu	37	20	11903919	11903919	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr20:11903919G>C	ENST00000405977.1	+	5	1799	c.1174G>C	c.(1174-1176)Ggt>Cgt	p.G392R	BTBD3_ENST00000399006.2_Missense_Mutation_p.G331R|BTBD3_ENST00000254977.3_Missense_Mutation_p.G331R|BTBD3_ENST00000378226.2_Missense_Mutation_p.G392R			Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	392										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						GCGCTATCGTGGTCGCTGTGA	0.522000													21	41					0	0	0.008871	0	0
GPR26	2849	broad.mit.edu	37	10	125426162	125426162	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:125426162G>C	ENST00000284674.1	+	1	292	c.239G>C	c.(238-240)cGc>cCc	p.R80P		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	80					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)				CGCCTGTGCCGCCTGGCTGCC	0.701000													7	1					0	0	0.001984	0	0
OR6N1	128372	broad.mit.edu	37	1	158735734	158735734	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:158735734C>G	ENST00000335094.2	-	1	758	c.739G>C	c.(739-741)Gtg>Ctg	p.V247L		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					ATGAGAACCACAGTGAAGTGG	0.532000													62	52					0	0	0.003610	0	0
COL6A3	1293	broad.mit.edu	37	2	238253296	238253296	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:238253296G>T	ENST00000295550.4	-	36	7817	c.7365C>A	c.(7363-7365)acC>acA	p.T2455T	COL6A3_ENST00000472056.1_Silent_p.T1848T|COL6A3_ENST00000346358.4_Silent_p.T2255T|COL6A3_ENST00000347401.3_Silent_p.T2254T|COL6A3_ENST00000353578.4_Silent_p.T2249T|COL6A3_ENST00000409809.1_Silent_p.T2249T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2455	Nonhelical region.|VWFA 11.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGATCTCCGTGGTCACCTCGT	0.547000													26	66					3.28513e-13	4.67916e-13	0.003954	1	0
PADI3	51702	broad.mit.edu	37	1	17603297	17603297	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:17603297G>T	ENST00000375460.3	+	13	1521	c.1481G>T	c.(1480-1482)gGg>gTg	p.G494V		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	494					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GCCAGCCCTGGGGCCTGCTTC	0.627000													3	16					0.00909568	0.0094583	0.009096	1	0
NRCAM	4897	broad.mit.edu	37	7	107818536	107818536	+	Missense_Mutation	SNP	A	A	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:107818536A>C	ENST00000379028.3	-	26	3343	c.2873T>G	c.(2872-2874)tTg>tGg	p.L958W	NRCAM_ENST00000413765.2_Missense_Mutation_p.L939W|NRCAM_ENST00000379022.4_Missense_Mutation_p.L958W|NRCAM_ENST00000379024.4_Missense_Mutation_p.L939W|NRCAM_ENST00000425651.2_Missense_Mutation_p.L958W|NRCAM_ENST00000351718.4_Missense_Mutation_p.L942W			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	958	Fibronectin type-III 4.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CACAATCTTCAAAGACGAGGG	0.438000													28	7					0	0	0.006320	0	0
SPP1	6696	broad.mit.edu	37	4	88898093	88898093	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:88898093G>T	ENST00000237623.7	+	2	194	c.46G>T	c.(46-48)Gcc>Tcc	p.A16S	SPP1_ENST00000360804.4_Missense_Mutation_p.A16S|SPP1_ENST00000395080.3_Missense_Mutation_p.A16S|SPP1_ENST00000509659.1_3'UTR	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	16					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		CATCACCTGTGCCATACCAGT	0.388000													8	8					0.00307968	0.0032538	0.003080	1	0
CHML	1122	broad.mit.edu	37	1	241797805	241797805	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:241797805T>C	ENST00000366553.1	-	1	1427	c.1264A>G	c.(1264-1266)Ata>Gta	p.I422V	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	422					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			AAGTGATCTATAATTGCTTTA	0.353000													33	8					0	0	0.009535	0	0
CR2	1380	broad.mit.edu	37	1	207651379	207651379	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:207651379C>A	ENST00000367057.3	+	16	3241	c.3052C>A	c.(3052-3054)Cac>Aac	p.H1018N	CR2_ENST00000458541.2_Missense_Mutation_p.H932N|CR2_ENST00000367059.3_Missense_Mutation_p.H897N|CR2_ENST00000367058.3_Missense_Mutation_p.H959N	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	959					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CCAATCGGATCACCAATGGAA	0.522000													6	6					0.00116845	0.00124079	0.001168	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28307054	28307054	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr21:28307054C>A	ENST00000284987.5	-	4	1541	c.1420G>T	c.(1420-1422)Gac>Tac	p.D474Y	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	474	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CGTGGTAGGTCCAGCAAACAG	0.507000													27	7					8.58068e-18	1.3862e-17	0.007291	1	0
NPHS1	4868	broad.mit.edu	37	19	36322587	36322587	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:36322587C>A	ENST00000378910.5	-	24	3243	c.3244G>T	c.(3244-3246)Ggg>Tgg	p.G1082W	NPHS1_ENST00000353632.6_Intron	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1082					cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGACCCCCCCGACACAGGAG	0.652000													7	10					0.000157383	0.000171941	0.003080	1	0
MYO18B	84700	broad.mit.edu	37	22	26423063	26423063	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr22:26423063C>A	ENST00000335473.7	+	43	7373	c.7123C>A	c.(7123-7125)Ctg>Atg	p.L2375M	MYO18B_ENST00000407587.2_Missense_Mutation_p.L2376M|MYO18B_ENST00000536101.1_Missense_Mutation_p.L2375M	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2375						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAGGGACATGCTGTTGTCGCC	0.567000													61	21					3.79397e-19	6.26656e-19	0.003610	1	0
DDN	23109	broad.mit.edu	37	12	49390743	49390743	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:49390743C>A	ENST00000421952.2	-	2	1937	c.1916G>T	c.(1915-1917)gGc>gTc	p.G639V		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	639	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						ATCAGAGGAGCCGCTATGGAC	0.657000											OREG0021778	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	6					0.000157383	0.000171941	0.003080	1	0
VAMP4	8674	broad.mit.edu	37	1	171679938	171679938	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:171679938C>A	ENST00000236192.7	-	5	567	c.181G>T	c.(181-183)Gat>Tat	p.D61Y	VAMP4_ENST00000367740.2_Missense_Mutation_p.D60Y|VAMP4_ENST00000415773.1_Missense_Mutation_p.D60Y|VAMP4_ENST00000482519.1_5'UTR	NM_001185127.1|NM_003762.4	NP_001172056.1|NP_003753.2	O75379	VAMP4_HUMAN	vesicle-associated membrane protein 4	61	v-SNARE coiled-coil homology.				vesicle-mediated transport	endosome|Golgi membrane|integral to membrane|lysosome				large_intestine(4)	4	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ATAACTTCATCCACTTGATTC	0.303000													16	56					2.31682e-05	2.62266e-05	0.003163	1	0
MUC16	94025	broad.mit.edu	37	19	9088131	9088131	+	Silent	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:9088131T>A	ENST00000397910.4	-	1	3887	c.3684A>T	c.(3682-3684)tcA>tcT	p.S1228S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1228	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGCCTCCAATGATGTGGCTG	0.512000													151	62					0	0	0.003610	0	0
KCNB2	9312	broad.mit.edu	37	8	73849053	73849053	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:73849053C>T	ENST00000523207.1	+	3	2051	c.1463C>T	c.(1462-1464)tCg>tTg	p.S488L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	488					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AATCACCTGTCGCCAAGCCGG	0.527000													20	236					0	0	0.012319	0	0
STRA8	346673	broad.mit.edu	37	7	134939889	134939889	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:134939889C>A	ENST00000275764.3	+	8	830	c.830C>A	c.(829-831)cCa>cAa	p.P277Q		NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN	stimulated by retinoic acid 8	277					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						AGCTGCAACCCAGAAAACCCA	0.443000													49	58					1.32667e-27	2.42481e-27	0.003610	1	0
ERCC5	2073	broad.mit.edu	37	13	103514550	103514550	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr13:103514550G>T	ENST00000355739.4	+	8	2474	c.1051G>T	c.(1051-1053)Gcc>Tcc	p.A351S	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.C776F	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TATGCAAGCTGCCCTGCTGGG	0.512000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				24	41					9.95505e-16	1.53683e-15	0.002299	1	0
FNDC1	84624	broad.mit.edu	37	6	159653822	159653822	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:159653822C>T	ENST00000297267.9	+	11	2478	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W	FNDC1_ENST00000340366.6_Missense_Mutation_p.R697W	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	760	Ser-rich.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGCGCCATCACGGTCCACCAT	0.622000													18	20					0	0	0.008871	0	0
TBC1D4	9882	broad.mit.edu	37	13	75884154	75884154	+	Silent	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr13:75884154C>G	ENST00000377636.3	-	14	2863	c.2517G>C	c.(2515-2517)ctG>ctC	p.L839L	TBC1D4_ENST00000377625.2_Silent_p.L776L|TBC1D4_ENST00000425511.1_Silent_p.L56L|TBC1D4_ENST00000431480.2_Silent_p.L831L	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	839						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		ACAAGCTCCTCAGTTCTTTTG	0.418000													11	30					0	0	0.008291	0	0
BRWD3	254065	broad.mit.edu	37	X	79960239	79960239	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chrX:79960239C>A	ENST00000373275.4	-	23	2875	c.2659G>T	c.(2659-2661)Gat>Tat	p.D887Y	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	887										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTTTCCTCATCAGAGCTGCTG	0.348000													23	6					1.55795e-14	2.32485e-14	0.012319	1	0
SCCPDH	51097	broad.mit.edu	37	1	246890200	246890200	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:246890200C>A	ENST00000366510.3	+	2	573	c.197C>A	c.(196-198)cCa>cAa	p.P66Q		NM_016002.2	NP_057086.2	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	66						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		TTAGGAAGACCAACACTGTCA	0.368000													5	21					0.000602214	0.000646077	0.000602	1	0
ENPEP	2028	broad.mit.edu	37	4	111464189	111464189	+	Missense_Mutation	SNP	C	C	A	rs139405480		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:111464189C>A	ENST00000265162.5	+	13	2305	c.1963C>A	c.(1963-1965)Cgt>Agt	p.R655S		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	655					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)	TTCAGCAGATCGTGCAAGTCT	0.333000													27	11					8.53417e-09	1.08696e-08	0.002836	1	0
ZNF645	158506	broad.mit.edu	37	X	22291375	22291375	+	Silent	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chrX:22291375A>T	ENST00000323684.1	+	1	311	c.267A>T	c.(265-267)ggA>ggT	p.G89G		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	89						intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						ACAAAGTCGGATATAAAGTAT	0.403000													23	15					0	0	0.003954	0	0
PSD4	23550	broad.mit.edu	37	2	113950125	113950125	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:113950125G>T	ENST00000245796.6	+	6	1992	c.1797G>T	c.(1795-1797)gaG>gaT	p.E599D	PSD4_ENST00000441564.2_Missense_Mutation_p.E571D	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	599	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCGCCTGGAGGGCTTCCGGA	0.597000													21	20					4.63292e-17	7.35161e-17	0.008871	1	0
RHEBL1	121268	broad.mit.edu	37	12	49459156	49459156	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:49459156C>A	ENST00000301068.6	-	7	678	c.439G>T	c.(439-441)Gag>Tag	p.E147*		NM_144593.1	NP_653194.1	Q8TAI7	REBL1_HUMAN	Ras homolog enriched in brain like 1	147					positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade	cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding			breast(2)|large_intestine(2)|lung(5)	9						GCAGATGACTCCATAAATGTC	0.478000													84	96					4.31119e-35	8.21553e-35	0.003610	1	0
CPB2	1361	broad.mit.edu	37	13	46648091	46648091	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr13:46648091C>A	ENST00000181383.4	-	6	524	c.508G>T	c.(508-510)Gcc>Tcc	p.A170S	CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.A170S	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	170					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		GCATTTTTGGCTGCTTGTTCT	0.383000													12	5					6.40141e-05	7.11142e-05	0.010729	1	0
RNF165	494470	broad.mit.edu	37	18	44030685	44030685	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr18:44030685G>T	ENST00000269439.7	+	6	790	c.739G>T	c.(739-741)Gac>Tac	p.D247Y	RNF165_ENST00000543885.1_Missense_Mutation_p.D55Y	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	247							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		GCAGCTCGAGGACAGGTTGGG	0.522000													23	31					4.59853e-10	6.0413e-10	0.005443	1	0
SP140	11262	broad.mit.edu	37	2	231106193	231106193	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:231106193G>T	ENST00000392045.3	+	4	595	c.481G>T	c.(481-483)Ggt>Tgt	p.G161C	SP140_ENST00000350136.5_Missense_Mutation_p.G141C|SP140_ENST00000486687.2_Missense_Mutation_p.G161C|SP140_ENST00000417495.3_Missense_Mutation_p.G161C|SP140_ENST00000343805.6_Missense_Mutation_p.G161C|SP140_ENST00000420434.3_Missense_Mutation_p.G161C	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	161					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ACTACCATATGGTAAACAAGG	0.363000													11	11					0.000978159	0.00104404	0.010729	1	0
EIF2B2	8892	broad.mit.edu	37	14	75469831	75469831	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr14:75469831C>T	ENST00000266126.5	+	1	218	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	46					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		GCCAGATCATCACGGACCACC	0.667000													8	33					0	0	0.003080	0	0
GANAB	23193	broad.mit.edu	37	11	62400735	62400735	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:62400735C>A	ENST00000346178.4	-	8	720	c.705G>T	c.(703-705)gaG>gaT	p.E235D	GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000534779.1_Missense_Mutation_p.E121D|GANAB_ENST00000540933.1_Missense_Mutation_p.E116D|GANAB_ENST00000356638.3_Missense_Mutation_p.E213D	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	213					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TCCCCTGAGTCTCCTCTGGCT	0.527000													66	68					9.65139e-37	1.84764e-36	0.003610	1	0
GPR158	57512	broad.mit.edu	37	10	25839917	25839917	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:25839917T>C	ENST00000376351.3	+	6	1776	c.1417T>C	c.(1417-1419)Tac>Cac	p.Y473H		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	473						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGTTATTTTGTACTTTGAGCC	0.423000													11	44					0	0	0.010729	0	0
PDLIM7	9260	broad.mit.edu	37	5	176923490	176923490	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:176923490C>T	ENST00000355841.2	-	2	90	c.24G>A	c.(22-24)ctG>ctA	p.L8L	PDLIM7_ENST00000359895.2_Silent_p.L8L|PDLIM7_ENST00000393551.1_Silent_p.L8L|RP11-1334A24.6_ENST00000506025.1_RNA|PDLIM7_ENST00000356618.4_Silent_p.L8L|PDLIM7_ENST00000355572.2_Silent_p.L8L	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	8	PDZ.				cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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)			CTGGCCCCTCCAGCACTACTT	0.642000													5	5					0	0	0.000602	0	0
SLC4A10	57282	broad.mit.edu	37	2	162751263	162751263	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:162751263G>T	ENST00000375514.5	+	11	1499	c.1212G>T	c.(1210-1212)caG>caT	p.Q404H	SLC4A10_ENST00000421911.1_Missense_Mutation_p.Q423H|SLC4A10_ENST00000272716.5_Missense_Mutation_p.Q393H|SLC4A10_ENST00000415876.2_Missense_Mutation_p.Q393H|SLC4A10_ENST00000535165.1_Missense_Mutation_p.R394M|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000446997.1_Missense_Mutation_p.Q423H	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	423					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTCTGGATCAGGTTACTGTTC	0.363000													25	44					1.64293e-13	2.37523e-13	0.003330	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121653039	121653039	+	Silent	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:121653039T>A	ENST00000393386.2	+	12	4350	c.3939T>A	c.(3937-3939)gcT>gcA	p.A1313A	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_3'UTR	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1313					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			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						ATGTATTTGCTACACCTGTTT	0.373000													18	13					0	0	0.007413	0	0
VSTM2A	222008	broad.mit.edu	37	7	54617822	54617822	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:54617822C>T	ENST00000302287.3	+	4	999	c.593C>T	c.(592-594)cCt>cTt	p.P198L	VSTM2A_ENST00000404951.1_Missense_Mutation_p.P198L|VSTM2A_ENST00000407838.3_Missense_Mutation_p.P198L|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000402026.2_Missense_Mutation_p.P197L|VSTM2A_ENST00000402613.3_Missense_Mutation_p.P198L			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	198						extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			ACCTCCAGCCCTCAAGTGGTA	0.522000													13	10					0	0	0.002450	0	0
MYPN	84665	broad.mit.edu	37	10	69881364	69881364	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:69881364C>T	ENST00000358913.5	+	2	657	c.169C>T	c.(169-171)Caa>Taa	p.Q57*	MYPN_ENST00000373675.3_Nonsense_Mutation_p.Q57*|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Nonsense_Mutation_p.Q57*	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	57	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AGGCGGAGGCCAAGATGACCT	0.527000													20	44					0	0	0.010504	0	0
MYH2	4620	broad.mit.edu	37	17	10428089	10428089	+	Silent	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:10428089G>C	ENST00000245503.5	-	34	5340	c.4956C>G	c.(4954-4956)acC>acG	p.T1652T	MYH2_ENST00000397183.2_Silent_p.T1652T|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1652					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						GGATGCCTTGGGTGTTCCTGT	0.502000													50	54					0	0	0.003610	0	0
GRID2	2895	broad.mit.edu	37	4	94436514	94436514	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:94436514C>A	ENST00000282020.4	+	13	2403	c.2145C>A	c.(2143-2145)agC>agA	p.S715R	GRID2_ENST00000510992.1_Missense_Mutation_p.S620R	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	715					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)	TCAACCGAAGCAATGGATCGG	0.468000													5	22					3.59834e-05	4.06599e-05	0.001168	1	0
FAM71C	196472	broad.mit.edu	37	12	100042044	100042044	+	Missense_Mutation	SNP	A	A	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:100042044A>C	ENST00000324341.1	+	1	514	c.92A>C	c.(91-93)cAa>cCa	p.Q31P	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	31										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		CTGCAGCGGCAACTGTACAAA	0.493000													44	57					0	0	0.010771	0	0
PHLPP1	23239	broad.mit.edu	37	18	60612425	60612425	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr18:60612425G>A	ENST00000400316.4	+	12	3490	c.1709G>A	c.(1708-1710)tGc>tAc	p.C570Y	PHLPP1_ENST00000262719.5_Missense_Mutation_p.C1082Y	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1082	PH.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						ATCATGAATTGCAGGCGCATG	0.428000													39	14					0	0	0.004289	0	0
MYEF2	50804	broad.mit.edu	37	15	48444431	48444431	+	Splice_Site	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr15:48444431C>A	ENST00000324324.7	-	11	1417	c.1138_splice	c.e11+1	p.G380_splice	MYEF2_ENST00000267836.6_Splice_Site_p.G380_splice	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	380	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TTATACATACCTCCTCCAATT	0.299000													42	43					7.88023e-25	1.40542e-24	0.003610	1	0
LRRTM3	347731	broad.mit.edu	37	10	68686953	68686953	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:68686953C>A	ENST00000361320.4	+	2	857	c.279C>A	c.(277-279)gaC>gaA	p.D93E	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	93						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TATACCTTGACCATAACCATA	0.378000													39	37					5.71845e-15	8.64674e-15	0.005524	1	0
OR5D18	219438	broad.mit.edu	37	11	55587400	55587400	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:55587400G>T	ENST00000333976.4	+	1	315	c.295G>T	c.(295-297)Gta>Tta	p.V99L		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TTTAGGATGCGTAGTACAATT	0.428000													37	119					1.30998e-17	2.11081e-17	0.005524	1	0
DENND5B	160518	broad.mit.edu	37	12	31577523	31577523	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:31577523G>T	ENST00000389082.5	-	10	2601	c.2337C>A	c.(2335-2337)gcC>gcA	p.A779A	DENND5B_ENST00000306833.6_Silent_p.A814A|DENND5B_ENST00000536562.1_Silent_p.A814A	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	779	RUN 1.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CACAAAGGCTGGCGATCAAGG	0.537000													84	23					7.2426e-40	1.39934e-39	0.003610	1	0
KCNJ3	3760	broad.mit.edu	37	2	155555868	155555868	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:155555868T>A	ENST00000295101.2	+	1	1058	c.581T>A	c.(580-582)cTc>cAc	p.L194H	KCNJ3_ENST00000544049.1_Missense_Mutation_p.L194H	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	194					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GCCGAGACCCTCATGTTCAGC	0.597000													16	65					0	0	0.004007	0	0
OR4N2	390429	broad.mit.edu	37	14	20296176	20296176	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr14:20296176C>A	ENST00000315947.1	+	1	569	c.569C>A	c.(568-570)aCc>aAc	p.T190N	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGGCCTGCACCGACACATTT	0.522000													32	44					1.08312e-15	1.66389e-15	0.009535	1	0
ABI3	51225	broad.mit.edu	37	17	47295236	47295236	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:47295236C>A	ENST00000225941.1	+	3	919	c.421C>A	c.(421-423)Ctc>Atc	p.L141I	ABI3_ENST00000419580.2_Missense_Mutation_p.L135I	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512.1	Q9P2A4	ABI3_HUMAN	ABI family, member 3	141					cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CAGGAGACCCCTCAACTTTGG	0.637000										HNSCC(55;0.14)			55	13					1.59911e-31	2.99266e-31	0.003610	1	0
NSD1	64324	broad.mit.edu	37	5	176696757	176696757	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:176696757G>A	ENST00000439151.2	+	16	5503	c.5458G>A	c.(5458-5460)Gtg>Atg	p.V1820M	NSD1_ENST00000361032.4_Missense_Mutation_p.V1717M|NSD1_ENST00000354179.4_Missense_Mutation_p.V1551M|NSD1_ENST00000347982.4_Missense_Mutation_p.V1551M	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1820					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		GGAGGGTGACGTGAGCAGCAA	0.453000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			18	64					0	0	0.007413	0	0
LRP1B	53353	broad.mit.edu	37	2	141625381	141625381	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:141625381G>T	ENST00000389484.3	-	27	5328	c.4357C>A	c.(4357-4359)Ctc>Atc	p.L1453I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1453					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)		CCATCATAGAGGGCTGAATAA	0.388000										TSP Lung(27;0.18)			19	35					1.01871e-10	1.36118e-10	0.008871	1	0
PELO	53918	broad.mit.edu	37	5	52096767	52096767	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:52096767G>T	ENST00000274311.2	+	2	1524	c.539G>T	c.(538-540)cGg>cTg	p.R180L	ITGA1_ENST00000282588.6_Intron|ITGA1_ENST00000504086.1_Intron|PELO_ENST00000506949.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	180					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				CAGCATGACCGGGCCTTGGAG	0.542000													51	53					2.6238e-40	5.08513e-40	0.003610	1	0
MYH6	4624	broad.mit.edu	37	14	23871692	23871692	+	Silent	SNP	C	C	A	rs148091079		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr14:23871692C>A	ENST00000405093.3	-	12	1192	c.1122G>T	c.(1120-1122)gcG>gcT	p.A374A	MYH6_ENST00000356287.3_Silent_p.A374A	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	374	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CGTCTGGCTCCGCCTGCTCCT	0.617000													47	45					4.10826e-27	7.47608e-27	0.003610	1	0
KCNQ2	3785	broad.mit.edu	37	20	62076037	62076037	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr20:62076037C>A	ENST00000354587.3	-	4	841	c.665G>T	c.(664-666)gGc>gTc	p.G222V	KCNQ2_ENST00000370224.1_Missense_Mutation_p.G222V|KCNQ2_ENST00000370226.1_Missense_Mutation_p.G222V|KCNQ2_ENST00000370222.3_Missense_Mutation_p.G222V|KCNQ2_ENST00000360480.3_Missense_Mutation_p.G222V|KCNQ2_ENST00000344462.3_Missense_Mutation_p.G222V|KCNQ2_ENST00000359125.2_Missense_Mutation_p.G222V|KCNQ2_ENST00000430658.1_Missense_Mutation_p.G222V|KCNQ2_ENST00000344425.5_Missense_Mutation_p.G222V|KCNQ2_ENST00000357249.2_Missense_Mutation_p.G222V|KCNQ2_ENST00000359689.1_Missense_Mutation_p.G222V|KCNQ2_ENST00000370221.1_Missense_Mutation_p.G222V			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	222					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GACCACAGAGCCCAGCAGCTT	0.687000													9	6					1.12685e-05	1.29552e-05	0.004482	1	0
NUP210	23225	broad.mit.edu	37	3	13420447	13420447	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:13420447T>C	ENST00000254508.5	-	8	1092	c.1010A>G	c.(1009-1011)aAc>aGc	p.N337S		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	337					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GATAGTGCTGTTGGGTAACCT	0.468000													46	22					0	0	0.003610	0	0
LIPC	3990	broad.mit.edu	37	15	58830623	58830623	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr15:58830623G>T	ENST00000414170.3	+	3	467	c.180G>T	c.(178-180)caG>caT	p.Q60H	LIPC_ENST00000356113.6_Missense_Mutation_p.Q60H|LIPC_ENST00000433326.2_Missense_Mutation_p.Q60H|LIPC_ENST00000299022.5_Missense_Mutation_p.Q60H			P11150	LIPC_HUMAN	lipase, hepatic	60					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)		AAACCAATCAGGGCTGTCAGA	0.483000													33	114					5.60225e-13	7.9524e-13	0.009535	1	0
PRAMEF11	440560	broad.mit.edu	37	1	12885036	12885036	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:12885036G>T	ENST00000535591.1	-	4	1270	c.1075C>A	c.(1075-1077)Ctg>Atg	p.L359M		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	359										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GTGTGGCTCAGCAGGTTCTCC	0.537000													71	217					2.1672e-28	3.97266e-28	0.003610	1	0
CLCA2	9635	broad.mit.edu	37	1	86900349	86900349	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:86900349C>T	ENST00000370565.4	+	6	1055	c.893C>T	c.(892-894)cCt>cTt	p.P298L		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	298					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GAGCTTCCACCTCCTCCCACA	0.488000													31	48					0	0	0.003271	0	0
SEMA4A	64218	broad.mit.edu	37	1	156146585	156146585	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:156146585C>T	ENST00000368285.3	+	15	2350	c.2083C>T	c.(2083-2085)Ctt>Ttt	p.L695F	SEMA4A_ENST00000355014.2_Missense_Mutation_p.L695F|SEMA4A_ENST00000368284.1_Missense_Mutation_p.L563F|SEMA4A_ENST00000368282.1_Missense_Mutation_p.L695F|SEMA4A_ENST00000368286.2_Missense_Mutation_p.L563F	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	695					axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TGCCTTAGTGCTTTCAGGAGC	0.637000													19	60					0	0	0.002780	0	0
MCTP1	79772	broad.mit.edu	37	5	94353140	94353140	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:94353140C>T	ENST00000515393.1	-	2	768	c.769G>A	c.(769-771)Gat>Aat	p.D257N	MCTP1_ENST00000505208.1_Missense_Mutation_p.D36N|MCTP1_ENST00000429576.2_Missense_Mutation_p.D36N|MCTP1_ENST00000312216.8_Missense_Mutation_p.D36N	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	257	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		ATTCCGGGATCAGCCAAGGGG	0.378000													30	14					0	0	0.002836	0	0
USH2A	7399	broad.mit.edu	37	1	216172274	216172274	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:216172274C>A	ENST00000366943.2	-	34	6998	c.6612G>T	c.(6610-6612)atG>atT	p.M2204I	USH2A_ENST00000307340.3_Missense_Mutation_p.M2204I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2204	Fibronectin type-III 8.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			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)		CGTATTGTAGCATATGATCCT	0.368000										HNSCC(13;0.011)			11	22					2.80697e-09	3.61929e-09	0.010729	1	0
USH2A	7399	broad.mit.edu	37	1	216019345	216019345	+	Missense_Mutation	SNP	T	T	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:216019345T>G	ENST00000366943.2	-	45	9262	c.8876A>C	c.(8875-8877)tAt>tCt	p.Y2959S	USH2A_ENST00000307340.3_Missense_Mutation_p.Y2959S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2959	Fibronectin type-III 16.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			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)		AAGTGTGTAATATTCAACTTC	0.393000										HNSCC(13;0.011)			20	9					0	0	0.012319	0	0
STEAP1	26872	broad.mit.edu	37	7	89790487	89790487	+	Silent	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:89790487A>G	ENST00000297205.2	+	3	653	c.453A>G	c.(451-453)ccA>ccG	p.P151P	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	151	Ferric oxidoreductase.				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					AGAAGTTTCCACATTGGTTGG	0.403000													18	55					0	0	0.007413	0	0
HHIPL2	79802	broad.mit.edu	37	1	222712052	222712052	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:222712052G>A	ENST00000343410.6	-	5	1573	c.1515C>T	c.(1513-1515)gtC>gtT	p.V505V		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	505					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		AACCACGATAGACATAACCTC	0.468000													16	13					0	0	0.004007	0	0
FAM47C	442444	broad.mit.edu	37	X	37028078	37028078	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chrX:37028078C>A	ENST00000358047.3	+	1	1647	c.1595C>A	c.(1594-1596)tCc>tAc	p.S532Y		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	532										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ATTCTGGTGTCCAGTCTCCAC	0.612000													151	27					3.64178e-58	7.22585e-58	0.003610	1	0
TTLL1	25809	broad.mit.edu	37	22	43460212	43460212	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr22:43460212G>T	ENST00000331018.7	-	6	862	c.622C>A	c.(622-624)Cca>Aca	p.P208T	TTLL1_ENST00000266254.7_Missense_Mutation_p.P208T			O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	208	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		CAGCGCAGTGGACGGTACGTG	0.468000													19	8					7.45023e-12	1.02728e-11	0.010504	1	0
NAV3	89795	broad.mit.edu	37	12	78510664	78510664	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:78510664C>A	ENST00000397909.2	+	13	2922	c.2749C>A	c.(2749-2751)Ccc>Acc	p.P917T	NAV3_ENST00000266692.7_Missense_Mutation_p.P917T|NAV3_ENST00000228327.6_Missense_Mutation_p.P917T|NAV3_ENST00000536525.2_Missense_Mutation_p.P917T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	917						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						CATCACCGTCCCCTCTAGGAA	0.433000										HNSCC(70;0.22)			45	54					3.2641e-12	4.55592e-12	0.013114	1	0
GMPS	8833	broad.mit.edu	37	3	155615827	155615827	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:155615827G>T	ENST00000496455.1	+	3	656	c.321G>T	c.(319-321)atG>atT	p.M107I	GMPS_ENST00000476145.1_3'UTR|GMPS_ENST00000295920.7_Intron	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	107	Glutamine amidotransferase type-1.				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCTATGGTATGCAGGTATGTC	0.358000			T	MLL	AML								48	133					5.2432e-18	8.51425e-18	0.003610	1	0
RBMS1	5937	broad.mit.edu	37	2	161174686	161174686	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:161174686A>G	ENST00000348849.3	-	3	734	c.304T>C	c.(304-306)Tgc>Cgc	p.C102R	RBMS1_ENST00000409289.2_Missense_Mutation_p.C69R|RBMS1_ENST00000392753.3_Missense_Mutation_p.C102R|RBMS1_ENST00000409075.1_Missense_Mutation_p.C69R|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409972.1_Missense_Mutation_p.C69R	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	102	RRM 1.				DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								ATACCTTTGCATTTGTTCGTT	0.284000													6	21					0	0	0.001168	0	0
PHLDB2	90102	broad.mit.edu	37	3	111681104	111681104	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:111681104A>T	ENST00000431670.2	+	13	3433	c.3022A>T	c.(3022-3024)Agc>Tgc	p.S1008C	PHLDB2_ENST00000393923.3_Missense_Mutation_p.S992C|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S1008C|PHLDB2_ENST00000412622.1_Missense_Mutation_p.S965C|PHLDB2_ENST00000495180.1_Missense_Mutation_p.S499C|PHLDB2_ENST00000470699.2_3'UTR|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S965C	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1008						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GAGCCTCGATAGCTCTGATAG	0.428000													68	44					0	0	0.003610	0	0
FRMPD2	143162	broad.mit.edu	37	10	49400802	49400802	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:49400802C>T	ENST00000374201.3	-	16	2392	c.2090G>A	c.(2089-2091)gGc>gAc	p.G697D	FRMPD2_ENST00000407470.4_Missense_Mutation_p.G665D|FRMPD2_ENST00000305531.3_Missense_Mutation_p.G672D	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	697					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		ACTCAGCAGGCCTCCTGCAGC	0.537000													12	38					0	0	0.010729	0	0
RYR3	6263	broad.mit.edu	37	15	33895564	33895564	+	Splice_Site	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr15:33895564A>G	ENST00000389232.4	+	18	2233	c.2164_splice	c.e18+1	p.S721_splice	RYR3_ENST00000415757.3_Splice_Site_p.S721_splice	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	721	B30.2/SPRY 1.				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)		ACCTTTGGTCAGGTGAGTACC	0.468000													106	90					0	0	0.003610	0	0
TFAP2D	83741	broad.mit.edu	37	6	50683290	50683290	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:50683290C>A	ENST00000008391.3	+	2	729	c.501C>A	c.(499-501)agC>agA	p.S167R		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	167				S -> N (in Ref. 1; AAK16926).			DNA binding|sequence-specific DNA binding transcription factor activity	p.S167S(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CAGGGCCCAGCCTGGGGCTGG	0.632000													51	62					1.56989e-16	2.47234e-16	0.003610	1	0
HSPA12B	116835	broad.mit.edu	37	20	3729935	3729935	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr20:3729935G>T	ENST00000254963.2	+	9	1052	c.907G>T	c.(907-909)Gta>Tta	p.V303L	HSPA12B_ENST00000542646.1_Missense_Mutation_p.V137L	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	303							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						GGAGTCAGGCGTAGGAGAGCT	0.627000													5	20					1.23904e-05	1.41928e-05	0.000602	1	0
PCDHA4	56144	broad.mit.edu	37	5	140188221	140188221	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:140188221C>A	ENST00000530339.1	+	1	1449	c.1449C>A	c.(1447-1449)gaC>gaA	p.D483E	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.D483E|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.D483E	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)			GGGACGCGGACGCGCAGGAGA	0.657000													37	16					1.59361e-14	2.37524e-14	0.006999	1	0
ZNF724P	440519	broad.mit.edu	37	19	23405738	23405738	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:23405738G>C	ENST00000418100.1	-	4	1426	c.1309C>G	c.(1309-1311)Ctt>Gtt	p.L437V																	endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						TGTGTAGTAAGTTGTGAGAAC	0.388000													12	34					0	0	0.010729	0	0
CHD6	84181	broad.mit.edu	37	20	40076594	40076594	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr20:40076594C>A	ENST00000373233.3	-	24	3878	c.3701G>T	c.(3700-3702)cGg>cTg	p.R1234L	CHD6_ENST00000309279.7_Missense_Mutation_p.R717L	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1234					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTACAGCATCCGGACTCGCAA	0.403000													42	33					3.43241e-23	5.99356e-23	0.009718	1	0
TNN	63923	broad.mit.edu	37	1	175067700	175067700	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:175067700G>A	ENST00000239462.4	+	9	2201	c.2088G>A	c.(2086-2088)gaG>gaA	p.E696E		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	696	Fibronectin type-III 5.				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)		GGGACCAGGAGAGCAAGAAGG	0.582000													13	74					0	0	0.002450	0	0
GLRA1	2741	broad.mit.edu	37	5	151266284	151266284	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:151266284T>C	ENST00000274576.4	-	3	542	c.250A>G	c.(250-252)Atg>Gtg	p.M84V	GLRA1_ENST00000545569.1_Start_Codon_SNP_p.M1V|GLRA1_ENST00000455880.2_Missense_Mutation_p.M84V|GLRA1_ENST00000471351.2_5'UTR	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	84					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTACTCACCATGGTTGTCTCA	0.463000													40	15					0	0	0.008740	0	0
AIM1L	55057	broad.mit.edu	37	1	26664907	26664907	+	Missense_Mutation	SNP	A	A	T	rs151324745	byFrequency	TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:26664907A>T	ENST00000527815.1	-	6	833	c.784T>A	c.(784-786)Tac>Aac	p.Y262N	AIM1L_ENST00000522993.1_5'UTR|AIM1L_ENST00000308182.5_Missense_Mutation_p.Y91N	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	91	Beta/gamma crystallin 'Greek key' 6.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		GAGGTGGGGTACTCTCCAGGT	0.587000													22	56					0	0	0.002780	0	0
POM121L12	285877	broad.mit.edu	37	7	53103601	53103601	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:53103601G>T	ENST00000408890.4	+	1	253	c.237G>T	c.(235-237)gaG>gaT	p.E79D		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	79										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ACCTCATCGAGGTGCGGCCCA	0.711000													11	38					3.86212e-05	4.32502e-05	0.008291	1	0
ZNF662	389114	broad.mit.edu	37	3	42950387	42950387	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:42950387G>C	ENST00000541208.1	+	3	506	c.137G>C	c.(136-138)aGg>aCg	p.R46T	ZNF662_ENST00000440367.2_Missense_Mutation_p.R46T|ZNF662_ENST00000328199.6_Missense_Mutation_p.R106T|ZNF662_ENST00000430067.2_3'UTR|KRBOX1_ENST00000426937.1_5'UTR|ZNF662_ENST00000422021.1_Missense_Mutation_p.R46T			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GAGGCCCCAAGGGGCATCTCC	0.517000													11	25					0	0	0.010729	0	0
PROX2	283571	broad.mit.edu	37	14	75321869	75321869	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr14:75321869G>C	ENST00000556084.2	-	3	1063	c.1064C>G	c.(1063-1065)cCa>cGa	p.P355R	PROX2_ENST00000556489.2_Missense_Mutation_p.P582R|PROX2_ENST00000445876.1_Missense_Mutation_p.P582R|RP11-316E14.6_ENST00000553381.1_RNA	NM_001080408.2	NP_001073877.2	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	582					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GAATATCTCTGGGATGTCACT	0.463000													3	9					0	0	0.004672	0	0
IDE	3416	broad.mit.edu	37	10	94230104	94230104	+	Splice_Site	SNP	T	T	A	rs139681738		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:94230104T>A	ENST00000265986.6	-	18	2173		c.e18-2		IDE_ENST00000496903.1_Splice_Site|IDE_ENST00000371581.5_Splice_Site	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme						beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGGTTACATCTGCAAAGGTGT	0.448000													27	80					0	0	0.004656	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883478	19883478	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr16:19883478C>A	ENST00000300571.2	-	2	881	c.690G>T	c.(688-690)aaG>aaT	p.K230N	GPRC5B_ENST00000569847.1_Missense_Mutation_p.K230N|GPRC5B_ENST00000569479.1_Missense_Mutation_p.K230N|GPRC5B_ENST00000537135.1_Missense_Mutation_p.K256N|GPRC5B_ENST00000535671.1_Missense_Mutation_p.K230N	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	230										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CCCCGTTCAGCTTCCACCTCT	0.572000													31	34					9.65021e-13	1.36675e-12	0.010818	1	0
USP13	8975	broad.mit.edu	37	3	179460012	179460012	+	Missense_Mutation	SNP	A	A	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:179460012A>C	ENST00000263966.3	+	12	1879	c.1408A>C	c.(1408-1410)Agc>Cgc	p.S470R	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Missense_Mutation_p.S405R	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	470					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			AGAAAACCCAAGCGATGTTTT	0.448000													8	21					0	0	0.008291	0	0
KLHL36	79786	broad.mit.edu	37	16	84695417	84695417	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr16:84695417G>T	ENST00000564996.1	+	5	1670	c.1529G>T	c.(1528-1530)cGc>cTc	p.R510L	KLHL36_ENST00000258157.5_Missense_Mutation_p.R447L	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	510										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TCCATGGAGCGCTTCGACGTG	0.682000													15	6					1.49906e-05	1.70931e-05	0.002450	1	0
CDH7	1005	broad.mit.edu	37	18	63525089	63525089	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr18:63525089T>A	ENST00000536984.2	+	8	1967	c.1273T>A	c.(1273-1275)Ttc>Atc	p.F425I	CDH7_ENST00000323011.3_Missense_Mutation_p.F425I|CDH7_ENST00000397968.2_Missense_Mutation_p.F425I			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	425	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GGAGAGATACTTCAATATTGA	0.388000													12	23					0	0	0.001368	0	0
SERPINA3	12	broad.mit.edu	37	14	95080781	95080781	+	Missense_Mutation	SNP	G	G	T	rs140910224		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr14:95080781G>T	ENST00000553947.1	+	5	966	c.78G>T	c.(76-78)atG>atT	p.M26I	SERPINA3_ENST00000467132.1_Start_Codon_SNP_p.M1I|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393080.4_Start_Codon_SNP_p.M1I|SERPINA3_ENST00000393078.3_Start_Codon_SNP_p.M1I			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	1					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AGTTGAGAATGGAGAGAATGT	0.592000													12	42					7.03913e-09	8.98368e-09	0.001368	1	0
PADI1	29943	broad.mit.edu	37	1	17552534	17552534	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:17552534A>G	ENST00000375471.4	+	6	625	c.533A>G	c.(532-534)cAg>cGg	p.Q178R		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	178					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	CCAGACCTGCAGGACATGTCC	0.562000													33	82					0	0	0.009535	0	0
FRMPD4	9758	broad.mit.edu	37	X	12722507	12722507	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chrX:12722507C>G	ENST00000380682.1	+	11	1606	c.1100C>G	c.(1099-1101)cCc>cGc	p.P367R		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	367	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						ACTTTTCTTCCCTCTGCTGTG	0.373000													16	16					0	0	0.003163	0	0
DCHS1	8642	broad.mit.edu	37	11	6661763	6661763	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:6661763G>T	ENST00000299441.3	-	2	1493	c.1082C>A	c.(1081-1083)tCc>tAc	p.S361Y		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	361	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACAGTCATGGAGGGCTGATT	0.582000													16	41					3.57192e-18	5.83057e-18	0.006122	1	0
TEKT4	150483	broad.mit.edu	37	2	95539816	95539816	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:95539816G>T	ENST00000295201.4	+	3	813	c.676G>T	c.(676-678)Gtg>Ttg	p.V226L	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	226					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GAGCACCGAGGTGCAGGCTCA	0.652000													19	57					1.00905e-13	1.47069e-13	0.008871	1	0
HMCN1	83872	broad.mit.edu	37	1	186064396	186064396	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:186064396C>A	ENST00000271588.4	+	68	10545	c.10316C>A	c.(10315-10317)tCa>tAa	p.S3439*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.S3439*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3439	Ig-like C2-type 33.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.S3439*(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGGACAATTCAATGGGGACA	0.383000													25	31					7.01153e-11	9.39876e-11	0.007291	1	0
RGS7BP	401190	broad.mit.edu	37	5	63905072	63905072	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:63905072C>A	ENST00000334025.2	+	6	1093	c.767C>A	c.(766-768)tCa>tAa	p.S256*		NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	256					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		TGTCTCATCTCAAGCTAGGTG	0.478000													20	4					2.37509e-13	3.41402e-13	0.010504	1	0
TSHZ3	57616	broad.mit.edu	37	19	31767539	31767539	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:31767539G>T	ENST00000240587.4	-	2	3487	c.3160C>A	c.(3160-3162)Cac>Aac	p.H1054N		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1054					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTAACAGCGTGCTTGCTGGCA	0.478000													22	32					7.45023e-12	1.02728e-11	0.010504	1	0
PLD1	5337	broad.mit.edu	37	3	171431773	171431773	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:171431773A>T	ENST00000356327.5	-	9	891	c.821T>A	c.(820-822)tTc>tAc	p.F274Y	PLD1_ENST00000351298.4_Missense_Mutation_p.F274Y|PLD1_ENST00000340989.4_Missense_Mutation_p.F274Y|PLD1_ENST00000342215.6_Missense_Mutation_p.F274Y	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	274	PH.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CAGCAGGACGAAGGCAATGGC	0.358000													29	28					0	0	0.008361	0	0
BICC1	80114	broad.mit.edu	37	10	60272971	60272971	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:60272971G>T	ENST00000373886.3	+	1	72	c.68G>T	c.(67-69)aGc>aTc	p.S23I		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	23					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						AGCGAGCGCAGCACCGACTCC	0.751000													7	3					0.00198382	0.00209953	0.001984	1	0
SPTBN1	6711	broad.mit.edu	37	2	54852007	54852007	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:54852007C>T	ENST00000333896.5	+	10	1595	c.1210C>T	c.(1210-1212)Cag>Tag	p.Q404*	SPTBN1_ENST00000356805.4_Nonsense_Mutation_p.Q417*	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	417					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GCTCATAAGACAGGAGAAACT	0.493000													18	20					0	0	0.004990	0	0
MSH4	4438	broad.mit.edu	37	1	76262883	76262883	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:76262883C>T	ENST00000263187.3	+	1	317	c.213C>T	c.(211-213)ccC>ccT	p.P71P		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	71					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GCAGCCTTCCCTGCCCCGCGC	0.667000								Mismatch excision repair (MMR)					5	8					0	0	0.001168	0	0
CYYR1	116159	broad.mit.edu	37	21	27945254	27945254	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr21:27945254G>A	ENST00000299340.4	-	1	349	c.6C>T	c.(4-6)gaC>gaT	p.D2D	CYYR1_ENST00000435845.2_Silent_p.D110D|CYYR1_ENST00000400043.3_Silent_p.D2D	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	2						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GCCTCGGAGCGTCCATCCAAG	0.647000													25	22					0	0	0.004656	0	0
FZD10	11211	broad.mit.edu	37	12	130647701	130647701	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:130647701G>C	ENST00000539839.1	+	1	698	c.116G>C	c.(115-117)cGc>cCc	p.R39P	FZD10_ENST00000229030.4_Missense_Mutation_p.A72P	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0	FZ.				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GCACGAGTTCGCGCCGCTGGT	0.637000													35	29					0	0	0.003755	0	0
MGA	23269	broad.mit.edu	37	15	42058484	42058484	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr15:42058484A>G	ENST00000219905.7	+	24	8385	c.8204A>G	c.(8203-8205)aAt>aGt	p.N2735S	MGA_ENST00000570161.1_Missense_Mutation_p.N2735S|MGA_ENST00000566586.1_Missense_Mutation_p.N2526S|MGA_ENST00000389936.4_Missense_Mutation_p.N2696S|MGA_ENST00000545763.1_Missense_Mutation_p.N2526S	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2696						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GACGTTTCCAATATGCAGAAA	0.418000													4	27					0	0	0.009096	0	0
SEZ6	124925	broad.mit.edu	37	17	27308831	27308831	+	Silent	SNP	G	G	A	rs1976197		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:27308831G>A	ENST00000317338.12	-	2	710	c.282C>T	c.(280-282)ttC>ttT	p.F94F	SEZ6_ENST00000442608.3_Silent_p.F94F|SEZ6_ENST00000360295.9_Silent_p.F94F|SEZ6_ENST00000335960.6_Silent_p.F94F|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	94	Pro-rich.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GGTCAGGCTGGAAGGGCAGTG	0.632000													19	31					0	0	0.008871	0	0
GHR	2690	broad.mit.edu	37	5	42629194	42629194	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:42629194G>T	ENST00000230882.4	+	3	315	c.125G>T	c.(124-126)gGc>gTc	p.G42V	GHR_ENST00000357703.3_Intron|GHR_ENST00000537449.1_5'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	42					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GTTAATCCAGGCCTAAAGACA	0.378000													48	2					6.03219e-31	1.12553e-30	0.003610	1	0
BEND6	221336	broad.mit.edu	37	6	56846713	56846713	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:56846713C>A	ENST00000370748.3	+	2	540	c.105C>A	c.(103-105)gaC>gaA	p.D35E	BEND6_ENST00000370746.3_Missense_Mutation_p.D35E|BEND6_ENST00000370750.2_Missense_Mutation_p.D35E|BEND6_ENST00000370745.1_Missense_Mutation_p.D35E			Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	35										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						CAAATAGTGACATGGATAAAG	0.338000													19	21					4.35082e-09	5.58689e-09	0.010504	1	0
ARID4A	5926	broad.mit.edu	37	14	58772772	58772772	+	Silent	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr14:58772772T>C	ENST00000355431.3	+	5	589	c.216T>C	c.(214-216)gaT>gaC	p.D72D	ARID4A_ENST00000431317.2_Silent_p.D72D|ARID4A_ENST00000395168.3_Silent_p.D72D|ARID4A_ENST00000348476.3_Silent_p.D72D	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	72					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGACATCTGATGGATCTTTTC	0.348000													6	52					0	0	0.001168	0	0
APBB1	322	broad.mit.edu	37	11	6422868	6422868	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:6422868T>C	ENST00000389906.2	-	9	1538	c.1439A>G	c.(1438-1440)cAc>cGc	p.H480R	APBB1_ENST00000533407.1_Missense_Mutation_p.H219R|APBB1_ENST00000530885.1_Missense_Mutation_p.H258R|APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000311051.3_Missense_Mutation_p.H478R|APBB1_ENST00000299402.6_Missense_Mutation_p.H478R	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	480	PID 1.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GCGAAACACGTGGCACTTGAG	0.587000													16	25					0	0	0.004990	0	0
CCDC102B	79839	broad.mit.edu	37	18	66506000	66506000	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr18:66506000G>T	ENST00000360242.5	+	3	781	c.664G>T	c.(664-666)Gat>Tat	p.D222Y	CCDC102B_ENST00000358653.5_Missense_Mutation_p.D222Y|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000584156.1_Missense_Mutation_p.D222Y|CCDC102B_ENST00000319445.6_Missense_Mutation_p.D222Y	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	222										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GCCCAATCTAGATGGTGTTGA	0.373000													6	8					5.9392e-07	7.22632e-07	0.001168	1	0
AK7	122481	broad.mit.edu	37	14	96875234	96875234	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr14:96875234C>T	ENST00000267584.4	+	4	498	c.454C>T	c.(454-456)Ctg>Ttg	p.L152L	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	152					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		ATTTATTTTACTGTCGACGGT	0.468000													16	23					0	0	0.004990	0	0
OXCT2	64064	broad.mit.edu	37	1	40236278	40236278	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:40236278C>A	ENST00000327582.5	-	1	742	c.650G>T	c.(649-651)cGg>cTg	p.R217L	BMP8B_ENST00000397360.2_Intron|BMP8B_ENST00000372827.3_Intron	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2	217					ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	GTTTCCTGCCCGGTCGGCCTT	0.622000											OREG0013400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	13					2.52991e-16	3.9792e-16	0.003610	1	0
KRT72	140807	broad.mit.edu	37	12	52984737	52984737	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:52984737C>A	ENST00000293745.2	-	6	1057	c.972G>T	c.(970-972)gaG>gaT	p.E324D	KRT72_ENST00000537672.2_Missense_Mutation_p.E324D|KRT72_ENST00000354310.4_Intron|KRT72_ENST00000398066.3_Missense_Mutation_p.E136D	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	324	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TGACCTGCAGCTCCTGGATCT	0.542000													31	42					4.3181e-19	7.1135e-19	0.002836	1	0
CABP1	9478	broad.mit.edu	37	12	121098927	121098927	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:121098927G>A	ENST00000453000.1	+	5	1313	c.801G>A	c.(799-801)atG>atA	p.M267I	CABP1_ENST00000351200.2_Missense_Mutation_p.M128I|CABP1_ENST00000316803.3_Missense_Mutation_p.M331I|CABP1_ENST00000288616.3_Missense_Mutation_p.M188I			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	331	EF-hand 2.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GAGAGGCTATGAGGAAGCTCC	0.532000													56	49					0	0	0.003610	0	0
VCAM1	7412	broad.mit.edu	37	1	101186080	101186080	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:101186080A>T	ENST00000294728.2	+	2	214	c.113A>T	c.(112-114)cAg>cTg	p.Q38L	VCAM1_ENST00000370115.1_Missense_Mutation_p.Q38L|VCAM1_ENST00000347652.2_Missense_Mutation_p.Q38L|VCAM1_ENST00000370119.4_Missense_Mutation_p.Q38L	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	38	Ig-like C2-type 1.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TATCTTGCTCAGATTGGTGAC	0.433000													29	13					0	0	0.010818	0	0
MTERF	7978	broad.mit.edu	37	7	91504069	91504069	+	Translation_Start_Site	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:91504069T>A	ENST00000419292.1	-	0	55				MTERF_ENST00000351870.3_Missense_Mutation_p.K13N|MTERF_ENST00000406735.2_De_novo_Start_OutOfFrame|CTB-104F4.2_ENST00000454222.1_RNA			Q99551	MTERF_HUMAN	mitochondrial transcription termination factor						DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			AGTTCAAACCTTTTGAAATGC	0.343000													7	14					0	0	0.003080	0	0
POU3F3	5455	broad.mit.edu	37	2	105472187	105472187	+	Silent	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:105472187C>G	ENST00000361360.2	+	1	219	c.219C>G	c.(217-219)gtC>gtG	p.V73V	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	73	Gly-rich.				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						TCAAGATGGTCCAGAGCGACT	0.761000													4	18					0	0	0.009096	0	0
FAM24A	118670	broad.mit.edu	37	10	124672368	124672368	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:124672368C>A	ENST00000368894.1	+	3	337	c.216C>A	c.(214-216)acC>acA	p.T72T		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	72						extracellular region				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		AAGCCACCACCATGGAGTCTT	0.502000													20	46					1.33834e-09	1.73817e-09	0.007413	1	0
OR2T34	127068	broad.mit.edu	37	1	248737347	248737347	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:248737347C>A	ENST00000328782.2	-	1	733	c.712G>T	c.(712-714)Ggc>Tgc	p.G238C		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G238S(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCCTGCGGCCGGCGGCAGAA	0.562000													108	69					3.10586e-51	6.13333e-51	0.003610	1	0
CCDC11	220136	broad.mit.edu	37	18	47788483	47788483	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr18:47788483C>A	ENST00000398545.4	-	2	293	c.176G>T	c.(175-177)cGg>cTg	p.R59L		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	59										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		CAAGCGATCCCGCTCACTTGA	0.478000													20	29					8.28177e-16	1.28168e-15	0.007413	1	0
GP5	2814	broad.mit.edu	37	3	194118183	194118183	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:194118183G>T	ENST00000401815.1	-	1	900	c.829C>A	c.(829-831)Ccg>Acg	p.P277T	GP5_ENST00000323007.3_Missense_Mutation_p.P277T			P40197	GPV_HUMAN	glycoprotein V (platelet)	277					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		TCTGCCAGCGGGTTCTCGAAC	0.617000													21	23					8.10497e-08	1.00669e-07	0.010504	1	0
CFAP54	144535	broad.mit.edu	37	12	97147590	97147590	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:97147590T>A	ENST00000524981.3	+	23	3107	c.3107T>A	c.(3106-3108)cTt>cAt	p.L1036H				Q6ZTY8	CL063_HUMAN		1010										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TTACCTGCTCTTCATCTGTTT	0.433000													37	61					0	0	0.003755	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151055096	151055096	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:151055096G>T	ENST00000367328.1	+	3	591	c.279G>T	c.(277-279)gtG>gtT	p.V93V	PLEKHG1_ENST00000358517.2_Silent_p.V93V	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	93					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AGTGGAGAGTGGACTCAAACG	0.602000													25	8					7.88262e-20	1.31063e-19	0.003330	1	0
AVPR1A	552	broad.mit.edu	37	12	63543938	63543938	+	Missense_Mutation	SNP	C	C	A	rs112945642		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:63543938C>A	ENST00000299178.2	-	1	784	c.679G>T	c.(679-681)Gcg>Tcg	p.A227S		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	227					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	ACCACGGGCGCCACAAAGATG	0.622000													51	75					4.00472e-15	6.06277e-15	0.003610	1	0
CCDC54	84692	broad.mit.edu	37	3	107096481	107096481	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:107096481T>A	ENST00000261058.1	+	1	294	c.47T>A	c.(46-48)aTg>aAg	p.M16K		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	16										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GCTAGGCAGATGTGGACTTCA	0.418000													59	51					0	0	0.003610	0	0
TBX19	9095	broad.mit.edu	37	1	168282075	168282075	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:168282075G>T	ENST00000367821.3	+	8	1233	c.1182G>T	c.(1180-1182)gtG>gtT	p.V394V	TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	394					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					CCCCTTCTGTGCTCTCCACCC	0.647000													13	60					5.50884e-06	6.38617e-06	0.001368	1	0
SNHG14	104472715	broad.mit.edu	37	15	25474020	25474020	+	RNA	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr15:25474020G>C	ENST00000453082.2	+	0	1332					NR_003343.1																						CTGAAACTCTGACCCTTCCTG	0.592000													32	27					0	0	0.008361	0	0
FHOD3	80206	broad.mit.edu	37	18	34298168	34298168	+	Silent	SNP	G	G	T	rs73949877	byFrequency	TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr18:34298168G>T	ENST00000257209.4	+	16	2504	c.2382G>T	c.(2380-2382)ccG>ccT	p.P794P	FHOD3_ENST00000359247.4_Silent_p.P777P|FHOD3_ENST00000445677.1_Silent_p.P756P|FHOD3_ENST00000590592.1_Silent_p.P969P|FHOD3_ENST00000591635.1_Intron	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	777					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AAACAGCGCCGGTGCAGCCGA	0.537000													43	97					6.33695e-27	1.1515e-26	0.007835	1	0
ZFHX4	79776	broad.mit.edu	37	8	77767432	77767432	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:77767432A>G	ENST00000521891.2	+	10	8723	c.8275A>G	c.(8275-8277)Aca>Gca	p.T2759A	ZFHX4_ENST00000518282.1_Missense_Mutation_p.T2733A|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T2714A|ZFHX4_ENST00000455469.2_Missense_Mutation_p.T2714A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2714						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)			TGTTAGTAAAACAGCAGAGCT	0.388000										HNSCC(33;0.089)			22	64					0	0	0.002299	0	0
ASTN1	460	broad.mit.edu	37	1	176905413	176905413	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:176905413G>C	ENST00000367654.2	-	15	2508	c.2495C>G	c.(2494-2496)gCc>gGc	p.A832G	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.A824G|ASTN1_ENST00000367657.3_Missense_Mutation_p.A824G|ASTN1_ENST00000361833.2_Missense_Mutation_p.A824G			O14525	ASTN1_HUMAN	astrotactin 1	832					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTGAGAGATGGCCACTTGGTT	0.542000													11	50					0	0	0.010729	0	0
MYBPC1	4604	broad.mit.edu	37	12	102057219	102057219	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:102057219C>A	ENST00000549145.1	+	21	2301	c.2201C>A	c.(2200-2202)cCt>cAt	p.P734H	MYBPC1_ENST00000361466.2_Missense_Mutation_p.P746H|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.P702H|MYBPC1_ENST00000360610.2_Missense_Mutation_p.P721H|MYBPC1_ENST00000545503.2_Missense_Mutation_p.P721H|MYBPC1_ENST00000452455.2_Missense_Mutation_p.P721H|MYBPC1_ENST00000441232.1_Missense_Mutation_p.P721H|MYBPC1_ENST00000547509.1_Missense_Mutation_p.P707H|MYBPC1_ENST00000553190.1_Missense_Mutation_p.P721H|MYBPC1_ENST00000550270.1_Missense_Mutation_p.P721H|MYBPC1_ENST00000551300.1_Missense_Mutation_p.P622H|MYBPC1_ENST00000392934.3_Missense_Mutation_p.P708H|MYBPC1_ENST00000361685.2_Missense_Mutation_p.P746H|MYBPC1_ENST00000547405.1_Missense_Mutation_p.P695H|MYBPC1_ENST00000541119.1_Missense_Mutation_p.P709H			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	721	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ACAAGCCCTCCTACTCTTCTG	0.453000													38	80					4.14481e-20	6.90067e-20	0.006230	1	0
ENGASE	64772	broad.mit.edu	37	17	77077075	77077075	+	Silent	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:77077075A>T	ENST00000579016.1	+	6	792	c.792A>T	c.(790-792)ccA>ccT	p.P264P	ENGASE_ENST00000539857.2_Silent_p.P78P	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	264						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GGCAGGTCCCAGGGGGCCTGG	0.592000													15	33					0	0	0.003163	0	0
NLRP9	338321	broad.mit.edu	37	19	56223834	56223834	+	Missense_Mutation	SNP	T	T	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:56223834T>G	ENST00000332836.2	-	7	2651	c.2624A>C	c.(2623-2625)cAg>cCg	p.Q875P		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	875						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)		TGCACATAACTGTCTGACACC	0.413000													33	9					0	0	0.004289	0	0
KIAA1045	23349	broad.mit.edu	37	9	34976209	34976209	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr9:34976209C>A	ENST00000242315.3	+	4	707	c.625C>A	c.(625-627)Cgg>Agg	p.R209R	KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Silent_p.R209R	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	209							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			GACCTTTCAGCGGTGTAAAGT	0.507000													22	21					2.21704e-12	3.1118e-12	0.002780	1	0
BTBD10	84280	broad.mit.edu	37	11	13435091	13435091	+	Missense_Mutation	SNP	T	T	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:13435091T>G	ENST00000278174.5	-	6	1039	c.794A>C	c.(793-795)aAa>aCa	p.K265T	BTBD10_ENST00000530907.1_Missense_Mutation_p.K273T|BTBD10_ENST00000528120.1_Missense_Mutation_p.K217T	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	265						nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		ATCTCTACATTTAATAGTGCT	0.323000													95	165					0	0	0.003610	0	0
GDF10	2662	broad.mit.edu	37	10	48429305	48429305	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:48429305G>T	ENST00000224605.2	-	2	846	c.581C>A	c.(580-582)gCg>gAg	p.A194E		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	194					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CGGTGGGGGCGCCAGGGCCAT	0.731000													21	5					1.22574e-08	1.55641e-08	0.002299	1	0
POLE	5426	broad.mit.edu	37	12	133209285	133209285	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:133209285G>T	ENST00000320574.5	-	44	6144	c.6101C>A	c.(6100-6102)tCc>tAc	p.S2034Y	POLE_ENST00000535270.1_Missense_Mutation_p.S2007Y	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2034					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GGCCTCCTGGGAGAGCTGGCT	0.647000								DNA polymerases (catalytic subunits)					31	36					3.86903e-22	6.67221e-22	0.002836	1	0
LOC653786	653786	broad.mit.edu	37	16	22588087	22588087	+	RNA	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr16:22588087G>A	ENST00000550753.1	+	0	2562					NR_003676.2																						GTGGGACACCGTTCCCTGGAT	0.522000													7	31					0	0	0.001984	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	158787225	158787225	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:158787225C>A	ENST00000485419.1	+	1	173	c.4C>A	c.(4-6)Cgt>Agt	p.R2S	IQCJ_ENST00000481796.1_Intron|IQCJ_ENST00000482126.1_Missense_Mutation_p.R2S|IQCJ_ENST00000451172.1_Missense_Mutation_p.R2S|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.R2S|IQCJ_ENST00000397832.2_Missense_Mutation_p.R2S|IQCJ-SCHIP1_ENST00000467442.1_Intron	NM_001197113.1	NP_001184042.1	Q9P0W5	SCHI1_HUMAN		0						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						CTTCAAAATGCGTCTGGTAAT	0.408000													14	45					1.02788e-11	1.41109e-11	0.004990	1	0
DIS3	22894	broad.mit.edu	37	13	73350083	73350083	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr13:73350083C>T	ENST00000377767.4	-	5	902	c.802G>A	c.(802-804)Gac>Aac	p.D268N	DIS3_ENST00000545453.1_Missense_Mutation_p.D106N|DIS3_ENST00000377780.4_Missense_Mutation_p.D238N	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	268					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	p.D268N(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TCTTCATTGTCGCCATGAATC	0.303000										Multiple Myeloma(4;0.011)			5	14					0	0	0.000602	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124209239	124209239	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:124209239C>T	ENST00000330342.3	+	4	581	c.333C>T	c.(331-333)gtC>gtT	p.V111V		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	111					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TGAGAGAAGTCACTAAGAACA	0.398000													51	174					0	0	0.003610	0	0
MORC1	27136	broad.mit.edu	37	3	108773722	108773722	+	Missense_Mutation	SNP	C	C	G	rs114679116	by1000genomes	TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:108773722C>G	ENST00000232603.5	-	14	1265	c.1183G>C	c.(1183-1185)Gca>Cca	p.A395P	MORC1_ENST00000483760.1_Missense_Mutation_p.A395P	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	395					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACCACGCCTGCGCCAAGTCTG	0.303000													31	20					0	0	0.009535	0	0
DBNDD1	79007	broad.mit.edu	37	16	90072808	90072808	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr16:90072808C>T	ENST00000392973.3	-	3	1161	c.430G>A	c.(430-432)Gac>Aac	p.D144N	DBNDD1_ENST00000002501.6_Missense_Mutation_p.D138N|DBNDD1_ENST00000568838.1_Missense_Mutation_p.D258N|DBNDD1_ENST00000304733.3_Missense_Mutation_p.D158N			Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 1	138						cytoplasm				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0275)		CGCTCGGGGTCGCCTAGGGGC	0.682000													5	15					0	0	0.001168	0	0
RASSF2	9770	broad.mit.edu	37	20	4768348	4768348	+	Splice_Site	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr20:4768348C>T	ENST00000478553.1	-	7	714		c.e7-1		RASSF2_ENST00000379400.3_Silent_p.Q248Q|RASSF2_ENST00000379376.2_Silent_p.Q248Q			P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2						cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						CACATGGGCCCTGGAGGATTC	0.557000													29	29					0	0	0.006320	0	0
MDGA1	266727	broad.mit.edu	37	6	37623514	37623514	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:37623514C>A	ENST00000434837.2	-	4	1719	c.541G>T	c.(541-543)Gac>Tac	p.D181Y	MDGA1_ENST00000297153.7_Missense_Mutation_p.D181Y|MDGA1_ENST00000505425.1_Missense_Mutation_p.D181Y	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	181	Ig-like 2.				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						ACCCCATTGTCCTGGCTGTGG	0.602000													12	5					0.00185496	0.00196481	0.001855	1	0
ZNF547	284306	broad.mit.edu	37	19	57883153	57883153	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:57883153C>A	ENST00000282282.3	+	3	178	c.28C>A	c.(28-30)Cat>Aat	p.H10N	AC003002.4_ENST00000597658.1_Missense_Mutation_p.H10N	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTGGCAGGGTCATGTGGTTTT	0.408000													102	35					1.04275e-50	2.05593e-50	0.003610	1	0
CCDC85A	114800	broad.mit.edu	37	2	56420123	56420123	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:56420123G>A	ENST00000407595.2	+	2	1290	c.788G>A	c.(787-789)aGa>aAa	p.R263K	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	263	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAGAAACCCAGAGCCTGTGGA	0.657000													17	37					0	0	0.004007	0	0
TTN	7273	broad.mit.edu	37	2	179469749	179469749	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:179469749C>T	ENST00000589042.1	-	280	54379	c.54155G>A	c.(54154-54156)gGc>gAc	p.G18052D	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G9112D|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G15484D|TTN_ENST00000342175.6_Missense_Mutation_p.G9179D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G8987D|TTN_ENST00000591111.1_Missense_Mutation_p.G16411D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16411	Fibronectin type-III 31.						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)			GAACACTGAGCCAAGGCGATT	0.448000													84	108					0	0	0.003610	0	0
EPG5	57724	broad.mit.edu	37	18	43464770	43464770	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr18:43464770T>A	ENST00000282041.5	-	30	5150	c.5116A>T	c.(5116-5118)Atc>Ttc	p.I1706F	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1706					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ATGCCACTGATAAATACCTTG	0.398000													11	9					0	0	0.010729	0	0
APOB	338	broad.mit.edu	37	2	21237382	21237382	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:21237382C>A	ENST00000233242.1	-	24	3907	c.3780G>T	c.(3778-3780)gaG>gaT	p.E1260D		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1260					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGAGGTTGAACTCCTTCAGGC	0.458000													14	32					2.61681e-11	3.54957e-11	0.002450	1	0
UGT3A2	167127	broad.mit.edu	37	5	36066872	36066872	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:36066872A>G	ENST00000282507.3	-	1	121	c.20T>C	c.(19-21)cTt>cCt	p.L7P	UGT3A2_ENST00000513300.1_Missense_Mutation_p.L7P|UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	7						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACTAGAAGAAGCACTCGCTG	0.607000													72	273					0	0	0.003610	0	0
TTC18	118491	broad.mit.edu	37	10	75053068	75053068	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:75053068C>T	ENST00000310715.3	-	17	2053	c.1933G>A	c.(1933-1935)Gca>Aca	p.A645T	TTC18_ENST00000340329.3_Intron|TTC18_ENST00000355577.3_Missense_Mutation_p.A114T|TTC18_ENST00000394865.1_Missense_Mutation_p.A645T|TTC18_ENST00000401621.2_Missense_Mutation_p.A645T|TTC18_ENST00000493787.1_5'UTR	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	645							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TTGACTTCTGCTTCAAATGCA	0.378000													18	15					0	0	0.007413	0	0
DOPEY2	9980	broad.mit.edu	37	21	37623566	37623566	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr21:37623566G>A	ENST00000399151.3	+	22	5190	c.5105G>A	c.(5104-5106)cGt>cAt	p.R1702H		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1702					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAAGCCCAGCGTCACAGTAAG	0.423000													12	36					0	0	0.001368	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													4	43					0	0	0.000602	0	0
KLB	152831	broad.mit.edu	37	4	39409048	39409048	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:39409048C>T	ENST00000257408.4	+	1	576	c.479C>T	c.(478-480)cCc>cTc	p.P160L		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	160	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AGGCTTTTCCCCGATGGAATA	0.383000													40	28					0	0	0.004878	0	0
WDFY3	23001	broad.mit.edu	37	4	85687018	85687018	+	Silent	SNP	T	T	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:85687018T>G	ENST00000322366.6	-	32	5540	c.5133A>C	c.(5131-5133)ggA>ggC	p.G1711G	WDFY3_ENST00000295888.4_Silent_p.G1711G			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1711						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAAGCCATCCTCCACCACTGA	0.403000													27	10					0	0	0.010818	0	0
OR2T10	127069	broad.mit.edu	37	1	248756850	248756850	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:248756850T>C	ENST00000330500.2	-	1	250	c.220A>G	c.(220-222)Att>Gtt	p.I74V		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTGACAGAAATATATGTCAAG	0.443000													12	26					0	0	0.010729	0	0
TTN	7273	broad.mit.edu	37	2	179451449	179451449	+	Silent	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:179451449A>G	ENST00000589042.1	-	308	64403	c.64179T>C	c.(64177-64179)gaT>gaC	p.D21393D	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.D12453D|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.D18825D|TTN_ENST00000342175.6_Silent_p.D12520D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.D12328D|TTN_ENST00000591111.1_Silent_p.D19752D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19752	Ig-like 113.						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)			TAGCACCTCCATCACGTAGGG	0.478000													48	62					0	0	0.013114	0	0
PCDHB15	56121	broad.mit.edu	37	5	140627303	140627303	+	Silent	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:140627303G>C	ENST00000231173.3	+	1	2157	c.2157G>C	c.(2155-2157)gcG>gcC	p.A719A		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		719			A -> V (in a breast cancer sample; somatic mutation).		homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGCAGGGCGGCCTCAGTGG	0.647000													116	48					0	0	0.003610	0	0
SGK3	23678	broad.mit.edu	37	8	67755688	67755688	+	Splice_Site	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:67755688A>G	ENST00000396596.1	+	14	1194	c.978_splice	c.e14-1	p.Y327_splice	SGK3_ENST00000521435.1_3'UTR|SGK3_ENST00000345714.4_Splice_Site_p.Y327_splice|SGK3_ENST00000520976.1_Intron|SGK3_ENST00000522398.1_Splice_Site_p.Y327_splice|SGK3_ENST00000521198.2_Splice_Site_p.Y327_splice|C8orf44-SGK3_ENST00000519289.1_Splice_Site_p.Y327_splice	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	327	Protein kinase.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTTCTATAGTATCTTGCACCT	0.313000													4	66					0	0	0.009096	0	0
POU6F2	11281	broad.mit.edu	37	7	39379546	39379546	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:39379546C>A	ENST00000518318.2	+	5	859	c.817C>A	c.(817-819)Ccg>Acg	p.P273T	POU6F2_ENST00000403058.1_Missense_Mutation_p.P273T|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Missense_Mutation_p.P265T			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	273	Gln-rich.|Pro-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						ctccagccccCCGCAGAAACC	0.622000													40	40					6.5261e-18	1.05838e-17	0.008740	1	0
MARCH5	54708	broad.mit.edu	37	10	94100552	94100552	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:94100552G>T	ENST00000358935.2	+	3	693	c.361G>T	c.(361-363)Gtg>Ttg	p.V121L	MARCH5_ENST00000467521.2_3'UTR	NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	121					cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						AGCAGTGACAGTGATGCAGGT	0.358000													44	29					1.89013e-27	3.44962e-27	0.003610	1	0
UNC13C	440279	broad.mit.edu	37	15	54305511	54305511	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr15:54305511C>A	ENST00000545554.1	+	1	411	c.411C>A	c.(409-411)agC>agA	p.S137R	UNC13C_ENST00000537900.1_Missense_Mutation_p.S137R|UNC13C_ENST00000260323.11_Missense_Mutation_p.S137R			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	137					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TAAGGAGTAGCACAGAAAACC	0.458000													7	26					8.12818e-05	8.99778e-05	0.001984	1	0
CBX2	84733	broad.mit.edu	37	17	77757746	77757746	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:77757746C>T	ENST00000310942.4	+	5	608	c.504C>T	c.(502-504)ccC>ccT	p.P168P		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	168					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GACGAAAGCCCCTGCCCCCAG	0.677000													14	35					0	0	0.003163	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744686	70744686	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:70744686C>A	ENST00000260126.3	-	2	929	c.223G>T	c.(223-225)Ggc>Tgc	p.G75C	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.G75C|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.G75C|SLCO5A1_ENST00000528658.1_5'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	75						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)			GGGTTCGGGCCTTGCTTCAAC	0.652000											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	69					6.40141e-05	7.11142e-05	0.010729	1	0
OR5T1	390155	broad.mit.edu	37	11	56043464	56043464	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:56043464G>T	ENST00000313033.2	+	1	436	c.350G>T	c.(349-351)tGt>tTt	p.C117F		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TTTCTTGCTTGTACTTTTGGA	0.403000													78	62					2.84431e-33	5.3874e-33	0.003610	1	0
STAT1	6772	broad.mit.edu	37	2	191843668	191843668	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:191843668G>A	ENST00000361099.3	-	21	2174	c.1787C>T	c.(1786-1788)cCg>cTg	p.P596L	STAT1_ENST00000392323.2_Missense_Mutation_p.P598L|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392322.3_Missense_Mutation_p.P596L|STAT1_ENST00000409465.1_Missense_Mutation_p.P596L	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	596	SH2.				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	GAAGGTCCCCGGCTGCTGGTC	0.582000													13	22					0	0	0.001368	0	0
USP13	8975	broad.mit.edu	37	3	179426668	179426668	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:179426668G>T	ENST00000263966.3	+	6	1199	c.728G>T	c.(727-729)gGg>gTg	p.G243V	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Missense_Mutation_p.G178V	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	243					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			GGGGGCAACGGGCATGCGCTG	0.557000													31	59					3.99451e-17	6.35467e-17	0.009535	1	0
GPR158	57512	broad.mit.edu	37	10	25887846	25887846	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:25887846G>C	ENST00000376351.3	+	11	3650	c.3291G>C	c.(3289-3291)gaG>gaC	p.E1097D	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1097						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTCTCCCAGAGAGGGCAAAAG	0.512000													19	61					0	0	0.006122	0	0
CHAT	1103	broad.mit.edu	37	10	50857553	50857553	+	Splice_Site	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:50857553G>T	ENST00000395562.2	+	11	1605		c.e11-1		CHAT_ENST00000351556.3_Splice_Site|CHAT_ENST00000455728.2_Splice_Site|CHAT_ENST00000337653.2_Splice_Site|CHAT_ENST00000339797.1_Splice_Site|CHAT_ENST00000395559.2_Splice_Site	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase						neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TGTGCCCGCAGGACGCAGAGC	0.617000													16	6					1.5739e-10	2.08963e-10	0.004007	1	0
ARHGAP9	64333	broad.mit.edu	37	12	57873156	57873156	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:57873156C>T	ENST00000393797.2	-	5	439	c.247G>A	c.(247-249)Ggg>Agg	p.G83R	ARHGAP9_ENST00000356411.2_Missense_Mutation_p.G12R|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.G91R|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.G12R|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.G12R			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	12	SH3.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CCTAGGATCCCCCAGGAACTT	0.597000													23	40					0	0	0.003330	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136544	40136544	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:40136544C>A	ENST00000278198.2	-	2	3262	c.1299G>T	c.(1297-1299)ggG>ggT	p.G433G	LRRC4C_ENST00000528697.1_Silent_p.G433G|LRRC4C_ENST00000530763.1_Silent_p.G433G|LRRC4C_ENST00000527150.1_Silent_p.G433G			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	433	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CAGTAGTATTCCCAACGGAAT	0.443000													27	119					4.22769e-11	5.71606e-11	0.006320	1	0
KIAA1324	57535	broad.mit.edu	37	1	109737089	109737089	+	Missense_Mutation	SNP	C	C	G	rs147403321		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:109737089C>G	ENST00000369939.3	+	15	2177	c.1994C>G	c.(1993-1995)cCg>cGg	p.P665R	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Missense_Mutation_p.P578R	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	665					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CGCAACACTCCGACCAGGACT	0.557000													32	11					0	0	0.003271	0	0
ZFP57	346171	broad.mit.edu	37	6	29644687	29644687	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:29644687C>A	ENST00000376883.1	-	3	445	c.34G>T	c.(34-36)Gat>Tat	p.D12Y	ZFP57_ENST00000376881.3_Missense_Mutation_p.D12Y|ZFP57_ENST00000488757.1_Missense_Mutation_p.D32Y			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	0					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						CTCCAGCAATCTCTCTTCATG	0.547000													74	13					4.14589e-37	7.96114e-37	0.003610	1	0
RNF152	220441	broad.mit.edu	37	18	59483374	59483374	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr18:59483374T>A	ENST00000312828.3	-	2	1422	c.323A>T	c.(322-324)aAg>aTg	p.K108M		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	108					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				CGCACGCTCCTTGGAGATGGG	0.627000													36	28					0	0	0.003271	0	0
CCER1	196477	broad.mit.edu	37	12	91348150	91348150	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:91348150A>G	ENST00000358859.2	-	1	803	c.370T>C	c.(370-372)Tgc>Cgc	p.C124R	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		CCGCTCCAGCAGGAGCAGCAG	0.682000													15	25					0	0	0.004007	0	0
ATAD2	29028	broad.mit.edu	37	8	124361643	124361643	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:124361643T>C	ENST00000287394.5	-	14	1795	c.1688A>G	c.(1687-1689)gAc>gGc	p.D563G	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CCCTCTGCTGTCCAATCCATC	0.388000													18	113					0	0	0.010504	0	0
COL5A2	1290	broad.mit.edu	37	2	189975122	189975122	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:189975122T>A	ENST00000374866.3	-	2	425	c.151A>T	c.(151-153)Agg>Tgg	p.R51W		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	51	VWFC.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CAAATGTCCCTGTTTAAGTAC	0.418000													18	30					0	0	0.012319	0	0
OR6B2	389090	broad.mit.edu	37	2	240969769	240969769	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:240969769C>A	ENST00000402971.2	-	1	137	c.78G>T	c.(76-78)ctG>ctT	p.L26L		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GGAGGAAGAGCAGGTACTGCA	0.607000													27	72					3.65163e-15	5.54835e-15	0.006320	1	0
IKZF5	64376	broad.mit.edu	37	10	124753978	124753978	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:124753978C>G	ENST00000368886.5	-	5	898	c.578G>C	c.(577-579)aGa>aCa	p.R193T	PSTK_ENST00000497219.1_Intron	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		TAGTGCTCTTCTGCTATAGCC	0.413000													31	88					0	0	0.002836	0	0
CADM3	57863	broad.mit.edu	37	1	159166236	159166236	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:159166236C>A	ENST00000368125.4	+	6	931	c.774C>A	c.(772-774)ggC>ggA	p.G258G	CADM3_ENST00000368124.4_Silent_p.G292G|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	258	Ig-like C2-type 2.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					AGGGTCGCGGCAATCCAGTGT	0.507000											OREG0013913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	6					3.86212e-05	4.32502e-05	0.008291	1	0
MUC16	94025	broad.mit.edu	37	19	9002659	9002659	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:9002659C>A	ENST00000397910.4	-	51	40360	c.40157G>T	c.(40156-40158)gGg>gTg	p.G13386V	MUC16_ENST00000380951.5_Missense_Mutation_p.G27V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13388	SEA 9.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGGCTGCCCCATCCTTCTC	0.562000													48	12					1.63429e-32	3.07227e-32	0.003610	1	0
GNPAT	8443	broad.mit.edu	37	1	231406610	231406610	+	Silent	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:231406610G>C	ENST00000366647.4	+	10	1555	c.1386G>C	c.(1384-1386)tcG>tcC	p.S462S	GNPAT_ENST00000366646.3_Silent_p.S401S	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	462					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				CCGGAGACTCGGAAGTGGTCG	0.507000													47	15					0	0	0.003610	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862951	10862951	+	RNA	SNP	T	T	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr21:10862951T>G	ENST00000559480.1	+	0	247																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						TGCACAGAAGTTCCAGGCCAG	0.532000													94	127					0	0	0.003610	0	0
SLC9A8	23315	broad.mit.edu	37	20	48491357	48491357	+	Splice_Site	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr20:48491357T>A	ENST00000417961.1	+	11	1332	c.1123_splice	c.e11+1	p.C374_splice	SLC9A8_ENST00000541138.1_Splice_Site_p.C58_splice|SLC9A8_ENST00000539601.1_Splice_Site_p.C139_splice|SLC9A8_ENST00000361573.2_Splice_Site_p.C358_splice	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	358						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			CCTTCTTATGTGGTGAGTTCT	0.547000													24	101					0	0	0.003954	0	0
ARC	23237	broad.mit.edu	37	8	143694774	143694774	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:143694774C>T	ENST00000356613.2	-	1	2059	c.859G>A	c.(859-861)Gag>Aag	p.E287K		NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	287					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				AGGTCCAGCTCGCGCTGGATG	0.642000													13	68					0	0	0.001368	0	0
EPB41L2	2037	broad.mit.edu	37	6	131211455	131211455	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:131211455C>A	ENST00000337057.3	-	11	1820	c.1639G>T	c.(1639-1641)Gtc>Ttc	p.V547F	EPB41L2_ENST00000368128.2_Missense_Mutation_p.V547F|EPB41L2_ENST00000527411.1_Missense_Mutation_p.V547F|EPB41L2_ENST00000525271.1_Missense_Mutation_p.V547F|EPB41L2_ENST00000530481.1_Missense_Mutation_p.V547F|EPB41L2_ENST00000525193.1_Missense_Mutation_p.V547F|EPB41L2_ENST00000529208.1_Missense_Mutation_p.V547F|EPB41L2_ENST00000445890.2_Missense_Mutation_p.V547F|EPB41L2_ENST00000528282.1_Missense_Mutation_p.V547F|EPB41L2_ENST00000527659.1_Missense_Mutation_p.V547F|EPB41L2_ENST00000392427.3_Missense_Mutation_p.V547F	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	547	Hydrophilic.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTCCTGGAGACCCGTTTACTA	0.448000													64	19					3.07184e-27	5.59817e-27	0.003610	1	0
SIRPB2	284759	broad.mit.edu	37	20	1458023	1458023	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr20:1458023T>A	ENST00000381630.1	-	4	550	c.527A>T	c.(526-528)cAg>cTg	p.Q176L	SIRPB2_ENST00000537284.1_Silent_p.A135A|SIRPB2_ENST00000359801.3_Silent_p.A273A|SIRPB2_ENST00000444444.1_Silent_p.A175A			Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	0	Ig-like V-type 2.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGGTGAATTCTGCCTCTTTGG	0.517000													57	91					0	0	0.003610	0	0
KRT31	3881	broad.mit.edu	37	17	39551865	39551865	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:39551865G>T	ENST00000251645.2	-	4	651	c.599C>A	c.(598-600)aCc>aAc	p.T200N		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	200	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GCAGCGCAGGGTATTGACCTC	0.493000													28	12					2.12542e-12	2.98991e-12	0.006320	1	0
UNC79	57578	broad.mit.edu	37	14	94008975	94008975	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr14:94008975C>A	ENST00000553484.1	+	14	1842	c.1688C>A	c.(1687-1689)aCc>aAc	p.T563N	UNC79_ENST00000393151.2_Missense_Mutation_p.T563N|UNC79_ENST00000256339.4_Missense_Mutation_p.T386N|UNC79_ENST00000555664.1_Missense_Mutation_p.T563N			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	563						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGGCTGAAGACCGTATGTGAT	0.478000													70	55					5.88917e-42	1.14669e-41	0.003610	1	0
MCC	4163	broad.mit.edu	37	5	112676326	112676326	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:112676326C>A	ENST00000408903.3	-	3	932	c.517G>T	c.(517-519)Gag>Tag	p.E173*	CTD-2201G3.1_ENST00000416046.2_RNA	NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CCGCCATACTCGAGCAGCTTC	0.577000													13	18					7.03913e-09	8.98368e-09	0.001368	1	0
OR4N5	390437	broad.mit.edu	37	14	20612261	20612261	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr14:20612261T>A	ENST00000333629.1	+	1	367	c.367T>A	c.(367-369)Tac>Aac	p.Y123N		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CTTTGACCGCTACATCGCCAT	0.483000													43	74					0	0	0.007835	0	0
OR2W5	441932	broad.mit.edu	37	1	247654765	247654765	+	RNA	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:247654765C>G	ENST00000522351.1	+	0	396							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	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;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCACCGAGTGCGTCCTCCTGG	0.602000													26	56					0	0	0.005443	0	0
HERC1	8925	broad.mit.edu	37	15	63990931	63990931	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr15:63990931G>T	ENST00000443617.2	-	26	4988	c.4901C>A	c.(4900-4902)gCa>gAa	p.A1634E	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1634					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACTTACTTCTGCCCTTAACTG	0.423000													3	21					0.00024832	0.000269641	0.009096	1	0
PM20D2	135293	broad.mit.edu	37	6	89868113	89868113	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:89868113A>G	ENST00000275072.4	+	5	1077	c.982A>G	c.(982-984)Atg>Gtg	p.M328V		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	328							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		GAAAGCCTATATGGAAAATGG	0.308000													35	7					0	0	0.004289	0	0
SPAM1	6677	broad.mit.edu	37	7	123593726	123593726	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:123593726G>T	ENST00000340011.5	+	3	459	c.102G>T	c.(100-102)ttG>ttT	p.L34F	SPAM1_ENST00000223028.7_Missense_Mutation_p.L34F|SPAM1_ENST00000402183.2_Missense_Mutation_p.L34F|SPAM1_ENST00000439500.1_Missense_Mutation_p.L34F|SPAM1_ENST00000460182.1_Missense_Mutation_p.L34F	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	34					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	CATGTTGCTTGACTCTGAATT	0.418000													7	30					5.4927e-09	7.02438e-09	0.004482	1	0
GSG1L	146395	broad.mit.edu	37	16	27818864	27818864	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr16:27818864C>G	ENST00000380898.2	-	7	980	c.431G>C	c.(430-432)aGg>aCg	p.R144T	GSG1L_ENST00000569166.1_Missense_Mutation_p.R144T|GSG1L_ENST00000395724.3_Missense_Mutation_p.R230T|GSG1L_ENST00000447459.2_Missense_Mutation_p.R281T|GSG1L_ENST00000380897.3_Missense_Mutation_p.R126T			Q6UXU4	GSG1L_HUMAN	GSG1-like	281						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						GCTCCCGTCCCTCTTCTCCAT	0.483000													15	16					0	0	0.002450	0	0
BNC1	646	broad.mit.edu	37	15	83932172	83932172	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr15:83932172G>C	ENST00000345382.2	-	4	1916	c.1831C>G	c.(1831-1833)Cgt>Ggt	p.R611G	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.R604G	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	611					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R611C(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ACTGATTCACGATGGCAGGGC	0.547000													48	25					0	0	0.013114	0	0
BAI1	575	broad.mit.edu	37	8	143620762	143620762	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:143620762G>T	ENST00000517894.1	+	27	4588	c.3694G>T	c.(3694-3696)Gcc>Tcc	p.A1232S	BAI1_ENST00000323289.5_Missense_Mutation_p.A1232S			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1232					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CGTGGATCTGGCCTGTAGATC	0.667000													14	6					2.48551e-13	3.56047e-13	0.004990	1	0
MYOC	4653	broad.mit.edu	37	1	171621499	171621499	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:171621499G>T	ENST00000037502.5	-	1	312	c.253C>A	c.(253-255)Ctg>Atg	p.L85M		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	85					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GTGGCCTCCAGGTCTAAGCGT	0.602000													22	50					0.00229938	0.00243144	0.002299	1	0
EYS	346007	broad.mit.edu	37	6	66205227	66205227	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:66205227C>T	ENST00000503581.1	-	4	614	c.77G>A	c.(76-78)cGg>cAg	p.R26Q	EYS_ENST00000370621.3_Missense_Mutation_p.R26Q|EYS_ENST00000342421.5_Missense_Mutation_p.R26Q|EYS_ENST00000393380.2_Missense_Mutation_p.R26Q|EYS_ENST00000370616.2_Missense_Mutation_p.R26Q|EYS_ENST00000370618.3_Missense_Mutation_p.R26Q	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	26					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CACCAATTGCCGTCTACATGT	0.398000													30	5					0	0	0.007291	0	0
UNC5D	137970	broad.mit.edu	37	8	35579785	35579785	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:35579785C>A	ENST00000287272.2	+	8	1027	c.1007C>A	c.(1006-1008)gCc>gAc	p.A336D	UNC5D_ENST00000453357.2_Missense_Mutation_p.A387D|UNC5D_ENST00000420357.1_Missense_Mutation_p.A325D|UNC5D_ENST00000416672.1_Missense_Mutation_p.A397D|UNC5D_ENST00000404895.2_Missense_Mutation_p.A392D			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	392	TSP type-1 2.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GCCGTCGTGGCCGTTGCAGTC	0.532000													57	96					1.08141e-31	2.02683e-31	0.003610	1	0
LMBRD1	55788	broad.mit.edu	37	6	70462161	70462161	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:70462161C>G	ENST00000370577.3	-	4	624	c.395G>C	c.(394-396)aGt>aCt	p.S132T	LMBRD1_ENST00000370570.1_Missense_Mutation_p.S59T	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	132					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						AGTACATTTACTAGTATCATC	0.294000													9	7					0	0	0.004482	0	0
CCDC27	148870	broad.mit.edu	37	1	3669272	3669272	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:3669272G>T	ENST00000294600.2	+	1	311	c.227G>T	c.(226-228)cGg>cTg	p.R76L		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	76										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		ATGGCCAGCCGGGACGCCCGG	0.622000													18	61					8.34094e-07	1.00509e-06	0.008871	1	0
TMEM132D	121256	broad.mit.edu	37	12	129694181	129694181	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:129694181G>T	ENST00000422113.2	-	5	1653	c.1327C>A	c.(1327-1329)Ctc>Atc	p.L443I	RP11-669N7.3_ENST00000542578.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	443						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTCCCCGTGAGGATGGCTGTG	0.602000													12	59					4.36969e-10	5.75274e-10	0.001855	1	0
MUC17	140453	broad.mit.edu	37	7	100674437	100674437	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:100674437G>C	ENST00000306151.4	+	2	183	c.119G>C	c.(118-120)gGg>gCg	p.G40A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	40						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)					GATGGAGGAGGGTGCATCTCC	0.522000													20	96					0	0	0.002299	0	0
TNNI3	7137	broad.mit.edu	37	19	55666188	55666188	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:55666188C>G	ENST00000344887.5	-	6	435	c.293G>C	c.(292-294)cGa>cCa	p.R98P	CTD-2587H24.4_ENST00000587871.1_3'UTR|TNNI3_ENST00000590463.1_5'UTR|TNNI3_ENST00000588882.1_Missense_Mutation_p.R73P	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	98					cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GTGGAGCTGTCGGCACAAGTC	0.587000													23	10					0	0	0.003330	0	0
PAK7	57144	broad.mit.edu	37	20	9546657	9546657	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr20:9546657G>T	ENST00000378429.3	-	6	1911	c.1365C>A	c.(1363-1365)atC>atA	p.I455I	PAK7_ENST00000378423.1_Silent_p.I455I|PAK7_ENST00000353224.5_Silent_p.I455I	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	455	Protein kinase.						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)			AGCCTTCCCCGATTTTGATAA	0.562000													63	98					1.85257e-25	3.3182e-25	0.003610	1	0
COL3A1	1281	broad.mit.edu	37	2	189850439	189850439	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:189850439C>T	ENST00000304636.3	+	4	552	c.382C>T	c.(382-384)Caa>Taa	p.Q128*	COL3A1_ENST00000317840.5_Nonsense_Mutation_p.Q128*	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	128					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TATTCCAGGACAACCAGGGTC	0.443000													16	29					0	0	0.007413	0	0
DDHD1	80821	broad.mit.edu	37	14	53525260	53525260	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr14:53525260C>A	ENST00000357758.3	-	9	2110	c.1927G>T	c.(1927-1929)Gac>Tac	p.D643Y	DDHD1_ENST00000323669.5_Missense_Mutation_p.D643Y|DDHD1_ENST00000395606.1_Missense_Mutation_p.D650Y	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	643	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					AAAATATGGTCTTGACTTCCA	0.393000													14	27					1.49906e-05	1.70931e-05	0.002450	1	0
LRP1B	53353	broad.mit.edu	37	2	141819818	141819818	+	Silent	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:141819818C>G	ENST00000389484.3	-	8	2009	c.1038G>C	c.(1036-1038)ggG>ggC	p.G346G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	346					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)		TGGCGACATTCCCGTAGTCAG	0.448000										TSP Lung(27;0.18)			10	51					0	0	0.008291	0	0
PAX5	5079	broad.mit.edu	37	9	36882061	36882061	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr9:36882061G>T	ENST00000358127.4	-	8	1026	c.952C>A	c.(952-954)Cac>Aac	p.H318N	PAX5_ENST00000522003.1_Missense_Mutation_p.H210N|PAX5_ENST00000377852.2_Intron|PAX5_ENST00000520281.1_Missense_Mutation_p.H275N|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000414447.1_Missense_Mutation_p.H275N|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000377853.2_Missense_Mutation_p.H318N|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000523145.1_Intron	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	318					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(22)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GGGGGGACGTGTGGAGGGTAC	0.637000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								9	20					2.27111e-07	2.79041e-07	0.001368	1	0
ANO7	50636	broad.mit.edu	37	2	242144350	242144350	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:242144350G>T	ENST00000274979.8	+	10	1225	c.1122G>T	c.(1120-1122)ctG>ctT	p.L374L	ANO7_ENST00000402430.3_Silent_p.L373L	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	374						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GCTGCTTCCTGGTGTTCTCAG	0.642000													22	58					4.26978e-12	5.92e-12	0.003330	1	0
ANKK1	255239	broad.mit.edu	37	11	113269850	113269850	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:113269850G>T	ENST00000303941.3	+	8	1253	c.1159G>T	c.(1159-1161)Gac>Tac	p.D387Y		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	387							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)		CCACGAGGTAGACGTGGACTG	0.617000													3	8					0.004672	0.00490305	0.004672	1	0
ST18	9705	broad.mit.edu	37	8	53085144	53085144	+	Splice_Site	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:53085144C>G	ENST00000276480.7	-	10	961		c.e10-1			NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ATGATTTCCTCTATGGAAAAA	0.308000													23	9					0	0	0.002780	0	0
SAG	6295	broad.mit.edu	37	2	234224723	234224723	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:234224723G>T	ENST00000409110.1	+	3	308	c.78G>T	c.(76-78)gtG>gtT	p.V26V		NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	26					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TCTTGCAGGTGACCATCTACC	0.507000													3	6					2.56e-06	3.02655e-06	0.009096	1	0
DCAF12L1	139170	broad.mit.edu	37	X	125686543	125686543	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chrX:125686543C>A	ENST00000371126.1	-	1	291	c.49G>T	c.(49-51)Gag>Tag	p.E17*		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	17										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						GCGTCCGCCTCGACCGCGGGC	0.726000													37	12					2.6416e-12	3.70356e-12	0.006230	1	0
RASSF2	9770	broad.mit.edu	37	20	4768349	4768349	+	Missense_Mutation	SNP	T	T	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr20:4768349T>G	ENST00000379400.3	-	10	938	c.743A>C	c.(742-744)cAg>cCg	p.Q248P	RASSF2_ENST00000478553.1_Splice_Site|RASSF2_ENST00000379376.2_Missense_Mutation_p.Q248P	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	248	Ras-associating.				cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						ACATGGGCCCTGGAGGATTCG	0.552000													29	32					0	0	0.006320	0	0
VWA3A	146177	broad.mit.edu	37	16	22144393	22144393	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr16:22144393G>A	ENST00000389398.5	+	20	2141	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	682	VWFA 1.					extracellular region		p.R682H(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GCAGGTGGCCGCTTCCACTGG	0.582000													5	22					0	0	0.000602	0	0
OR51I2	390064	broad.mit.edu	37	11	5474973	5474973	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:5474973C>T	ENST00000341449.2	+	1	336	c.255C>T	c.(253-255)ttC>ttT	p.F85F	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCGAACCTTCTGCCTCAATG	0.488000													23	52					0	0	0.003954	0	0
C6	729	broad.mit.edu	37	5	41181494	41181494	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:41181494G>A	ENST00000263413.3	-	7	1158	c.894C>T	c.(892-894)gcC>gcT	p.A298A	C6_ENST00000337836.5_Silent_p.A298A|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	298	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.A298A(1)		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)				CTTGTTTGAAGGCAGAATTAT	0.353000													14	96					0	0	0.003163	0	0
KCNH7	90134	broad.mit.edu	37	2	163256746	163256746	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:163256746C>A	ENST00000332142.5	-	10	2459	c.2360G>T	c.(2359-2361)aGa>aTa	p.R787I		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	787					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AATGGAGCCTCTGGATAAGAA	0.443000													21	54					1.00905e-13	1.47069e-13	0.008871	1	0
AKAP1	8165	broad.mit.edu	37	17	55183864	55183864	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:55183864G>C	ENST00000337714.3	+	2	1272	c.1039G>C	c.(1039-1041)Gct>Cct	p.A347P	AKAP1_ENST00000572557.1_Missense_Mutation_p.A347P|AKAP1_ENST00000571629.1_Missense_Mutation_p.A347P|AKAP1_ENST00000314126.3_Missense_Mutation_p.A347P|AKAP1_ENST00000539273.1_Missense_Mutation_p.A347P	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	347	PKA-RII subunit binding domain.				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GATTAAGCGGGCTGCCTTCCA	0.517000													44	42					0	0	0.003610	0	0
TRIM27	5987	broad.mit.edu	37	6	28872321	28872321	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:28872321C>A	ENST00000377199.3	-	8	1424	c.1068G>T	c.(1066-1068)ctG>ctT	p.L356L	TRIM27_ENST00000377194.3_Intron	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	356	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CACAGGGAAACAGATTGAACC	0.542000			T	RET	papillary thyroid								37	4					2.42023e-17	3.86496e-17	0.003271	1	0
UBAP2L	9898	broad.mit.edu	37	1	154209593	154209593	+	Missense_Mutation	SNP	T	T	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:154209593T>G	ENST00000428931.1	+	8	851	c.684T>G	c.(682-684)ttT>ttG	p.F228L	UBAP2L_ENST00000361546.2_Missense_Mutation_p.F228L|UBAP2L_ENST00000343815.6_Missense_Mutation_p.F228L|UBAP2L_ENST00000271877.7_Missense_Mutation_p.F239L	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	228					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTGGCCACTTTGAACCAGATG	0.403000													27	55					0	0	0.005443	0	0
IQUB	154865	broad.mit.edu	37	7	123143031	123143031	+	Silent	SNP	G	G	A	rs143722337	byFrequency	TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:123143031G>A	ENST00000466202.1	-	5	1410	c.834C>T	c.(832-834)ccC>ccT	p.P278P	IQUB_ENST00000434450.1_Silent_p.P278P|IQUB_ENST00000324698.6_Silent_p.P278P|IQUB_ENST00000488987.1_5'UTR			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	278										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TGAGTCTTTCGGGAATCCTTT	0.353000													14	54					0	0	0.001855	0	0
IFIT5	24138	broad.mit.edu	37	10	91177355	91177355	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:91177355C>G	ENST00000371795.4	+	2	612	c.399C>G	c.(397-399)taC>taG	p.Y133*	IFIT5_ENST00000416601.1_Nonsense_Mutation_p.Y133*	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	133							binding			endometrium(1)|large_intestine(4)|lung(4)	9						CTTCTAACTACAAGTTGGAGT	0.433000													13	29					0	0	0.001368	0	0
CD276	80381	broad.mit.edu	37	15	73996311	73996311	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr15:73996311A>T	ENST00000318443.5	+	5	1347	c.1045A>T	c.(1045-1047)Agc>Tgc	p.S349C	CD276_ENST00000537340.2_Missense_Mutation_p.S203C|CD276_ENST00000318424.5_Intron|CD276_ENST00000564751.1_Intron|CD276_ENST00000561213.1_Missense_Mutation_p.S349C	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	349	Ig-like V-type 2.				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						GGATTTCGGCAGCGCTGCCGT	0.667000													8	15					0	0	0.004482	0	0
BATF2	116071	broad.mit.edu	37	11	64756724	64756724	+	Silent	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:64756724A>T	ENST00000301887.4	-	3	832	c.702T>A	c.(700-702)cgT>cgA	p.R234R	BATF2_ENST00000435842.2_Silent_p.R149R|BATF2_ENST00000527716.1_Silent_p.R210R	NM_138456.3	NP_612465.3	Q8N1L9	BATF2_HUMAN	basic leucine zipper transcription factor, ATF-like 2	234						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1)	9						TGCTCTGCAGACGTGCAAGCC	0.637000													23	28					0	0	0.003330	0	0
LRRK2	120892	broad.mit.edu	37	12	40672061	40672061	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:40672061C>T	ENST00000298910.7	+	18	2297	c.2239C>T	c.(2239-2241)Cag>Tag	p.Q747*	LRRK2_ENST00000343742.2_Nonsense_Mutation_p.Q747*	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	747					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTAATTTGTCAGGTAAATAT	0.378000													107	10					0	0	0.003610	0	0
LAMB4	22798	broad.mit.edu	37	7	107706881	107706881	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:107706881G>T	ENST00000388781.3	-	20	2694	c.2611C>A	c.(2611-2613)Ctt>Att	p.L871I	LAMB4_ENST00000205386.4_Missense_Mutation_p.L871I|LAMB4_ENST00000388780.3_Missense_Mutation_p.L871I	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	871	Laminin EGF-like 8.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GGATCACAAAGTTCAGCAAAC	0.488000													7	54					5.18039e-06	6.04459e-06	0.003080	1	0
KCNH1	3756	broad.mit.edu	37	1	211192569	211192569	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:211192569G>T	ENST00000367007.4	-	6	757	c.588C>A	c.(586-588)ccC>ccA	p.P196P	KCNH1_ENST00000271751.4_Silent_p.P196P	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	196					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GCTTGTACTGGGGAAGGATGT	0.433000													21	14					2.37509e-13	3.41402e-13	0.010504	1	0
RTP2	344892	broad.mit.edu	37	3	187416724	187416724	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:187416724G>T	ENST00000358241.1	-	2	668	c.240C>A	c.(238-240)cgC>cgA	p.R80R		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	80					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		CCCGCTGGGCGCGGTCCAGGA	0.657000													15	17					0.000219431	0.000239519	0.002450	1	0
MYH15	22989	broad.mit.edu	37	3	108182078	108182078	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:108182078T>C	ENST00000273353.3	-	17	1860	c.1804A>G	c.(1804-1806)Atc>Gtc	p.I602V		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	602	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CAACCACTGATATTATAAGGT	0.373000													51	99					0	0	0.003610	0	0
PLXNA4	91584	broad.mit.edu	37	7	131865396	131865396	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:131865396A>T	ENST00000359827.3	-	19	4550	c.3588T>A	c.(3586-3588)gaT>gaA	p.D1196E	PLXNA4_ENST00000321063.4_Missense_Mutation_p.D1196E			Q9HCM2	PLXA4_HUMAN	plexin A4	1196	IPT/TIG 4.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCAGCTGGACATCTGACACGG	0.607000													6	32					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179434970	179434970	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:179434970C>A	ENST00000589042.1	-	326	76113	c.75889G>T	c.(75889-75891)Gtt>Ttt	p.V25297F	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V16357F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V22729F|TTN_ENST00000342175.6_Missense_Mutation_p.V16424F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V16232F|TTN_ENST00000591111.1_Missense_Mutation_p.V23656F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23656	Ig-like 124.						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)			TTCTTGGCAACTACTGGCTCA	0.418000													13	53					5.50884e-06	6.38617e-06	0.001368	1	0
PRDM10	56980	broad.mit.edu	37	11	129814700	129814700	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:129814700C>G	ENST00000358825.5	-	6	959	c.728G>C	c.(727-729)gGc>gCc	p.G243A	PRDM10_ENST00000360871.3_Missense_Mutation_p.G243A|PRDM10_ENST00000304538.6_Missense_Mutation_p.G157A|PRDM10_ENST00000526082.1_Missense_Mutation_p.G157A|PRDM10_ENST00000423662.2_Missense_Mutation_p.G157A|PRDM10_ENST00000528746.1_Missense_Mutation_p.G217A	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	243	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CAGCTCCGAGCCCCTGACGAG	0.552000													23	72					0	0	0.002299	0	0
ZNF728	388523	broad.mit.edu	37	19	23159821	23159821	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:23159821A>T	ENST00000594710.1	-	4	463	c.318T>A	c.(316-318)tgT>tgA	p.C106*		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		TCTCATGTCCACATTTTTCAT	0.348000													20	20					0	0	0.007413	0	0
BDKRB2	624	broad.mit.edu	37	14	96707718	96707718	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr14:96707718C>T	ENST00000542454.2	+	3	4060	c.972C>T	c.(970-972)tgC>tgT	p.C324C	BDKRB2_ENST00000539359.1_Silent_p.C324C|BDKRB2_ENST00000306005.3_Silent_p.C351C|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000554311.1_Silent_p.C351C			P30411	BKRB2_HUMAN	bradykinin receptor B2	351					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		AGGGAGTGTGCCAGAAAGGGG	0.572000													3	33					0	0	0.001168	0	0
LDHAL6B	92483	broad.mit.edu	37	15	59499602	59499602	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr15:59499602C>A	ENST00000307144.4	+	1	561	c.463C>A	c.(463-465)Cgc>Agc	p.R155S	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	155					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	GGGAGAAACGCGCCTTAATTT	0.418000													61	39					2.30037e-20	3.8555e-20	0.003610	1	0
SYT16	83851	broad.mit.edu	37	14	62547902	62547902	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr14:62547902G>A	ENST00000430451.2	+	4	1541	c.1344G>A	c.(1342-1344)atG>atA	p.M448I		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	448	C2 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GAGAGAGAATGATGGGAGAGA	0.532000													7	20					0	0	0.001984	0	0
LRP1B	53353	broad.mit.edu	37	2	142004822	142004822	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:142004822C>G	ENST00000389484.3	-	5	1536	c.565G>C	c.(565-567)Gac>Cac	p.D189H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	189	EGF-like 2; calcium-binding (Potential).				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)		GATCTGTTGTCTGGCTGCATT	0.383000										TSP Lung(27;0.18)			13	53					0	0	0.001368	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28296872	28296872	+	Missense_Mutation	SNP	C	C	A	rs147165669		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr21:28296872C>A	ENST00000284987.5	-	8	2414	c.2293G>T	c.(2293-2295)Gcc>Tcc	p.A765S	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	765	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGGTCTTTGGCTTTGAACTGT	0.443000													59	18					4.33383e-22	7.46349e-22	0.003610	1	0
GATA4	2626	broad.mit.edu	37	8	11607676	11607676	+	Silent	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:11607676G>C	ENST00000335135.4	+	4	1398	c.840G>C	c.(838-840)acG>acC	p.T280T	GATA4_ENST00000532059.1_Silent_p.T281T|GATA4_ENST00000528712.1_Silent_p.T74T	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	280	Poly-Thr.				atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CCACCACCACGCTGTGGCGCC	0.622000													24	10					0	0	0.004656	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869448	36869448	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr20:36869448G>T	ENST00000279024.4	-	3	1356	c.1085C>A	c.(1084-1086)aCc>aAc	p.T362N		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	362										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGAGTTGTGGGTGGGTGCTTT	0.542000													96	91					1.15966e-41	2.25099e-41	0.003610	1	0
UMOD	7369	broad.mit.edu	37	16	20348729	20348729	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr16:20348729C>A	ENST00000396134.2	-	9	1846	c.1723G>T	c.(1723-1725)Gag>Tag	p.E575*	UMOD_ENST00000396142.2_Nonsense_Mutation_p.E542*|UMOD_ENST00000302509.4_Nonsense_Mutation_p.E542*|UMOD_ENST00000570689.1_Nonsense_Mutation_p.E542*|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000424589.1_Nonsense_Mutation_p.E575*|UMOD_ENST00000396138.4_Nonsense_Mutation_p.E591*	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	542	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGGGAGGACTCCCCATTCTCC	0.473000													18	40					1.56452e-12	2.20832e-12	0.007413	1	0
CSMD3	114788	broad.mit.edu	37	8	113347650	113347650	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:113347650G>T	ENST00000297405.5	-	45	7317	c.7073C>A	c.(7072-7074)gCt>gAt	p.A2358D	CSMD3_ENST00000352409.3_Missense_Mutation_p.A2288D|CSMD3_ENST00000455883.2_Missense_Mutation_p.A2254D|CSMD3_ENST00000343508.3_Missense_Mutation_p.A2318D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2358	CUB 13.					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						TGATTCCAAAGCGGTATTGCC	0.418000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	65					3.07112e-06	3.60698e-06	0.010729	1	0
PHLDB3	653583	broad.mit.edu	37	19	43979578	43979578	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:43979578T>C	ENST00000292140.5	-	16	2267	c.1907A>G	c.(1906-1908)gAa>gGa	p.E636G		NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	636										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				GGCGTGGTTTTCGTCAGCGGC	0.672000													6	17					0	0	0.003080	0	0
PDCD6IP	10015	broad.mit.edu	37	3	33870350	33870350	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:33870350G>T	ENST00000307296.3	+	7	1100	c.723G>T	c.(721-723)gtG>gtT	p.V241V	PDCD6IP_ENST00000457054.2_Silent_p.V246V			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	241	BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TCCAGGAGGTGTTCCCTGTCT	0.448000													26	16					2.44723e-14	3.63456e-14	0.004656	1	0
ADCY2	108	broad.mit.edu	37	5	7784549	7784549	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:7784549T>C	ENST00000338316.4	+	19	2545	c.2456T>C	c.(2455-2457)gTt>gCt	p.V819A	ADCY2_ENST00000537121.1_Missense_Mutation_p.V639A	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	819					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						ACACTGCTTGTTCTGGGTAGA	0.378000													51	88					0	0	0.003610	0	0
CPS1	1373	broad.mit.edu	37	2	211502454	211502454	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:211502454A>T	ENST00000233072.5	+	22	2912	c.2716A>T	c.(2716-2718)Agg>Tgg	p.R906W	CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000451903.2_Missense_Mutation_p.R455W|CPS1_ENST00000430249.2_Missense_Mutation_p.R912W	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	906					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)		AACCCTGAAAAGGGCAAAGGA	0.413000													14	29					0	0	0.003163	0	0
CDK4	1019	broad.mit.edu	37	12	58145434	58145434	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:58145434C>A	ENST00000257904.6	-	2	432	c.67G>T	c.(67-69)Gcc>Tcc	p.A23S	CDK4_ENST00000549606.1_Intron|CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000540325.1_5'UTR|CDK4_ENST00000312990.6_Missense_Mutation_p.A23S	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	23	Protein kinase.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GGATCACGGGCCTTGTACACT	0.552000			Mis			melanoma			Hereditary Melanoma				32	50					6.50621e-10	8.52961e-10	0.002836	1	0
TMPRSS6	164656	broad.mit.edu	37	22	37485704	37485704	+	Silent	SNP	G	G	T	rs148065950		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr22:37485704G>T	ENST00000381792.2	-	7	890	c.750C>A	c.(748-750)ctC>ctA	p.L250L	TMPRSS6_ENST00000406725.1_Silent_p.L250L|TMPRSS6_ENST00000406856.1_Silent_p.L250L|TMPRSS6_ENST00000346753.3_Silent_p.L259L|TMPRSS6_ENST00000442782.2_Silent_p.L259L			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	259	CUB 1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						ACTCCAGCCGGAGTTTGAGCA	0.677000													15	4					9.16793e-09	1.1653e-08	0.004990	1	0
BAG6	7917	broad.mit.edu	37	6	31617043	31617043	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:31617043C>A	ENST00000404765.2	-	4	645	c.356G>T	c.(355-357)gGg>gTg	p.G119V	BAG6_ENST00000375964.6_Missense_Mutation_p.G119V|BAG6_ENST00000375976.4_Missense_Mutation_p.G119V|BAG6_ENST00000439687.2_Missense_Mutation_p.G119V|BAG6_ENST00000211379.5_Missense_Mutation_p.G119V|BAG6_ENST00000362049.6_Missense_Mutation_p.G119V			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	119					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GGCCCCAGGCCCCCGAGTACC	0.587000													99	12					2.35538e-29	4.34947e-29	0.003610	1	0
PROSC	11212	broad.mit.edu	37	8	37632908	37632908	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:37632908A>T	ENST00000328195.3	+	6	573	c.506A>T	c.(505-507)aAc>aTc	p.N169I		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	169							pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)	GAGCACATAAACGCCAAGTGT	0.478000													95	30					0	0	0.003610	0	0
TRAT1	50852	broad.mit.edu	37	3	108572490	108572490	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:108572490C>A	ENST00000295756.6	+	6	557	c.327C>A	c.(325-327)tgC>tgA	p.C109*	TRAT1_ENST00000426646.1_Nonsense_Mutation_p.C72*	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	109					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						CACAGATGTGCTACGCCTCAC	0.413000													18	83					1.00905e-13	1.47069e-13	0.008871	1	0
XIST	7503	broad.mit.edu	37	X	73071574	73071574	+	RNA	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chrX:73071574C>A	ENST00000429829.1	-	0	1014					NR_001564.2																						TCTGCCTGACCTGCTATCATC	0.473000													31	9					3.80469e-20	6.34285e-20	0.009535	1	0
IWS1	55677	broad.mit.edu	37	2	128262644	128262644	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:128262644C>G	ENST00000295321.4	-	3	1094	c.835G>C	c.(835-837)Gag>Cag	p.E279Q	IWS1_ENST00000455721.2_Missense_Mutation_p.E286Q|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	279	3 X approximate tandem repeats.|Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GGGGGATCCTCACTTTCCGAA	0.552000													88	105					0	0	0.003610	0	0
MEGF10	84466	broad.mit.edu	37	5	126781278	126781278	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:126781278C>A	ENST00000274473.6	+	21	2888	c.2621C>A	c.(2620-2622)gCa>gAa	p.A874E	MEGF10_ENST00000503335.2_Missense_Mutation_p.A874E|MEGF10_ENST00000510828.1_Intron	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	874					cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TTCCTACTGGCATTGTTCATT	0.473000													27	12					3.28513e-13	4.67916e-13	0.003954	1	0
FAM3C	10447	broad.mit.edu	37	7	120991232	120991232	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:120991232C>A	ENST00000359943.3	-	9	772	c.559G>T	c.(559-561)Ggg>Tgg	p.G187W		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	187					multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity			kidney(1)|lung(8)	9	all_neural(327;0.117)					ATGCCCTTCCCACCACAGAAG	0.418000													16	23					5.03518e-11	6.78584e-11	0.007413	1	0
IL16	3603	broad.mit.edu	37	15	81592382	81592382	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr15:81592382C>A	ENST00000394660.2	+	14	3075	c.2715C>A	c.(2713-2715)tcC>tcA	p.S905S	IL16_ENST00000302987.4_Silent_p.S905S|IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394652.2_Silent_p.S204S	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	905					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AAGTACTGTCCTCGGGGTCCC	0.642000													31	54					7.01153e-11	9.39876e-11	0.007291	1	0
TTN	7273	broad.mit.edu	37	2	179606386	179606386	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:179606386C>A	ENST00000589042.1	-	48	11798	c.11574G>T	c.(11572-11574)gtG>gtT	p.V3858V	TTN_ENST00000359218.5_Silent_p.V3620V|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Silent_p.V3687V|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.V3495V|TTN_ENST00000591111.1_Silent_p.V3541V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3541							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)			GGGTTAATAGCACTCCATTAA	0.413000													13	85					4.93089e-13	7.01531e-13	0.002450	1	0
OR4K2	390431	broad.mit.edu	37	14	20344870	20344870	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr14:20344870C>A	ENST00000298642.2	+	1	480	c.444C>A	c.(442-444)tcC>tcA	p.S148S		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGTGGCTTCCTGGATTATGG	0.468000													38	84					9.8876e-21	1.66612e-20	0.004878	1	0
SETBP1	26040	broad.mit.edu	37	18	42531800	42531800	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr18:42531800C>T	ENST00000282030.5	+	4	2791	c.2495C>T	c.(2494-2496)cCc>cTc	p.P832L		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	832						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)		CTGTCTCCACCCAGACTGATG	0.517000									Schinzel-Giedion syndrome				26	44					0	0	0.003954	0	0
NOV	4856	broad.mit.edu	37	8	120430298	120430298	+	Splice_Site	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:120430298C>A	ENST00000259526.3	+	3	538	c.310_splice	c.e3-1	p.A104_splice		NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	nephroblastoma overexpressed	104	IGFBP N-terminal.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AATATTCTAGCGGTAGAGGGA	0.458000													103	53					3.27315e-48	6.41312e-48	0.003610	1	0
C8orf34	116328	broad.mit.edu	37	8	69434070	69434070	+	Missense_Mutation	SNP	C	C	T	rs138458632		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:69434070C>T	ENST00000337103.4	+	5	2061	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	C8orf34_ENST00000518698.1_Missense_Mutation_p.R268C|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000539993.1_Missense_Mutation_p.R182C|C8orf34_ENST00000348340.2_Missense_Mutation_p.R182C			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	182					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TCTGAGGCCCCGTGTGATTGG	0.408000													9	77					0	0	0.004482	0	0
APBA2	321	broad.mit.edu	37	15	29385416	29385416	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr15:29385416G>C	ENST00000558402.1	+	8	1807	c.1208G>C	c.(1207-1209)cGg>cCg	p.R403P	APBA2_ENST00000558259.1_Missense_Mutation_p.R403P|APBA2_ENST00000558330.1_Missense_Mutation_p.R403P|APBA2_ENST00000561069.1_Missense_Mutation_p.R403P|APBA2_ENST00000411764.1_Missense_Mutation_p.R403P			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	403	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GCCGTCAGCCGGGTCAAGGTA	0.597000													4	37					0	0	0.009096	0	0
LOC647264	647264	broad.mit.edu	37	13	64321049	64321049	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr13:64321049G>T	ENST00000453638.2	+	1	116	c.116G>T	c.(115-117)gGc>gTc	p.G39V																	endometrium(2)|lung(1)|urinary_tract(1)	4						tatggaactggctacagctgt	0.552000													9	46					0.000274275	0.000296796	0.004482	1	0
METAP1D	254042	broad.mit.edu	37	2	172942622	172942622	+	Splice_Site	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:172942622G>T	ENST00000315796.4	+	7	1189	c.802_splice	c.e7+1	p.A268_splice	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	268					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						TTGGCATCATGGTAAGAAAGT	0.408000													20	26					2.32416e-17	3.72579e-17	0.002299	1	0
AKAP10	11216	broad.mit.edu	37	17	19827722	19827722	+	Splice_Site	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:19827722C>T	ENST00000225737.6	-	11	1907	c.1751_splice	c.e11+1	p.G584_splice	AKAP10_ENST00000395536.3_Splice_Site_p.G526_splice	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	584					blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					TAAGCTTACCCGGCATATGTC	0.289000													5	17					0	0	0.000602	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763592	77763592	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:77763592G>T	ENST00000521891.2	+	10	4883	c.4435G>T	c.(4435-4437)Gat>Tat	p.D1479Y	ZFHX4_ENST00000518282.1_Missense_Mutation_p.D1453Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D1434Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D1434Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1434						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)			TATGTCCCAGGATGACCATGG	0.507000										HNSCC(33;0.089)			50	20					3.39706e-21	5.77085e-21	0.003610	1	0
NPAP1	23742	broad.mit.edu	37	15	24924112	24924112	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr15:24924112C>G	ENST00000329468.2	+	1	3572	c.3098C>G	c.(3097-3099)tCa>tGa	p.S1033*		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		AGTTCCACATCAGGAGAACTC	0.547000													15	30					0	0	0.003163	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187692726	187692726	+	Silent	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:187692726T>C	ENST00000295131.2	-	9	1926	c.1887A>G	c.(1885-1887)gaA>gaG	p.E629E		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	629					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ATTGAACTCCTTCTATTATTA	0.294000													7	19					0	0	0.003080	0	0
LRP1B	53353	broad.mit.edu	37	2	141243066	141243066	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:141243066C>A	ENST00000389484.3	-	59	10242	c.9271G>T	c.(9271-9273)Gca>Tca	p.A3091S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3091					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)		ACAGCAAGTGCATTGGGGACC	0.368000										TSP Lung(27;0.18)			14	28					2.23348e-06	2.64553e-06	0.004007	1	0
SPATA31E1	286234	broad.mit.edu	37	9	90502201	90502201	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr9:90502201C>A	ENST00000325643.5	+	4	2865	c.2799C>A	c.(2797-2799)ccC>ccA	p.P933P		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		TCCAGAGGCCCCCGAGAGGGT	0.622000													25	12					2.48779e-11	3.37822e-11	0.005443	1	0
TTN	7273	broad.mit.edu	37	2	179611185	179611185	+	Silent	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:179611185A>T	ENST00000360870.5	-	46	16164	c.15942T>A	c.(15940-15942)gtT>gtA	p.V5314V	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8826	Ig-like 33.						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)			CACTTAATTCAACTTCCAGGA	0.393000													17	35					0	0	0.004990	0	0
LRP2	4036	broad.mit.edu	37	2	170038695	170038695	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:170038695G>T	ENST00000263816.3	-	51	10265	c.9980C>A	c.(9979-9981)gCc>gAc	p.A3327D	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3327					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)	AGGGTGAAGGGCAAGTCCTCT	0.507000													18	57					1.99824e-07	2.45997e-07	0.004990	1	0
R3HDML	140902	broad.mit.edu	37	20	42979383	42979383	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr20:42979383G>A	ENST00000217043.2	+	5	885	c.713G>A	c.(712-714)aGc>aAc	p.S238N	RP5-881L22.5_ENST00000438702.1_RNA|RP5-881L22.5_ENST00000430481.1_RNA	NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	238						extracellular region	peptidase inhibitor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			AGCTGCAATAGCAACATGTGC	0.552000													31	74					0	0	0.012213	0	0
NRXN1	9378	broad.mit.edu	37	2	50699460	50699460	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:50699460C>A	ENST00000404971.1	-	17	4679	c.3340G>T	c.(3340-3342)Gga>Tga	p.G1114*	NRXN1_ENST00000406859.3_Nonsense_Mutation_p.G1074*|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Nonsense_Mutation_p.G1074*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.G1066*|NRXN1_ENST00000401710.1_Nonsense_Mutation_p.G83*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.G1066*|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.G1074*	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1074	EGF-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.G1115R(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCGATCTGTCCGTTGCAGAAA	0.433000													6	26					0.00116845	0.00124079	0.001168	1	0
SALL3	27164	broad.mit.edu	37	18	76754795	76754795	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr18:76754795C>A	ENST00000536229.3	+	1	3114	c.2405C>A	c.(2404-2406)aCc>aAc	p.T802N	SALL3_ENST00000537592.2_Missense_Mutation_p.T935N|SALL3_ENST00000575389.2_Missense_Mutation_p.T935N			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	969				DDDMDE -> NDNLDK (in Ref. 2; CAB65124).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCGCTCAAGACCGAGAGGCCG	0.741000													8	1					5.18039e-06	6.04459e-06	0.003080	1	0
LSAMP	4045	broad.mit.edu	37	3	115560705	115560705	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:115560705G>T	ENST00000490035.1	-	6	1405	c.906C>A	c.(904-906)agC>agA	p.S302R	LSAMP_ENST00000539563.1_Missense_Mutation_p.S299R	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	302	Ig-like C2-type 3.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		AAAGGACTAGGCTGGCATTGG	0.493000													27	63					2.65835e-16	4.17597e-16	0.007291	1	0
MYH7	4625	broad.mit.edu	37	14	23887530	23887530	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr14:23887530G>T	ENST00000355349.3	-	30	4220	c.4058C>A	c.(4057-4059)gCc>gAc	p.A1353D		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1353					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTCGGCCTTGGCCTCCGTCTC	0.672000													18	46					1.99824e-07	2.45997e-07	0.004990	1	0
CEP350	9857	broad.mit.edu	37	1	179982981	179982981	+	Splice_Site	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:179982981G>C	ENST00000367607.3	+	10	1811		c.e10-1			NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa							centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ATACTTTGCAGGGGGTCACAT	0.358000													7	44					0	0	0.003080	0	0
ADARB2	105	broad.mit.edu	37	10	1262988	1262988	+	Missense_Mutation	SNP	T	T	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:1262988T>G	ENST00000381312.1	-	7	1910	c.1585A>C	c.(1585-1587)Acg>Ccg	p.T529P	ADARB2_ENST00000469464.1_5'UTR	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	529	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		ACGGGGACCGTCCCTTCCCCG	0.652000													5	2					0	0	0.000602	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113672953	113672953	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:113672953A>T	ENST00000330212.3	+	3	867	c.568A>T	c.(568-570)Aag>Tag	p.K190*	ZDHHC23_ENST00000498275.1_Nonsense_Mutation_p.K184*	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	190						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						CAGAGCCAAGAAGAATCCAGG	0.557000													26	156					0	0	0.004656	0	0
TTN	7273	broad.mit.edu	37	2	179588868	179588868	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:179588868G>T	ENST00000589042.1	-	73	21342	c.21118C>A	c.(21118-21120)Cga>Aga	p.R7040R	TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Silent_p.R5796R|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.R6723R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6723	Ig-like 52.						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)			GGAACTGCTCGGTCTGTGTGA	0.413000													13	17					1.49906e-05	1.70931e-05	0.002450	1	0
PPAN	56342	broad.mit.edu	37	19	10221814	10221814	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:10221814G>T	ENST00000253107.7	+	12	1501	c.1395G>T	c.(1393-1395)cgG>cgT	p.R465R	PPAN_ENST00000393793.1_Silent_p.R412R|PPAN_ENST00000556468.1_Intron|PPAN-P2RY11_ENST00000428358.1_Intron|PPAN-P2RY11_ENST00000393796.4_Intron	NM_020230.5	NP_064615.3			peter pan homolog (Drosophila)											endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GCCGGGGCCGGGGCCGCCCAG	0.701000													9	1					7.48243e-07	9.04247e-07	0.006214	1	0
EPRS	2058	broad.mit.edu	37	1	220151953	220151953	+	Missense_Mutation	SNP	G	G	A	rs143796513		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:220151953G>A	ENST00000366923.3	-	28	4287	c.4018C>T	c.(4018-4020)Cgc>Tgc	p.R1340C		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1340	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	GCTCTAACGCGGATGTTAACA	0.393000													21	15					0	0	0.010504	0	0
IFT43	112752	broad.mit.edu	37	14	76549611	76549611	+	Silent	SNP	G	G	T	rs143729954		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr14:76549611G>T	ENST00000314067.6	+	8	520	c.486G>T	c.(484-486)gcG>gcT	p.A162A	IFT43_ENST00000238628.6_Silent_p.A167A	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43 homolog (Chlamydomonas)	162					cilium morphogenesis|intraflagellar retrograde transport					endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						AAGTGCTCGCGCCGGAGCACG	0.582000													5	26					0.000602214	0.000646077	0.000602	1	0
LCLAT1	253558	broad.mit.edu	37	2	30785036	30785036	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:30785036A>T	ENST00000309052.4	+	5	712	c.503A>T	c.(502-504)tAt>tTt	p.Y168F	LCLAT1_ENST00000540623.1_Missense_Mutation_p.Y130F|LCLAT1_ENST00000359433.1_Missense_Mutation_p.Y168F|LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000379509.3_Missense_Mutation_p.Y130F|LCLAT1_ENST00000319406.4_Missense_Mutation_p.Y168F	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	168					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						GCTGCTGCCTATATCTTCATT	0.333000													14	18					0	0	0.002450	0	0
GPD2	2820	broad.mit.edu	37	2	157427724	157427724	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:157427724G>T	ENST00000310454.6	+	13	2059	c.1687G>T	c.(1687-1689)Gtc>Ttc	p.V563F	GPD2_ENST00000438166.2_Missense_Mutation_p.V563F|GPD2_ENST00000409125.4_Missense_Mutation_p.V336F|GPD2_ENST00000409674.1_Missense_Mutation_p.V563F|GPD2_ENST00000540309.1_Intron	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	563					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						CTTTCTAAATGTCCAGGCAGC	0.423000													21	75					0.000375601	0.00040609	0.002780	1	0
GATA3	2625	broad.mit.edu	37	10	8100408	8100408	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:8100408G>T	ENST00000379328.3	+	3	950	c.382G>T	c.(382-384)Ggg>Tgg	p.G128W	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Missense_Mutation_p.G128W	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	128					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CGGCTCCCCGGGGCCCCTCTC	0.716000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						19	11					8.28177e-16	1.28168e-15	0.007413	1	0
NAV2	89797	broad.mit.edu	37	11	20066722	20066722	+	Silent	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:20066722A>T	ENST00000396085.1	+	14	3769	c.3408A>T	c.(3406-3408)acA>acT	p.T1136T	NAV2_ENST00000360655.4_Silent_p.T1072T|NAV2_ENST00000349880.4_Silent_p.T1136T|NAV2_ENST00000540292.1_Silent_p.T1090T|NAV2_ENST00000311043.8_Silent_p.T222T|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000527559.2_Silent_p.T1088T|NAV2_ENST00000396087.3_Silent_p.T1159T|NAV2_ENST00000533917.1_Silent_p.T222T	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1159						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCATGATCACAGCCAGCGGGG	0.582000													15	42					0	0	0.004007	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65208183	65208183	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr14:65208183G>T	ENST00000247226.7	+	14	2088	c.1780G>T	c.(1780-1782)Ggc>Tgc	p.G594C	PLEKHG3_ENST00000394691.1_Missense_Mutation_p.G650C|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.G155C|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.G183C	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	650					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CAGCGAGAAGGGCCTGGCCCG	0.662000													11	42					3.86212e-05	4.32502e-05	0.008291	1	0
ADAD1	132612	broad.mit.edu	37	4	123350835	123350835	+	Missense_Mutation	SNP	C	C	A	rs55924141		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:123350835C>A	ENST00000296513.2	+	13	1857	c.1672C>A	c.(1672-1674)Caa>Aaa	p.Q558K	ADAD1_ENST00000388724.2_Missense_Mutation_p.Q547K|ADAD1_ENST00000388725.2_Missense_Mutation_p.Q540K	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	558	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTACTTACAACAACATGGCTA	0.333000													33	6					2.09667e-21	3.5861e-21	0.003755	1	0
HOXD10	3236	broad.mit.edu	37	2	176981685	176981685	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:176981685G>T	ENST00000249501.4	+	1	379	c.124G>T	c.(124-126)Gac>Tac	p.D42Y	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	42						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		ACCTAGCGCAGACATGGGGAC	0.468000													25	97					2.24059e-21	3.81663e-21	0.006320	1	0
ANO4	121601	broad.mit.edu	37	12	101488070	101488070	+	Splice_Site	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:101488070G>C	ENST00000392979.3	+	17	1994	c.1633_splice	c.e17+1	p.E545_splice	ANO4_ENST00000299222.9_Splice_Site_p.E100_splice|ANO4_ENST00000392977.3_Splice_Site_p.E580_splice|ANO4_ENST00000550015.1_Splice_Site_p.E100_splice	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	580						chloride channel complex	chloride channel activity	p.E545*(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GACGAATTTAGGTGAGTGGAA	0.338000										HNSCC(74;0.22)			14	29					0	0	0.003163	0	0
MEGF10	84466	broad.mit.edu	37	5	126738321	126738321	+	Silent	SNP	G	G	T	rs139531628		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:126738321G>T	ENST00000274473.6	+	9	1131	c.864G>T	c.(862-864)acG>acT	p.T288T	MEGF10_ENST00000418761.2_Silent_p.T288T|MEGF10_ENST00000503335.2_Silent_p.T288T|MEGF10_ENST00000508365.1_Silent_p.T288T	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	288	EGF-like 5.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ATGGAGGGACGTGTGATGCTG	0.502000													28	14					2.12542e-12	2.98991e-12	0.006320	1	0
ZFAT	57623	broad.mit.edu	37	8	135614601	135614601	+	Missense_Mutation	SNP	T	T	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:135614601T>G	ENST00000520727.1	-	7	1624	c.1325A>C	c.(1324-1326)cAc>cCc	p.H442P	ZFAT_ENST00000429442.2_Missense_Mutation_p.H442P|ZFAT_ENST00000523399.1_Missense_Mutation_p.H392P|ZFAT_ENST00000520214.1_Missense_Mutation_p.H442P|ZFAT_ENST00000377838.3_Missense_Mutation_p.H454P|ZFAT_ENST00000520356.1_Missense_Mutation_p.H442P	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CACGAAGGGGTGCTTCCTGAC	0.617000													71	18					0	0	0.003610	0	0
CHERP	10523	broad.mit.edu	37	19	16641581	16641581	+	Splice_Site	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:16641581C>A	ENST00000546361.2	-	6	936	c.786_splice	c.e6+1	p.R262_splice	CHERP_ENST00000198939.6_Splice_Site_p.R273_splice|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	262	CID.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						CCCACGCACCCGGGCGATCTT	0.692000													24	9					2.70639e-06	3.19661e-06	0.002299	1	0
STK4	6789	broad.mit.edu	37	20	43629116	43629116	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr20:43629116G>C	ENST00000372806.3	+	8	1010	c.915G>C	c.(913-915)caG>caC	p.Q305H	STK4_ENST00000499879.2_Missense_Mutation_p.Q250H|STK4_ENST00000396731.4_Missense_Mutation_p.Q305H|STK4_ENST00000372801.1_Missense_Mutation_p.Q305H	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	305					apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				TGAAACGCCAGGAATCCCAGC	0.463000													3	17					0	0	0.004672	0	0
CEP350	9857	broad.mit.edu	37	1	179982980	179982980	+	Splice_Site	SNP	A	A	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:179982980A>C	ENST00000367607.3	+	10	1811		c.e10-1			NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa							centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CATACTTTGCAGGGGGTCACA	0.358000													7	44					0	0	0.003080	0	0
KIAA1551	55196	broad.mit.edu	37	12	32138088	32138088	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:32138088G>A	ENST00000312561.4	+	4	4613	c.4199G>A	c.(4198-4200)aGt>aAt	p.S1400N	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		CAGAAAGGAAGTGTGGGAGCT	0.348000													25	10					0	0	0.003330	0	0
USP30	84749	broad.mit.edu	37	12	109520514	109520514	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:109520514G>T	ENST00000257548.5	+	10	1007	c.914G>T	c.(913-915)aGg>aTg	p.R305M	USP30_ENST00000392784.2_Missense_Mutation_p.R274M	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	305					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						GAACACCAGAGGACCACTTTT	0.458000													7	32					5.4927e-09	7.02438e-09	0.004482	1	0
ENPP1	5167	broad.mit.edu	37	6	132173314	132173314	+	Splice_Site	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:132173314G>A	ENST00000360971.2	+	5	576		c.e5-1			NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	AAATATTTTAGGTGAGAAAAG	0.318000													12	10					0	0	0.001855	0	0
VPS51	738	broad.mit.edu	37	11	64878981	64878981	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:64878981G>A	ENST00000279281.3	+	10	2363	c.2271G>A	c.(2269-2271)gtG>gtA	p.V757V	AP003068.9_ENST00000528887.1_RNA|VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2			vacuolar protein sorting 51 homolog (S. cerevisiae)																		ACGAAGTGGTGGCCTCTGCTG	0.642000													10	33					0	0	0.008291	0	0
ZNF724P	440519	broad.mit.edu	37	19	23414142	23414142	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:23414142T>A	ENST00000418100.1	-	3	269	c.152A>T	c.(151-153)gAc>gTc	p.D51V	ZNF724P_ENST00000597037.1_Missense_Mutation_p.D51V																endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						GGTGATCAGGTCTGGCTTAGA	0.398000													23	117					0	0	0.003330	0	0
MAP3K9	4293	broad.mit.edu	37	14	71205044	71205044	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr14:71205044C>A	ENST00000554752.2	-	8	1761	c.1762G>T	c.(1762-1764)Gag>Tag	p.E588*	MAP3K9_ENST00000555993.2_Nonsense_Mutation_p.E588*|MAP3K9_ENST00000381250.4_Nonsense_Mutation_p.E588*|MAP3K9_ENST00000553414.1_Nonsense_Mutation_p.E330*|MAP3K9_ENST00000554146.1_Nonsense_Mutation_p.E325*			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	588					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCCTCTTCTCCTCCTCCTCC	0.572000													16	53					8.60227e-14	1.26113e-13	0.004007	1	0
XIRP2	129446	broad.mit.edu	37	2	168100000	168100000	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:168100000C>A	ENST00000409195.1	+	9	2187	c.2098C>A	c.(2098-2100)Cat>Aat	p.H700N	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.H700N|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.H478N|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	525					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						TGAAACTCAACATCTAGATCA	0.383000													9	32					3.09899e-07	3.80385e-07	0.004482	1	0
CSMD3	114788	broad.mit.edu	37	8	113256691	113256691	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:113256691G>T	ENST00000297405.5	-	65	10578	c.10334C>A	c.(10333-10335)gCa>gAa	p.A3445E	CSMD3_ENST00000352409.3_Missense_Mutation_p.A3375E|CSMD3_ENST00000455883.2_Missense_Mutation_p.A3276E|CSMD3_ENST00000343508.3_Missense_Mutation_p.A3405E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3445	Sushi 28.					integral to membrane|plasma membrane		p.A3445V(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						TGTTCCACCTGCTAAGAAGAA	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			29	80					5.91797e-21	1.00397e-20	0.012213	1	0
MRGPRD	116512	broad.mit.edu	37	11	68748244	68748244	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:68748244G>T	ENST00000309106.3	-	1	211	c.212C>A	c.(211-213)gCc>gAc	p.A71D		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	71						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GAGGAGGTCGGCTGCCGCCAG	0.577000													33	35					3.90053e-15	5.91218e-15	0.012213	1	0
VIL1	7429	broad.mit.edu	37	2	219297606	219297606	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:219297606C>A	ENST00000248444.5	+	13	1520	c.1432C>A	c.(1432-1434)Cgg>Agg	p.R478R	VIL1_ENST00000392114.2_Silent_p.R167R	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	478	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGTCCAGATCCGGGTCCCAAT	0.542000													12	34					0.00185496	0.00196481	0.001855	1	0
SLC14A1	6563	broad.mit.edu	37	18	43319536	43319536	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr18:43319536C>G	ENST00000589700.1	+	5	707	c.707C>G	c.(706-708)tCt>tGt	p.S236C	SLC14A1_ENST00000586142.1_Silent_p.L285L|SLC14A1_ENST00000415427.3_Silent_p.L341L|SLC14A1_ENST00000591541.1_5'UTR|SLC14A1_ENST00000502059.2_Silent_p.L177L|SLC14A1_ENST00000402943.2_Silent_p.L180L|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000321925.4_Silent_p.L285L|SLC14A1_ENST00000436407.3_Silent_p.L341L|SLC14A1_ENST00000535474.1_Silent_p.L153L|RP11-116O18.3_ENST00000586213.1_RNA			Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	0						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						ACTTTGGACTCTGGGGTTTCA	0.527000													37	45					0	0	0.003271	0	0
BCO2	83875	broad.mit.edu	37	11	112071445	112071445	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:112071445G>C	ENST00000357685.5	+	7	1110	c.975G>C	c.(973-975)tgG>tgC	p.W325C	BCO2_ENST00000532593.1_Missense_Mutation_p.W220C|BCO2_ENST00000438022.1_Missense_Mutation_p.W291C|BCO2_ENST00000393032.2_Missense_Mutation_p.W291C|BCO2_ENST00000526088.1_Missense_Mutation_p.W291C|BCO2_ENST00000361053.4_Missense_Mutation_p.W252C|BCO2_ENST00000531169.1_Missense_Mutation_p.W291C			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	325					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						GGATAAGCTGGGAACCCCAGT	0.398000													37	32					0	0	0.007835	0	0
CPS1	1373	broad.mit.edu	37	2	211502455	211502455	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:211502455G>T	ENST00000233072.5	+	22	2913	c.2717G>T	c.(2716-2718)aGg>aTg	p.R906M	CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000451903.2_Missense_Mutation_p.R455M|CPS1_ENST00000430249.2_Missense_Mutation_p.R912M	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	906					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)		ACCCTGAAAAGGGCAAAGGAG	0.408000													15	29					1.15088e-07	1.42241e-07	0.004007	1	0
SSPO	23145	broad.mit.edu	37	7	149531024	149531024	+	RNA	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:149531024C>A	ENST00000378016.2	+	0	15553							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACTGGGGGCCCATGACTTGGC	0.582000													6	12					5.9392e-07	7.22632e-07	0.001168	1	0
ZC3H13	23091	broad.mit.edu	37	13	46584576	46584576	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr13:46584576G>C	ENST00000242848.4	-	7	1001	c.653C>G	c.(652-654)tCt>tGt	p.S218C	ZC3H13_ENST00000282007.3_Missense_Mutation_p.S218C|ZC3H13_ENST00000470308.1_5'UTR			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	218	Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCGCTTCGGAGATTTGCTAGA	0.423000													44	6					0	0	0.011902	0	0
SEC24B	10427	broad.mit.edu	37	4	110433128	110433128	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:110433128A>G	ENST00000265175.5	+	9	1847	c.1792A>G	c.(1792-1794)Aca>Gca	p.T598A	SEC24B_ENST00000504968.2_Missense_Mutation_p.T628A|SEC24B_ENST00000399100.2_Missense_Mutation_p.T563A	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	598					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)		ACCAGTGATAACATCAAATAC	0.388000													16	19					0	0	0.004990	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643060	1643060	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:1643060C>T	ENST00000399682.1	-	1	308	c.264G>A	c.(262-264)aaG>aaA	p.K88K		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	88	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CACAGCCCCCCTTGGAACCCC	0.672000													27	85					0	0	0.005443	0	0
ADCY2	108	broad.mit.edu	37	5	7802380	7802380	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:7802380T>C	ENST00000338316.4	+	21	2767	c.2678T>C	c.(2677-2679)aTt>aCt	p.I893T	ADCY2_ENST00000537121.1_Missense_Mutation_p.I713T	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	893					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						TTTGCCTCCATTCCGGATTTC	0.468000													14	81					0	0	0.001855	0	0
TDRD7	23424	broad.mit.edu	37	9	100194369	100194369	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr9:100194369C>A	ENST00000355295.4	+	4	707	c.412C>A	c.(412-414)Cct>Act	p.P138T	TDRD7_ENST00000422139.2_Missense_Mutation_p.P64T	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	138					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				TGGCAAAAAACCTAATCCAGC	0.388000													27	48					2.44723e-14	3.63456e-14	0.004656	1	0
CLRN2	645104	broad.mit.edu	37	4	17516915	17516915	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:17516915G>T	ENST00000511148.2	+	1	128	c.26G>T	c.(25-27)tGg>tTg	p.W9L		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	9						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						AAAAAGGCGTGGTATGGGCTG	0.537000													7	36					0.000157383	0.000171941	0.003080	1	0
MDM2	4193	broad.mit.edu	37	12	69210673	69210673	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:69210673G>T	ENST00000462284.1	+	4	558	c.256G>T	c.(256-258)Gat>Tat	p.D86Y	MDM2_ENST00000428863.2_Intron|MDM2_ENST00000350057.5_Missense_Mutation_p.D55Y|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000299252.4_Intron|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.D86Y|MDM2_ENST00000258149.5_Missense_Mutation_p.D80Y	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	80	Necessary for interaction with USP2.|SWIB.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TTGTTCAAATGATCTTCTAGG	0.338000			A		"""sarcoma, glioma, colorectal, other"""								20	22					1.55795e-14	2.32485e-14	0.012319	1	0
PDZRN3	23024	broad.mit.edu	37	3	73433800	73433800	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:73433800C>T	ENST00000263666.4	-	10	2031	c.1917G>A	c.(1915-1917)ccG>ccA	p.P639P	PDZRN3_ENST00000462146.2_Silent_p.P296P|PDZRN3_ENST00000466780.1_Silent_p.P296P|PDZRN3_ENST00000535920.1_Silent_p.P361P|PDZRN3_ENST00000479530.1_Silent_p.P356P	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	639							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		ACTCGTCCACCGGGATCCCCA	0.657000													50	110					0	0	0.003610	0	0
PELP1	27043	broad.mit.edu	37	17	4594689	4594689	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:4594689T>A	ENST00000301396.4	-	2	523	c.298A>T	c.(298-300)Agt>Tgt	p.S100C	PELP1_ENST00000572293.1_Missense_Mutation_p.S150C|PELP1_ENST00000570823.1_5'UTR|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000436683.2_5'UTR|PELP1_ENST00000269230.7_Missense_Mutation_p.S100C|PELP1_ENST00000574876.1_Missense_Mutation_p.S100C			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	100					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						TTGATGGAACTGAGACGTGCA	0.463000													54	10					0	0	0.003610	0	0
SLC7A13	157724	broad.mit.edu	37	8	87229998	87229998	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:87229998C>A	ENST00000297524.3	-	3	983	c.880G>T	c.(880-882)Gct>Tct	p.A294S	SLC7A13_ENST00000419776.2_Missense_Mutation_p.A285S|SLC7A13_ENST00000520624.1_5'UTR	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	294						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GTAGAAATAGCAAAAGGCATA	0.373000													45	144					1.76056e-25	3.1579e-25	0.011902	1	0
GTF3C1	2975	broad.mit.edu	37	16	27509014	27509014	+	Missense_Mutation	SNP	T	T	A	rs146349254	byFrequency	TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr16:27509014T>A	ENST00000356183.4	-	14	2309	c.2294A>T	c.(2293-2295)aAa>aTa	p.K765I	GTF3C1_ENST00000561623.1_Missense_Mutation_p.K765I	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	765						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ATCACTTTTTTTCATCCGTCC	0.443000													16	55					0	0	0.004007	0	0
KEL	3792	broad.mit.edu	37	7	142640966	142640966	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:142640966T>A	ENST00000355265.2	-	14	1970	c.1496A>T	c.(1495-1497)cAg>cTg	p.Q499L		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	499					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CGATCCAAGCTGTATCTGGGG	0.542000													12	9					0	0	0.001855	0	0
CYP26C1	340665	broad.mit.edu	37	10	94828077	94828077	+	Splice_Site	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:94828077G>T	ENST00000285949.5	+	6	1192	c.1191_splice	c.e6-1	p.G398_splice		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	398					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				CTCTCTGCAGGGCTACCAGAT	0.632000													14	54					1.5739e-10	2.08963e-10	0.004007	1	0
GOLGA6A	342096	broad.mit.edu	37	15	74368284	74368284	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr15:74368284G>T	ENST00000290438.3	-	8	647	c.607C>A	c.(607-609)Cag>Aag	p.Q203K		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	203										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						TTTATGGTCTGCTGTAACCAC	0.577000													16	126					0.00400662	0.00422959	0.004007	1	0
MKL2	57496	broad.mit.edu	37	16	14352005	14352005	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr16:14352005C>A	ENST00000571589.1	+	16	2923	c.2751C>A	c.(2749-2751)ctC>ctA	p.L917L	MKL2_ENST00000341243.5_Silent_p.L906L|MKL2_ENST00000318282.5_Silent_p.L867L|MKL2_ENST00000574045.1_Silent_p.L867L	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	906					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTGATATCCTCATTAAGAGTG	0.393000													9	25					0.000274275	0.000296796	0.004482	1	0
TMTC2	160335	broad.mit.edu	37	12	83290354	83290354	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:83290354C>T	ENST00000549919.1	+	4	3199	c.1394C>T	c.(1393-1395)gCg>gTg	p.A465V	TMTC2_ENST00000321196.3_Missense_Mutation_p.A471V|TMTC2_ENST00000548305.1_Missense_Mutation_p.A471V			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	471						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CTCAAGACTGCGATCAGGAAT	0.388000													13	30					0	0	0.001368	0	0
PAX5	5079	broad.mit.edu	37	9	36882063	36882063	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr9:36882063G>T	ENST00000358127.4	-	8	1024	c.950C>A	c.(949-951)cCa>cAa	p.P317Q	PAX5_ENST00000522003.1_Missense_Mutation_p.P209Q|PAX5_ENST00000377852.2_Intron|PAX5_ENST00000520281.1_Missense_Mutation_p.P274Q|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000414447.1_Missense_Mutation_p.P274Q|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000377853.2_Missense_Mutation_p.P317Q|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000523145.1_Intron	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	317					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(22)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GGGGACGTGTGGAGGGTACCC	0.637000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								8	21					3.07112e-06	3.60698e-06	0.010729	1	0
MRPS28	28957	broad.mit.edu	37	8	80831369	80831369	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:80831369C>A	ENST00000276585.4	-	3	432	c.410G>T	c.(409-411)gGa>gTa	p.G137V	MRPS28_ENST00000521434.1_Missense_Mutation_p.G75V|MRPS28_ENST00000521605.1_Missense_Mutation_p.R76S	NM_014018.2	NP_054737.1	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S28	137						mitochondrial small ribosomal subunit				endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5	Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805)			GACCCTGGTTCCTTTCTGGTA	0.353000													70	23					1.15062e-32	2.16628e-32	0.003610	1	0
GMIP	51291	broad.mit.edu	37	19	19745413	19745413	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:19745413G>A	ENST00000203556.4	-	18	2124	c.1987C>T	c.(1987-1989)Ccc>Tcc	p.P663S	GMIP_ENST00000445806.2_Missense_Mutation_p.P634S|GMIP_ENST00000587238.1_Missense_Mutation_p.P637S|GMIP_ENST00000586269.1_Intron	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	663	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCAGGGCTGGGGCTGGGGGTC	0.617000													109	38					0	0	0.003610	0	0
TP53BP2	7159	broad.mit.edu	37	1	223985993	223985993	+	Silent	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:223985993C>G	ENST00000391878.2	-	13	2253	c.1485G>C	c.(1483-1485)gcG>gcC	p.A495A	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_Intron|TP53BP2_ENST00000343537.7_Silent_p.A624A	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	618					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TTTTTCCTGGCGCCTGCTGTT	0.493000													53	21					0	0	0.003610	0	0
RASGRP2	10235	broad.mit.edu	37	11	64497271	64497271	+	Splice_Site	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:64497271C>A	ENST00000377494.1	-	13	2477		c.e13-1		RASGRP2_ENST00000394432.3_Splice_Site|RASGRP2_ENST00000354024.3_Splice_Site|RASGRP2_ENST00000377497.3_Splice_Site			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)						platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGCCCAGGATCTGCAATAGAG	0.517000													20	53					1.56452e-12	2.20832e-12	0.007413	1	0
DSCAM	1826	broad.mit.edu	37	21	41385052	41385052	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr21:41385052G>A	ENST00000400454.1	-	33	6425	c.5948C>T	c.(5947-5949)gCt>gTt	p.A1983V		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1983				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCTCATTTTAGCTGCCTGTCC	0.582000													9	28					0	0	0.004482	0	0
AVPR1A	552	broad.mit.edu	37	12	63543863	63543863	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:63543863C>A	ENST00000299178.2	-	1	859	c.754G>T	c.(754-756)Gcg>Tcg	p.A252S		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	252					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	TGGCGCGACGCCGTCTTCCCG	0.622000													51	72					3.93605e-18	6.39992e-18	0.003610	1	0
FGD6	55785	broad.mit.edu	37	12	95498862	95498862	+	Splice_Site	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:95498862C>G	ENST00000343958.4	-	14	3641	c.3417_splice	c.e14-1	p.V1140_splice	FGD6_ENST00000546711.1_Splice_Site_p.V1140_splice|FGD6_ENST00000549499.1_Splice_Site_p.V1140_splice	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1140	PH 1.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GGTTTTCTGACCTGGAAGAAA	0.408000													18	65					0	0	0.008871	0	0
ZNF423	23090	broad.mit.edu	37	16	49672753	49672753	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr16:49672753C>G	ENST00000561648.1	-	4	363	c.310G>C	c.(310-312)Gcc>Ccc	p.A104P	ZNF423_ENST00000563137.2_Missense_Mutation_p.A44P|ZNF423_ENST00000562520.1_Missense_Mutation_p.A44P|ZNF423_ENST00000567169.1_5'UTR|ZNF423_ENST00000535559.1_5'UTR|ZNF423_ENST00000562871.1_Missense_Mutation_p.A44P|ZNF423_ENST00000262383.2_Missense_Mutation_p.A104P	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	104					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)				GGAGACGAGGCCACCCAGGAG	0.602000													10	5					0	0	0.010729	0	0
KLF17	128209	broad.mit.edu	37	1	44584645	44584645	+	Silent	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:44584645G>C	ENST00000372299.3	+	1	124	c.66G>C	c.(64-66)gcG>gcC	p.A22A	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	22					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.A22A(2)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					GGCAGGCGGCGCACCAGGCTG	0.697000													13	12					0	0	0.001855	0	0
DRC1	92749	broad.mit.edu	37	2	26676226	26676226	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:26676226C>A	ENST00000288710.2	+	14	1802	c.1728C>A	c.(1726-1728)agC>agA	p.S576R		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		AGAAGGCGAGCATGGAGGAGA	0.562000													44	48					2.13384e-23	3.74169e-23	0.003610	1	0
ATP10B	23120	broad.mit.edu	37	5	160059308	160059308	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:160059308A>T	ENST00000327245.5	-	13	2294	c.1448T>A	c.(1447-1449)cTg>cAg	p.L483Q	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	483					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGAGAAGGACAGGCATTGGTA	0.552000													15	33					0	0	0.002450	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306276	2306276	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:2306276G>T	ENST00000290974.2	-	8	2130	c.1791C>A	c.(1789-1791)gcC>gcA	p.A597A	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Silent_p.A567A|ZFYVE28_ENST00000515312.1_Silent_p.A527A	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	597					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						TGGCTAAGCCGGCAGCGTACG	0.687000													20	11					5.03518e-11	6.78584e-11	0.007413	1	0
LINC00521	256369	broad.mit.edu	37	14	94467751	94467751	+	RNA	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr14:94467751G>C	ENST00000444118.1	+	0	829					NR_024182.1																						CATAGCCCTGGGGAAGGCCTA	0.662000													4	1					0	0	0.009096	0	0
SIRPB1	10326	broad.mit.edu	37	20	1592250	1592250	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr20:1592250C>A	ENST00000279477.7	-	2	250	c.186G>T	c.(184-186)gtG>gtT	p.V62V	SIRPB1_ENST00000568365.1_Silent_p.V62V|SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381596.1_5'UTR|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	62	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGATGGGCCCCACAGGGATCA	0.547000													31	61					1.08312e-15	1.66389e-15	0.009535	1	0
VPS13B	157680	broad.mit.edu	37	8	100883035	100883035	+	Silent	SNP	T	T	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:100883035T>G	ENST00000358544.2	+	60	11601	c.11490T>G	c.(11488-11490)ctT>ctG	p.L3830L	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.L3805L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3830					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GAGCTGGACTTTCTCAGCTTC	0.418000													17	97					0	0	0.004990	0	0
PLXNA4	91584	broad.mit.edu	37	7	131870220	131870220	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:131870220C>T	ENST00000359827.3	-	16	3958	c.2996G>A	c.(2995-2997)cGa>cAa	p.R999Q	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R999Q			Q9HCM2	PLXA4_HUMAN	plexin A4	999	IPT/TIG 2.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGATGGAGATCGCCTGGAGGG	0.592000													30	28					0	0	0.009535	0	0
POFUT2	23275	broad.mit.edu	37	21	46703297	46703297	+	Splice_Site	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr21:46703297C>A	ENST00000331343.7	-	3	554		c.e3+1		POFUT2_ENST00000471540.1_Splice_Site|POFUT2_ENST00000349485.5_Splice_Site	NM_015227.4	NP_056042.1	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2						fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		TCAGCAGGCACCTGTAGTACT	0.687000													42	57					2.66277e-13	3.80569e-13	0.006999	1	0
TMEM71	137835	broad.mit.edu	37	8	133764037	133764037	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:133764037A>G	ENST00000356838.3	-	4	450	c.308T>C	c.(307-309)tTa>tCa	p.L103S	TMEM71_ENST00000523829.1_Missense_Mutation_p.L103S|TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Missense_Mutation_p.L103S	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	103						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TTACCTAACTAAGTTCTCCTT	0.368000													16	99					0	0	0.003163	0	0
CPA3	1359	broad.mit.edu	37	3	148583101	148583101	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:148583101C>A	ENST00000296046.3	+	1	59	c.7C>A	c.(7-9)Ctc>Atc	p.L3I	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	3					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AACCATGAGGCTCATCCTGCC	0.483000													21	43					1.10513e-12	1.56342e-12	0.002299	1	0
LRRC66	339977	broad.mit.edu	37	4	52861699	52861699	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:52861699C>G	ENST00000343457.3	-	4	1495	c.1489G>C	c.(1489-1491)Gca>Cca	p.A497P		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	497						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CCACTTCCTGCCCCGGTGTTG	0.547000													44	20					0	0	0.009718	0	0
RTP3	83597	broad.mit.edu	37	3	46539704	46539704	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:46539704C>A	ENST00000296142.3	+	1	724	c.152C>A	c.(151-153)gCc>gAc	p.A51D		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	51					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TGGACCTTCGCCAGGTGAGGG	0.493000													35	11					3.3946e-10	4.4879e-10	0.005524	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144866593	144866593	+	Splice_Site	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:144866593C>T	ENST00000369359.4	-	37	6095	c.6058_splice	c.e37+1	p.R2019_splice	PDE4DIP_ENST00000530740.1_Splice_Site_p.R1968_splice|PDE4DIP_ENST00000313382.9_Splice_Site_p.R1777_splice|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Splice_Site_p.R1883_splice|PDE4DIP_ENST00000369356.4_Splice_Site_p.R1883_splice			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1883					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCTCCTACCCCTTCCACGAG	0.527000			T	PDGFRB	MPD								37	201					0	0	0.006230	0	0
POTEC	388468	broad.mit.edu	37	18	14533109	14533109	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr18:14533109G>T	ENST00000358970.5	-	5	1005	c.1006C>A	c.(1006-1008)Cta>Ata	p.L336I	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	336										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGTCCAGATAGATCTTGAGAA	0.368000													23	64					3.69857e-22	6.38704e-22	0.008361	1	0
ASXL3	80816	broad.mit.edu	37	18	31319459	31319459	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr18:31319459C>A	ENST00000269197.5	+	11	2091	c.2091C>A	c.(2089-2091)aaC>aaA	p.N697K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	697	Ser-rich.				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						TTATGTCCAACTTACCATTAA	0.368000													141	115					8.80896e-55	1.74231e-54	0.003610	1	0
GFRAL	389400	broad.mit.edu	37	6	55223723	55223723	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:55223723C>A	ENST00000340465.2	+	6	825	c.739C>A	c.(739-741)Cgt>Agt	p.R247S		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	247						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATGCTGGCAGCGTGTGACTAG	0.378000													46	29					3.86361e-14	5.70428e-14	0.003610	1	0
ASPM	259266	broad.mit.edu	37	1	197104364	197104364	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:197104364T>C	ENST00000367409.4	-	5	2291	c.2035A>G	c.(2035-2037)Aga>Gga	p.R679G	ASPM_ENST00000294732.7_Missense_Mutation_p.R679G	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	679					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATCGGGTGTCTGGGAATATCT	0.338000													8	22					0	0	0.006214	0	0
KIF2B	84643	broad.mit.edu	37	17	51901177	51901177	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:51901177C>T	ENST00000268919.4	+	1	939	c.783C>T	c.(781-783)aaC>aaT	p.N261N		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	261	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACCTGCAGAACCAGACCTTCT	0.542000													10	51					0	0	0.008291	0	0
TFG	10342	broad.mit.edu	37	3	100467004	100467004	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:100467004C>G	ENST00000240851.4	+	8	1172	c.832C>G	c.(832-834)Cag>Gag	p.Q278E	TFG_ENST00000418917.2_Missense_Mutation_p.Q274E|TFG_ENST00000476228.1_Missense_Mutation_p.Q274E|TFG_ENST00000481203.1_3'UTR|TFG_ENST00000490574.1_Missense_Mutation_p.Q278E	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	278					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						AAGCTATAGTCAGCAGACTGG	0.423000			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""								41	60					0	0	0.009718	0	0
GRIA4	2893	broad.mit.edu	37	11	105623799	105623799	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:105623799C>A	ENST00000393127.2	+	4	786	c.340C>A	c.(340-342)Cat>Aat	p.H114N	GRIA4_ENST00000282499.5_Missense_Mutation_p.H114N|GRIA4_ENST00000428631.2_Missense_Mutation_p.H114N|GRIA4_ENST00000525187.1_Missense_Mutation_p.H114N|GRIA4_ENST00000530497.1_Missense_Mutation_p.H114N|GRIA4_ENST00000393125.2_Missense_Mutation_p.H114N	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	114					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	CAGCGCCTTACATATCTCCCT	0.468000													11	48					1.58986e-06	1.89934e-06	0.008291	1	0
ACSM5	54988	broad.mit.edu	37	16	20448627	20448627	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr16:20448627G>A	ENST00000331849.4	+	12	1621	c.1474G>A	c.(1474-1476)Gca>Aca	p.A492T		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	492					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						AAGTGCCCTGGCAGAGCATCC	0.562000													11	71					0	0	0.001855	0	0
C1QB	713	broad.mit.edu	37	1	22987436	22987436	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:22987436C>A	ENST00000509305.1	+	3	659	c.313C>A	c.(313-315)Cca>Aca	p.P105T	C1QB_ENST00000314933.6_Missense_Mutation_p.P107T			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	107	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCCTGGAGCCCCAGGCCCCAA	0.627000													16	56					1.3612e-06	1.62928e-06	0.003163	1	0
SCAPER	49855	broad.mit.edu	37	15	77046201	77046201	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr15:77046201C>A	ENST00000538941.2	-	15	2015	c.1076G>T	c.(1075-1077)cGa>cTa	p.R359L	SCAPER_ENST00000563290.1_Missense_Mutation_p.R605L|SCAPER_ENST00000324767.7_Missense_Mutation_p.R605L	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	604						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CTGCACTTCTCGCTTAAACTC	0.378000													32	81					1.88708e-17	3.02901e-17	0.008361	1	0
CPXM2	119587	broad.mit.edu	37	10	125506516	125506516	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:125506516A>G	ENST00000241305.3	-	14	2189	c.2035T>C	c.(2035-2037)Tgg>Cgg	p.W679R	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	679					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		AGGAGGCGCCAGTAATCCCCA	0.552000													97	100					0	0	0.003610	0	0
DLD	1738	broad.mit.edu	37	7	107546743	107546743	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:107546743G>C	ENST00000205402.5	+	8	895	c.614G>C	c.(613-615)gGt>gCt	p.G205A	DLD_ENST00000537148.1_Missense_Mutation_p.G106A|DLD_ENST00000440410.1_Missense_Mutation_p.G182A|DLD_ENST00000437604.2_Missense_Mutation_p.G157A	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	205					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	TCATCTACAGGTGCTTTATCT	0.333000													5	35					0	0	0.001984	0	0
SERPINA3	12	broad.mit.edu	37	14	95080977	95080977	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr14:95080977A>T	ENST00000553947.1	+	5	1162	c.274A>T	c.(274-276)Aag>Tag	p.K92*	SERPINA3_ENST00000467132.1_Nonsense_Mutation_p.K67*|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393080.4_Nonsense_Mutation_p.K67*|SERPINA3_ENST00000393078.3_Nonsense_Mutation_p.K67*			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	67					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GTTAGTCCTGAAGGCCCCTGA	0.557000													55	35					0	0	0.003610	0	0
RYR3	6263	broad.mit.edu	37	15	34093057	34093057	+	Splice_Site	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr15:34093057A>G	ENST00000389232.4	+	68	9987	c.9918_splice	c.e68+1	p.H3306_splice	RYR3_ENST00000415757.3_Splice_Site_p.H3306_splice	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3306					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)		TGTAAATCTCATGTAAGAACA	0.433000													6	32					0	0	0.001168	0	0
KIAA1432	57589	broad.mit.edu	37	9	5689958	5689958	+	Splice_Site	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr9:5689958G>T	ENST00000414202.2	+	3	443		c.e3-1		KIAA1432_ENST00000381532.2_Splice_Site|KIAA1432_ENST00000251879.6_Splice_Site|KIAA1432_ENST00000449720.2_Splice_Site|KIAA1432_ENST00000418622.3_Splice_Site	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432							integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TTCTCTTTCAGACGGCAAATG	0.294000													12	5					2.27111e-07	2.79041e-07	0.001368	1	0
CPA4	51200	broad.mit.edu	37	7	129962351	129962351	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:129962351C>G	ENST00000222482.4	+	11	1129	c.1101C>G	c.(1099-1101)atC>atG	p.I367M	CPA4_ENST00000445470.2_Missense_Mutation_p.I334M|CPA4_ENST00000493259.1_Missense_Mutation_p.I263M	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	367					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					GGAGCAGCATCGACTGGGCAT	0.527000													15	58					0	0	0.006122	0	0
MDFIC	29969	broad.mit.edu	37	7	114655761	114655761	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:114655761C>T	ENST00000257724.3	+	5	1103	c.840C>T	c.(838-840)atC>atT	p.I280I	MDFIC_ENST00000393486.1_Silent_p.I171I			Q9P1T7	MDFIC_HUMAN	MyoD family inhibitor domain containing	171					activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	cyclin binding|Tat protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						TCCACTGTATCCTGGCTTGCT	0.448000													97	432					0	0	0.003610	0	0
GAK	2580	broad.mit.edu	37	4	877135	877135	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:877135T>A	ENST00000314167.4	-	13	1482	c.1372A>T	c.(1372-1374)Agg>Tgg	p.R458W	GAK_ENST00000511163.1_Missense_Mutation_p.R379W	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	458	Phosphatase tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CGGTAGGTCCTCGGGGACAGG	0.587000													41	17					0	0	0.009718	0	0
KCTD8	386617	broad.mit.edu	37	4	44450425	44450425	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:44450425G>T	ENST00000360029.3	-	1	399	c.116C>A	c.(115-117)cCc>cAc	p.P39H		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	39						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GAAGGGCGAGGGTGCGCAggg	0.682000										HNSCC(17;0.042)			7	29					8.12818e-05	8.99778e-05	0.001984	1	0
ZNF862	643641	broad.mit.edu	37	7	149558392	149558392	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:149558392G>T	ENST00000223210.4	+	7	2388	c.2143G>T	c.(2143-2145)Gtc>Ttc	p.V715F		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	715					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GTTCCAGGAGGTCATCCCGCA	0.647000													10	22					0.000442599	0.00047647	0.006214	1	0
TARS	6897	broad.mit.edu	37	5	33462206	33462206	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:33462206A>G	ENST00000265112.3	+	16	2044	c.1733A>G	c.(1732-1734)cAt>cGt	p.H578R	TARS_ENST00000455217.2_Missense_Mutation_p.H611R|TARS_ENST00000414361.2_Missense_Mutation_p.H457R|TARS_ENST00000502553.1_Missense_Mutation_p.H578R|TARS_ENST00000541634.1_Missense_Mutation_p.H474R|TARS_ENST00000509410.1_3'UTR	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	578					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	CTTTATAGCCATGATGGTGAT	0.358000													19	134					0	0	0.007413	0	0
MTRR	4552	broad.mit.edu	37	5	7878080	7878080	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:7878080G>T	ENST00000264668.2	+	5	536	c.506G>T	c.(505-507)tGg>tTg	p.W169L	MTRR_ENST00000440940.2_Missense_Mutation_p.W142L|MTRR_ENST00000341013.6_3'UTR|MTRR_ENST00000502509.1_3'UTR	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	169	Flavodoxin-like.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	GTTGAGCCGTGGATTGCTGGA	0.473000													45	136					1.48526e-39	2.86524e-39	0.003610	1	0
ESYT2	57488	broad.mit.edu	37	7	158590748	158590748	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:158590748G>T	ENST00000251527.5	-	3	601	c.536C>A	c.(535-537)cCt>cAt	p.P179H	ESYT2_ENST00000497111.1_5'UTR	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	207						integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						GCAAATGAAAGGCCACATGTG	0.428000													11	26					2.80697e-09	3.61929e-09	0.010729	1	0
UNC79	57578	broad.mit.edu	37	14	94120109	94120109	+	Silent	SNP	G	G	T	rs142666714	byFrequency	TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr14:94120109G>T	ENST00000553484.1	+	38	6442	c.6288G>T	c.(6286-6288)gcG>gcT	p.A2096A	UNC79_ENST00000393151.2_Silent_p.A2074A|UNC79_ENST00000256339.4_Silent_p.A1897A|UNC79_ENST00000555664.1_Silent_p.A2035A			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2074						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCGGCAATGCGGCGGGGGTGG	0.532000													120	109					1.28113e-61	2.55409e-61	0.003610	1	0
NPAP1	23742	broad.mit.edu	37	15	24923267	24923267	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr15:24923267G>A	ENST00000329468.2	+	1	2727	c.2253G>A	c.(2251-2253)caG>caA	p.Q751Q		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TGCCTGCACAGTCAGTCAGGG	0.562000													84	63					0	0	0.003610	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38572906	38572906	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:38572906G>T	ENST00000222345.6	+	3	1210	c.701G>T	c.(700-702)gGg>gTg	p.G234V		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	234					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GACGCCCGAGGGTGCCAGGCC	0.701000													16	63					3.41278e-10	4.50243e-10	0.004990	1	0
LAMC3	10319	broad.mit.edu	37	9	133942513	133942513	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr9:133942513C>A	ENST00000361069.4	+	14	2647	c.2514C>A	c.(2512-2514)acC>acA	p.T838T	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	838	Laminin EGF-like 8.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TGCACAACACCACGGGTGACC	0.642000													32	8					2.47316e-13	3.54684e-13	0.003271	1	0
FAM84A	151354	broad.mit.edu	37	2	14774171	14774171	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:14774171G>T	ENST00000295092.2	+	2	356	c.68G>T	c.(67-69)gGg>gTg	p.G23V	FAM84A_ENST00000331243.4_Missense_Mutation_p.G23V	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	23										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)			GACCCGTCGGGGATTGAAAAG	0.617000													10	20					2.17888e-05	2.47546e-05	0.006214	1	0
TOPBP1	11073	broad.mit.edu	37	3	133358846	133358846	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:133358846T>A	ENST00000260810.5	-	13	2321	c.2190A>T	c.(2188-2190)agA>agT	p.R730S		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	730	BRCT 5.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TTTCGTCTGCTCTCTTTCCCG	0.368000								Other conserved DNA damage response genes					16	30					0	0	0.006122	0	0
NFE2	4778	broad.mit.edu	37	12	54686778	54686778	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:54686778G>A	ENST00000540264.2	-	2	1011	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	NFE2_ENST00000312156.4_Missense_Mutation_p.R168W|NFE2_ENST00000435572.2_Missense_Mutation_p.R168W|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Missense_Mutation_p.R168W			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	168	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						TCGCTGCGCCGCCGACCAGCC	0.552000													57	77					0	0	0.003610	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217315567	217315567	+	Splice_Site	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:217315567A>T	ENST00000357276.4	+	12	2181		c.e12-1		SMARCAL1_ENST00000358207.5_Splice_Site	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1						chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TGTTCTCTGCAGATGCCTTGG	0.612000									Schimke Immuno-Osseous Dysplasia				7	33					0	0	0.001984	0	0
MYOZ1	58529	broad.mit.edu	37	10	75397562	75397562	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:75397562C>A	ENST00000359322.4	-	3	556	c.192G>T	c.(190-192)caG>caT	p.Q64H		NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN	myozenin 1	64					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					CCACCCTCATCTGCCGCAGTT	0.488000													86	114					4.78148e-37	9.16756e-37	0.003610	1	0
TTN	7273	broad.mit.edu	37	2	179605447	179605447	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:179605447C>A	ENST00000589042.1	-	48	12737	c.12513G>T	c.(12511-12513)gaG>gaT	p.E4171D	TTN_ENST00000359218.5_Missense_Mutation_p.E3933D|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.E4000D|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E3808D|TTN_ENST00000591111.1_Missense_Mutation_p.E3854D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3854							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)			GTGTCTCAGGCTCTTCAGGCA	0.428000													43	45					1.47197e-15	2.2557e-15	0.007835	1	0
LINGO1	84894	broad.mit.edu	37	15	77906965	77906965	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr15:77906965G>C	ENST00000355300.6	-	2	1458	c.1284C>G	c.(1282-1284)gaC>gaG	p.D428E	LINGO1_ENST00000561030.1_Missense_Mutation_p.D422E	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	428	Ig-like C2-type.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GGGCCTTGCGGTCCCGGATGC	0.672000													5	16					0	0	0.000602	0	0
LRP1B	53353	broad.mit.edu	37	2	141267567	141267567	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:141267567G>T	ENST00000389484.3	-	52	9299	c.8328C>A	c.(8326-8328)ccC>ccA	p.P2776P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2776	LDL-receptor class A 17.				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)		GCCAATGTCGGGGCACGCAGG	0.522000										TSP Lung(27;0.18)			27	126					1.39806e-14	2.09625e-14	0.008361	1	0
TNNI1	7135	broad.mit.edu	37	1	201382239	201382239	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:201382239C>T	ENST00000361379.4	-	6	292	c.200G>A	c.(199-201)cGg>cAg	p.R67Q	TNNI1_ENST00000336092.4_Missense_Mutation_p.R67Q|TNNI1_ENST00000555948.1_Missense_Mutation_p.R67Q|TNNI1_ENST00000367312.1_Missense_Mutation_p.R67Q	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)	67			R -> W (in dbSNP:rs2296695).		muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding	p.R67L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						GTGCAGCTCCCGGCACAGGTC	0.592000													77	289					0	0	0.003610	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767133	77767133	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:77767133G>T	ENST00000521891.2	+	10	8424	c.7976G>T	c.(7975-7977)cGg>cTg	p.R2659L	ZFHX4_ENST00000518282.1_Missense_Mutation_p.R2633L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R2614L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R2614L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2614						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)			ACACGAGCGCGGGAGAGGAAA	0.527000										HNSCC(33;0.089)			40	171					1.57019e-19	2.60382e-19	0.007835	1	0
KCNH3	23416	broad.mit.edu	37	12	49944096	49944096	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:49944096C>T	ENST00000257981.6	+	10	2162	c.1902C>T	c.(1900-1902)acC>acT	p.T634T		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	634					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						AGGGTGGCACCGTGCTCGCCA	0.627000													37	48					0	0	0.009718	0	0
ZNF185	7739	broad.mit.edu	37	X	152083306	152083306	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chrX:152083306G>A	ENST00000535861.1	+	2	135	c.87G>A	c.(85-87)atG>atA	p.M29I	ZNF185_ENST00000318504.7_Missense_Mutation_p.M29I|ZNF185_ENST00000449285.2_Missense_Mutation_p.M29I|ZNF185_ENST00000539731.1_Missense_Mutation_p.M29I|ZNF185_ENST00000324823.6_5'UTR|ZNF185_ENST00000370268.4_Missense_Mutation_p.M29I	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	29						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					TCAAGCAGATGAAAGTGCGAA	0.592000													9	6					0	0	0.006214	0	0
RGPD3	653489	broad.mit.edu	37	2	107040686	107040686	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:107040686G>T	ENST00000409886.3	-	20	3824	c.3737C>A	c.(3736-3738)aCa>aAa	p.T1246K	RGPD3_ENST00000304514.7_Missense_Mutation_p.T1246K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1246					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCATTCTAATGTGGGCCCAGT	0.453000													126	131					8.174e-68	1.63742e-67	0.003610	1	0
DLGAP1	9229	broad.mit.edu	37	18	3534215	3534215	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr18:3534215C>A	ENST00000315677.3	-	10	3051	c.2456G>T	c.(2455-2457)cGg>cTg	p.R819L	DLGAP1_ENST00000515196.2_Missense_Mutation_p.R819L|DLGAP1_ENST00000581699.1_Missense_Mutation_p.R525L|DLGAP1_ENST00000534970.1_Missense_Mutation_p.R503L|DLGAP1_ENST00000539435.1_Missense_Mutation_p.R527L|DLGAP1_ENST00000400147.2_Missense_Mutation_p.R517L|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R819L|DLGAP1_ENST00000400155.1_Missense_Mutation_p.R525L|DLGAP1_ENST00000400150.3_Missense_Mutation_p.R535L|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R819L|DLGAP1_ENST00000400145.2_Missense_Mutation_p.R517L|DLGAP1_ENST00000400149.3_Missense_Mutation_p.R509L	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	819					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GTTGTTTTCCCGTTCTTCCCG	0.582000													37	34					1.49673e-21	2.56349e-21	0.006230	1	0
RASAL2	9462	broad.mit.edu	37	1	178427494	178427494	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:178427494G>C	ENST00000448150.3	+	14	3852	c.3034G>C	c.(3034-3036)Gcc>Ccc	p.A1012P	RASAL2_ENST00000367649.3_Missense_Mutation_p.A1023P|RASAL2_ENST00000462775.1_Missense_Mutation_p.A882P	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	882					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AGGTGCCCGAGCCAAAGCCCC	0.582000													31	25					0	0	0.010818	0	0
HDX	139324	broad.mit.edu	37	X	83730299	83730299	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chrX:83730299T>A	ENST00000297977.5	-	2	218	c.107A>T	c.(106-108)cAg>cTg	p.Q36L	HDX_ENST00000506585.2_Intron|HDX_ENST00000373177.2_Missense_Mutation_p.Q36L	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	36						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CTGTGCACACTGTAATATGAG	0.338000													17	30					0	0	0.007413	0	0
KNG1	3827	broad.mit.edu	37	3	186437939	186437939	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:186437939G>T	ENST00000265023.4	+	2	453	c.241G>T	c.(241-243)Ggg>Tgg	p.G81W	KNG1_ENST00000447445.1_Missense_Mutation_p.G81W|KNG1_ENST00000287611.2_Missense_Mutation_p.G81W|RP11-573D15.8_ENST00000599314.1_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	81	Cystatin 1.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	AATCAAGGAGGGGGATTGTCC	0.448000													18	33					8.00594e-06	9.25525e-06	0.007413	1	0
PCSK9	255738	broad.mit.edu	37	1	55512290	55512290	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:55512290G>T	ENST00000302118.5	+	3	784	c.494G>T	c.(493-495)cGg>cTg	p.R165L	PCSK9_ENST00000452118.2_Missense_Mutation_p.R165L|PCSK9_ENST00000543384.1_Intron	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	165	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						ACCCCTCCACGGTACCGGGCG	0.617000													15	18					2.23348e-06	2.64553e-06	0.004007	1	0
XIRP2	129446	broad.mit.edu	37	2	168101897	168101897	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:168101897A>G	ENST00000409195.1	+	9	4084	c.3995A>G	c.(3994-3996)cAt>cGt	p.H1332R	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.H1332R|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.H1110R|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1157					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						GGGTCCTATCATGAAGTGACC	0.383000													11	33					0	0	0.008291	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47424817	47424817	+	Missense_Mutation	SNP	G	G	C	rs140857154	by1000genomes	TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:47424817G>C	ENST00000404338.3	+	1	2885	c.2885G>C	c.(2884-2886)aGc>aCc	p.S962T		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	962					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										GAGGCCTGTAGCACCACCGAA	0.463000													3	35					0	0	0.004672	0	0
ANGPT4	51378	broad.mit.edu	37	20	896605	896605	+	Missense_Mutation	SNP	G	G	T	rs149874461		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr20:896605G>T	ENST00000381922.3	-	1	355	c.253C>A	c.(253-255)Cag>Aag	p.Q85K	ANGPT4_ENST00000546022.1_Missense_Mutation_p.Q85K	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	85					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TTCACCTGCTGGGTGGGCAAC	0.632000													54	95					4.1673e-28	7.62787e-28	0.003610	1	0
KALRN	8997	broad.mit.edu	37	3	124431918	124431918	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:124431918C>T	ENST00000360013.3	+	58	8339	c.8212C>T	c.(8212-8214)Ccc>Tcc	p.P2738S	KALRN_ENST00000291478.4_Missense_Mutation_p.P1041S|KALRN_ENST00000428018.2_Missense_Mutation_p.P1009S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2737	Protein kinase.				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						CCTACAGCACCCCCAGTACAT	0.498000													21	87					0	0	0.002299	0	0
FAM131C	348487	broad.mit.edu	37	1	16385088	16385088	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:16385088G>C	ENST00000375662.4	-	7	870	c.687C>G	c.(685-687)agC>agG	p.S229R	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	229	Pro-rich.									large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCAGCGGTGCTGGGGGGCT	0.736000													3	12					0	0	0.004672	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77191245	77191245	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:77191245G>T	ENST00000426126.2	+	2	774	c.125G>T	c.(124-126)gGa>gTa	p.G42V	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.G42V|ZDHHC17_ENST00000359019.4_Intron	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	42					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TATAACCATGGATATGGTGAA	0.343000													12	12					6.72482e-11	9.04348e-11	0.003163	1	0
ZP4	57829	broad.mit.edu	37	1	238050169	238050169	+	Splice_Site	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:238050169C>A	ENST00000366570.4	-	6	900		c.e6-1		RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4						acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CTCCAGTGATCTACAGGAATA	0.463000													45	15					1.02591e-13	1.49353e-13	0.010771	1	0
TAS2R30	259293	broad.mit.edu	37	12	11286404	11286404	+	Missense_Mutation	SNP	A	A	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:11286404A>C	ENST00000539585.1	-	1	839	c.440T>G	c.(439-441)aTa>aGa	p.I147R	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1			taste receptor, type 2, member 30											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						ATCCATGTTTATCACAAAAAG	0.373000													30	135					0	0	0.009535	0	0
PCLO	27445	broad.mit.edu	37	7	82453732	82453732	+	Splice_Site	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:82453732C>A	ENST00000423517.2	-	19	14753	c.14415_splice	c.e19-1	p.V4806_splice	PCLO_ENST00000333891.8_Splice_Site_p.V4806_splice|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4668					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCAATCAATACCTGAAAAAAA	0.313000													12	12					0.00010058	0.000110948	0.001368	1	0
RFPL2	10739	broad.mit.edu	37	22	32589152	32589152	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr22:32589152G>T	ENST00000400236.3	-	4	1228	c.23C>A	c.(22-24)gCa>gAa	p.A8E	RFPL2_ENST00000248983.4_Missense_Mutation_p.A8E|RFPL2_ENST00000400237.1_Missense_Mutation_p.A98E|RFPL2_ENST00000248980.4_Missense_Mutation_p.A37E|RFPL2_ENST00000489846.1_5'UTR	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	98							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						ACAGCTGCTTGCTTCTTGGAA	0.483000													59	9					7.10663e-31	1.32403e-30	0.003610	1	0
RPGRIP1	57096	broad.mit.edu	37	14	21769237	21769237	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr14:21769237C>A	ENST00000206660.6	+	3	331	c.331C>A	c.(331-333)Cag>Aag	p.Q111K	RPGRIP1_ENST00000400017.2_Missense_Mutation_p.Q111K|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.Q111K|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.Q111K			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	111					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GGGATGGCGGCAGCGCCTCTC	0.741000													7	25					2.0095e-06	2.38926e-06	0.001984	1	0
ETV3L	440695	broad.mit.edu	37	1	157062832	157062832	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:157062832A>T	ENST00000454449.2	-	5	979	c.695T>A	c.(694-696)tTc>tAc	p.F232Y		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	232						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GGGAGGAGTGAAGGAGGCAAC	0.647000													7	3					0	0	0.001984	0	0
PKHD1	5314	broad.mit.edu	37	6	51774135	51774135	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:51774135C>G	ENST00000371117.3	-	40	6903	c.6628G>C	c.(6628-6630)Ggg>Cgg	p.G2210R	PKHD1_ENST00000340994.4_Missense_Mutation_p.G2210R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2210					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)					AAGGCTTGCCCCAAGACTTGA	0.532000													51	56					0	0	0.003610	0	0
COPA	1314	broad.mit.edu	37	1	160281721	160281721	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:160281721T>C	ENST00000241704.7	-	11	1242	c.1013A>G	c.(1012-1014)gAc>gGc	p.D338G	COPA_ENST00000368069.3_Missense_Mutation_p.D338G	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	338					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TAAGAATCGGTCCTTGACATA	0.493000													6	31					0	0	0.003080	0	0
RGS2	5997	broad.mit.edu	37	1	192779316	192779316	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:192779316G>T	ENST00000235382.5	+	2	162	c.131G>T	c.(130-132)cGt>cTt	p.R44L	RGS2_ENST00000483295.1_3'UTR	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2, 24kDa	44	Necessary for membrane association.				cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity			large_intestine(3)|lung(1)|urinary_tract(1)	5						TGGAAGACCCGTTTGAGCTAC	0.358000													14	20					3.27435e-08	4.09539e-08	0.002450	1	0
KRT6C	286887	broad.mit.edu	37	12	52865270	52865270	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:52865270C>T	ENST00000252250.6	-	4	894	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	283	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GCTTGCAGTTCAACCTTGTTC	0.483000													33	57					0	0	0.003271	0	0
DECR2	26063	broad.mit.edu	37	16	461425	461425	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr16:461425G>C	ENST00000219481.5	+	8	864	c.726G>C	c.(724-726)aaG>aaC	p.K242N	DECR2_ENST00000461947.1_Intron|DECR2_ENST00000424398.2_Missense_Mutation_p.K230N	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	242						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				TGGGGAACAAGACCGAGATCG	0.687000													25	6					0	0	0.003330	0	0
MROH2B	133558	broad.mit.edu	37	5	41051185	41051185	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:41051185G>T	ENST00000399564.4	-	13	1688	c.1238C>A	c.(1237-1239)cCa>cAa	p.P413Q	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AGTTTTCACTGGTTTCTCCTT	0.428000													7	26					2.0095e-06	2.38926e-06	0.001984	1	0
BRINP3	339479	broad.mit.edu	37	1	190203589	190203589	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:190203589C>T	ENST00000367462.3	-	5	868	c.637G>A	c.(637-639)Ggt>Agt	p.G213S	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.G111S	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		213						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CCAAGAGGACCAGTCCGTGTT	0.388000													5	44					0	0	0.000602	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256192	15256192	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:15256192G>T	ENST00000378116.4	-	8	1401	c.1395C>A	c.(1393-1395)ccC>ccA	p.P465P	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	465			P -> S (in dbSNP:rs3814165).			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						TTGCCTTTAAGGGAAAAACCT	0.463000													18	12					3.70931e-20	6.19208e-20	0.006122	1	0
OR2G6	391211	broad.mit.edu	37	1	248685360	248685360	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:248685360C>A	ENST00000343414.4	+	1	445	c.413C>A	c.(412-414)cCc>cAc	p.P138H		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATTATGCACCCCAGGTTCTGT	0.587000													26	31					9.57634e-11	1.28094e-10	0.003330	1	0
TSPEAR	54084	broad.mit.edu	37	21	45947323	45947323	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr21:45947323C>A	ENST00000323084.4	-	7	1066	c.1001G>T	c.(1000-1002)cGc>cTc	p.R334L	TSPEAR_ENST00000397916.1_Missense_Mutation_p.R266L	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	334					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CTGAGGGATGCGGAACACCTC	0.522000													46	11					9.84934e-19	1.61405e-18	0.010771	1	0
FGFR1OP	11116	broad.mit.edu	37	6	167413566	167413566	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:167413566G>C	ENST00000366847.3	+	2	352	c.121G>C	c.(121-123)Gtg>Ctg	p.V41L	FGFR1OP_ENST00000349556.4_Missense_Mutation_p.V41L|FGFR1OP_ENST00000476078.1_3'UTR	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	41					G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		CCGAGCAGCTGTGTTTTTAGC	0.318000			T	FGFR1	"""MPD, NHL"""								13	5					0	0	0.003163	0	0
CALCRL	10203	broad.mit.edu	37	2	188243735	188243735	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:188243735C>A	ENST00000409998.1	-	9	1213	c.432G>T	c.(430-432)ctG>ctT	p.L144L	AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Silent_p.L144L|CALCRL_ENST00000392370.3_Silent_p.L144L|AC007319.1_ENST00000453517.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	144				L -> Q (in Ref. 4; BAF84319).		integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			CAATTATGGTCAGGTAAAACA	0.289000													14	40					6.94344e-10	9.05541e-10	0.006122	1	0
OR4K13	390433	broad.mit.edu	37	14	20502451	20502451	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr14:20502451G>T	ENST00000315693.2	-	1	468	c.467C>A	c.(466-468)tCa>tAa	p.S156*		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TTGACTAGATGAGTGCACAAA	0.463000													32	50					1.74807e-11	2.37889e-11	0.010818	1	0
CCDC80	151887	broad.mit.edu	37	3	112337825	112337825	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:112337825A>T	ENST00000206423.3	-	4	3115	c.2162T>A	c.(2161-2163)cTg>cAg	p.L721Q	CCDC80_ENST00000439685.2_Missense_Mutation_p.L721Q	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	721										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CTTGACTCTCAGATCCACATC	0.388000													45	44					0	0	0.003610	0	0
OR2A14	135941	broad.mit.edu	37	7	143826988	143826988	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:143826988C>A	ENST00000408899.2	+	1	838	c.783C>A	c.(781-783)ccC>ccA	p.P261P		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					ACATGGCCCCCAAGTCCCGCC	0.547000													89	75					5.02048e-33	9.48061e-33	0.003610	1	0
ST8SIA1	6489	broad.mit.edu	37	12	22402033	22402033	+	Splice_Site	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:22402033C>A	ENST00000396037.4	-	4	973		c.e4-1		ST8SIA1_ENST00000539510.1_Splice_Site	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1						glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						GAGATTGCATCTAGAGAAACA	0.338000													34	7					1.74807e-11	2.37889e-11	0.010818	1	0
ZDBF2	57683	broad.mit.edu	37	2	207176280	207176280	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:207176280G>A	ENST00000374423.3	+	5	7414	c.7028G>A	c.(7027-7029)cGg>cAg	p.R2343Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2343							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATGATGACTCGGCTAGCAAAC	0.408000													6	22					0	0	0.001168	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90576933	90576933	+	RNA	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:90576933A>T	ENST00000551025.1	+	0	5361							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TGAGTGATGCACAAATGGGTG	0.398000													40	17					0	0	0.007835	0	0
GRHPR	9380	broad.mit.edu	37	9	37424918	37424918	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr9:37424918G>T	ENST00000607784.1	+	2	165	c.160G>T	c.(160-162)Ggc>Tgc	p.G54C	GRHPR_ENST00000318158.6_Missense_Mutation_p.G54C|GRHPR_ENST00000493368.1_3'UTR			Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	54					cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		GGGGGCCCACGGCCTGCTCTG	0.667000													13	23					6.31663e-08	7.85344e-08	0.003163	1	0
FAAH2	158584	broad.mit.edu	37	X	57337123	57337123	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chrX:57337123G>T	ENST00000374900.4	+	3	493	c.373G>T	c.(373-375)Ggg>Tgg	p.G125W		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	125						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GCCCTTCCTTGGGGTTCCTTT	0.418000										HNSCC(52;0.14)			14	6					1.3612e-06	1.62928e-06	0.003163	1	0
PCDHB3	56132	broad.mit.edu	37	5	140480640	140480640	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:140480640A>T	ENST00000231130.2	+	1	407	c.407A>T	c.(406-408)aAt>aTt	p.N136I	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		136					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTTTGAAAATGAAATGCAT	0.393000													35	15					0	0	0.003271	0	0
PRNP	5621	broad.mit.edu	37	20	4679880	4679880	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr20:4679880G>C	ENST00000379440.4	+	2	301	c.14G>C	c.(13-15)gGc>gCc	p.G5A	PRNP_ENST00000430350.2_Missense_Mutation_p.G5A	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN	prion protein	5					axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	GCGAACCTTGGCTGCTGGATG	0.498000													31	64					0	0	0.003755	0	0
C11orf48	79081	broad.mit.edu	37	11	62430601	62430601	+	Nonstop_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:62430601C>G	ENST00000431002.2	-	5	2603	c.870G>C	c.(868-870)taG>taC	p.*290Y	C11orf48_ENST00000524958.1_Missense_Mutation_p.S98T|RP11-831H9.11_ENST00000528405.1_Intron|C11orf48_ENST00000532208.1_Nonstop_Mutation_p.*264Y|C11orf48_ENST00000525675.1_Nonstop_Mutation_p.*123Y|C11orf48_ENST00000354588.3_Nonstop_Mutation_p.*264Y			Q9BQE6	CK048_HUMAN	chromosome 11 open reading frame 48	0										endometrium(1)|lung(5)|urinary_tract(1)	7						CTGTGGTTCACTAGTCCTGGC	0.473000													29	32					0	0	0.012213	0	0
NPAP1	23742	broad.mit.edu	37	15	24923831	24923831	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr15:24923831C>A	ENST00000329468.2	+	1	3291	c.2817C>A	c.(2815-2817)agC>agA	p.S939R		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TGAGTGGCAGCATAATTCCAC	0.488000													20	70					4.35082e-09	5.58689e-09	0.010504	1	0
NAV3	89795	broad.mit.edu	37	12	78515962	78515962	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:78515962C>A	ENST00000397909.2	+	16	4165	c.3992C>A	c.(3991-3993)tCc>tAc	p.S1331Y	NAV3_ENST00000266692.7_Intron|NAV3_ENST00000228327.6_Missense_Mutation_p.S1331Y|NAV3_ENST00000536525.2_Missense_Mutation_p.S1331Y			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1331	Ser-rich.					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						TCGTTGGCCTCCAGCCCAGCA	0.532000										HNSCC(70;0.22)			36	54					1.03484e-13	1.50478e-13	0.005524	1	0
FMO1	2326	broad.mit.edu	37	1	171249944	171249944	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:171249944G>C	ENST00000354841.4	+	5	778	c.647G>C	c.(646-648)gGa>gCa	p.G216A	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.G216A|FMO1_ENST00000402921.2_Missense_Mutation_p.G153A			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	216					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCACCACCGGAGGGGGATGG	0.512000													13	40					0	0	0.002450	0	0
CCDC63	160762	broad.mit.edu	37	12	111345233	111345233	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:111345233C>T	ENST00000308208.5	+	12	1887	c.1645C>T	c.(1645-1647)Cct>Tct	p.P549S	CCDC63_ENST00000545036.1_Missense_Mutation_p.P509S|CCDC63_ENST00000552694.1_Missense_Mutation_p.P470S	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	549										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						AGACAGCCTGCCTGAGAAGGT	0.502000													23	48					0	0	0.002780	0	0
CRYBG3	131544	broad.mit.edu	37	3	97599971	97599971	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:97599971G>T	ENST00000182096.4	+	4	1280	c.1216G>T	c.(1216-1218)Ggg>Tgg	p.G406W		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GCTAGAAGAAGGGGAAAAGGT	0.353000													12	11					0.000978159	0.00104404	0.010729	1	0
TCEAL5	340543	broad.mit.edu	37	X	102528906	102528906	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chrX:102528906C>A	ENST00000372680.1	-	3	880	c.586G>T	c.(586-588)Ggc>Tgc	p.G196C		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TCTTTCTGGCCCCTACCTCCG	0.493000													50	21					6.34439e-16	9.87957e-16	0.003610	1	0
SLC22A12	116085	broad.mit.edu	37	11	64368221	64368221	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:64368221G>T	ENST00000377574.1	+	9	2156	c.1409G>T	c.(1408-1410)gGc>gTc	p.G470V	SLC22A12_ENST00000377567.2_Missense_Mutation_p.G362V|SLC22A12_ENST00000377572.1_Missense_Mutation_p.G362V|SLC22A12_ENST00000473690.1_Missense_Mutation_p.G249V|SLC22A12_ENST00000336464.7_Missense_Mutation_p.G436V	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	470					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						ACGGCAGTGGGCTTGGGCCAG	0.672000													12	59					4.3838e-07	5.35988e-07	0.001855	1	0
NR4A1	3164	broad.mit.edu	37	12	52452475	52452475	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:52452475G>C	ENST00000545748.1	+	8	2701	c.1706G>C	c.(1705-1707)cGg>cCg	p.R569P	NR4A1_ENST00000550082.1_Missense_Mutation_p.R528P|NR4A1_ENST00000394824.2_Missense_Mutation_p.R515P|NR4A1_ENST00000394825.1_Missense_Mutation_p.R515P|NR4A1_ENST00000243050.1_Missense_Mutation_p.R515P|NR4A1_ENST00000360284.3_Missense_Mutation_p.R528P			P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	515					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CCCGCAGACCGGCATGGGCTG	0.677000													7	10					0	0	0.001984	0	0
ZNF136	7695	broad.mit.edu	37	19	12298427	12298427	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:12298427A>T	ENST00000343979.4	+	4	1374	c.1234A>T	c.(1234-1236)Aga>Tga	p.R412*	ZNF136_ENST00000398616.2_Nonsense_Mutation_p.R346*	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	412					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						AATACATGAAAGAACTCACAC	0.363000													18	7					0	0	0.006122	0	0
EIF4E2	9470	broad.mit.edu	37	2	233431634	233431634	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:233431634G>T	ENST00000409514.1	+	5	513	c.471G>T	c.(469-471)ggG>ggT	p.G157G	EIF4E2_ENST00000409167.3_Silent_p.G112G|EIF4E2_ENST00000409322.1_Silent_p.G112G|EIF4E2_ENST00000258416.3_Silent_p.G157G|EIF4E2_ENST00000409495.1_Silent_p.G157G|EIF4E2_ENST00000409098.1_Silent_p.G157G|EIF4E2_ENST00000409394.1_Silent_p.G112G			O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	157	EIF4EBP1/2/3 binding.				regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CCATGCTGGGGGAACAGTTCA	0.532000													17	45					5.35267e-07	6.53809e-07	0.007413	1	0
NRCAM	4897	broad.mit.edu	37	7	107818538	107818538	+	Silent	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:107818538A>T	ENST00000379028.3	-	26	3341	c.2871T>A	c.(2869-2871)tcT>tcA	p.S957S	NRCAM_ENST00000413765.2_Silent_p.S938S|NRCAM_ENST00000379022.4_Silent_p.S957S|NRCAM_ENST00000379024.4_Silent_p.S938S|NRCAM_ENST00000425651.2_Silent_p.S957S|NRCAM_ENST00000351718.4_Silent_p.S941S			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	957	Fibronectin type-III 4.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CAATCTTCAAAGACGAGGGAG	0.438000													26	7					0	0	0.004656	0	0
C14orf105	55195	broad.mit.edu	37	14	57957781	57957781	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr14:57957781C>T	ENST00000216445.3	-	2	368	c.232G>A	c.(232-234)Gac>Aac	p.D78N	C14orf105_ENST00000526336.1_Missense_Mutation_p.D78N|C14orf105_ENST00000422976.2_Missense_Mutation_p.D78N|C14orf105_ENST00000534126.1_Missense_Mutation_p.D78N	NM_018168.2	NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	78										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						AAATACATGTCTCTGGATGCT	0.333000													9	40					0	0	0.008291	0	0
SLC2A10	81031	broad.mit.edu	37	20	45355581	45355581	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr20:45355581G>T	ENST00000359271.2	+	3	1617	c.1367G>T	c.(1366-1368)tGg>tTg	p.W456L		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	456						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				AGCTTCAACTGGGCGGCCAAC	0.552000													74	38					1.74474e-33	3.31475e-33	0.003610	1	0
OR51D1	390038	broad.mit.edu	37	11	4661045	4661045	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:4661045C>T	ENST00000357605.2	+	1	101	c.25C>T	c.(25-27)Cct>Tct	p.P9S		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTCTTGGTCCCTATCATAGC	0.478000													31	76					0	0	0.010818	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881413	228881413	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:228881413G>T	ENST00000392056.3	-	7	4203	c.4157C>A	c.(4156-4158)tCt>tAt	p.S1386Y	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1386Y	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1386						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTTGCTCAAAGATGACACTGG	0.483000													20	55					2.37509e-13	3.41402e-13	0.010504	1	0
VSIG2	23584	broad.mit.edu	37	11	124621372	124621372	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:124621372C>A	ENST00000403470.1	-	2	221	c.166G>T	c.(166-168)Gcc>Tcc	p.A56S	VSIG2_ENST00000326621.5_Missense_Mutation_p.A56S			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	56	Ig-like V-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		CACTCCAGGGCGAAGCTGTCT	0.632000													20	43					1.00905e-13	1.47069e-13	0.008871	1	0
FANCG	2189	broad.mit.edu	37	9	35074939	35074939	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr9:35074939C>A	ENST00000378643.3	-	12	2112	c.1621G>T	c.(1621-1623)Gtg>Ttg	p.V541L	FANCG_ENST00000476212.1_Intron	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	541					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CACATCTGCACACTGAGGAGG	0.542000			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks					23	90					4.16121e-05	4.65164e-05	0.002780	1	0
AEBP2	121536	broad.mit.edu	37	12	19646919	19646919	+	Splice_Site	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:19646919A>G	ENST00000266508.9	+	4	1174	c.1174_splice	c.e4+1	p.L391_splice	AEBP2_ENST00000541908.1_Splice_Site_p.L162_splice|AEBP2_ENST00000398864.3_Splice_Site_p.L391_splice|AEBP2_ENST00000360995.4_Splice_Site_p.L175_splice	NM_153207.4	NP_694939.2	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	391	Interaction with SUZ12.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					GACGCTCATTACGTAAGTGTT	0.358000													7	7					0	0	0.003080	0	0
FAM133B	257415	broad.mit.edu	37	7	92210862	92210862	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:92210862C>A	ENST00000438306.1	-	3	280	c.50G>T	c.(49-51)gGg>gTg	p.G17V	FAM133B_ENST00000427372.1_Missense_Mutation_p.G17V|FAM133B_ENST00000445716.1_Missense_Mutation_p.G27V	NM_001040057.1	NP_001035146.1	Q5BKY9	F133B_HUMAN	family with sequence similarity 133, member B	27										endometrium(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	4	all_cancers(62;7.39e-11)|all_epithelial(64;7.03e-10)|Breast(17;0.00201)|all_lung(186;0.0384)|Lung NSC(181;0.053)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;9.78e-06)|all cancers(6;1.67e-05)|Epithelial(20;0.113)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TATTGTTGGCCCTGAAGACTG	0.373000													6	38					5.18039e-06	6.04459e-06	0.003080	1	0
TTN	7273	broad.mit.edu	37	2	179606420	179606420	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:179606420G>T	ENST00000589042.1	-	48	11764	c.11540C>A	c.(11539-11541)cCc>cAc	p.P3847H	TTN_ENST00000359218.5_Missense_Mutation_p.P3609H|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.P3676H|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P3484H|TTN_ENST00000591111.1_Missense_Mutation_p.P3530H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3530							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)			TTTAGGTTTGGGGATGCCAAT	0.418000													17	71					6.94344e-10	9.05541e-10	0.006122	1	0
ZNF467	168544	broad.mit.edu	37	7	149462853	149462853	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:149462853G>A	ENST00000302017.3	-	5	1151	c.738C>T	c.(736-738)tgC>tgT	p.C246C	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGCACTCCGCGCACGGGTAGG	0.677000													4	23					0	0	0.000602	0	0
SZT2	23334	broad.mit.edu	37	1	43886870	43886870	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:43886870G>T	ENST00000562955.1	+	11	1522	c.1522G>T	c.(1522-1524)Gcc>Tcc	p.A508S		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	508						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCAGATGCTTGCCCACCTTCA	0.567000													72	9					5.29578e-48	1.03599e-47	0.003610	1	0
TTN	7273	broad.mit.edu	37	2	179616287	179616287	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:179616287C>A	ENST00000360870.5	-	46	11062	c.10840G>T	c.(10840-10842)Gaa>Taa	p.E3614*	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9474							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)			TGTGTCCGTTCTGCTCTTTTC	0.383000													17	109					1.15088e-07	1.42241e-07	0.004007	1	0
VNN2	8875	broad.mit.edu	37	6	133073888	133073888	+	Splice_Site	SNP	A	A	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:133073888A>C	ENST00000326499.6	-	4	662	c.537_splice	c.e4-1	p.Y180_splice	VNN2_ENST00000525289.1_Intron|VNN2_ENST00000525270.1_Splice_Site_p.Y127_splice|RP1-55C23.7_ENST00000430895.1_RNA	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	180	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		TACAGGTGGTACTACAACAAA	0.408000													26	38					0	0	0.004656	0	0
SMIM19	114926	broad.mit.edu	37	8	42401673	42401673	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:42401673G>A	ENST00000438528.3	+	2	107	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	SMIM19_ENST00000414154.2_Missense_Mutation_p.E20K|SMIM19_ENST00000490331.2_Missense_Mutation_p.E20K|SMIM19_ENST00000416469.2_Missense_Mutation_p.E20K|SMIM19_ENST00000529505.1_3'UTR|SMIM19_ENST00000417410.2_Missense_Mutation_p.E20K	NM_001135676.1	NP_001129148.1			small integral membrane protein 19																		TACTGTTCACGAAGCCTGGAA	0.408000													19	25					0	0	0.012319	0	0
DNAJB4	11080	broad.mit.edu	37	1	78481780	78481780	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:78481780G>T	ENST00000370763.5	+	3	1120	c.863G>T	c.(862-864)gGa>gTa	p.G288V	DNAJB4_ENST00000487931.1_3'UTR|GIPC2_ENST00000476882.1_Intron	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	288					protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GTGAAACCCGGAATGAGGAGA	0.398000													10	14					0.000442599	0.00047647	0.006214	1	0
ZNF577	84765	broad.mit.edu	37	19	52376759	52376759	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:52376759C>A	ENST00000420592.1	-	6	1640	c.307G>T	c.(307-309)Gtg>Ttg	p.V103L	ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000301399.5_Missense_Mutation_p.V162L|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Missense_Mutation_p.V103L			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CTCCCGCACACACTGCATTCA	0.443000													64	16					5.10652e-33	9.62856e-33	0.003610	1	0
CDH20	28316	broad.mit.edu	37	18	59203832	59203832	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr18:59203832C>A	ENST00000262717.4	+	8	1776	c.1378C>A	c.(1378-1380)Cat>Aat	p.H460N	CDH20_ENST00000538374.1_Missense_Mutation_p.H460N|CDH20_ENST00000536675.2_Missense_Mutation_p.H460N			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	460	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ATTTTCTTGGCATAATATCAC	0.403000													9	63					0.00448238	0.00471592	0.004482	1	0
HEPACAM2	253012	broad.mit.edu	37	7	92848567	92848567	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:92848567C>G	ENST00000394468.2	-	2	354	c.277G>C	c.(277-279)Gaa>Caa	p.E93Q	HEPACAM2_ENST00000341723.4_Missense_Mutation_p.E81Q|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.E81Q|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.E116Q	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	93						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TGTTGGTATTCCAAGTCAGGA	0.458000													23	35					0	0	0.002299	0	0
LOC150776	150776	broad.mit.edu	37	2	132273204	132273204	+	RNA	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:132273204G>C	ENST00000438378.2	+	0	1264					NR_026922.1																						AGGAGCATGTGTTGGTGGTGC	0.662000													3	5					0	0	0.009096	0	0
MAGI2	9863	broad.mit.edu	37	7	77789350	77789350	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:77789350G>T	ENST00000354212.4	-	16	3090	c.2837C>A	c.(2836-2838)tCc>tAc	p.S946Y	MAGI2_ENST00000419488.1_Missense_Mutation_p.S932Y|MAGI2_ENST00000522391.1_Missense_Mutation_p.S946Y	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	946	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ACTTATAGTGGATCCAGACTC	0.463000													15	29					1.49906e-05	1.70931e-05	0.002450	1	0
OR51A2	401667	broad.mit.edu	37	11	4976505	4976505	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:4976505C>A	ENST00000380371.1	-	1	438	c.439G>T	c.(439-441)Ggg>Tgg	p.G147W	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATACTATCCCTATTTGGGCA	0.423000													20	7					1.08312e-15	1.66389e-15	0.009535	1	0
TTN	7273	broad.mit.edu	37	2	179432053	179432053	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:179432053G>A	ENST00000589042.1	-	326	79030	c.78806C>T	c.(78805-78807)tCc>tTc	p.S26269F	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S17329F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S23701F|TTN_ENST00000342175.6_Missense_Mutation_p.S17396F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S17204F|TTN_ENST00000591111.1_Missense_Mutation_p.S24628F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24628	Fibronectin type-III 91.						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)			TGCAACATTGGAAGCTCTTAA	0.383000													54	204					0	0	0.003610	0	0
OR5D14	219436	broad.mit.edu	37	11	55563407	55563407	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:55563407G>T	ENST00000335605.1	+	1	376	c.376G>T	c.(376-378)Gtg>Ttg	p.V126L		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGACCGCTTTGTGGCCATCTG	0.527000													32	18					2.61193e-14	3.87457e-14	0.009535	1	0
CSMD2	114784	broad.mit.edu	37	1	34192228	34192228	+	Silent	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:34192228A>T	ENST00000373381.4	-	16	2603	c.2427T>A	c.(2425-2427)ccT>ccA	p.P809P		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	769	CUB 5.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGTAGAAGCCAGGCCAGCCCG	0.597000													27	19					0	0	0.006320	0	0
PKHD1	5314	broad.mit.edu	37	6	51613290	51613290	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:51613290T>C	ENST00000371117.3	-	58	9399	c.9124A>G	c.(9124-9126)Att>Gtt	p.I3042V	PKHD1_ENST00000340994.4_Missense_Mutation_p.I3042V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3042					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)					CCAAACACAATATTGTCATTT	0.493000													17	49					0	0	0.004007	0	0
ILDR2	387597	broad.mit.edu	37	1	166904587	166904587	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:166904587C>A	ENST00000271417.3	-	6	886	c.831G>T	c.(829-831)ccG>ccT	p.P277P	ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000528703.1_Intron|ILDR2_ENST00000529071.1_Silent_p.P258P|ILDR2_ENST00000469934.2_Silent_p.P277P|ILDR2_ENST00000529387.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	277						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GAGGTGGATGCGGCTTGTCCA	0.622000													38	46					6.2361e-21	1.05508e-20	0.007835	1	0
TNFRSF8	943	broad.mit.edu	37	1	12144554	12144554	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:12144554C>A	ENST00000263932.2	+	2	319	c.97C>A	c.(97-99)Ccc>Acc	p.P33T	TNFRSF8_ENST00000417814.2_Intron	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	33					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		TCATGGAAACCCCAGCCACTA	0.592000													12	76					7.93312e-07	9.57789e-07	0.002450	1	0
TRIM10	10107	broad.mit.edu	37	6	30121889	30121889	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:30121889G>C	ENST00000449742.2	-	7	1378	c.1303C>G	c.(1303-1305)Ctt>Gtt	p.L435V	TRIM10_ENST00000376704.3_Intron	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	435	B30.2/SPRY.					cytoplasm	zinc ion binding			ovary(1)	1						TCATAGTCAAGAGACACCCTC	0.612000													21	17					0	0	0.012319	0	0
CPLX2	10814	broad.mit.edu	37	5	175306040	175306040	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:175306040G>C	ENST00000359546.4	+	4	804	c.161G>C	c.(160-162)cGc>cCc	p.R54P	CPLX2_ENST00000393745.3_Missense_Mutation_p.R54P|CPLX2_ENST00000512824.1_Missense_Mutation_p.R54P|CPLX2_ENST00000515094.1_Missense_Mutation_p.R54P	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	complexin 2	54	Interaction with the SNARE complex (By similarity).				mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis	cytosol				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AAGCACGCGCGCATGGAGGCG	0.692000													5	1					0	0	0.000602	0	0
LAMC3	10319	broad.mit.edu	37	9	133914606	133914606	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr9:133914606G>T	ENST00000361069.4	+	6	1387	c.1254G>T	c.(1252-1254)ggG>ggT	p.G418G	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	418	Laminin EGF-like 3.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GTCTGCCCGGGTTCCACTCGC	0.622000													17	6					1.02788e-11	1.41109e-11	0.004990	1	0
FCRL5	83416	broad.mit.edu	37	1	157494195	157494195	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:157494195C>T	ENST00000361835.3	-	10	2270	c.2113G>A	c.(2113-2115)Gcc>Acc	p.A705T	FCRL5_ENST00000368190.3_Missense_Mutation_p.A705T|FCRL5_ENST00000368191.3_Missense_Mutation_p.A620T|FCRL5_ENST00000356953.4_Missense_Mutation_p.A705T	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	705	Ig-like C2-type 7.					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)				CCAGAGGGGGCTGAGATCTTA	0.567000													47	46					0	0	0.003610	0	0
IL5	3567	broad.mit.edu	37	5	131879088	131879088	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:131879088G>T	ENST00000231454.1	-	1	126	c.83C>A	c.(82-84)gCa>gAa	p.A28E		NM_000879.2	NP_000870.1	P05113	IL5_HUMAN	interleukin 5 (colony-stimulating factor, eosinophil)	28					immune response|inflammatory response|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of podosome assembly	extracellular space	cytokine activity|growth factor activity|interleukin-5 receptor binding			endometrium(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Pranlukast(DB01411)	TTTCACCAATGCACTTGTGGG	0.453000													30	14					4.74835e-14	7.00228e-14	0.010818	1	0
ADAM11	4185	broad.mit.edu	37	17	42854956	42854956	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:42854956G>T	ENST00000200557.6	+	22	2057	c.1888G>T	c.(1888-1890)Gag>Tag	p.E630*	ADAM11_ENST00000535346.1_Nonsense_Mutation_p.E430*	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	630	Cys-rich.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CCAGGGCAAGGAGCTGGACTG	0.607000													57	20					1.0442e-30	1.94255e-30	0.003610	1	0
ITGA2B	3674	broad.mit.edu	37	17	42455818	42455818	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:42455818G>C	ENST00000262407.5	-	20	2037	c.2006C>G	c.(2005-2007)gCc>gGc	p.A669G	ITGA2B_ENST00000353281.4_Missense_Mutation_p.A669G	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	669					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	GCCCTCGTTGGCTGCGTCCAT	0.652000													8	10					0	0	0.003080	0	0
KRT5	3852	broad.mit.edu	37	12	52913994	52913994	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:52913994G>T	ENST00000252242.4	-	1	477	c.87C>A	c.(85-87)cgC>cgA	p.R29R		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	29	Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	p.R29R(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGAAGCTGGTGCGGGAGACAG	0.662000													10	46					1.76689e-08	2.23224e-08	0.006214	1	0
ASTN2	23245	broad.mit.edu	37	9	119568059	119568059	+	Missense_Mutation	SNP	A	A	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr9:119568059A>C	ENST00000313400.4	-	13	2348	c.2248T>G	c.(2248-2250)Tgc>Ggc	p.C750G	ASTN2_ENST00000361209.2_Missense_Mutation_p.C699G|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.C746G			O75129	ASTN2_HUMAN	astrotactin 2	750	EGF-like 3.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGCATTAAGCAGGATTTTCCA	0.473000													63	20					0	0	0.003610	0	0
EXOC8	149371	broad.mit.edu	37	1	231472716	231472716	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:231472716C>A	ENST00000366645.1	-	1	882	c.764G>T	c.(763-765)aGc>aTc	p.S255I	EXOC8_ENST00000360394.2_Missense_Mutation_p.S259I			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	259	PH.				exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GAAAATACGGCTCTCGGGGAA	0.522000													53	19					3.50607e-19	5.79867e-19	0.003610	1	0
F13B	2165	broad.mit.edu	37	1	197026446	197026446	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:197026446C>T	ENST00000367412.1	-	6	998	c.955G>A	c.(955-957)Gga>Aga	p.G319R		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	319	Sushi 5.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GTCCATTTTCCATCTTCACAA	0.358000													21	71					0	0	0.002780	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70728531	70728531	+	Splice_Site	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:70728531C>A	ENST00000370944.4	-	13	1809		c.e13-1		ANKRD13C_ENST00000262346.6_Splice_Site|ANKRD13C_ENST00000464236.1_Intron	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C						protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						ACAGGTATATCTACAGAGAGA	0.343000													13	18					5.50884e-06	6.38617e-06	0.001368	1	0
TCF20	6942	broad.mit.edu	37	22	42606592	42606592	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr22:42606592C>G	ENST00000359486.3	-	1	4856	c.4720G>C	c.(4720-4722)Gag>Cag	p.E1574Q	TCF20_ENST00000335626.4_Missense_Mutation_p.E1574Q	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1574					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGCTTTGGCTCTCCATCTGCA	0.547000													53	19					0	0	0.003610	0	0
HERC2P3	283755	broad.mit.edu	37	15	20644533	20644533	+	RNA	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr15:20644533C>T	ENST00000428453.1	-	0	3187																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TGGCACTACACGGCTCTTCAC	0.637000													3	5					0	0	0.004672	0	0
PRRX1	5396	broad.mit.edu	37	1	170695468	170695468	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:170695468G>T	ENST00000239461.6	+	3	838	c.525G>T	c.(523-525)gtG>gtT	p.V175V	PRRX1_ENST00000497230.2_Silent_p.V175V|PRRX1_ENST00000367760.3_Silent_p.V175V|PRRX1_ENST00000476867.2_3'UTR	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	175						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)					TGACTGCTGTGGAGCAGCCCA	0.557000													24	46					4.16121e-05	4.65164e-05	0.002780	1	0
FAM124B	79843	broad.mit.edu	37	2	225266347	225266347	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:225266347G>T	ENST00000389874.3	-	1	364	c.139C>A	c.(139-141)Cgg>Agg	p.R47R	FAM124B_ENST00000243806.2_Silent_p.R47R|FAM124B_ENST00000409685.3_Silent_p.R47R	NM_024785.2	NP_079061.2	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	47							protein binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		GGACTGGCCCGTTCAGACACC	0.572000													10	39					2.80697e-09	3.61929e-09	0.010729	1	0
C20orf26	26074	broad.mit.edu	37	20	20232362	20232362	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr20:20232362C>G	ENST00000245957.5	+	20	2359	c.2283C>G	c.(2281-2283)atC>atG	p.I761M	C20orf26_ENST00000389656.3_Missense_Mutation_p.I117M|C20orf26_ENST00000377309.2_Missense_Mutation_p.I117M|C20orf26_ENST00000377293.1_Missense_Mutation_p.I117M	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	761										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CGGACGAGATCGTGCCCTACG	0.597000													58	75					0	0	0.003610	0	0
RYR3	6263	broad.mit.edu	37	15	33895566	33895566	+	Splice_Site	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr15:33895566G>T	ENST00000389232.4	+	18	2234		c.e18+1		RYR3_ENST00000415757.3_Splice_Site	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						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)		CTTTGGTCAGGTGAGTACCTT	0.468000													103	89					3.22635e-48	6.33133e-48	0.003610	1	0
TEF	7008	broad.mit.edu	37	22	41783370	41783370	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr22:41783370A>T	ENST00000266304.4	+	2	289	c.173A>T	c.(172-174)aAg>aTg	p.K58M	TEF_ENST00000406644.3_Missense_Mutation_p.K28M	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	58					rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						GAAAAGGGGAAGGAAAAGCTG	0.557000													9	32					0	0	0.004482	0	0
MUC16	94025	broad.mit.edu	37	19	9084550	9084550	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:9084550G>T	ENST00000397910.4	-	1	7468	c.7265C>A	c.(7264-7266)aCa>aAa	p.T2422K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2422	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCTGTATTTGTCTCTGTTGT	0.498000													16	9					4.7546e-09	6.0929e-09	0.004007	1	0
MYBPC3	4607	broad.mit.edu	37	11	47360203	47360203	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:47360203G>A	ENST00000399249.2	-	22	2230	c.2176C>T	c.(2176-2178)Cgc>Tgc	p.R726C	MYBPC3_ENST00000545968.1_Missense_Mutation_p.R726C|MYBPC3_ENST00000256993.4_Missense_Mutation_p.R725C			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	725	Ig-like C2-type 5.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GTCTCCACGCGGACCCGGCCC	0.642000													16	5					0	0	0.004990	0	0
KIAA0430	9665	broad.mit.edu	37	16	15728691	15728691	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr16:15728691C>A	ENST00000396368.3	-	4	1135	c.929G>T	c.(928-930)gGc>gTc	p.G310V	KIAA0430_ENST00000551742.1_Missense_Mutation_p.G310V|KIAA0430_ENST00000540441.2_Missense_Mutation_p.G310V|KIAA0430_ENST00000344181.3_Missense_Mutation_p.G132V|KIAA0430_ENST00000548025.1_Missense_Mutation_p.G310V|KIAA0430_ENST00000602337.1_Missense_Mutation_p.G310V	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	309						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GGTTCCACAGCCATTACACAG	0.458000													47	61					6.68952e-21	1.13027e-20	0.013114	1	0
WDR12	55759	broad.mit.edu	37	2	203765834	203765834	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:203765834T>C	ENST00000261015.3	-	3	894	c.145A>G	c.(145-147)Aaa>Gaa	p.K49E	WDR12_ENST00000477723.1_5'UTR	NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12	49					cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TCCACATGTTTGTGGAACTCT	0.373000													8	13					0	0	0.006214	0	0
RANBP2	5903	broad.mit.edu	37	2	109388981	109388981	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:109388981G>T	ENST00000283195.6	+	22	8183	c.8057G>T	c.(8056-8058)gGa>gTa	p.G2686V		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2686	2 X 50 AA approximate repeats.|Interaction with SUMO1.|Required for E3 SUMO-ligase activity.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AAACTTAATGGAAAACTATAT	0.323000													15	15					1.02788e-11	1.41109e-11	0.004990	1	0
PTPRC	5788	broad.mit.edu	37	1	198703512	198703512	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:198703512C>A	ENST00000367376.2	+	22	2400	c.2229C>A	c.(2227-2229)gcC>gcA	p.A743A	PTPRC_ENST00000442510.2_Silent_p.A745A|PTPRC_ENST00000348564.6_Silent_p.A584A|PTPRC_ENST00000352140.3_Silent_p.A695A|PTPRC_ENST00000594404.1_Silent_p.A582A	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	743	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AACAGAAAGCCACAGTTATTG	0.393000													131	196					8.25677e-62	1.64872e-61	0.003610	1	0
ZNF91	7644	broad.mit.edu	37	19	23543273	23543273	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:23543273C>A	ENST00000300619.7	-	4	2713	c.2508G>T	c.(2506-2508)aaG>aaT	p.K836N	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.K804N	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	836						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CTGAGGAGTGCTTAAAAGCTT	0.378000													18	37					2.35188e-11	3.19713e-11	0.006122	1	0
SP140	11262	broad.mit.edu	37	2	231174726	231174726	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:231174726T>C	ENST00000392045.3	+	23	2260	c.2146T>C	c.(2146-2148)Tgt>Cgt	p.C716R	SP140_ENST00000350136.5_Missense_Mutation_p.C585R|SP140_ENST00000486687.2_Missense_Mutation_p.C640R|SP140_ENST00000417495.3_Missense_Mutation_p.C602R|SP140_ENST00000343805.6_Missense_Mutation_p.C656R|SP140_ENST00000420434.3_Missense_Mutation_p.C689R	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	716					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CCATGAGGACTGTCACATCCC	0.517000													17	61					0	0	0.004990	0	0
CCDC135	84229	broad.mit.edu	37	16	57760145	57760145	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr16:57760145A>T	ENST00000360716.3	+	14	2145	c.1924A>T	c.(1924-1926)Agc>Tgc	p.S642C	CCDC135_ENST00000336825.8_Missense_Mutation_p.S577C|CCDC135_ENST00000394337.4_Missense_Mutation_p.S642C			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	642						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CGAGGTGGACAGCAAAGGCAA	0.662000													23	9					0	0	0.003330	0	0
CSMD3	114788	broad.mit.edu	37	8	113516144	113516144	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:113516144G>T	ENST00000297405.5	-	30	5202	c.4958C>A	c.(4957-4959)cCa>cAa	p.P1653Q	CSMD3_ENST00000352409.3_Missense_Mutation_p.P1653Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.P1549Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.P1613Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1653	CUB 9.					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						TCCAATCAGTGGGCTATTACT	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			64	34					3.13743e-37	6.04317e-37	0.003610	1	0
DLG2	1740	broad.mit.edu	37	11	83180382	83180382	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:83180382A>T	ENST00000398309.2	-	20	2636	c.2166T>A	c.(2164-2166)gaT>gaA	p.D722E	DLG2_ENST00000426717.2_Missense_Mutation_p.D186E|DLG2_ENST00000543673.1_Missense_Mutation_p.D827E|DLG2_ENST00000280241.8_Missense_Mutation_p.D761E|DLG2_ENST00000376106.3_Missense_Mutation_p.D186E|DLG2_ENST00000532653.1_Missense_Mutation_p.D704E|DLG2_ENST00000404783.3_Missense_Mutation_p.D200E|DLG2_ENST00000376104.2_Missense_Mutation_p.D827E|DLG2_ENST00000531015.1_Missense_Mutation_p.D689E|DLG2_ENST00000524982.1_Missense_Mutation_p.D718E|DLG2_ENST00000330014.6_Missense_Mutation_p.D643E|DLG2_ENST00000418306.2_Missense_Mutation_p.D601E|DLG2_ENST00000537455.1_Missense_Mutation_p.D472E	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	722	Guanylate kinase-like.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AGTCTCTGCCATCCACCTCGT	0.363000													9	62					0	0	0.006214	0	0
PCLO	27445	broad.mit.edu	37	7	82390062	82390062	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:82390062G>T	ENST00000333891.8	-	24	15518	c.15181C>A	c.(15181-15183)Caa>Aaa	p.Q5061K		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4984					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACCTTTTTTTGGGTAGAAATA	0.303000													10	8					1.76689e-08	2.23224e-08	0.006214	1	0
LMX1A	4009	broad.mit.edu	37	1	165175199	165175199	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:165175199T>A	ENST00000342310.3	-	8	1272	c.890A>T	c.(889-891)cAg>cTg	p.Q297L	LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_Missense_Mutation_p.Q297L|LMX1A_ENST00000367893.4_Missense_Mutation_p.Q297L	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	297						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CAGGAGCTGCTGTGGGGTGGG	0.577000													38	34					0	0	0.006230	0	0
EVC2	132884	broad.mit.edu	37	4	5642297	5642297	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:5642297T>A	ENST00000310917.2	-	10	1905	c.1174A>T	c.(1174-1176)Aga>Tga	p.R392*	EVC2_ENST00000344408.5_Nonsense_Mutation_p.R472*|EVC2_ENST00000344938.1_Nonsense_Mutation_p.R472*	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	472						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						ATCATCTCTCTCTGGTACTGG	0.468000													136	49					0	0	0.003610	0	0
KCNC2	3747	broad.mit.edu	37	12	75601539	75601539	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:75601539G>T	ENST00000549446.1	-	2	905	c.225C>A	c.(223-225)ggC>ggA	p.G75G	KCNC2_ENST00000550433.1_Silent_p.G75G|KCNC2_ENST00000341669.3_Silent_p.G75G|KCNC2_ENST00000540018.1_Silent_p.G75G|KCNC2_ENST00000350228.2_Silent_p.G75G|KCNC2_ENST00000298972.1_Silent_p.G75G|KCNC2_ENST00000393288.2_Silent_p.G75G|KCNC2_ENST00000548513.1_Silent_p.G75G	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	75	Gly/Pro-rich (insert).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CGAAGCAGCCGCCTGGCCCGg	0.766000													8	15					5.18039e-06	6.04459e-06	0.003080	1	0
PSG4	5672	broad.mit.edu	37	19	43702373	43702373	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:43702373A>G	ENST00000405312.3	-	3	722	c.485T>C	c.(484-486)aTg>aCg	p.M162T	PSG4_ENST00000244295.9_Missense_Mutation_p.M162T|PSG4_ENST00000433626.2_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	162	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CACAGCCTCCATGGCCTCCCT	0.542000													111	45					0	0	0.003610	0	0
OR4L1	122742	broad.mit.edu	37	14	20529045	20529045	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr14:20529045T>C	ENST00000315683.1	+	1	842	c.842T>C	c.(841-843)tTa>tCa	p.L281S		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		ATCACACCCTTACTGAATCCG	0.353000													9	21					0	0	0.001368	0	0
TPO	7173	broad.mit.edu	37	2	1457524	1457524	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:1457524T>C	ENST00000345913.4	+	6	632	c.541T>C	c.(541-543)Tat>Cat	p.Y181H	TPO_ENST00000382198.1_Missense_Mutation_p.Y181H|TPO_ENST00000329066.4_Missense_Mutation_p.Y181H|TPO_ENST00000337415.3_Missense_Mutation_p.Y181H|TPO_ENST00000382201.3_Missense_Mutation_p.Y181H|TPO_ENST00000346956.3_Missense_Mutation_p.Y181H|TPO_ENST00000349624.3_Missense_Mutation_p.Y181H|TPO_ENST00000497517.2_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	181					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)	CCCTCCAGTCTATGAGGACGG	0.602000													57	41					0	0	0.003610	0	0
CRB1	23418	broad.mit.edu	37	1	197390502	197390502	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:197390502A>T	ENST00000367400.3	+	6	1679	c.1544A>T	c.(1543-1545)cAg>cTg	p.Q515L	CRB1_ENST00000367399.2_Missense_Mutation_p.Q403L|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000543483.1_Missense_Mutation_p.Q214L|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000535699.1_Missense_Mutation_p.Q446L|CRB1_ENST00000538660.1_Missense_Mutation_p.Q515L|CRB1_ENST00000367397.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	515	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTCAGGTTTCAGACTGTTCAG	0.478000													33	50					0	0	0.012213	0	0
CACNA1E	777	broad.mit.edu	37	1	181765968	181765968	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:181765968G>T	ENST00000526775.1	+	45	6352	c.6187G>T	c.(6187-6189)Ggc>Tgc	p.G2063C	CACNA1E_ENST00000367567.4_Missense_Mutation_p.G1689C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G2125C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G2082C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G2076C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G2014C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G2106C	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2125					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACCCAGTGAGGGCAGGTCACA	0.587000													3	8					0.004672	0.00490305	0.004672	1	0
CHST2	9435	broad.mit.edu	37	3	142840050	142840050	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:142840050C>G	ENST00000309575.3	+	2	1776	c.392C>G	c.(391-393)gCc>gGc	p.A131G		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	131					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CCTCCCGCTGCCGCCGTCGGG	0.786000													7	3					0	0	0.010729	0	0
ADRA1D	146	broad.mit.edu	37	20	4228916	4228916	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr20:4228916C>A	ENST00000379453.4	-	1	805	c.689G>T	c.(688-690)gGg>gTg	p.G230V		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	230					cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	CAGCAGGGGCCCTACGGACAC	0.677000													4	9					0.00909568	0.0094583	0.009096	1	0
COL2A1	1280	broad.mit.edu	37	12	48367957	48367957	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:48367957A>G	ENST00000380518.3	-	53	4396	c.4232T>C	c.(4231-4233)cTg>cCg	p.L1411P	COL2A1_ENST00000337299.6_Missense_Mutation_p.L1342P|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1411	Fibrillar collagen NC1.				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)	CTGGATGAGCAGGGCCTTCTT	0.592000													11	73					0	0	0.010729	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496662	20496662	+	RNA	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr15:20496662G>T	ENST00000555186.1	+	0	715					NR_038836.1																						CAAAGCGCCCGGCTGTGTGTG	0.438000													5	22					0.00116845	0.00124079	0.001168	1	0
ARHGAP36	158763	broad.mit.edu	37	X	130217883	130217883	+	Missense_Mutation	SNP	T	T	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chrX:130217883T>G	ENST00000276211.5	+	4	840	c.495T>G	c.(493-495)ttT>ttG	p.F165L	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.F29L|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.F153L	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	165	Arg-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TCCGGCGCTTTTTCAGTCGCA	0.632000													45	17					0	0	0.009718	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128846491	128846491	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:128846491C>A	ENST00000310343.9	-	19	2118	c.2119G>T	c.(2119-2121)Gag>Tag	p.E707*	ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.E358*|ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.E358*|ARHGAP32_ENST00000524655.1_Nonsense_Mutation_p.E633*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	707					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						AGAGACTCCTCACTTTTAGCT	0.363000													29	23					2.08457e-15	3.18278e-15	0.010818	1	0
MICAL3	57553	broad.mit.edu	37	22	18300793	18300793	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr22:18300793G>T	ENST00000441493.2	-	26	4986	c.4634C>A	c.(4633-4635)aCg>aAg	p.T1545K		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1545						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGACGGGGGCGTGAAGAATTT	0.627000													13	25					1.5842e-08	2.00954e-08	0.001855	1	0
KCNJ2	3759	broad.mit.edu	37	17	68171798	68171798	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:68171798C>A	ENST00000243457.3	+	2	1001	c.618C>A	c.(616-618)ggC>ggA	p.G206G	KCNJ2_ENST00000535240.1_Silent_p.G206G	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	206					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					TGAGAGACGGCAAGCTGTGTT	0.488000													14	47					5.01169e-05	5.59736e-05	0.004990	1	0
COL5A1	1289	broad.mit.edu	37	9	137704345	137704345	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr9:137704345G>T	ENST00000371817.3	+	47	4155	c.3741G>T	c.(3739-3741)caG>caT	p.Q1247H		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1247	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACGTGGGCCAGATGGTAAGTG	0.537000													34	17					2.51541e-25	4.49257e-25	0.004878	1	0
SEMA3D	223117	broad.mit.edu	37	7	84636136	84636136	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:84636136C>A	ENST00000284136.6	-	16	1933	c.1890G>T	c.(1888-1890)ggG>ggT	p.G630G	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	630	Ig-like C2-type.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						GATGCTCATCCCCTGACCTCT	0.373000													57	46					3.30712e-30	6.13409e-30	0.003610	1	0
KIAA0226	9711	broad.mit.edu	37	3	197402066	197402066	+	Splice_Site	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:197402066C>A	ENST00000273582.5	-	21	3152	c.2605_splice	c.e21-1	p.E869_splice	KIAA0226_ENST00000296343.5_Splice_Site_p.E914_splice	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	914					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		ACGCTTTACACTCTACTCAGG	0.582000													14	35					0.00185496	0.00196481	0.001855	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110539098	110539098	+	Silent	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:110539098T>C	ENST00000378402.5	+	77	12674	c.12570T>C	c.(12568-12570)tcT>tcC	p.S4190S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4190	Poly-Ser.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTCTGTCTCTagcagtggca	0.418000										HNSCC(38;0.096)			8	15					0	0	0.003080	0	0
CDH10	1008	broad.mit.edu	37	5	24535924	24535924	+	Silent	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:24535924A>T	ENST00000264463.4	-	4	1041	c.534T>A	c.(532-534)tcT>tcA	p.S178S		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	178	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S178S(1)		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)		CTTGCACCACAGAAGTACCTG	0.458000										HNSCC(23;0.051)			15	53					0	0	0.003163	0	0
ANO4	121601	broad.mit.edu	37	12	101436247	101436247	+	Splice_Site	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:101436247G>T	ENST00000392979.3	+	11	1410		c.e11+1		ANO4_ENST00000299222.9_Splice_Site|ANO4_ENST00000392977.3_Splice_Site	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4							chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GCCAAGTCAGGTACGGGGAGC	0.488000										HNSCC(74;0.22)			48	56					3.73128e-16	5.83946e-16	0.003610	1	0
POLE	5426	broad.mit.edu	37	12	133226046	133226046	+	Missense_Mutation	SNP	C	C	A	rs149462407	byFrequency	TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:133226046C>A	ENST00000320574.5	-	31	3894	c.3851G>T	c.(3850-3852)cGg>cTg	p.R1284L	POLE_ENST00000535270.1_Missense_Mutation_p.R1257L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1284					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GAGGCGCTGCCGGGCCTGCAG	0.667000								DNA polymerases (catalytic subunits)					46	28					2.43468e-25	4.3546e-25	0.003610	1	0
PCK1	5105	broad.mit.edu	37	20	56139388	56139388	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr20:56139388G>T	ENST00000319441.4	+	7	1289	c.1125G>T	c.(1123-1125)gaG>gaT	p.E375D	PCK1_ENST00000543666.1_Missense_Mutation_p.E58D|PCK1_ENST00000535860.1_Missense_Mutation_p.E243D	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	375					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GCATTGATGAGCCGCTAGCTT	0.562000													26	28					3.7963e-18	6.18072e-18	0.003330	1	0
XIRP2	129446	broad.mit.edu	37	2	167760382	167760382	+	Silent	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:167760382A>T	ENST00000409195.1	+	2	479	c.390A>T	c.(388-390)ccA>ccT	p.P130P	XIRP2_ENST00000409756.2_Silent_p.P130P|XIRP2_ENST00000295237.9_Silent_p.P130P|XIRP2_ENST00000409043.1_Silent_p.P130P|XIRP2_ENST00000420519.1_Silent_p.P130P|XIRP2_ENST00000409728.1_Silent_p.P130P	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					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						GAAACAAACCAGCTGAGTACG	0.458000													13	55					0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179444017	179444017	+	Silent	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:179444017T>C	ENST00000589042.1	-	320	67964	c.67740A>G	c.(67738-67740)ccA>ccG	p.P22580P	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.P13640P|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.P20012P|TTN_ENST00000342175.6_Silent_p.P13707P|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Silent_p.P13515P|TTN_ENST00000591111.1_Silent_p.P20939P|RP11-171I2.2_ENST00000603521.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20939							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)			AGGAGACTGATGGAGCTGGCT	0.458000													23	63					0	0	0.003954	0	0
TMEM132E	124842	broad.mit.edu	37	17	32953473	32953473	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:32953473G>T	ENST00000321639.5	+	2	723	c.395G>T	c.(394-396)cGc>cTc	p.R132L		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	132						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TTCATCGTCCGCTCGCACGTG	0.701000													9	14					7.48243e-07	9.04247e-07	0.006214	1	0
ADGRG6	57211	broad.mit.edu	37	6	142759436	142759436	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:142759436C>T	ENST00000230173.6	+	24	3985	c.3509C>T	c.(3508-3510)tCa>tTa	p.S1170L	GPR126_ENST00000367608.2_Missense_Mutation_p.S1142L|GPR126_ENST00000296932.8_Missense_Mutation_p.S1142L|GPR126_ENST00000367609.3_Missense_Mutation_p.S1170L	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	1170	Ser-rich.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GGTTCCAACTCAACCTATCTT	0.358000													11	2					0	0	0.001368	0	0
TMEM145	284339	broad.mit.edu	37	19	42821921	42821921	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:42821921G>T	ENST00000598766.1	+	12	1033	c.1033G>T	c.(1033-1035)Gga>Tga	p.G345*	TMEM145_ENST00000301204.3_Nonsense_Mutation_p.G321*			Q8NBT3	TM145_HUMAN	transmembrane protein 145	321						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CGGGCTCATTGGACTGCAGGT	0.577000													28	10					4.87955e-14	7.17885e-14	0.005443	1	0
CASS4	57091	broad.mit.edu	37	20	55025690	55025690	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr20:55025690C>A	ENST00000371336.3	+	4	798	c.597C>A	c.(595-597)gcC>gcA	p.A199A	CASS4_ENST00000434344.1_Silent_p.A199A|CASS4_ENST00000360314.3_Silent_p.A199A	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	199					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						ACATACCAGCCAGCCCCAAGA	0.488000													12	24					0.000151284	0.000166293	0.001855	1	0
RIMBP2	23504	broad.mit.edu	37	12	130963550	130963550	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:130963550C>T	ENST00000261655.4	-	3	172	c.9G>A	c.(7-9)gaG>gaA	p.E3E	RIMBP2_ENST00000536002.1_5'UTR|RIMBP2_ENST00000535703.1_5'UTR	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	3						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GTTCAGCCGCCTCTCGCATAT	0.612000													45	28					0	0	0.003610	0	0
TBC1D4	9882	broad.mit.edu	37	13	75863090	75863090	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr13:75863090C>A	ENST00000377636.3	-	20	3989	c.3643G>T	c.(3643-3645)Gac>Tac	p.D1215Y	TBC1D4_ENST00000377625.2_Missense_Mutation_p.D1152Y|TBC1D4_ENST00000425511.1_Missense_Mutation_p.D379Y|TBC1D4_ENST00000431480.2_Missense_Mutation_p.D1207Y	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1215						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TCTAGGAGGTCCATGTTTTGT	0.408000													11	26					0.000151284	0.000166293	0.001855	1	0
ZIC3	7547	broad.mit.edu	37	X	136648931	136648931	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chrX:136648931G>T	ENST00000287538.5	+	1	631	c.81G>T	c.(79-81)atG>atT	p.M27I	ZIC3_ENST00000370606.3_Missense_Mutation_p.M27I	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	27					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					ACCACGAGATGCCCAACCGTG	0.721000													5	1					0.000602214	0.000646077	0.000602	1	0
FAM117A	81558	broad.mit.edu	37	17	47788741	47788741	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:47788741C>T	ENST00000240364.2	-	8	1317	c.1238G>A	c.(1237-1239)aGc>aAc	p.S413N	RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000513602.1_Missense_Mutation_p.S141N	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	413	Pro-rich.									haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						TGGCCTGGGGCTGGCCGGGGG	0.647000													12	21					0	0	0.003163	0	0
DNAH3	55567	broad.mit.edu	37	16	21078605	21078605	+	Splice_Site	SNP	T	T	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr16:21078605T>G	ENST00000261383.3	-	24	3516	c.3518_splice	c.e24+1	p.R1173_splice	DNAH3_ENST00000415178.1_Splice_Site_p.R1173_splice	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1173	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCTGGATACCTGGGGAAGAAT	0.423000													20	26					0	0	0.008871	0	0
CCDC27	148870	broad.mit.edu	37	1	3669273	3669273	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:3669273G>T	ENST00000294600.2	+	1	312	c.228G>T	c.(226-228)cgG>cgT	p.R76R		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	76										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TGGCCAGCCGGGACGCCCGGT	0.622000													18	60					1.2644e-06	1.52085e-06	0.010504	1	0
DNAH3	55567	broad.mit.edu	37	16	20981275	20981275	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr16:20981275G>A	ENST00000261383.3	-	52	8296	c.8297C>T	c.(8296-8298)gCa>gTa	p.A2766V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2766	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGCCTCGAGTGCAGGCATTGC	0.607000													23	79					0	0	0.003954	0	0
CAPN10	11132	broad.mit.edu	37	2	241533437	241533437	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:241533437G>T	ENST00000391984.2	+	5	999	c.803G>T	c.(802-804)cGg>cTg	p.R268L	CAPN10_ENST00000354082.4_Missense_Mutation_p.R268L|CAPN10_ENST00000391982.2_Missense_Mutation_p.R268L|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Missense_Mutation_p.R268L	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	268	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TGGGGCCGGCGGTGCTGGCAG	0.687000													23	74					3.62473e-10	4.77702e-10	0.012319	1	0
EPHA3	2042	broad.mit.edu	37	3	89391031	89391031	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:89391031G>T	ENST00000336596.2	+	5	1322	c.1097G>T	c.(1096-1098)tGt>tTt	p.C366F	EPHA3_ENST00000494014.1_Missense_Mutation_p.C366F|EPHA3_ENST00000452448.2_Missense_Mutation_p.C366F	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	366	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGTAAAAAATGTGGGTGGAAT	0.478000										TSP Lung(6;0.00050)			19	33					2.39187e-15	3.6431e-15	0.008871	1	0
THSD7B	80731	broad.mit.edu	37	2	138033543	138033543	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:138033543G>T	ENST00000409968.1	+	12	2625	c.2447G>T	c.(2446-2448)tGg>tTg	p.W816L	THSD7B_ENST00000272643.3_Missense_Mutation_p.W816L|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.W785L					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAGTCTGTCTGGCAGGGAATA	0.413000													8	22					3.86212e-05	4.32502e-05	0.008291	1	0
PHIP	55023	broad.mit.edu	37	6	79695070	79695070	+	Splice_Site	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:79695070T>A	ENST00000275034.4	-	22	2703	c.2537_splice	c.e22+1	p.S846_splice		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	846					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TTCATTTACCTAGAACTGCCA	0.363000													13	30					0	0	0.002450	0	0
FGL1	2267	broad.mit.edu	37	8	17731968	17731968	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:17731968G>T	ENST00000398056.2	-	6	1122	c.307C>A	c.(307-309)Cag>Aag	p.Q103K	FGL1_ENST00000518650.1_Missense_Mutation_p.Q103K|FGL1_ENST00000381841.2_Missense_Mutation_p.Q103K|FGL1_ENST00000522444.1_Missense_Mutation_p.Q103K|FGL1_ENST00000427924.1_Missense_Mutation_p.Q103K|FGL1_ENST00000398054.1_Missense_Mutation_p.Q103K|FGL1_ENST00000381840.2_Missense_Mutation_p.Q103K			Q08830	FGL1_HUMAN	fibrinogen-like 1	103	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		GCTGGGCTCTGGAGAGGTTTG	0.378000													57	16					3.84483e-29	7.07902e-29	0.003610	1	0
EFR3A	23167	broad.mit.edu	37	8	132957094	132957094	+	Silent	SNP	A	A	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:132957094A>C	ENST00000254624.5	+	3	415	c.190A>C	c.(190-192)Agg>Cgg	p.R64R	EFR3A_ENST00000519656.1_Silent_p.R28R|EFR3A_ENST00000334503.4_Silent_p.R64R	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	64						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			AAGGTTGAGCAGGGATGTTGT	0.373000													5	31					0	0	0.001168	0	0
DPPA2	151871	broad.mit.edu	37	3	109019251	109019251	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:109019251C>T	ENST00000478945.1	-	8	1132	c.886G>A	c.(886-888)Gta>Ata	p.V296I		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	296						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TACTTCTCTACTGTCATTAAT	0.348000													18	108					0	0	0.002780	0	0
TTN	7273	broad.mit.edu	37	2	179439643	179439643	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:179439643A>G	ENST00000589042.1	-	326	71440	c.71216T>C	c.(71215-71217)gTt>gCt	p.V23739A	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V14799A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V21171A|TTN_ENST00000342175.6_Missense_Mutation_p.V14866A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V14674A|TTN_ENST00000591111.1_Missense_Mutation_p.V22098A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22098	Fibronectin type-III 72.						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)			ATCAGATGAAACTTCATCAAA	0.443000													10	25					0	0	0.008291	0	0
TENM2	57451	broad.mit.edu	37	5	167643927	167643927	+	Splice_Site	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:167643927G>T	ENST00000519204.1	+	21	3988	c.3870_splice	c.e21+1	p.Q1290_splice	TENM2_ENST00000403607.2_Splice_Site_p.Q1235_splice|TENM2_ENST00000545108.1_Splice_Site_p.Q1410_splice|TENM2_ENST00000518659.1_Splice_Site_p.Q1411_splice|TENM2_ENST00000520394.1_Splice_Site_p.Q1172_splice					teneurin transmembrane protein 2																		ATGTAGCCCAGGTGAGACTCT	0.532000													30	10					3.03874e-20	5.07944e-20	0.003271	1	0
DLG1	1739	broad.mit.edu	37	3	196812495	196812495	+	Silent	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:196812495T>A	ENST00000346964.2	-	17	2082	c.1893A>T	c.(1891-1893)ccA>ccT	p.P631P	DLG1_ENST00000452595.1_Silent_p.P515P|DLG1_ENST00000450955.1_Silent_p.P598P|DLG1_ENST00000448528.2_Silent_p.P631P|DLG1_ENST00000443183.1_Silent_p.P515P|DLG1_ENST00000422288.1_Silent_p.P580P|DLG1_ENST00000392382.2_Silent_p.P598P|DLG1_ENST00000357674.4_Silent_p.P598P|DLG1_ENST00000314062.3_Silent_p.P580P|DLG1_ENST00000419354.1_Silent_p.P631P	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	631	SH3.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TCTCACCATCTGGTGTAACCT	0.448000													34	36					0	0	0.003271	0	0
SERPINB2	5055	broad.mit.edu	37	18	61564427	61564427	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr18:61564427G>T	ENST00000457692.1	+	5	724	c.391G>T	c.(391-393)Ggt>Tgt	p.G131C	SERPINB2_ENST00000299502.4_Missense_Mutation_p.G131C|SERPINB2_ENST00000482254.1_3'UTR	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	131					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)	TAAGCTGTTTGGTGAGAAGTC	0.423000													38	10					3.62531e-18	5.91001e-18	0.004289	1	0
CFH	3075	broad.mit.edu	37	1	196643001	196643001	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:196643001C>G	ENST00000367429.4	+	3	499	c.259C>G	c.(259-261)Cat>Gat	p.H87D	CFH_ENST00000439155.2_Missense_Mutation_p.H87D|CFH_ENST00000359637.2_Missense_Mutation_p.H87D	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	87	Sushi 2.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GCCCTGTGGACATCCTGGAGA	0.348000													13	66					0	0	0.002450	0	0
KDM4E	390245	broad.mit.edu	37	11	94759534	94759534	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:94759534C>T	ENST00000450979.2	+	1	1113	c.813C>T	c.(811-813)acC>acT	p.T271T		NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN	lysine (K)-specific demethylase 4E	271	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						TCATGGTGACCTTTCCCTATG	0.502000													11	33					0	0	0.010729	0	0
EPHB1	2047	broad.mit.edu	37	3	134911548	134911548	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:134911548C>G	ENST00000398015.3	+	11	2383	c.2013C>G	c.(2011-2013)atC>atG	p.I671M	EPHB1_ENST00000493838.1_Missense_Mutation_p.I232M	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	671	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			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						AGGCGAGCATCATGGGCCAGT	0.542000													10	33					0	0	0.001368	0	0
CACNA2D1	781	broad.mit.edu	37	7	81693628	81693628	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:81693628C>A	ENST00000356860.3	-	9	1109	c.771G>T	c.(769-771)ctG>ctT	p.L257L	CACNA2D1_ENST00000423588.1_Silent_p.L257L|CACNA2D1_ENST00000356253.5_Silent_p.L257L	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	257	VWFA.					voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	ACACATCCACCAGAATAAGCA	0.328000													9	7					3.86212e-05	4.32502e-05	0.008291	1	0
BOD1L1	259282	broad.mit.edu	37	4	13603773	13603773	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:13603773G>A	ENST00000040738.5	-	10	4886	c.4751C>T	c.(4750-4752)aCt>aTt	p.T1584I		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1584							DNA binding										AGCAAAAACAGTGCATTCACT	0.483000													10	26					0	0	0.008291	0	0
CLPB	81570	broad.mit.edu	37	11	72012963	72012963	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:72012963C>A	ENST00000294053.3	-	12	1476	c.1303G>T	c.(1303-1305)Gag>Tag	p.E435*	CLPB_ENST00000538021.1_Nonsense_Mutation_p.E43*|CLPB_ENST00000340729.5_Nonsense_Mutation_p.E376*|CLPB_ENST00000543042.1_Nonsense_Mutation_p.E234*|CLPB_ENST00000437826.2_Nonsense_Mutation_p.E390*|CLPB_ENST00000538039.1_Nonsense_Mutation_p.E405*	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	435					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TGGCCACCCTCCTCATGGCCA	0.512000													59	77					2.44813e-32	4.5953e-32	0.003610	1	0
RASGRP2	10235	broad.mit.edu	37	11	64503016	64503016	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:64503016C>G	ENST00000377494.1	-	10	2216	c.1294G>C	c.(1294-1296)Gag>Cag	p.E432Q	RASGRP2_ENST00000394432.3_Missense_Mutation_p.E432Q|RASGRP2_ENST00000354024.3_Missense_Mutation_p.E432Q|RASGRP2_ENST00000377497.3_Missense_Mutation_p.E432Q			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	432	EF-hand 1.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAGCTCACCTCCACCATCTTC	0.647000													27	31					0	0	0.008361	0	0
PTPRF	5792	broad.mit.edu	37	1	44086827	44086827	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:44086827G>T	ENST00000359947.4	+	33	5919	c.5579G>T	c.(5578-5580)cGc>cTc	p.R1860L	PTPRF_ENST00000422171.2_Missense_Mutation_p.R1219L|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1851L|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1851L|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1860L|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1860	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGCGCATGCGCTACGAGGGC	0.617000													157	17					1.01513e-63	2.03027e-63	0.003610	1	0
DCST1	149095	broad.mit.edu	37	1	155019788	155019788	+	Splice_Site	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:155019788C>A	ENST00000295542.1	+	14	1708	c.1612_splice	c.e14+1	p.P538_splice	DCST1_ENST00000368419.2_Splice_Site_p.P538_splice|DCST1_ENST00000392480.1_Splice_Site_p.P538_splice|DCST1_ENST00000423025.2_Splice_Site_p.P513_splice	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	538						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)			AAACAACATGCGTGAGTGATG	0.547000													27	42					7.41945e-09	9.45942e-09	0.005443	1	0
PHLDB2	90102	broad.mit.edu	37	3	111603476	111603476	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:111603476C>T	ENST00000431670.2	+	2	963	c.552C>T	c.(550-552)tcC>tcT	p.S184S	PHLDB2_ENST00000393925.3_Silent_p.S184S|PHLDB2_ENST00000393923.3_Silent_p.S211S|PHLDB2_ENST00000481953.1_Silent_p.S184S|PHLDB2_ENST00000412622.1_Silent_p.S184S|PHLDB2_ENST00000477695.1_Silent_p.S184S|PHLDB2_ENST00000478922.1_Silent_p.S184S	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	184						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						ATGGAAGTTCCCTGAGTGATG	0.552000													28	56					0	0	0.005443	0	0
RBM24	221662	broad.mit.edu	37	6	17292138	17292138	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:17292138G>A	ENST00000379052.5	+	4	735	c.499G>A	c.(499-501)Gcc>Acc	p.A167T	RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000318204.5_Missense_Mutation_p.A122T|RBM24_ENST00000425446.2_Missense_Mutation_p.A109T	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	167	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			tgctgctgctgccgccgccgc	0.602000													15	27					0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179592014	179592014	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:179592014C>T	ENST00000589042.1	-	69	20302	c.20078G>A	c.(20077-20079)gGa>gAa	p.G6693E	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G5449E|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G6376E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6376	Ig-like 48.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G5449V(1)		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)			TTCTGGGGATCCAGCTATCTT	0.418000													10	33					0	0	0.008291	0	0
FGFR4	2264	broad.mit.edu	37	5	176517421	176517421	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:176517421A>T	ENST00000292408.4	+	3	367	c.122A>T	c.(121-123)cAa>cTa	p.Q41L	FGFR4_ENST00000393648.2_Missense_Mutation_p.Q41L|FGFR4_ENST00000393637.1_Missense_Mutation_p.Q41L|FGFR4_ENST00000292410.3_Missense_Mutation_p.Q41L|FGFR4_ENST00000507708.1_3'UTR|FGFR4_ENST00000502906.1_Missense_Mutation_p.Q41L	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	41	Ig-like C2-type 1.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	CTGGAGCAGCAAGAGCAGGAG	0.657000										TSP Lung(9;0.080)			23	7					0	0	0.002299	0	0
EPHA3	2042	broad.mit.edu	37	3	89391033	89391033	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:89391033G>T	ENST00000336596.2	+	5	1324	c.1099G>T	c.(1099-1101)Ggg>Tgg	p.G367W	EPHA3_ENST00000494014.1_Missense_Mutation_p.G367W|EPHA3_ENST00000452448.2_Missense_Mutation_p.G367W	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	367	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TAAAAAATGTGGGTGGAATAT	0.483000										TSP Lung(6;0.00050)			19	33					2.39187e-15	3.6431e-15	0.008871	1	0
NUMBL	9253	broad.mit.edu	37	19	41179275	41179275	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:41179275C>T	ENST00000252891.4	-	8	1177	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	NUMBL_ENST00000540131.1_Missense_Mutation_p.R296H|NUMBL_ENST00000598779.1_Missense_Mutation_p.R296H	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	337					cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			GAAGTCAGTGCGGCGCTGCAG	0.607000													9	13					0	0	0.001855	0	0
LYAR	55646	broad.mit.edu	37	4	4276138	4276138	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:4276138T>A	ENST00000343470.4	-	7	1028	c.788A>T	c.(787-789)gAg>gTg	p.E263V	LYAR_ENST00000452476.1_Missense_Mutation_p.E263V	NM_017816.2	NP_060286.1	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	263	Lys-rich.					nucleolus	metal ion binding|protein binding			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CACGTGTGCCTCTTCCTCACT	0.582000													92	141					0	0	0.003610	0	0
TTC8	123016	broad.mit.edu	37	14	89337958	89337958	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr14:89337958A>G	ENST00000338104.6	+	12	1215	c.1163A>G	c.(1162-1164)tAt>tGt	p.Y388C	TTC8_ENST00000536576.1_Missense_Mutation_p.Y133C|TTC8_ENST00000358622.5_Missense_Mutation_p.Y174C|TTC8_ENST00000380656.2_Missense_Mutation_p.Y372C|TTC8_ENST00000354441.6_Missense_Mutation_p.Y107C|TTC8_ENST00000345383.5_Missense_Mutation_p.Y362C|TTC8_ENST00000346301.4_Missense_Mutation_p.Y332C			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	398					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGTTGCTTCTATGCCCAGCAG	0.448000													11	38					0	0	0.010729	0	0
TTN	7273	broad.mit.edu	37	2	179429977	179429977	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:179429977G>T	ENST00000589042.1	-	326	81106	c.80882C>A	c.(80881-80883)gCa>gAa	p.A26961E	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A18021E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A24393E|TTN_ENST00000342175.6_Missense_Mutation_p.A18088E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A17896E|TTN_ENST00000591111.1_Missense_Mutation_p.A25320E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25320	Fibronectin type-III 96.						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)			ATTTTCTGTTGCTGTGCCTGC	0.413000													29	99					2.12542e-12	2.98991e-12	0.006320	1	0
OR4A5	81318	broad.mit.edu	37	11	51412250	51412250	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:51412250G>T	ENST00000319760.6	-	1	198	c.146C>A	c.(145-147)gCc>gAc	p.A49D		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	49				IA -> FS (in Ref. 1; BAC05754).	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GGAAGGGCTGGCAATAATATC	0.438000													13	33					9.31168e-06	1.07251e-05	0.001855	1	0
SLC4A3	6508	broad.mit.edu	37	2	220497732	220497732	+	Splice_Site	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:220497732G>T	ENST00000358055.3	+	9	1789		c.e9+1		SLC4A3_ENST00000373762.3_Splice_Site|SLC4A3_ENST00000273063.6_Splice_Site|SLC4A3_ENST00000373760.2_Splice_Site|SLC4A3_ENST00000317151.3_Splice_Site			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3						bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAAGCACAGGTGCCGGGGTG	0.622000													28	17					1.75199e-13	2.52706e-13	0.007291	1	0
NFKBIZ	64332	broad.mit.edu	37	3	101573503	101573503	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:101573503G>T	ENST00000326172.5	+	6	1534	c.1419G>T	c.(1417-1419)ctG>ctT	p.L473L	NFKBIZ_ENST00000394054.2_Silent_p.L373L|NFKBIZ_ENST00000326151.5_Silent_p.L351L	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	473	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						TTCACATGCTGGATATTAAAG	0.463000													8	57					0.000157383	0.000171941	0.003080	1	0
APOB	338	broad.mit.edu	37	2	21230991	21230991	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:21230991C>T	ENST00000233242.1	-	26	8876	c.8749G>A	c.(8749-8751)Ggc>Agc	p.G2917S		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2917					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCTATGTGGCCAGCTTTCAAC	0.458000													34	108					0	0	0.003755	0	0
SYT4	6860	broad.mit.edu	37	18	40850516	40850516	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr18:40850516C>A	ENST00000255224.3	-	4	1436	c.1068G>T	c.(1066-1068)gaG>gaT	p.E356D	SYT4_ENST00000586678.1_5'UTR|SYT4_ENST00000590752.1_Missense_Mutation_p.E338D	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	356	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						AGACAAACAGCTCATTGAACA	0.428000													34	34					8.16721e-17	1.28945e-16	0.010818	1	0
TBL2	26608	broad.mit.edu	37	7	72984917	72984917	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:72984917C>A	ENST00000305632.5	-	7	1505	c.1264G>T	c.(1264-1266)Gag>Tag	p.E422*	TBL2_ENST00000432538.1_Nonsense_Mutation_p.E386*|TBL2_ENST00000459913.1_5'UTR	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	422										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				CGGGTGCTCTCGTTGGAGGCC	0.677000													7	9					2.0095e-06	2.38926e-06	0.001984	1	0
GMPS	8833	broad.mit.edu	37	3	155611422	155611422	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:155611422T>A	ENST00000496455.1	+	2	478	c.143T>A	c.(142-144)cTg>cAg	p.L48Q	GMPS_ENST00000295920.7_Intron	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	48	Glutamine amidotransferase type-1.				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GTGAGGGAACTGTTCGTGCAG	0.458000			T	MLL	AML								15	10					0	0	0.002450	0	0
TNFRSF4	7293	broad.mit.edu	37	1	1147325	1147325	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:1147325C>A	ENST00000379236.3	-	5	635	c.631G>T	c.(631-633)Ggg>Tgg	p.G211W		NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	211					immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCCTTACCCCCGGGGACCTCC	0.736000													12	5					5.50884e-06	6.38617e-06	0.001368	1	0
GAL3ST3	89792	broad.mit.edu	37	11	65812812	65812812	+	Silent	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:65812812T>A	ENST00000312006.4	-	2	356	c.75A>T	c.(73-75)ctA>ctT	p.L25L	GAL3ST3_ENST00000527878.1_Silent_p.L25L	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	25					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						TGCTGCACCCTAGCACCAGCA	0.677000											OREG0021093	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	14					0	0	0.006214	0	0
MST1	4485	broad.mit.edu	37	3	49721622	49721622	+	Splice_Site	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:49721622C>T	ENST00000449682.2	-	18	2378	c.2016_splice	c.e18-1	p.G673_splice		NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	659	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCGTAGTCACCCTGGCAGGTA	0.567000													4	20					0	0	0.006122	0	0
KIAA2018	205717	broad.mit.edu	37	3	113378522	113378522	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:113378522C>T	ENST00000316407.4	-	7	2417	c.2007G>A	c.(2005-2007)caG>caA	p.Q669Q	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Silent_p.Q669Q	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	669					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AAGCAAAGAGCTGTCCATTTA	0.398000													31	69					0	0	0.009535	0	0
GREB1	9687	broad.mit.edu	37	2	11696778	11696778	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:11696778G>C	ENST00000381486.2	+	2	338	c.38G>C	c.(37-39)cGc>cCc	p.R13P	GREB1_ENST00000263834.5_Missense_Mutation_p.R13P|GREB1_ENST00000381483.2_Missense_Mutation_p.R13P|GREB1_ENST00000389825.3_Intron|GREB1_ENST00000234142.5_Missense_Mutation_p.R13P	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	13						integral to membrane		p.R13H(3)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AAGACGACACGCTTTGAAGAG	0.517000													14	87					0	0	0.001855	0	0
ENDOU	8909	broad.mit.edu	37	12	48107062	48107062	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:48107062G>T	ENST00000422538.3	-	7	983	c.861C>A	c.(859-861)ttC>ttA	p.F287L	ENDOU_ENST00000542202.1_Missense_Mutation_p.F53L|ENDOU_ENST00000545824.2_Missense_Mutation_p.F224L|RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000229003.3_Missense_Mutation_p.F246L	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN	endonuclease, polyU-specific	287					female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity	p.F246L(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						TCCCACCTGAGAAGACATGTT	0.498000													39	68					1.15505e-17	1.86356e-17	0.009718	1	0
EVX2	344191	broad.mit.edu	37	2	176945402	176945402	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:176945402C>T	ENST00000308618.4	-	3	1000	c.864G>A	c.(862-864)ccG>ccA	p.P288P		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	288						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CGCCCACGTGCGGGTAGTAGT	0.711000													15	20					0	0	0.002450	0	0
NNT	23530	broad.mit.edu	37	5	43675653	43675653	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:43675653A>G	ENST00000264663.5	+	18	2896	c.2675A>G	c.(2674-2676)tAt>tGt	p.Y892C	NNT_ENST00000512996.2_Missense_Mutation_p.Y761C|NNT_ENST00000344920.4_Missense_Mutation_p.Y892C	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	892					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)	CTTGGAGGCTATGGCACCACT	0.418000													9	52					0	0	0.006214	0	0
SLC8A1	6546	broad.mit.edu	37	2	40366666	40366666	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:40366666G>T	ENST00000406785.1	-	7	2501	c.2312C>A	c.(2311-2313)tCc>tAc	p.S771Y	SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.S802Y|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000406391.2_Missense_Mutation_p.S771Y|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.S771Y|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000542024.1_Missense_Mutation_p.S771Y|SLC8A1_ENST00000405901.3_Missense_Mutation_p.S802Y|SLC8A1_ENST00000403092.1_Missense_Mutation_p.S807Y|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.S771Y|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.S807Y|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.S799Y|SLC8A1-AS1_ENST00000444629.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	807					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CATGAGGATGGAGACAATGAA	0.502000													31	24					8.58068e-18	1.3862e-17	0.007291	1	0
GEN1	348654	broad.mit.edu	37	2	17963153	17963153	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:17963153G>T	ENST00000381254.2	+	14	2888	c.2674G>T	c.(2674-2676)Gat>Tat	p.D892Y	GEN1_ENST00000317402.7_Missense_Mutation_p.D892Y|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	892					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TACTTGTTTGGATAGCCCTCT	0.338000								Homologous recombination					16	33					2.23348e-06	2.64553e-06	0.004007	1	0
RAD51AP1	10635	broad.mit.edu	37	12	4662196	4662196	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:4662196G>A	ENST00000228843.9	+	8	705	c.655G>A	c.(655-657)Gac>Aac	p.D219N	RAD51AP1_ENST00000321524.7_Missense_Mutation_p.D219N|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.D84N|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.D202N|RAD51AP1_ENST00000544927.1_Missense_Mutation_p.D202N|RAD51AP1_ENST00000544931.1_3'UTR	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	RAD51 associated protein 1	219					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			TGAGGATAATGACGAAGACTT	0.313000													10	38					0	0	0.010729	0	0
CACNA1E	777	broad.mit.edu	37	1	181767574	181767574	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:181767574C>T	ENST00000526775.1	+	46	6525	c.6360C>T	c.(6358-6360)atC>atT	p.I2120I	CACNA1E_ENST00000367567.4_Silent_p.I1746I|CACNA1E_ENST00000367573.2_Silent_p.I2182I|CACNA1E_ENST00000367570.1_Silent_p.I2139I|CACNA1E_ENST00000357570.5_Silent_p.I2133I|CACNA1E_ENST00000358338.5_Silent_p.I2071I|CACNA1E_ENST00000360108.3_Silent_p.I2163I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2182					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGGGCAGCATCTCTCCACCTG	0.637000													42	40					0	0	0.008740	0	0
TLR10	81793	broad.mit.edu	37	4	38776612	38776612	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:38776612G>T	ENST00000308973.4	-	4	1205	c.600C>A	c.(598-600)gaC>gaA	p.D200E	TLR10_ENST00000506111.1_Missense_Mutation_p.D200E|TLR10_ENST00000508334.1_Missense_Mutation_p.D200E|TLR10_ENST00000361424.2_Missense_Mutation_p.D200E	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	200					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						AGAAATTTGTGTCCATTGGTA	0.343000													38	20					4.92203e-23	8.55886e-23	0.006230	1	0
ADAM23	8745	broad.mit.edu	37	2	207414883	207414883	+	Splice_Site	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:207414883C>T	ENST00000264377.3	+	9	1260	c.933_splice	c.e9+1	p.T311_splice	ADAM23_ENST00000374415.3_Splice_Site_p.T311_splice|ADAM23_ENST00000374416.1_Splice_Site_p.T311_splice	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	311	Peptidase M12B.				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)		GATCACAAAACGGTAAGAATA	0.279000													5	23					0	0	0.000602	0	0
CCDC50	152137	broad.mit.edu	37	3	191092871	191092871	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:191092871G>T	ENST00000392456.3	+	6	1059	c.469G>T	c.(469-471)Gcc>Tcc	p.A157S	CCDC50_ENST00000392455.3_Intron	NM_178335.2	NP_848018.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	153						cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		GTCAAGGAGGGCCAGGGAATT	0.448000													9	24					9.70103e-10	1.26255e-09	0.008291	1	0
DST	667	broad.mit.edu	37	6	56373489	56373489	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:56373489C>A	ENST00000370754.5	-	75	18983	c.18984G>T	c.(18982-18984)gaG>gaT	p.E6328D	DST_ENST00000370769.4_Missense_Mutation_p.E6150D|DST_ENST00000361203.3_Missense_Mutation_p.E6039D|DST_ENST00000244364.6_Missense_Mutation_p.E3736D|DST_ENST00000421834.2_Missense_Mutation_p.E4062D|DST_ENST00000370788.2_Missense_Mutation_p.E3953D|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.E5824D|DST_ENST00000340834.4_5'UTR			Q03001	DYST_HUMAN	dystonin	6148					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)			TGGCTTCCCTCTCTTCCACCA	0.413000													19	50					9.7654e-05	0.000108006	0.007413	1	0
MROH7	374977	broad.mit.edu	37	1	55119634	55119634	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:55119634C>A	ENST00000414150.2	+	3	1313	c.1035C>A	c.(1033-1035)ttC>ttA	p.F345L	MROH7_ENST00000454855.2_Intron|MROH7_ENST00000395690.2_Missense_Mutation_p.F345L|MROH7_ENST00000339553.5_Missense_Mutation_p.F345L|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000421030.2_Missense_Mutation_p.F345L|MROH7_ENST00000545244.1_Intron					maestro heat-like repeat family member 7																		GCCTCCTGTTCAGCGACACCT	0.567000													15	32					3.27435e-08	4.09539e-08	0.002450	1	0
FLNC	2318	broad.mit.edu	37	7	128491636	128491636	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:128491636C>T	ENST00000325888.8	+	35	6057	c.5796C>T	c.(5794-5796)ttC>ttT	p.F1932F	FLNC_ENST00000346177.6_Silent_p.F1899F|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1932					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCGTGCGCTTCGATGACAAGC	0.577000													14	59					0	0	0.001855	0	0
CCL15	6359	broad.mit.edu	37	17	34325410	34325410	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:34325410C>T	ENST00000354059.4	-	3	706	c.154G>A	c.(154-156)Gac>Aac	p.D52N	CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.D52N|CCL14_ENST00000536149.1_5'UTR	NM_032965.4	NP_116741.1	Q16663	CCL15_HUMAN	chemokine (C-C motif) ligand 15	52					cell-cell signaling|cellular calcium ion homeostasis|immune response	extracellular space	chemoattractant activity|chemokine activity|heparin binding|signal transducer activity			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTGCAGCAGTCAGCAGCAAAG	0.493000													3	9					0	0	0.009096	0	0
ATP13A2	23400	broad.mit.edu	37	1	17323579	17323579	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:17323579C>A	ENST00000452699.1	-	12	1305	c.1116G>T	c.(1114-1116)ggG>ggT	p.G372G	ATP13A2_ENST00000326735.8_Silent_p.G377G|ATP13A2_ENST00000502860.1_5'UTR|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Silent_p.G372G	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	377					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		AGATGAGGGTCCCGCAGAAGA	0.662000													43	23					2.95478e-19	4.89336e-19	0.008740	1	0
OR6Y1	391112	broad.mit.edu	37	1	158516949	158516949	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:158516949C>A	ENST00000302617.3	-	1	946	c.947G>T	c.(946-948)gGg>gTg	p.G316V		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TCCCTGGGGCCCACTTCCTCT	0.453000													22	35					3.8784e-16	6.06212e-16	0.012319	1	0
ABI3BP	25890	broad.mit.edu	37	3	100617622	100617622	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:100617622G>A	ENST00000471714.1	-	4	575	c.466C>T	c.(466-468)Cac>Tac	p.H156Y	ABI3BP_ENST00000495063.1_Missense_Mutation_p.H156Y|ABI3BP_ENST00000284322.5_Missense_Mutation_p.H156Y			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	156	Fibronectin type-III 1.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTGGGACAGTGACTTGGCAAT	0.453000													12	63					0	0	0.010729	0	0
PROX1	5629	broad.mit.edu	37	1	214171498	214171498	+	Silent	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:214171498A>G	ENST00000366958.4	+	2	2228	c.1620A>G	c.(1618-1620)ccA>ccG	p.P540P	PROX1_ENST00000261454.4_Silent_p.P540P|PROX1_ENST00000435016.1_Silent_p.P540P|PROX1_ENST00000498508.2_Silent_p.P540P	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	540					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	p.P540P(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CTTGTTCACCAGCACACCCGC	0.522000													24	48					0	0	0.002299	0	0
DNAAF2	55172	broad.mit.edu	37	14	50092641	50092641	+	Silent	SNP	A	A	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr14:50092641A>C	ENST00000298292.8	-	3	2213	c.2133T>G	c.(2131-2133)tcT>tcG	p.S711S	DNAAF2_ENST00000406043.3_Silent_p.S663S	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	711					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm				kidney(1)|lung(4)	5						TAACTGCTATAGATGAATCAG	0.343000													3	15					0	0	0.004672	0	0
AIFM3	150209	broad.mit.edu	37	22	21327772	21327772	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr22:21327772G>T	ENST00000399167.2	+	3	448	c.208G>T	c.(208-210)Gct>Tct	p.A70S	AIFM3_ENST00000335375.5_Missense_Mutation_p.R94S|AIFM3_ENST00000399163.2_Missense_Mutation_p.A70S|AIFM3_ENST00000333607.6_Missense_Mutation_p.A70S|AIFM3_ENST00000405089.1_Missense_Mutation_p.A76S|AIFM3_ENST00000440238.2_Missense_Mutation_p.A70S	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TTGCGTGGAGGCTGCTGTCTG	0.692000													43	19					2.56662e-36	4.90596e-36	0.013114	1	0
PRUNE2	158471	broad.mit.edu	37	9	79324793	79324793	+	Silent	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr9:79324793G>C	ENST00000428286.1	-	8	2520	c.1320C>G	c.(1318-1320)gcC>gcG	p.A440A	PRUNE2_ENST00000376718.3_Silent_p.A799A			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	799					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATGCACTCCAGGCTGGGAATG	0.507000													18	6					0	0	0.004990	0	0
SLC16A6	9120	broad.mit.edu	37	17	66267011	66267011	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:66267011G>T	ENST00000327268.4	-	6	1454	c.1290C>A	c.(1288-1290)agC>agA	p.S430R	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.S430R	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	430						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	GTCCTGCTATGCTCTGAATGA	0.463000													14	45					1.3612e-06	1.62928e-06	0.003163	1	0
GOLGA3	2802	broad.mit.edu	37	12	133354252	133354252	+	Splice_Site	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:133354252T>A	ENST00000204726.3	-	19	4280	c.3722_splice	c.e19+1	p.Q1241_splice	GOLGA3_ENST00000450791.2_Splice_Site_p.Q1241_splice|GOLGA3_ENST00000456883.2_Splice_Site_p.Q1241_splice	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1241	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		AGGCACTCACTGAAGGTCGTC	0.597000													29	42					0	0	0.008361	0	0
TMEM119	338773	broad.mit.edu	37	12	108985685	108985685	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:108985685C>T	ENST00000392806.3	-	2	643	c.475G>A	c.(475-477)Gac>Aac	p.D159N		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	159						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						GGCCTGCTGTCGGGGGCTCTG	0.677000													13	26					0	0	0.002450	0	0
KCNIP4	80333	broad.mit.edu	37	4	21950327	21950327	+	Translation_Start_Site	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:21950327C>T	ENST00000382152.2	-	0	95				KCNIP4_ENST00000447367.2_De_novo_Start_OutOfFrame	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4							plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				CGGGTCTGCACGGGAGCGCAC	0.716000													4	8					0	0	0.009096	0	0
ORAOV1	220064	broad.mit.edu	37	11	69488079	69488079	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:69488079C>A	ENST00000279147.4	-	2	168	c.61G>T	c.(61-63)Gaa>Taa	p.E21*	ORAOV1_ENST00000535657.1_Nonsense_Mutation_p.E21*|ORAOV1_ENST00000539414.1_Nonsense_Mutation_p.E21*|ORAOV1_ENST00000536870.1_Intron|ORAOV1_ENST00000542341.1_Nonsense_Mutation_p.E21*	NM_153451.2	NP_703152.1	Q8WV07	ORAV1_HUMAN	oral cancer overexpressed 1	21										NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			CGATACCCTTCCCCATGAAAC	0.483000													26	94					6.36457e-07	7.72885e-07	0.003954	1	0
PITX2	5308	broad.mit.edu	37	4	111539292	111539292	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:111539292G>A	ENST00000354925.2	-	7	2648	c.943C>T	c.(943-945)Cgg>Tgg	p.R315W	PITX2_ENST00000394598.2_Missense_Mutation_p.R315W|PITX2_ENST00000394595.3_3'UTR|PITX2_ENST00000306732.3_Missense_Mutation_p.R322W|PITX2_ENST00000355080.5_Missense_Mutation_p.R269W	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	315					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.R315R(1)|p.R322R(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CACACGGGCCGGTCCACTGCA	0.622000													29	8					0	0	0.006320	0	0
CPS1	1373	broad.mit.edu	37	2	211476930	211476930	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:211476930C>T	ENST00000233072.5	+	20	2677	c.2481C>T	c.(2479-2481)ctC>ctT	p.L827L	CPS1_ENST00000451903.2_Silent_p.L376L|CPS1_ENST00000430249.2_Silent_p.L833L	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	827					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)		CTCCCCGTCTCCCAATGAACA	0.433000													18	45					0	0	0.004990	0	0
CXCR1	3577	broad.mit.edu	37	2	219029096	219029096	+	Missense_Mutation	SNP	C	C	T	rs140728083		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:219029096C>T	ENST00000295683.2	-	2	959	c.839G>A	c.(838-840)cGc>cAc	p.R280H		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	280					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						GATGTTGTTGCGGCGCTCACA	0.577000													12	68					0	0	0.010729	0	0
MUC16	94025	broad.mit.edu	37	19	9088849	9088849	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:9088849G>T	ENST00000397910.4	-	1	3169	c.2966C>A	c.(2965-2967)gCc>gAc	p.A989D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	989	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGAGAAGTGGCAGAGGTTGA	0.463000													67	101					2.19297e-23	3.8357e-23	0.003610	1	0
CDK15	65061	broad.mit.edu	37	2	202712183	202712183	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:202712183G>A	ENST00000450471.2	+	9	1017	c.931G>A	c.(931-933)Gag>Aag	p.E311K	CDK15_ENST00000434439.1_Missense_Mutation_p.E311K|CDK15_ENST00000374598.4_Missense_Mutation_p.E311K|CDK15_ENST00000410091.3_Missense_Mutation_p.E260K|CDK15_ENST00000260967.2_Missense_Mutation_p.E260K|CDK15_ENST00000488419.1_3'UTR	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	311	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	TGAACAGCTGGAGAAAATCTG	0.383000													22	51					0	0	0.002780	0	0
MUC17	140453	broad.mit.edu	37	7	100686270	100686270	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:100686270C>T	ENST00000306151.4	+	3	11637	c.11573C>T	c.(11572-11574)cCt>cTt	p.P3858L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3858						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)					TTCTCCATACCTGCTGAAGTC	0.478000													55	40					0	0	0.003610	0	0
LRTM1	57408	broad.mit.edu	37	3	54959164	54959164	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:54959164G>C	ENST00000273286.5	-	2	248	c.86C>G	c.(85-87)tCa>tGa	p.S29*	CACNA2D3_ENST00000474759.1_Intron|LRTM1_ENST00000493075.1_5'UTR|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000490478.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	29	LRRNT.					integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		ATTTGTAGATGACTGACAGTA	0.463000													12	1					0	0	0.010729	0	0
SULF1	23213	broad.mit.edu	37	8	70540099	70540099	+	Missense_Mutation	SNP	A	A	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:70540099A>C	ENST00000260128.4	+	17	2757	c.2040A>C	c.(2038-2040)caA>caC	p.Q680H	SULF1_ENST00000402687.4_Missense_Mutation_p.Q680H|SULF1_ENST00000419716.3_Missense_Mutation_p.Q680H|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.Q680H	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	680					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GCAGTAAACAAAGGTGAGCTT	0.408000													86	59					0	0	0.003610	0	0
PRRC2B	84726	broad.mit.edu	37	9	134371220	134371220	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr9:134371220A>G	ENST00000357304.4	+	31	6704	c.6649A>G	c.(6649-6651)Atc>Gtc	p.I2217V	PRRC2B_ENST00000405995.1_Missense_Mutation_p.I1523V|PRRC2B_ENST00000372249.1_3'UTR|PRRC2B_ENST00000458550.1_Missense_Mutation_p.I1523V|PRRC2B_ENST00000465931.1_3'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	2217							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AACCGGAGCGATCAAGCCTCG	0.632000													13	5					0	0	0.001368	0	0
SERPINB12	89777	broad.mit.edu	37	18	61233928	61233928	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr18:61233928G>T	ENST00000382768.1	+	7	962	c.962G>T	c.(961-963)cGg>cTg	p.R321L	SERPINB12_ENST00000269491.1_Missense_Mutation_p.R301L			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	301					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TCCTTCCCCCGGTTCACCCTG	0.448000													180	49					3.55815e-84	7.15057e-84	0.003610	1	0
ARHGEF12	23365	broad.mit.edu	37	11	120298883	120298883	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:120298883C>T	ENST00000397843.2	+	8	678	c.512C>T	c.(511-513)cCc>cTc	p.P171L	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.P152L|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.P68L	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	171					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.P171L(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CATATGTCTCCCATCATGACA	0.498000			T	MLL	AML								73	60					0	0	0.003610	0	0
PRDM10	56980	broad.mit.edu	37	11	129775622	129775622	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:129775622T>C	ENST00000358825.5	-	21	3421	c.3190A>G	c.(3190-3192)Atg>Gtg	p.M1064V	PRDM10_ENST00000360871.3_Missense_Mutation_p.M1060V|PRDM10_ENST00000304538.6_Missense_Mutation_p.M927V|PRDM10_ENST00000526082.1_Missense_Mutation_p.M978V|PRDM10_ENST00000423662.2_Missense_Mutation_p.M965V|PRDM10_ENST00000528746.1_Missense_Mutation_p.M1021V	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	1051					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		AGCGTCATCATTTGAATCTCA	0.433000													22	12					0	0	0.012319	0	0
TRIP6	7205	broad.mit.edu	37	7	100469167	100469167	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:100469167C>A	ENST00000200457.4	+	7	1362	c.1002C>A	c.(1000-1002)gcC>gcA	p.A334A		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	334					focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCAACAGGCCACCCTGGAGA	0.627000													25	24					9.39395e-14	1.37558e-13	0.006320	1	0
VCPIP1	80124	broad.mit.edu	37	8	67547476	67547476	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:67547476C>A	ENST00000310421.4	-	3	3187	c.2929G>T	c.(2929-2931)Gat>Tat	p.D977Y		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	977					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TTAACTAAATCTTCAACATCA	0.443000													64	160					8.73484e-25	1.55562e-24	0.003610	1	0
ANKRD17	26057	broad.mit.edu	37	4	74021863	74021863	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:74021863C>A	ENST00000358602.4	-	4	841	c.725G>T	c.(724-726)tGt>tTt	p.C242F	ANKRD17_ENST00000509867.2_Missense_Mutation_p.C129F|ANKRD17_ENST00000330838.6_Missense_Mutation_p.C242F	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	242					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCCTTCTGAACAGGCTTCTGC	0.378000													14	6					2.31682e-05	2.62266e-05	0.003163	1	0
SETBP1	26040	broad.mit.edu	37	18	42531132	42531132	+	Silent	SNP	C	C	G	rs140403091		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr18:42531132C>G	ENST00000282030.5	+	4	2123	c.1827C>G	c.(1825-1827)ccC>ccG	p.P609P		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	609						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)		CCACCAGCCCCGTCAGTCCCA	0.532000									Schinzel-Giedion syndrome				30	40					0	0	0.007291	0	0
ANKRD24	170961	broad.mit.edu	37	19	4219734	4219734	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:4219734G>T	ENST00000600132.1	+	19	3426	c.3150G>T	c.(3148-3150)aaG>aaT	p.K1050N	ANKRD24_ENST00000262970.5_Missense_Mutation_p.K1140N|ANKRD24_ENST00000318934.4_Missense_Mutation_p.K1050N	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1050										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CTCTGGACAAGGCCAAGGAGA	0.647000													35	11					4.65686e-17	7.38024e-17	0.003755	1	0
PTPRM	5797	broad.mit.edu	37	18	8253261	8253261	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr18:8253261T>A	ENST00000332175.8	+	17	3601	c.2564T>A	c.(2563-2565)cTg>cAg	p.L855Q	PTPRM_ENST00000580170.1_Missense_Mutation_p.L868Q|PTPRM_ENST00000444013.1_Missense_Mutation_p.L642Q|PTPRM_ENST00000400053.4_Missense_Mutation_p.L793Q|PTPRM_ENST00000400060.4_Missense_Mutation_p.L869Q	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	855					homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				ACCAGCAGCCTGGTGCAGTCC	0.592000													7	10					0	0	0.001984	0	0
USH2A	7399	broad.mit.edu	37	1	215853675	215853675	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:215853675G>T	ENST00000366943.2	-	62	12496	c.12110C>A	c.(12109-12111)aCa>aAa	p.T4037K	USH2A_ENST00000307340.3_Missense_Mutation_p.T4037K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4037	Fibronectin type-III 25.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			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)		GCGATATGTTGTGAATGGTTC	0.398000										HNSCC(13;0.011)			29	59					6.90743e-12	9.54536e-12	0.003755	1	0
ZFX	7543	broad.mit.edu	37	X	24228809	24228809	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chrX:24228809C>T	ENST00000379177.1	+	11	2161	c.1734C>T	c.(1732-1734)tgC>tgT	p.C578C	ZFX_ENST00000338565.3_Silent_p.C528C|ZFX_ENST00000304543.5_Silent_p.C578C|ZFX_ENST00000540034.1_Silent_p.C617C|ZFX_ENST00000539115.1_Silent_p.C349C|ZFX_ENST00000379188.3_Silent_p.C578C	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	578					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CGTACCAATGCCAGTACTGCG	0.433000													45	16					0	0	0.011902	0	0
RPL31P11	641311	broad.mit.edu	37	1	161654835	161654835	+	RNA	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:161654835C>G	ENST00000426558.1	-	0	207					NR_002595.1																						GTTCCCATCTCCTTCATGCCA	0.512000													11	8					0	0	0.010729	0	0
DYTN	391475	broad.mit.edu	37	2	207516619	207516619	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:207516619G>A	ENST00000452335.2	-	12	1776	c.1660C>T	c.(1660-1662)Ctg>Ttg	p.L554L		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	554						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CCACTGTACAGGTCCATGTTT	0.463000													17	31					0	0	0.004990	0	0
TRPS1	7227	broad.mit.edu	37	8	116631772	116631772	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:116631772C>A	ENST00000395715.3	-	3	1130	c.553G>T	c.(553-555)Gcc>Tcc	p.A185S	TRPS1_ENST00000520276.1_Missense_Mutation_p.A176S|TRPS1_ENST00000519674.1_Missense_Mutation_p.A172S|TRPS1_ENST00000519076.1_Missense_Mutation_p.A126S|TRPS1_ENST00000220888.5_Missense_Mutation_p.A172S	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	172					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGACAATTGGCTTGACCACTC	0.488000									Langer-Giedion syndrome				48	129					8.72198e-27	1.57802e-26	0.003610	1	0
ACO1	48	broad.mit.edu	37	9	32430486	32430486	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr9:32430486G>A	ENST00000379923.1	+	15	1846	c.1640G>A	c.(1639-1641)cGg>cAg	p.R547Q	ACO1_ENST00000541043.1_Missense_Mutation_p.R448Q|ACO1_ENST00000309951.5_Missense_Mutation_p.R547Q	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	547					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		CCCAACACCCGGGCCAACTAT	0.448000													21	58					0	0	0.012319	0	0
CACNA1C	775	broad.mit.edu	37	12	2705067	2705067	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:2705067C>T	ENST00000399655.1	+	20	2956	c.2691C>T	c.(2689-2691)gtC>gtT	p.V897V	CACNA1C_ENST00000335762.5_Silent_p.V922V|CACNA1C_ENST00000399641.1_Silent_p.V897V|CACNA1C_ENST00000327702.7_Silent_p.V897V|CACNA1C_ENST00000399629.1_Silent_p.V897V|CACNA1C_ENST00000399601.1_Silent_p.V897V|CACNA1C_ENST00000344100.3_Silent_p.V897V|CACNA1C_ENST00000402845.3_Silent_p.V897V|CACNA1C_ENST00000399638.1_Silent_p.V897V|CACNA1C_ENST00000399595.1_Silent_p.V897V|CACNA1C_ENST00000399606.1_Silent_p.V897V|CACNA1C_ENST00000347598.4_Silent_p.V897V|CACNA1C_ENST00000399634.1_Silent_p.V897V|CACNA1C_ENST00000399649.1_Silent_p.V897V|CACNA1C_ENST00000399591.1_Silent_p.V897V|CACNA1C_ENST00000399603.1_Silent_p.V897V|CACNA1C_ENST00000399617.1_Silent_p.V897V|CACNA1C_ENST00000399637.1_Silent_p.V897V|CACNA1C_ENST00000399644.1_Silent_p.V897V|CACNA1C_ENST00000480911.1_Silent_p.V897V|CACNA1C_ENST00000399621.1_Silent_p.V897V|CACNA1C_ENST00000399597.1_Silent_p.V897V|CACNA1C_ENST00000406454.3_Silent_p.V897V	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	897					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			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)	ACCGCATTGTCAATGACACGA	0.572000													11	69					0	0	0.008291	0	0
TGM1	7051	broad.mit.edu	37	14	24729776	24729776	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr14:24729776G>A	ENST00000206765.6	-	4	760	c.637C>T	c.(637-639)Ccc>Tcc	p.P213S	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	213					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	ATGGCGTTGGGGGAAGTGTGG	0.587000													52	39					0	0	0.003610	0	0
KRT72	140807	broad.mit.edu	37	12	52981443	52981443	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:52981443G>T	ENST00000293745.2	-	7	1367	c.1282C>A	c.(1282-1284)Cgc>Agc	p.R428S	KRT72_ENST00000537672.2_Missense_Mutation_p.R428S|KRT72_ENST00000354310.4_Missense_Mutation_p.R386S|KRT72_ENST00000398066.3_Missense_Mutation_p.R240S	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	428	Coil 2.|Rod.		R -> L (in dbSNP:rs11170183).			keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		AGCAGCTTGCGGTAGGTGGCG	0.612000													63	82					2.89935e-36	5.53352e-36	0.003610	1	0
IQCE	23288	broad.mit.edu	37	7	2608599	2608599	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:2608599G>T	ENST00000402050.2	+	3	280	c.96G>T	c.(94-96)agG>agT	p.R32S	IQCE_ENST00000438376.2_Missense_Mutation_p.R16S|IQCE_ENST00000404984.1_Intron|IQCE_ENST00000325979.7_Intron	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	32										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		AAGCAAAAAGGAAAGCTTTCC	0.512000													27	12					1.42536e-11	1.95246e-11	0.004656	1	0
TG	7038	broad.mit.edu	37	8	134145856	134145856	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:134145856G>T	ENST00000220616.4	+	47	8180	c.8140G>T	c.(8140-8142)Gac>Tac	p.D2714Y	TG_ENST00000519543.1_Missense_Mutation_p.D847Y|TG_ENST00000377869.1_Missense_Mutation_p.D2657Y|TG_ENST00000542445.1_Missense_Mutation_p.D1084Y	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2714					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)		GAAGAAAGCCGACTGCTCCTT	0.547000													10	71					0.000442599	0.00047647	0.006214	1	0
PLCH2	9651	broad.mit.edu	37	1	2435900	2435900	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:2435900C>G	ENST00000419816.2	+	22	3773	c.3499C>G	c.(3499-3501)Cgc>Ggc	p.R1167G	PLCH2_ENST00000378483.2_3'UTR|PLCH2_ENST00000378488.3_Missense_Mutation_p.R1131G|PLCH2_ENST00000449969.1_3'UTR|PLCH2_ENST00000378486.3_Missense_Mutation_p.R1167G			O75038	PLCH2_HUMAN	phospholipase C, eta 2	1167					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GGGCCTGGGCCGCAGCCGTGA	0.677000													21	45					0	0	0.008871	0	0
UNC13B	10497	broad.mit.edu	37	9	35403172	35403172	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr9:35403172G>T	ENST00000378495.3	+	37	4468	c.4246G>T	c.(4246-4248)Gtg>Ttg	p.V1416L	UNC13B_ENST00000396787.1_Missense_Mutation_p.V1447L|UNC13B_ENST00000378496.4_Missense_Mutation_p.V1435L	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1416					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AGGGTCTGGTGTGGACGATCC	0.512000													31	26					3.90053e-15	5.91218e-15	0.012213	1	0
MAGEC1	9947	broad.mit.edu	37	X	140994417	140994417	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chrX:140994417G>C	ENST00000285879.4	+	4	1513	c.1227G>C	c.(1225-1227)caG>caC	p.Q409H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	409							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCTCCAGATTCCTATGA	0.483000										HNSCC(15;0.026)			128	111					0	0	0.003610	0	0
HEATR2	54919	broad.mit.edu	37	7	803566	803566	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:803566C>T	ENST00000297440.6	+	8	1758	c.1738C>T	c.(1738-1740)Cac>Tac	p.H580Y	HEATR2_ENST00000313147.5_Missense_Mutation_p.H580Y	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	580							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CTGGACCGCACACTCGCCGGA	0.662000													27	118					0	0	0.007291	0	0
POP1	10940	broad.mit.edu	37	8	99135611	99135611	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:99135611C>T	ENST00000401707.2	+	2	127	c.46C>T	c.(46-48)Cag>Tag	p.Q16*	POP1_ENST00000349693.3_Nonsense_Mutation_p.Q16*	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	16					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AATGAGAAACCAGCCTACCAA	0.403000													7	66					0	0	0.001984	0	0
TRBV2	28620	broad.mit.edu	37	7	142001199	142001199	+	RNA	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:142001199G>T	ENST00000455382.2	+	0	365																											TCACTCTGAAGATCCGGTCCA	0.438000													8	8					5.18039e-06	6.04459e-06	0.003080	1	0
ZIC3	7547	broad.mit.edu	37	X	136649221	136649221	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chrX:136649221G>T	ENST00000287538.5	+	1	921	c.371G>T	c.(370-372)aGc>aTc	p.S124I	ZIC3_ENST00000370606.3_Missense_Mutation_p.S124I	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	124					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CGCCAGCGCAGCTCCGGGCTC	0.692000													6	2					0.00116845	0.00124079	0.001168	1	0
PTCH2	8643	broad.mit.edu	37	1	45292949	45292949	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:45292949A>T	ENST00000447098.2	-	16	2415	c.2404T>A	c.(2404-2406)Tct>Act	p.S802T	PTCH2_ENST00000372192.3_Missense_Mutation_p.S802T	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	802					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					ATGCGCCCAGAAGCCCAGTCC	0.632000									Basal Cell Nevus syndrome				41	37					0	0	0.009718	0	0
ZNF621	285268	broad.mit.edu	37	3	40573785	40573785	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:40573785G>T	ENST00000339296.5	+	5	976	c.524G>T	c.(523-525)gGg>gTg	p.G175V	ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000403205.2_Missense_Mutation_p.G175V|ZNF621_ENST00000431278.1_Missense_Mutation_p.G64V|ZNF621_ENST00000490457.1_Intron	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		AGTCATACTGGGGAAAAGCCC	0.403000													23	6					2.89027e-11	3.91625e-11	0.002299	1	0
TUBB1	81027	broad.mit.edu	37	20	57597947	57597947	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr20:57597947C>A	ENST00000217133.1	+	2	374	c.105C>A	c.(103-105)agC>agA	p.S35R		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	35					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	TGGCTGGGAGCGACCGCGGGG	0.587000													14	36					1.5739e-10	2.08963e-10	0.004007	1	0
DPY19L2P2	349152	broad.mit.edu	37	7	102898120	102898120	+	RNA	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:102898120C>A	ENST00000312132.4	-	0	2452																											GTTTCTAGTCCAAATAAATTC	0.353000													4	38					0.00909568	0.0094583	0.009096	1	0
PAX1	5075	broad.mit.edu	37	20	21689880	21689880	+	Silent	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr20:21689880C>G	ENST00000398485.2	+	4	1134	c.1080C>G	c.(1078-1080)gcC>gcG	p.A360A	PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Silent_p.A336A	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	360					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CCCTCTCTGCCGTGGGCGGCT	0.697000													65	122					0	0	0.003610	0	0
C9	735	broad.mit.edu	37	5	39316073	39316073	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:39316073T>A	ENST00000263408.4	-	6	769	c.674A>T	c.(673-675)aAa>aTa	p.K225I	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	225	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GATGATACTTTTAAATGCTTC	0.308000													7	78					0	0	0.001984	0	0
OR52I1	390037	broad.mit.edu	37	11	4615655	4615655	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:4615655C>T	ENST00000450052.2	+	2	459	c.459C>T	c.(457-459)gcC>gcT	p.A153A	OR52I1_ENST00000530443.2_Silent_p.A129A			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTATGTAGCCATCTGCAAGC	0.498000													15	32					0	0	0.012319	0	0
MYO3B	140469	broad.mit.edu	37	2	171238560	171238560	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:171238560G>T	ENST00000334231.6	+	10	1033	c.1033G>T	c.(1033-1035)Gtg>Ttg	p.V345L	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.V336L|MYO3B_ENST00000408978.4_Missense_Mutation_p.V336L			Q8WXR4	MYO3B_HUMAN	myosin IIIB	336	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ACCTTATCATGTGGAAGATGC	0.383000													10	41					3.86212e-05	4.32502e-05	0.008291	1	0
MXRA5	25878	broad.mit.edu	37	X	3235641	3235641	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chrX:3235641G>T	ENST00000217939.6	-	6	6235	c.6081C>A	c.(6079-6081)gcC>gcA	p.A2027A		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2027	Ig-like C2-type 4.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGCATTGCTGGCCACGCACT	0.647000													23	14					1.64293e-13	2.37523e-13	0.003330	1	0
BTAF1	9044	broad.mit.edu	37	10	93773444	93773444	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:93773444G>T	ENST00000265990.6	+	31	4640	c.4332G>T	c.(4330-4332)tgG>tgT	p.W1444C	BTAF1_ENST00000544642.1_Missense_Mutation_p.W272C	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1444	Helicase ATP-binding.				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)				TGGAGCTGTGGTCATTATTTG	0.383000													39	28					4.67007e-22	8.03149e-22	0.008740	1	0
PCDHA7	56141	broad.mit.edu	37	5	140216116	140216116	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:140216116G>T	ENST00000525929.1	+	1	2148	c.2148G>T	c.(2146-2148)ctG>ctT	p.L716L	PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.L716L|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTACCCTGCTGCTGTACACGG	0.612000													46	12					1.23713e-20	2.07904e-20	0.003610	1	0
TENM4	26011	broad.mit.edu	37	11	78369639	78369639	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:78369639G>T	ENST00000278550.7	-	34	8236	c.7774C>A	c.(7774-7776)Cga>Aga	p.R2592R		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.R2592*(2)									GCAACCCTTCGCCCATCCTCA	0.527000													17	24					1.45105e-14	2.17051e-14	0.006122	1	0
GPR78	27201	broad.mit.edu	37	4	8588916	8588916	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:8588916C>A	ENST00000382487.4	+	3	1335	c.918C>A	c.(916-918)gcC>gcA	p.A306A	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	306					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A306A(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						AAGTCCTGGCCGGCATGGTGC	0.652000													26	13					8.24728e-16	1.2795e-15	0.004656	1	0
UBC	7316	broad.mit.edu	37	12	125396341	125396341	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:125396341T>A	ENST00000536769.1	-	1	3553	c.1977A>T	c.(1975-1977)gaA>gaT	p.E659D	UBC_ENST00000339647.5_Missense_Mutation_p.E659D|UBC_ENST00000546120.1_Missense_Mutation_p.E583D|UBC_ENST00000538617.1_Missense_Mutation_p.E279D			P0CG48	UBC_HUMAN	ubiquitin C	659	Ubiquitin-like 9.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGCGTCCATCTTCCAGCTGTT	0.507000													44	212					0	0	0.011902	0	0
PI15	51050	broad.mit.edu	37	8	75756325	75756325	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:75756325G>T	ENST00000260113.2	+	3	562	c.383G>T	c.(382-384)cGc>cTc	p.R128L	RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.R128L	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	128						extracellular region	peptidase inhibitor activity	p.R128H(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			CTATCTGTACGCACTGGAAGG	0.408000													21	249					1.42536e-11	1.95246e-11	0.004656	1	0
HMCN1	83872	broad.mit.edu	37	1	186120336	186120336	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:186120336G>T	ENST00000271588.4	+	94	14842	c.14613G>T	c.(14611-14613)ggG>ggT	p.G4871G	HMCN1_ENST00000367492.2_Silent_p.G4871G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4871	Nidogen G2 beta-barrel.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAATAGGTGGGCCCCAGCGAG	0.398000													26	71					2.41591e-17	3.86496e-17	0.004656	1	0
CACNG4	27092	broad.mit.edu	37	17	65021095	65021095	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:65021095G>T	ENST00000262138.3	+	3	426	c.424G>T	c.(424-426)Ggc>Tgc	p.G142C		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	142					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	p.G142S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			CCTCAGTGCCGGCATCCTCTT	0.662000													18	41					1.33834e-09	1.73817e-09	0.007413	1	0
CTNND2	1501	broad.mit.edu	37	5	11364904	11364904	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:11364904C>A	ENST00000304623.8	-	8	1465	c.1276G>T	c.(1276-1278)Gac>Tac	p.D426Y	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.D426Y|CTNND2_ENST00000503622.1_Missense_Mutation_p.D89Y|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.D335Y	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	426				D -> V (in Ref. 1; AAC63103).	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						TAGACGCGGTCTTCATAGATG	0.627000													194	54					9.97002e-88	2.00683e-87	0.003610	1	0
RUNX1T1	862	broad.mit.edu	37	8	92972709	92972709	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:92972709A>T	ENST00000523629.1	-	12	2030	c.1576T>A	c.(1576-1578)Tgc>Agc	p.C526S	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.C499S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.C499S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.C537S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.C489S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.C526S|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.C489S|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.C489S	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	526					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CAGCCACTGCAGGTTTCACTC	0.493000													11	100					0	0	0.010729	0	0
CDH20	28316	broad.mit.edu	37	18	59203799	59203799	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr18:59203799G>T	ENST00000262717.4	+	8	1743	c.1345G>T	c.(1345-1347)Gca>Tca	p.A449S	CDH20_ENST00000538374.1_Missense_Mutation_p.A449S|CDH20_ENST00000536675.2_Missense_Mutation_p.A449S			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	449	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CCTAATGACAGCAAGACCCCT	0.423000													48	47					1.76056e-25	3.1579e-25	0.011902	1	0
ZW10	9183	broad.mit.edu	37	11	113631282	113631282	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:113631282C>G	ENST00000200135.3	-	4	517	c.373G>C	c.(373-375)Gca>Cca	p.A125P		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	125	Interaction with RINT1.				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TCTGTTAATGCACAATTATAT	0.343000													20	86					0	0	0.008871	0	0
CEP350	9857	broad.mit.edu	37	1	180006120	180006120	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:180006120C>G	ENST00000367607.3	+	17	4424	c.4006C>G	c.(4006-4008)Ctg>Gtg	p.L1336V		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1336						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ACTCAGTTATCTGAACGCCAT	0.468000													4	8					0	0	0.009096	0	0
COX5A	9377	broad.mit.edu	37	15	75221558	75221558	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr15:75221558C>T	ENST00000322347.6	-	2	269	c.116G>A	c.(115-117)cGc>cAc	p.R39H	COX5A_ENST00000568517.1_5'UTR|COX5A_ENST00000562233.1_Missense_Mutation_p.R39H|COX5A_ENST00000564811.1_Missense_Mutation_p.R39H|COX5A_ENST00000567270.1_Intron|COX5A_ENST00000568783.1_Missense_Mutation_p.R39H	NM_004255.3	NP_004246.2	P20674	COX5A_HUMAN	cytochrome c oxidase subunit Va	39					respiratory electron transport chain	mitochondrial inner membrane	cytochrome-c oxidase activity|electron carrier activity|metal ion binding			endometrium(1)|large_intestine(1)|pancreas(1)	3						GGAATAGCAGCGAACTGACTG	0.383000													35	34					0	0	0.004289	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47370295	47370295	+	Splice_Site	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr22:47370295G>T	ENST00000337137.4	+	9	1291	c.1125_splice	c.e9+1	p.Q375_splice	TBC1D22A_ENST00000406733.1_Splice_Site_p.Q328_splice|TBC1D22A_ENST00000355704.3_Splice_Site_p.Q297_splice|TBC1D22A_ENST00000407381.3_Splice_Site_p.Q316_splice	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	375	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		ATGGCATTCAGGTGAGCGCCC	0.657000													11	1					0.00010058	0.000110948	0.001368	1	0
KCNG1	3755	broad.mit.edu	37	20	49620679	49620679	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr20:49620679C>T	ENST00000371571.4	-	3	1724	c.1439G>A	c.(1438-1440)cGg>cAg	p.R480Q	RP5-955M13.3_ENST00000506387.1_RNA|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	480						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CTGCGCCCTCCGGAACATCAC	0.572000													14	40					0	0	0.002450	0	0
DSC3	1825	broad.mit.edu	37	18	28587018	28587018	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr18:28587018A>T	ENST00000434452.1	-	12	1897	c.1743T>A	c.(1741-1743)taT>taA	p.Y581*	DSC3_ENST00000360428.4_Nonsense_Mutation_p.Y581*	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	581	Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			AAATGACTACATATTCTTGAA	0.373000													27	40					0	0	0.003954	0	0
GPR125	166647	broad.mit.edu	37	4	22389609	22389609	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:22389609C>A	ENST00000334304.5	-	19	3954	c.3685G>T	c.(3685-3687)Gag>Tag	p.E1229*	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1229					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TACTGTCTCTCTCTGTAGGCT	0.493000													20	82					1.96292e-10	2.59786e-10	0.010504	1	0
NBPF15	284565	broad.mit.edu	37	1	148594439	148594439	+	Silent	SNP	A	A	G	rs146739148	byFrequency	TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:148594439A>G	ENST00000442702.2	+	21	2879	c.1812A>G	c.(1810-1812)ttA>ttG	p.L604L	NBPF15_ENST00000369187.3_Silent_p.L604L	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	604	NBPF 6.					cytoplasm				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					CTGAAGTCTTACAGGACTCAC	0.463000													10	306					0	0	0.010729	0	0
CSMD2	114784	broad.mit.edu	37	1	33992820	33992820	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:33992820C>T	ENST00000373381.4	-	65	10386	c.10210G>A	c.(10210-10212)Gag>Aag	p.E3404K		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3260						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGCGGTGGCTCCCGGGCAGTG	0.507000													12	35					0	0	0.001855	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995855	57995855	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:57995855C>T	ENST00000316770.2	-	1	535	c.493G>A	c.(493-495)Gcc>Acc	p.A165T		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	165					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)				AAGATTAAGGCGGTGAGCTGC	0.652000													6	22					0	0	0.001168	0	0
DYTN	391475	broad.mit.edu	37	2	207569613	207569613	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:207569613C>A	ENST00000452335.2	-	5	553	c.437G>T	c.(436-438)cGc>cTc	p.R146L	DYTN_ENST00000477734.1_5'UTR	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	146						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TCGAGTCATGCGTGGCCCAGA	0.373000													4	21					0.00024832	0.000269641	0.009096	1	0
ZNF775	285971	broad.mit.edu	37	7	150093882	150093882	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:150093882G>T	ENST00000329630.5	+	3	420	c.313G>T	c.(313-315)Ggt>Tgt	p.G105C		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCCGGCGAGGGTCACTTTGT	0.687000													7	10					8.12818e-05	8.99778e-05	0.001984	1	0
NCOA2	10499	broad.mit.edu	37	8	71071833	71071833	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:71071833C>A	ENST00000452400.2	-	10	1212	c.1031G>T	c.(1030-1032)gGc>gTc	p.G344V		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	344					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AACAAGAGTGCCATCAGACAA	0.398000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								43	130					8.69298e-16	1.34366e-15	0.006999	1	0
COL27A1	85301	broad.mit.edu	37	9	117020860	117020860	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr9:117020860G>T	ENST00000356083.3	+	28	3572	c.3181G>T	c.(3181-3183)Gca>Tca	p.A1061S		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1061	Collagen-like 7.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CATGAGGGGAGCAAAGGGACG	0.622000													12	6					1.15088e-07	1.42241e-07	0.004007	1	0
PZP	5858	broad.mit.edu	37	12	9312930	9312930	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:9312930G>A	ENST00000261336.2	-	24	3057	c.3029C>T	c.(3028-3030)gCc>gTc	p.A1010V	PZP_ENST00000381997.2_Missense_Mutation_p.A796V	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ATAGCCAACGGCCTTGGCCTT	0.403000													69	14					0	0	0.003610	0	0
SPOCD1	90853	broad.mit.edu	37	1	32267264	32267264	+	Splice_Site	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:32267264C>T	ENST00000360482.2	-	3	1555		c.e3+1		SPOCD1_ENST00000533231.1_Splice_Site|SPOCD1_ENST00000373648.2_Splice_Site|SPOCD1_ENST00000257100.3_Splice_Site	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1						transcription, DNA-dependent			p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TAAAAACCTACGTAGCACACA	0.502000													10	50					0	0	0.006214	0	0
NAV2	89797	broad.mit.edu	37	11	19854036	19854036	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:19854036A>T	ENST00000396085.1	+	2	635	c.274A>T	c.(274-276)Aca>Tca	p.T92S	NAV2_ENST00000360655.4_Missense_Mutation_p.T28S|NAV2_ENST00000349880.4_Missense_Mutation_p.T92S|NAV2_ENST00000540292.1_Missense_Mutation_p.T23S|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000527559.2_Missense_Mutation_p.T21S|NAV2_ENST00000396087.3_Missense_Mutation_p.T92S	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	92	CH.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACAGATCTACACAGACTGGGC	0.542000													53	64					0	0	0.003610	0	0
AGPAT1	10554	broad.mit.edu	37	6	32138714	32138714	+	Splice_Site	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:32138714C>A	ENST00000395499.1	-	3	913	c.334_splice	c.e3+1	p.G112_splice	AGPAT1_ENST00000375107.3_Splice_Site_p.G112_splice|AGPAT1_ENST00000412465.2_Intron|AGPAT1_ENST00000395496.1_Splice_Site_p.G112_splice|AGPAT1_ENST00000395497.1_Splice_Site_p.G112_splice|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000490711.1_Intron|AGPAT1_ENST00000375104.2_Splice_Site_p.G112_splice|AGPAT1_ENST00000336984.6_Splice_Site_p.G112_splice			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	112					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						GGGGTCTCACCAAGCAGATCG	0.587000													90	23					1.80868e-48	3.55489e-48	0.003610	1	0
SCML2	10389	broad.mit.edu	37	X	18323337	18323337	+	Splice_Site	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chrX:18323337T>C	ENST00000251900.4	-	7	646		c.e7-2			NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)						anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TGGTGGTTCCTATCAAAACAT	0.373000													34	16					0	0	0.003271	0	0
CFAP54	144535	broad.mit.edu	37	12	97078951	97078951	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:97078951G>T	ENST00000524981.3	+	9	1302	c.1302G>T	c.(1300-1302)gaG>gaT	p.E434D				Q6ZTY8	CL063_HUMAN		408										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						ACAGTGAGGAGTTTCTGTCAA	0.493000													24	29					3.6726e-16	5.75482e-16	0.003954	1	0
NEK11	79858	broad.mit.edu	37	3	130799421	130799421	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:130799421G>T	ENST00000383366.4	+	4	618	c.325G>T	c.(325-327)Gag>Tag	p.E109*	NEK11_ENST00000511262.1_Nonsense_Mutation_p.E109*|NEK11_ENST00000510688.1_Nonsense_Mutation_p.E109*|NEK11_ENST00000508196.1_Nonsense_Mutation_p.E109*|NEK11_ENST00000510769.1_Nonsense_Mutation_p.E109*|NEK11_ENST00000507910.1_Nonsense_Mutation_p.E109*|NEK11_ENST00000429253.2_Nonsense_Mutation_p.E109*|NEK11_ENST00000412440.2_Intron|NEK11_ENST00000356918.4_Nonsense_Mutation_p.E109*	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	109	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						CATTATCACGGAGTACTGTGA	0.418000													6	11					0.00116845	0.00124079	0.001168	1	0
ABL2	27	broad.mit.edu	37	1	179095711	179095711	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:179095711G>T	ENST00000502732.1	-	4	691	c.488C>A	c.(487-489)aCc>aAc	p.T163N	ABL2_ENST00000408940.3_Missense_Mutation_p.T127N|ABL2_ENST00000511413.1_Missense_Mutation_p.T163N|ABL2_ENST00000507173.1_Missense_Mutation_p.T142N|ABL2_ENST00000392043.3_Missense_Mutation_p.T142N|ABL2_ENST00000367623.4_Missense_Mutation_p.T142N|ABL2_ENST00000512653.1_Missense_Mutation_p.T148N|ABL2_ENST00000504405.1_Missense_Mutation_p.T127N|ABL2_ENST00000344730.3_Missense_Mutation_p.T148N	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	163	SH3.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GTTCACTGGGGTGATGTAGTT	0.517000			T	ETV6	AML								24	64					1.85244e-09	2.40337e-09	0.003330	1	0
RNGTT	8732	broad.mit.edu	37	6	89600240	89600240	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:89600240T>A	ENST00000369485.4	-	8	1056	c.870A>T	c.(868-870)aaA>aaT	p.K290N	RNGTT_ENST00000538899.1_Missense_Mutation_p.K230N|RNGTT_ENST00000265607.6_Missense_Mutation_p.K290N|RNGTT_ENST00000369475.3_Missense_Mutation_p.K290N	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	290	GTase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TCCAGCTTACTTTGTATGGCT	0.348000													11	6					0	0	0.010729	0	0
MARCH11	441061	broad.mit.edu	37	5	16067808	16067808	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:16067808G>T	ENST00000332432.8	-	4	1180	c.981C>A	c.(979-981)gcC>gcA	p.A327A		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	327						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						CGATGTCTGTGGCTTTGTCAT	0.473000													35	51					9.78485e-24	1.72544e-23	0.002836	1	0
LRP1B	53353	broad.mit.edu	37	2	141143466	141143466	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:141143466G>T	ENST00000389484.3	-	67	11498	c.10527C>A	c.(10525-10527)aaC>aaA	p.N3509K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3509	LDL-receptor class A 25.				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)		ACTTACTACAGTTTTCTTCAT	0.378000										TSP Lung(27;0.18)			10	39					0.000442599	0.00047647	0.006214	1	0
OR5D18	219438	broad.mit.edu	37	11	55587976	55587976	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:55587976T>A	ENST00000333976.4	+	1	891	c.871T>A	c.(871-873)Tac>Aac	p.Y291N		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCCCCTGATCTACAGTCTGAG	0.458000													34	33					0	0	0.002836	0	0
ROBO2	6092	broad.mit.edu	37	3	77671422	77671422	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:77671422C>A	ENST00000461745.1	+	23	4499	c.3599C>A	c.(3598-3600)cCg>cAg	p.P1200Q	ROBO2_ENST00000332191.8_Missense_Mutation_p.P1200Q|ROBO2_ENST00000487694.3_Missense_Mutation_p.P1216Q	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1200					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCAGTTCCACCGTTAGGTTAT	0.408000													39	35					2.66277e-13	3.80569e-13	0.006999	1	0
BZRAP1	9256	broad.mit.edu	37	17	56386583	56386583	+	Silent	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:56386583T>A	ENST00000355701.3	-	22	4920	c.4050A>T	c.(4048-4050)gcA>gcT	p.A1350A	BZRAP1_ENST00000343736.4_Silent_p.A1350A|BZRAP1_ENST00000268893.6_Silent_p.A1290A	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1350						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAGAACAGCCTGCCCCTGAct	0.617000													17	32					0	0	0.004007	0	0
PTPN14	5784	broad.mit.edu	37	1	214546179	214546179	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:214546179C>A	ENST00000366956.5	-	16	3105	c.2911G>T	c.(2911-2913)Gtg>Ttg	p.V971L	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	971	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CCGCCAACCACCACCTAAAAA	0.522000													25	16					9.57634e-11	1.28094e-10	0.003330	1	0
CASKIN1	57524	broad.mit.edu	37	16	2237441	2237441	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr16:2237441G>A	ENST00000343516.6	-	7	731	c.639C>T	c.(637-639)atC>atT	p.I213I		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	213					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGTTAATGTCGATGCCGGCTT	0.677000													17	22					0	0	0.004990	0	0
PLK4	10733	broad.mit.edu	37	4	128804507	128804507	+	Silent	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:128804507T>C	ENST00000270861.5	+	3	491	c.217T>C	c.(217-219)Ttg>Ctg	p.L73L	PLK4_ENST00000515069.1_Silent_p.L73L|PLK4_ENST00000511942.1_3'UTR|PLK4_ENST00000507249.1_Silent_p.L73L|PLK4_ENST00000513090.1_Intron|PLK4_ENST00000514379.1_Silent_p.L32L	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	73	Protein kinase.				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						TCCTTCTATCTTGGAGGTAAG	0.303000													9	16					0	0	0.004482	0	0
MATN4	8785	broad.mit.edu	37	20	43932928	43932928	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr20:43932928G>C	ENST00000537548.1	-	4	827	c.583C>G	c.(583-585)Ctc>Gtc	p.L195V	MATN4_ENST00000342716.4_Missense_Mutation_p.L195V|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000353917.5_Missense_Mutation_p.L195V|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000372754.1_Missense_Mutation_p.L195V|MATN4_ENST00000360607.5_Missense_Mutation_p.L195V|MATN4_ENST00000372756.1_Missense_Mutation_p.L195V			O95460	MATN4_HUMAN	matrilin 4	195	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GACTCTACGAGGAAGACGTGC	0.647000													10	37					0	0	0.001368	0	0
HCN1	348980	broad.mit.edu	37	5	45303797	45303797	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:45303797C>A	ENST00000303230.4	-	6	1579	c.1522G>T	c.(1522-1524)Gtg>Ttg	p.V508L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	508						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.V508M(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTTTTACCCACGGCTCCTTCT	0.393000													22	68					1.28384e-07	1.58361e-07	0.012319	1	0
FST	10468	broad.mit.edu	37	5	52780023	52780023	+	Silent	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:52780023T>C	ENST00000396947.3	+	4	787	c.621T>C	c.(619-621)tgT>tgC	p.C207C	FST_ENST00000256759.3_Silent_p.C207C	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	207	Kazal-like 2.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				AATATCTCTGTGGGAATGATG	0.517000													43	70					0	0	0.010771	0	0
F13B	2165	broad.mit.edu	37	1	197029495	197029495	+	Splice_Site	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:197029495C>A	ENST00000367412.1	-	5	849		c.e5+1			NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide						blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TAAAAATTTACCTTCGCATAC	0.318000													25	35					7.01153e-11	9.39876e-11	0.007291	1	0
FOXN4	121643	broad.mit.edu	37	12	109719578	109719578	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:109719578G>T	ENST00000299162.5	-	9	1032	c.928C>A	c.(928-930)Cgg>Agg	p.R310R	FOXN4_ENST00000355216.1_Silent_p.R130R	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	310					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	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			large_intestine(5)|lung(9)|ovary(2)	16						CTTTCAGGCCGGTCGGAGATC	0.667000													23	19					1.64293e-13	2.37523e-13	0.003330	1	0
OR5D18	219438	broad.mit.edu	37	11	55587975	55587975	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:55587975C>T	ENST00000333976.4	+	1	890	c.870C>T	c.(868-870)atC>atT	p.I290I		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				ATCCCCTGATCTACAGTCTGA	0.453000													33	33					0	0	0.012213	0	0
RBMS1	5937	broad.mit.edu	37	2	161143570	161143570	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:161143570C>A	ENST00000348849.3	-	7	1096	c.666G>T	c.(664-666)aaG>aaT	p.K222N	RBMS1_ENST00000409289.2_Missense_Mutation_p.K189N|RBMS1_ENST00000392753.3_Missense_Mutation_p.K222N|RBMS1_ENST00000409075.1_Missense_Mutation_p.K189N|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409972.1_Missense_Mutation_p.K189N	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	222	RRM 2.				DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								CATCAGCAAACTTACACAATA	0.373000													119	121					6.92432e-61	1.37607e-60	0.003610	1	0
TP53	7157	broad.mit.edu	37	17	7579361	7579361	+	Missense_Mutation	SNP	A	A	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:7579361A>C	ENST00000420246.2	-	4	458	c.326T>G	c.(325-327)tTc>tGc	p.F109C	TP53_ENST00000359597.4_Missense_Mutation_p.F109C|TP53_ENST00000455263.2_Missense_Mutation_p.F109C|TP53_ENST00000413465.2_Missense_Mutation_p.F109C|TP53_ENST00000269305.4_Missense_Mutation_p.F109C|TP53_ENST00000445888.2_Missense_Mutation_p.F109C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	109	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		F -> C (in sporadic cancers; somatic mutation).|F -> L (in a sporadic cancer; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.F109C(4)|p.F109S(4)|p.G59fs*23(3)|p.G108_F109delGF(2)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(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)		GCCCAGACGGAAACCGTAGCT	0.612000		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)			55	13					0	0	0.003610	0	0
COL4A3	1285	broad.mit.edu	37	2	228168586	228168586	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:228168586A>T	ENST00000396578.3	+	45	4129	c.3967A>T	c.(3967-3969)Aat>Tat	p.N1323Y	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|COL4A3_ENST00000468753.1_3'UTR|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1323	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AGAAAAGGGTAATCCTGGATT	0.408000													7	37					0	0	0.003080	0	0
OR11L1	391189	broad.mit.edu	37	1	248004346	248004346	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:248004346G>C	ENST00000355784.2	-	1	908	c.853C>G	c.(853-855)Ctg>Gtg	p.L285V		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	285					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)			ACTGGGTTCAGCAGTGGTGTG	0.438000													28	26					0	0	0.006320	0	0
PAOX	196743	broad.mit.edu	37	10	135193899	135193899	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr10:135193899G>C	ENST00000278060.5	+	2	661	c.578G>C	c.(577-579)tGt>tCt	p.C193S	PAOX_ENST00000368539.4_Intron|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000357296.3_Missense_Mutation_p.C193S|PAOX_ENST00000480071.2_Missense_Mutation_p.C193S	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	331					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)		CTGGAATGCTGTGTGAGCGGC	0.602000													16	21					0	0	0.003163	0	0
ASTN1	460	broad.mit.edu	37	1	176903309	176903309	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:176903309C>A	ENST00000367654.2	-	16	2687	c.2674G>T	c.(2674-2676)Gag>Tag	p.E892*	ASTN1_ENST00000424564.2_Nonsense_Mutation_p.E884*|ASTN1_ENST00000367657.3_Nonsense_Mutation_p.E884*|ASTN1_ENST00000361833.2_Nonsense_Mutation_p.E884*			O14525	ASTN1_HUMAN	astrotactin 1	892					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCTTCATACTCCAGCCAGAGT	0.483000													35	22					5.8336e-16	9.09548e-16	0.003271	1	0
PRAC1	84366	broad.mit.edu	37	17	46799746	46799746	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:46799746G>T	ENST00000290294.3	-	1	138	c.9C>A	c.(7-9)tgC>tgA	p.C3*		NM_032391.2	NP_115767.1	Q96KF2	PRAC_HUMAN		3						nucleus				kidney(1)|lung(2)	3						AGAAATGGGCGCACAACATCG	0.532000													23	13					6.21321e-17	9.8219e-17	0.002780	1	0
CCKAR	886	broad.mit.edu	37	4	26484829	26484829	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr4:26484829C>G	ENST00000295589.3	-	4	897	c.703G>C	c.(703-705)Gaa>Caa	p.E235Q		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	235					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TGGTAGAGTTCCAAAGAGATT	0.383000													20	59					0	0	0.010504	0	0
DPP6	1804	broad.mit.edu	37	7	154561225	154561225	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:154561225C>A	ENST00000404039.1	+	9	1377	c.790C>A	c.(790-792)Ctc>Atc	p.L264I	DPP6_ENST00000332007.3_Missense_Mutation_p.L266I|DPP6_ENST00000377770.3_Missense_Mutation_p.L328I|DPP6_ENST00000427557.1_Missense_Mutation_p.L221I	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	328					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CATCATGGAGCTCCCAACTTA	0.527000													20	18					8.34094e-07	1.00509e-06	0.008871	1	0
ZFHX4	79776	broad.mit.edu	37	8	77776298	77776298	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:77776298C>A	ENST00000521891.2	+	11	10796	c.10348C>A	c.(10348-10350)Ctt>Att	p.L3450I	ZFHX4_ENST00000518282.1_Missense_Mutation_p.L3424I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L3401I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L3405I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3401						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)			ATATCAGTGTCTTGCCTGTGA	0.453000										HNSCC(33;0.089)			20	63					1.64113e-05	1.86961e-05	0.010504	1	0
SCLY	51540	broad.mit.edu	37	2	239003163	239003163	+	Splice_Site	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:239003163G>T	ENST00000254663.6	+	10	1274	c.1132_splice	c.e10+1	p.G378_splice	SCLY_ENST00000429612.2_Splice_Site_p.G164_splice|SCLY_ENST00000422984.2_Splice_Site_p.G276_splice|SCLY_ENST00000555827.1_Splice_Site_p.G370_splice	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN	selenocysteine lyase	370					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		CCGGCTTCAAGGTGATGGCCC	0.587000													51	37					4.64027e-19	7.63418e-19	0.003610	1	0
RAVER1	125950	broad.mit.edu	37	19	10444188	10444188	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:10444188G>A	ENST00000293677.6	-	1	128	c.47C>T	c.(46-48)cCc>cTc	p.P16L		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	0						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CGCCATCTTGGGAAACCCGGC	0.716000													26	5					0	0	0.003954	0	0
PTPRB	5787	broad.mit.edu	37	12	70949882	70949882	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:70949882C>A	ENST00000334414.6	-	19	4805	c.4761G>T	c.(4759-4761)acG>acT	p.T1587T	PTPRB_ENST00000550358.1_Silent_p.T1499T|PTPRB_ENST00000550857.1_Silent_p.T1279T|PTPRB_ENST00000451516.2_Silent_p.T1279T|PTPRB_ENST00000261266.5_Silent_p.T1369T|PTPRB_ENST00000538708.1_Silent_p.T1279T	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1369					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGGCAATGGCCGTGGAGTTCT	0.443000													23	20					7.87624e-14	1.15604e-13	0.002780	1	0
OR51A4	401666	broad.mit.edu	37	11	4967892	4967892	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:4967892C>A	ENST00000380373.2	-	1	464	c.439G>T	c.(439-441)Ggg>Tgg	p.G147W	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATACTATCCCTATTTGGGCA	0.423000													28	246					9.04072e-19	1.48543e-18	0.003271	1	0
CADM3	57863	broad.mit.edu	37	1	159163275	159163275	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:159163275A>T	ENST00000368125.4	+	4	602	c.445A>T	c.(445-447)Acc>Tcc	p.T149S	CADM3_ENST00000368124.4_Missense_Mutation_p.T183S	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	149	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					AGACACAGCCACCCTAAACTG	0.527000													36	29					0	0	0.003755	0	0
DIDO1	11083	broad.mit.edu	37	20	61542655	61542655	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr20:61542655C>A	ENST00000266070.4	-	3	635	c.310G>T	c.(310-312)Gcc>Tcc	p.A104S	DIDO1_ENST00000370371.4_Missense_Mutation_p.A104S|DIDO1_ENST00000370368.1_Missense_Mutation_p.A104S|DIDO1_ENST00000354665.4_Missense_Mutation_p.A104S|DIDO1_ENST00000395340.1_Missense_Mutation_p.A104S|DIDO1_ENST00000266071.5_Missense_Mutation_p.A104S|DIDO1_ENST00000395343.1_Missense_Mutation_p.A104S|DIDO1_ENST00000395335.2_Missense_Mutation_p.A104S|DIDO1_ENST00000370366.1_Missense_Mutation_p.A104S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	104					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCGTCTGTGGCGGGGCAGGAC	0.662000													17	20					1.5739e-10	2.08963e-10	0.004007	1	0
ROR1	4919	broad.mit.edu	37	1	64644039	64644039	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:64644039C>A	ENST00000371079.1	+	9	2690	c.2315C>A	c.(2314-2316)tCc>tAc	p.S772Y	ROR1_ENST00000545203.1_Missense_Mutation_p.S223Y	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	772	Ser/Thr-rich.				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						CAGACAACCTCCCTCAGTGCC	0.512000													16	29					1.3612e-06	1.62928e-06	0.003163	1	0
SPACA7	122258	broad.mit.edu	37	13	113052421	113052421	+	Silent	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr13:113052421A>G	ENST00000375699.3	+	2	289	c.117A>G	c.(115-117)ccA>ccG	p.P39P	SPACA7_ENST00000283550.3_Silent_p.P70P			Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	70						extracellular region				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						GCGAAATGCCAAGTACAGCAT	0.448000													18	34					0	0	0.012319	0	0
DSEL	92126	broad.mit.edu	37	18	65181399	65181399	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr18:65181399C>T	ENST00000310045.7	-	2	1950	c.477G>A	c.(475-477)atG>atA	p.M159I		NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	149						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CCATCCTGTCCATATATTCCA	0.418000													11	45					0	0	0.001368	0	0
CLCN1	1180	broad.mit.edu	37	7	143016925	143016925	+	Silent	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:143016925T>C	ENST00000343257.2	+	2	345	c.258T>C	c.(256-258)tcT>tcC	p.S86S		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	86					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GCTCCAGTTCTACCGTGGACA	0.458000													36	60					0	0	0.006230	0	0
SAMHD1	25939	broad.mit.edu	37	20	35540893	35540893	+	Silent	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr20:35540893T>C	ENST00000262878.4	-	10	1324	c.1125A>G	c.(1123-1125)caA>caG	p.Q375Q	SAMHD1_ENST00000373694.5_Silent_p.Q160Q	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	375					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				CAACTTTGTGTTGATAAGCTC	0.353000													5	12					0	0	0.000602	0	0
NES	10763	broad.mit.edu	37	1	156640063	156640063	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:156640063C>A	ENST00000368223.3	-	4	4049	c.3917G>T	c.(3916-3918)aGg>aTg	p.R1306M		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1306	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGTGGGGGACCTGAGGTAGAA	0.662000													28	69					1.75199e-13	2.53401e-13	0.007291	1	0
NAV3	89795	broad.mit.edu	37	12	78510663	78510663	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:78510663C>A	ENST00000397909.2	+	13	2921	c.2748C>A	c.(2746-2748)gtC>gtA	p.V916V	NAV3_ENST00000228327.6_Silent_p.V916V|NAV3_ENST00000266692.7_Silent_p.V916V|NAV3_ENST00000536525.2_Silent_p.V916V			Q8IVL0	NAV3_HUMAN	neuron navigator 3	916						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						ACATCACCGTCCCCTCTAGGA	0.433000										HNSCC(70;0.22)			45	55					4.75955e-12	6.6096e-12	0.003610	1	0
CPD	1362	broad.mit.edu	37	17	28758816	28758816	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:28758816G>C	ENST00000225719.4	+	8	2120	c.2044G>C	c.(2044-2046)Gat>Cat	p.D682H	CPD_ENST00000543464.2_Missense_Mutation_p.D435H	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	682	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CTACCCTTTTGATGATGATGA	0.353000													8	32					0	0	0.003080	0	0
BRINP1	1620	broad.mit.edu	37	9	121971074	121971074	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr9:121971074G>T	ENST00000265922.3	-	7	1529	c.1068C>A	c.(1066-1068)atC>atA	p.I356I	DBC1_ENST00000482797.1_5'UTR	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		356					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CAGTGCGTTGGATCTTTTGTC	0.577000													32	17					6.38683e-12	8.85961e-12	0.008361	1	0
ANLN	54443	broad.mit.edu	37	7	36438854	36438854	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:36438854C>T	ENST00000265748.2	+	3	560	c.339C>T	c.(337-339)atC>atT	p.I113I	ANLN_ENST00000396068.2_Silent_p.I113I	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	113	Interaction with CD2AP.|Nuclear localization.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CAGATACCATCAGTGATTCTG	0.488000													18	26					0	0	0.006122	0	0
SPTBN1	6711	broad.mit.edu	37	2	54858121	54858121	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:54858121G>T	ENST00000333896.5	+	15	3283	c.2898G>T	c.(2896-2898)gaG>gaT	p.E966D	SPTBN1_ENST00000356805.4_Missense_Mutation_p.E979D	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	979					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGGTCATCGAGTCCACCCAGG	0.582000													16	16					6.31663e-08	7.8504e-08	0.003163	1	0
DOCK10	55619	broad.mit.edu	37	2	225652116	225652116	+	Splice_Site	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:225652116T>A	ENST00000409592.3	-	49	5514		c.e49-2		DOCK10_ENST00000258390.7_Splice_Site			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10								GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CAGGATATTCTGCAATTCCCC	0.433000													57	132					0	0	0.003610	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122349007	122349007	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:122349007C>A	ENST00000398250.1	+	7	1161	c.809C>A	c.(808-810)cCg>cAg	p.P270Q	PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.P260Q|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.P207Q|PPAPDC1A_ENST00000398248.1_3'UTR	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	270					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		ACCGAAGGCCCGGTATGACCA	0.542000													18	21					1.45105e-14	2.1818e-14	0.006122	1	0
KIAA2022	340533	broad.mit.edu	37	X	73961650	73961650	+	Missense_Mutation	SNP	A	A	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chrX:73961650A>C	ENST00000373468.1	-	3	3393	c.2742T>G	c.(2740-2742)agT>agG	p.S914R	KIAA2022_ENST00000055682.5_Missense_Mutation_p.S914R			Q5QGS0	K2022_HUMAN	KIAA2022	914					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTCCAAATTCACTGGATTGGG	0.458000													13	19					0	0	0.002450	0	0
ABCA13	154664	broad.mit.edu	37	7	48563910	48563910	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:48563910G>T	ENST00000435803.1	+	54	14142	c.14118G>T	c.(14116-14118)aaG>aaT	p.K4706N	ABCA13_ENST00000544596.1_Missense_Mutation_p.K436N	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4706					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAGAGGAAAAGAGAGTGTTTG	0.383000													14	14					9.31168e-06	1.07423e-05	0.001855	1	0
TMPRSS12	283471	broad.mit.edu	37	12	51281254	51281254	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:51281254C>A	ENST00000398458.3	+	5	1037	c.1005C>A	c.(1003-1005)atC>atA	p.I335I	TMPRSS12_ENST00000551456.1_3'UTR	NM_182559.2	NP_872365.1	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	335					proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						GTGGCCAGATCCTCATAGCTT	0.363000													53	71					1.46156e-29	2.69925e-29	0.003610	1	0
TMEM119	338773	broad.mit.edu	37	12	108985685	108985685	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:108985685C>T	ENST00000392806.3	-	2	643	c.475G>A	c.(475-477)Gac>Aac	p.D159N		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	159						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						GGCCTGCTGTCGGGGGCTCTG	0.677000													13	26					0	0	0.002450	0	0
GPR116	221395	broad.mit.edu	37	6	46826559	46826559	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:46826559C>A	ENST00000283296.7	-	17	3369	c.3081G>T	c.(3079-3081)ttG>ttT	p.L1027F	GPR116_ENST00000265417.7_Missense_Mutation_p.L1027F|GPR116_ENST00000456426.2_Missense_Mutation_p.L885F|GPR116_ENST00000362015.4_Missense_Mutation_p.L1027F|GPR116_ENST00000545669.1_Missense_Mutation_p.L456F	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1027					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GACAGGCTGCCAAGCTCAAGA	0.507000													30	5					5.60225e-13	7.9651e-13	0.009535	1	0
LPHN3	23284	broad.mit.edu	37	4	62542546	62542546	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr4:62542546G>T	ENST00000512091.1	+	5	1019	c.272G>T	c.(271-273)tGc>tTc	p.C91F	LPHN3_ENST00000507625.1_Missense_Mutation_p.C159F|LPHN3_ENST00000508946.1_Missense_Mutation_p.C91F|LPHN3_ENST00000506746.1_Missense_Mutation_p.C159F|LPHN3_ENST00000507164.1_Missense_Mutation_p.C159F|LPHN3_ENST00000509896.1_Missense_Mutation_p.C159F|LPHN3_ENST00000508693.1_Missense_Mutation_p.C159F|LPHN3_ENST00000506720.1_Missense_Mutation_p.C159F|LPHN3_ENST00000504896.1_Missense_Mutation_p.C91F|LPHN3_ENST00000506700.1_Missense_Mutation_p.C91F|LPHN3_ENST00000514157.1_Missense_Mutation_p.C91F|LPHN3_ENST00000514591.1_Missense_Mutation_p.C91F|LPHN3_ENST00000511324.1_Missense_Mutation_p.C159F|LPHN3_ENST00000545650.1_Missense_Mutation_p.C91F|LPHN3_ENST00000514996.1_Missense_Mutation_p.C91F			Q9HAR2	LPHN3_HUMAN	latrophilin 3	91	SUEL-type lectin.				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						GACTTCAGATGCAATAACAGA	0.368000													86	26					3.64303e-30	6.73799e-30	0.003610	1	0
OTOP2	92736	broad.mit.edu	37	17	72927022	72927022	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:72927022G>T	ENST00000331427.4	+	6	1384	c.1292G>T	c.(1291-1293)gGg>gTg	p.G431V	OTOP2_ENST00000580223.1_Missense_Mutation_p.G431V	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	431						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					GGACCGCCCGGGGCTGAGCCT	0.622000													23	71					2.52088e-20	4.23751e-20	0.002780	1	0
BTN2A3P	54718	broad.mit.edu	37	6	26431538	26431538	+	RNA	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:26431538C>G	ENST00000466808.2	+	0	1486																											GGGCTGGACACTTCACAGAGC	0.562000													48	14					0	0	0.013114	0	0
RTN4RL1	146760	broad.mit.edu	37	17	1840431	1840431	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:1840431A>G	ENST00000331238.5	-	2	703	c.685T>C	c.(685-687)Ttc>Ctc	p.F229L		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1	229					axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						CTGTTGTTGAAGAGGAAGAGG	0.642000													5	17					0	0	0.000602	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24465654	24465654	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr13:24465654G>T	ENST00000382137.3	-	3	844	c.776C>A	c.(775-777)tCc>tAc	p.S259Y	C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.S259Y|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382145.1_Intron	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	259	C1q.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						AACATTCCTGGAGAAAACAGT	0.453000													10	77					9.31168e-06	1.07423e-05	0.001855	1	0
NEK8	284086	broad.mit.edu	37	17	27065225	27065225	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:27065225A>T	ENST00000268766.6	+	8	1218	c.1184A>T	c.(1183-1185)cAc>cTc	p.H395L	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	395						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					ACCATCAAGCACGTGGCCTGT	0.627000													16	42					0	0	0.008871	0	0
SBNO1	55206	broad.mit.edu	37	12	123801821	123801821	+	Missense_Mutation	SNP	A	A	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:123801821A>C	ENST00000420886.2	-	20	2881	c.2882T>G	c.(2881-2883)gTt>gGt	p.V961G	SBNO1_ENST00000267176.4_Missense_Mutation_p.V960G|SBNO1_ENST00000602750.1_Missense_Mutation_p.V960G|SBNO1_ENST00000602398.1_Missense_Mutation_p.V961G	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	961							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		AGTCATATGAACTCTTCGCCT	0.383000													11	58					0	0	0.008291	0	0
SLC15A1	6564	broad.mit.edu	37	13	99354750	99354750	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr13:99354750C>A	ENST00000376503.5	-	18	1505	c.1450G>T	c.(1450-1452)Ggg>Tgg	p.G484W		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	484					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	CCATTTTCCCCTTTTTCTGGC	0.289000													9	16					0.000274275	0.000296245	0.004482	1	0
OR10S1	219873	broad.mit.edu	37	11	123847819	123847819	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:123847819C>A	ENST00000531945.1	-	1	669	c.580G>T	c.(580-582)Gac>Tac	p.D194Y		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D194N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		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)		GGGGGTATGTCGCAGAAGAAG	0.567000													36	27					7.11191e-15	1.07709e-14	0.002836	1	0
ASIC2	40	broad.mit.edu	37	17	31618776	31618776	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:31618776C>T	ENST00000225823.2	-	1	1230	c.358G>A	c.(358-360)Gtg>Atg	p.V120M	ASIC2_ENST00000359872.6_Intron	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	76					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	TCGCGGTGCACCCGCGTGTGT	0.642000													8	29					0	0	0.003080	0	0
ADCY1	107	broad.mit.edu	37	7	45701758	45701758	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:45701758T>A	ENST00000297323.7	+	8	1572	c.1550T>A	c.(1549-1551)aTg>aAg	p.M517K	ADCY1_ENST00000432715.1_Missense_Mutation_p.M292K	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	517	Interaction with calmodulin (By similarity).				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	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TGCCGGAAAATGTTCAAGGCC	0.532000													9	34					0	0	0.004482	0	0
OR2D2	120776	broad.mit.edu	37	11	6913706	6913706	+	Missense_Mutation	SNP	A	A	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:6913706A>C	ENST00000299459.2	-	1	124	c.26T>G	c.(25-27)gTg>gGg	p.V9G		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GAATTCTGTCACTTGTGTCTG	0.408000													13	21					0	0	0.001855	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834677	125834677	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:125834677G>T	ENST00000299308.3	+	2	740	c.732G>T	c.(730-732)tcG>tcT	p.S244S		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	244						integral to membrane		p.S244S(2)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ATATCCACTCGGGCCTGGAGA	0.592000													38	74					1.57351e-24	2.79488e-24	0.003755	1	0
POM121	9883	broad.mit.edu	37	7	72413237	72413237	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:72413237C>G	ENST00000395270.1	+	14	2951	c.1910C>G	c.(1909-1911)tCc>tGc	p.S637C	POM121_ENST00000257622.4_Missense_Mutation_p.S637C|POM121_ENST00000446813.1_Missense_Mutation_p.S637C|POM121_ENST00000358357.3_Missense_Mutation_p.S637C|POM121_ENST00000434423.2_Missense_Mutation_p.S902C	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	902	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TTCAGCCAGTCCCTGCACACT	0.647000													32	232					0	0	0.002836	0	0
FAM71C	196472	broad.mit.edu	37	12	100042540	100042540	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:100042540G>A	ENST00000324341.1	+	1	1010	c.588G>A	c.(586-588)gtG>gtA	p.V196V	ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	196										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		ACTCATCTGTGTTGGAGGAAG	0.517000													19	21					0	0	0.007413	0	0
ANLN	54443	broad.mit.edu	37	7	36438851	36438851	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:36438851C>T	ENST00000265748.2	+	3	557	c.336C>T	c.(334-336)acC>acT	p.T112T	ANLN_ENST00000396068.2_Silent_p.T112T	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	112	Interaction with CD2AP.|Nuclear localization.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CAGCAGATACCATCAGTGATT	0.478000													19	25					0	0	0.006122	0	0
FN1	2335	broad.mit.edu	37	2	216248813	216248813	+	Silent	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:216248813A>T	ENST00000354785.4	-	30	5193	c.4824T>A	c.(4822-4824)acT>acA	p.T1608T	FN1_ENST00000446046.1_Silent_p.T1517T|FN1_ENST00000357867.4_Silent_p.T1517T|FN1_ENST00000357009.2_Silent_p.T1517T|FN1_ENST00000356005.4_Silent_p.T1517T|FN1_ENST00000432072.2_Silent_p.T1608T|FN1_ENST00000345488.5_Silent_p.T1517T|FN1_ENST00000336916.4_Silent_p.T1517T|FN1_ENST00000323926.6_Silent_p.T1608T|FN1_ENST00000443816.1_Silent_p.T1517T|FN1_ENST00000359671.1_Silent_p.T1517T|FN1_ENST00000421182.1_Silent_p.T1517T|FN1_ENST00000346544.3_Silent_p.T1517T			P02751	FINC_HUMAN	fibronectin 1	1611	Fibronectin type-III 11.				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)	CAGCATACACAGTGATGGTAT	0.507000													25	62					0	0	0.004656	0	0
ANO4	121601	broad.mit.edu	37	12	101436247	101436247	+	Splice_Site	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:101436247G>T	ENST00000392979.3	+	11	1410		c.e11+1		ANO4_ENST00000299222.9_Splice_Site|ANO4_ENST00000392977.3_Splice_Site	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4							chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GCCAAGTCAGGTACGGGGAGC	0.488000										HNSCC(74;0.22)			48	56					3.73128e-16	5.85611e-16	0.003610	1	0
ATXN2L	11273	broad.mit.edu	37	16	28842109	28842109	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr16:28842109G>T	ENST00000336783.4	+	9	1375	c.1208G>T	c.(1207-1209)gGa>gTa	p.G403V	ATXN2L_ENST00000395547.2_Missense_Mutation_p.G403V|ATXN2L_ENST00000325215.6_Missense_Mutation_p.G403V|ATXN2L_ENST00000382686.4_Missense_Mutation_p.G403V|ATXN2L_ENST00000570200.1_Missense_Mutation_p.G403V|ATXN2L_ENST00000564304.1_Missense_Mutation_p.G403V|ATXN2L_ENST00000340394.8_Missense_Mutation_p.G403V|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	403						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GGTATCAATGGAGGTGAGTTA	0.602000													12	25					3.07112e-06	3.61274e-06	0.010729	1	0
ERBB2IP	55914	broad.mit.edu	37	5	65321770	65321770	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:65321770G>T	ENST00000284037.5	+	12	1374	c.985G>T	c.(985-987)Gct>Tct	p.A329S	ERBB2IP_ENST00000380935.1_Missense_Mutation_p.A329S|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.A329S|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.A329S|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.A329S|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.A329S|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.A329S|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.A329S|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.A329S|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.A329S	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	329					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AACTTTTGCTGCTGATCATAA	0.318000													3	11					1.23904e-05	1.42025e-05	0.000602	1	0
SLC7A13	157724	broad.mit.edu	37	8	87229998	87229998	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:87229998C>A	ENST00000297524.3	-	3	983	c.880G>T	c.(880-882)Gct>Tct	p.A294S	SLC7A13_ENST00000520624.1_5'UTR|SLC7A13_ENST00000419776.2_Missense_Mutation_p.A285S	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	294						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GTAGAAATAGCAAAAGGCATA	0.373000													45	144					1.76056e-25	3.16749e-25	0.011902	1	0
OR4L1	122742	broad.mit.edu	37	14	20529044	20529044	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr14:20529044T>A	ENST00000315683.1	+	1	841	c.841T>A	c.(841-843)Tta>Ata	p.L281I		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TATCACACCCTTACTGAATCC	0.353000													9	21					0	0	0.001368	0	0
RAB19	401409	broad.mit.edu	37	7	140125837	140125837	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:140125837G>A	ENST00000275874.5	+	5	880	c.682G>A	c.(682-684)Gcg>Acg	p.A228T	RAB19_ENST00000356407.3_Missense_Mutation_p.A181T|RAB19_ENST00000537763.1_Missense_Mutation_p.A181T			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	181					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					GGAGCTGATCGCGCGCAACAG	0.572000													21	67					0	0	0.008871	0	0
C1orf50	79078	broad.mit.edu	37	1	43241011	43241011	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:43241011G>T	ENST00000372525.5	+	5	589	c.546G>T	c.(544-546)caG>caT	p.Q182H	C1orf50_ENST00000468913.2_3'UTR|C1orf50_ENST00000536543.1_5'UTR	NM_024097.3	NP_077002.2	Q9BV19	CA050_HUMAN	chromosome 1 open reading frame 50	182										large_intestine(2)|ovary(1)|pancreas(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGCTAAGCCAGTCAGTGGCCC	0.517000													50	11					9.52127e-25	1.69598e-24	0.003610	1	0
DNASE1L3	1776	broad.mit.edu	37	3	58190582	58190582	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:58190582C>T	ENST00000483681.1	-	6	928	c.347G>A	c.(346-348)aGt>aAt	p.S116N	DNASE1L3_ENST00000486455.1_Missense_Mutation_p.S86N|DNASE1L3_ENST00000394549.2_Missense_Mutation_p.S116N|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.S116N			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	116					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)		GTAGTGATAACTCCTCTTCAC	0.478000													15	9					0	0	0.003163	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711781	155711781	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:155711781C>A	ENST00000295101.2	+	3	1939	c.1462C>A	c.(1462-1464)Ctt>Att	p.L488I		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	488					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GGAAGGGAACCTTCCAGCCAA	0.413000													9	17					0.00448238	0.00470763	0.004482	1	0
SORCS1	114815	broad.mit.edu	37	10	108434840	108434840	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:108434840A>T	ENST00000263054.6	-	14	1914	c.1907T>A	c.(1906-1908)cTg>cAg	p.L636Q	SORCS1_ENST00000344440.6_Missense_Mutation_p.L636Q|SORCS1_ENST00000369698.1_Missense_Mutation_p.L171Q	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	636						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)		AGGCTCACCCAGAACCCCATC	0.373000													24	32					0	0	0.007291	0	0
MARCH11	441061	broad.mit.edu	37	5	16067809	16067809	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:16067809G>T	ENST00000332432.8	-	4	1179	c.980C>A	c.(979-981)gCc>gAc	p.A327D		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	327						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						GATGTCTGTGGCTTTGTCATA	0.468000													35	53					9.78485e-24	1.7282e-23	0.002836	1	0
SCN8A	6334	broad.mit.edu	37	12	52163671	52163671	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:52163671C>A	ENST00000354534.5	+	18	3570	c.3392C>A	c.(3391-3393)tCc>tAc	p.S1131Y	SCN8A_ENST00000545061.1_Missense_Mutation_p.S1131Y	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1131					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GACACCAGCTCCTCTGAAGGA	0.512000													6	7					2.0095e-06	2.39081e-06	0.001984	1	0
GABRB2	2561	broad.mit.edu	37	5	160761777	160761777	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:160761777C>A	ENST00000274547.2	-	8	1031	c.814G>T	c.(814-816)Gct>Tct	p.A272S	GABRB2_ENST00000520240.1_Missense_Mutation_p.A272S|GABRB2_ENST00000353437.6_Missense_Mutation_p.A272S|GABRB2_ENST00000517547.1_Missense_Mutation_p.A112S|GABRB2_ENST00000517901.1_Missense_Mutation_p.A209S|GABRB2_ENST00000393959.1_Missense_Mutation_p.A272S	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	272					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ACCCTTGCAGCTGAAGCATCG	0.438000													19	10					4.96729e-08	6.18568e-08	0.008871	1	0
SNX19	399979	broad.mit.edu	37	11	130781541	130781541	+	Silent	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:130781541T>C	ENST00000265909.4	-	2	2369	c.1800A>G	c.(1798-1800)cgA>cgG	p.R600R	SNX19_ENST00000539184.1_Silent_p.R43R|SNX19_ENST00000530356.1_5'UTR|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000533214.1_Silent_p.R600R|SNX19_ENST00000528555.1_5'UTR	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	600	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TGATGAACTTTCGTAGATCTG	0.562000													21	35					0	0	0.010504	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51628390	51628390	+	Silent	SNP	T	T	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:51628390T>G	ENST00000440804.3	+	1	226	c.159T>G	c.(157-159)ccT>ccG	p.P53P	SIGLEC9_ENST00000250360.3_Silent_p.P53P	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	53	Ig-like V-type.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GGATTTACCCTGGCCCAGTAG	0.587000													40	4					0	0	0.006999	0	0
LACTB2	51110	broad.mit.edu	37	8	71556426	71556426	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:71556426C>G	ENST00000276590.4	-	4	502	c.466G>C	c.(466-468)Gag>Cag	p.E156Q	LACTB2_ENST00000517601.1_5'UTR|RP11-382J12.1_ENST00000518553.1_Intron|LACTB2_ENST00000522447.1_Missense_Mutation_p.E156Q|RP11-382J12.1_ENST00000499227.2_Intron	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	lactamase, beta 2	156							hydrolase activity|metal ion binding			endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GCATTTTCCTCTTCTAAGAGT	0.368000													47	350					0	0	0.003610	0	0
CHIT1	1118	broad.mit.edu	37	1	203192738	203192738	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:203192738G>T	ENST00000367229.1	-	5	399	c.365C>A	c.(364-366)tCg>tAg	p.S122*	CHIT1_ENST00000535569.1_Nonsense_Mutation_p.S113*|CHIT1_ENST00000255427.3_Nonsense_Mutation_p.S103*|CHIT1_ENST00000484834.1_5'UTR	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	122					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CCTGATGGCCGAGTTGACAAA	0.577000													29	103					4.59853e-10	6.05095e-10	0.005443	1	0
METTL16	79066	broad.mit.edu	37	17	2381013	2381013	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:2381013C>T	ENST00000263092.5	-	3	422	c.295G>A	c.(295-297)Gac>Aac	p.D99N	METTL16_ENST00000571669.1_5'UTR|METTL16_ENST00000538844.1_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	99							methyltransferase activity			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						GTACTTTTGTCAGAATCCTGG	0.358000													19	53					0	0	0.007413	0	0
HSD3B7	80270	broad.mit.edu	37	16	30998017	30998017	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr16:30998017G>T	ENST00000262520.6	+	5	813	c.523G>T	c.(523-525)Ggg>Tgg	p.G175W	HSD3B7_ENST00000353250.5_Missense_Mutation_p.G175W|HSD3B7_ENST00000297679.5_Missense_Mutation_p.G175W	NM_001142777.1	NP_001136249.1	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	175					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGAGGCCAACGGGAGGAAGGT	0.657000													25	43					1.96895e-08	2.48147e-08	0.002780	1	0
FCAR	2204	broad.mit.edu	37	19	55399576	55399576	+	Silent	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:55399576A>T	ENST00000355524.3	+	4	574	c.564A>T	c.(562-564)tcA>tcT	p.S188S	FCAR_ENST00000391723.3_Silent_p.S176S|FCAR_ENST00000391724.3_Silent_p.S176S|FCAR_ENST00000391726.3_Intron|FCAR_ENST00000469767.1_Silent_p.S188S|FCAR_ENST00000391725.3_Silent_p.S188S|FCAR_ENST00000345937.4_Intron|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000359272.4_Silent_p.S176S|FCAR_ENST00000353758.4_Silent_p.S79S	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	188	Ig-like C2-type 2.				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		TCAATGTCTCAGGGATCTACA	0.557000													15	7					0	0	0.003163	0	0
OR4D11	219986	broad.mit.edu	37	11	59271345	59271345	+	Silent	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:59271345A>G	ENST00000313253.1	+	1	297	c.297A>G	c.(295-297)acA>acG	p.T99T		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						GCTGCATGACACAGATATTTC	0.473000													31	104					0	0	0.009535	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455382	187455382	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr4:187455382G>C	ENST00000307161.5	-	2	715	c.514C>G	c.(514-516)Ccg>Gcg	p.P172A	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	172					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	TAGATCCTCGGGTCGTACTGG	0.597000													17	13					0	0	0.006122	0	0
TRBV7-7	28591	broad.mit.edu	37	7	142120086	142120086	+	RNA	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:142120086G>T	ENST00000390377.1	-	0	80																											CTTTGTACCTGGGAGACTGGG	0.478000													9	37					7.48243e-07	9.03947e-07	0.006214	1	0
LRRC37A3	374819	broad.mit.edu	37	17	62865265	62865265	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:62865265G>A	ENST00000584306.1	-	8	3456	c.2926C>T	c.(2926-2928)Ctg>Ttg	p.L976L	LRRC37A3_ENST00000400877.3_Silent_p.L14L|LRRC37A3_ENST00000319651.5_Silent_p.L976L|LRRC37A3_ENST00000339474.5_Silent_p.L94L	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	976						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ACAGTTGTCAGAGGATTGTGA	0.299000													21	74					0	0	0.012319	0	0
PDE6A	5145	broad.mit.edu	37	5	149247310	149247310	+	Missense_Mutation	SNP	G	G	T	rs143080578		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:149247310G>T	ENST00000255266.5	-	19	2371	c.2252C>A	c.(2251-2253)aCg>aAg	p.T751K		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	751					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TTGCAGCACCGTGCGCTCCAG	0.557000													14	5					3.27435e-08	4.09376e-08	0.002450	1	0
TMEM225	338661	broad.mit.edu	37	11	123754046	123754046	+	Silent	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:123754046G>C	ENST00000375026.2	-	4	693	c.477C>G	c.(475-477)ctC>ctG	p.L159L		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	159						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TGCACTCTAGGAGAGAGAGGA	0.443000													6	23					0	0	0.001984	0	0
BEND4	389206	broad.mit.edu	37	4	42145613	42145613	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr4:42145613G>C	ENST00000502486.1	-	3	1465	c.886C>G	c.(886-888)Cca>Gca	p.P296A	BEND4_ENST00000504360.1_Missense_Mutation_p.P292A	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	296										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						GACGTTGCTGGGGAAGTCCAG	0.557000													6	5					0	0	0.001168	0	0
CCL15	6359	broad.mit.edu	37	17	34325410	34325410	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:34325410C>T	ENST00000354059.4	-	3	706	c.154G>A	c.(154-156)Gac>Aac	p.D52N	CCL14_ENST00000536149.1_5'UTR|CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.D52N	NM_032965.4	NP_116741.1	Q16663	CCL15_HUMAN	chemokine (C-C motif) ligand 15	52					cell-cell signaling|cellular calcium ion homeostasis|immune response	extracellular space	chemoattractant activity|chemokine activity|heparin binding|signal transducer activity			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTGCAGCAGTCAGCAGCAAAG	0.493000													3	9					0	0	0.009096	0	0
MUC5B	727897	broad.mit.edu	37	11	1263868	1263868	+	Missense_Mutation	SNP	A	A	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:1263868A>C	ENST00000447027.1	+	31	5825	c.5767A>C	c.(5767-5769)Act>Cct	p.T1923P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T1920P			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1920	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GACTGCGTCCACTGGATCCAC	0.647000													33	65					0	0	0.003755	0	0
CACNA1E	777	broad.mit.edu	37	1	181620493	181620493	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:181620493C>A	ENST00000526775.1	+	7	1136	c.971C>A	c.(970-972)gCc>gAc	p.A324D	CACNA1E_ENST00000367573.2_Missense_Mutation_p.A324D|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A275D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A324D|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A324D|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A275D	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	324					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCCTTAGGAGCCACCTGGAAT	0.448000													17	57					9.16793e-09	1.1648e-08	0.004990	1	0
MGAM	8972	broad.mit.edu	37	7	141730165	141730165	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:141730165G>A	ENST00000475668.2	+	11	1279	c.1225G>A	c.(1225-1227)Gtt>Att	p.V409I	MGAM_ENST00000549489.2_Missense_Mutation_p.V409I			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	409	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTTTCAGGATGTTCAGCATGC	0.338000													9	10					0	0	0.008291	0	0
MAP3K19	80122	broad.mit.edu	37	2	135781051	135781051	+	Missense_Mutation	SNP	G	G	T	rs146771223	by1000genomes	TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:135781051G>T	ENST00000392915.1	-	1	168	c.49C>A	c.(49-51)Ctt>Att	p.L17I	MAP3K19_ENST00000375845.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392917.3_Intron					mitogen-activated protein kinase kinase kinase 19																		TTTCCCACAAGCCCAGTCCTA	0.458000													14	77					2.32078e-09	3.00337e-09	0.003163	1	0
MTHFR	4524	broad.mit.edu	37	1	11854864	11854864	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:11854864C>T	ENST00000376592.1	-	6	1216	c.1088G>A	c.(1087-1089)cGt>cAt	p.R363H	MTHFR_ENST00000376583.3_Missense_Mutation_p.R404H|MTHFR_ENST00000376585.1_Missense_Mutation_p.R404H|MTHFR_ENST00000376590.3_Missense_Mutation_p.R363H			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	363					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	p.R363H(1)		NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GAAGATGGGACGTACATCTTC	0.602000													35	69					0	0	0.003271	0	0
ADCY7	113	broad.mit.edu	37	16	50324465	50324465	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr16:50324465G>T	ENST00000394697.2	+	3	609	c.269G>T	c.(268-270)cGg>cTg	p.R90L	ADCY7_ENST00000538642.1_Missense_Mutation_p.R90L|ADCY7_ENST00000537579.1_Missense_Mutation_p.R90L|ADCY7_ENST00000254235.3_Missense_Mutation_p.R90L|ADCY7_ENST00000566433.2_Missense_Mutation_p.R90L|ADCY7_ENST00000564044.1_Intron			P51828	ADCY7_HUMAN	adenylate cyclase 7	90					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TGTCTCCTGCGGCGCTGGCTC	0.657000													41	9					1.32136e-16	2.08688e-16	0.008740	1	0
PRMT3	10196	broad.mit.edu	37	11	20409612	20409612	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:20409612G>T	ENST00000331079.6	+	2	293	c.76G>T	c.(76-78)Gac>Tac	p.D26Y	PRMT3_ENST00000437750.2_Intron	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	26							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						AGAACTGTCGGACAGCGGGGA	0.652000													10	19					7.48243e-07	9.03947e-07	0.006214	1	0
HS3ST2	9956	broad.mit.edu	37	16	22826281	22826281	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr16:22826281C>A	ENST00000261374.3	+	1	784	c.350C>A	c.(349-351)gCc>gAc	p.A117D		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	117						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TTGCCCCAAGCCCTCATTGTG	0.692000													12	18					0.00010058	0.00011093	0.001368	1	0
DOCK2	1794	broad.mit.edu	37	5	169174459	169174459	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:169174459C>T	ENST00000256935.8	+	23	2407	c.2327C>T	c.(2326-2328)tCc>tTc	p.S776F	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.S268F	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	776					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCTTTGAATCCATCAACAAT	0.378000													12	7					0	0	0.001855	0	0
NR0B1	190	broad.mit.edu	37	X	30322722	30322722	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chrX:30322722G>T	ENST00000378970.4	-	2	1621	c.1387C>A	c.(1387-1389)Ctg>Atg	p.L463M		NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	463	Ligand-binding (By similarity).				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)	AGCATTTCCAGCATCATATCA	0.443000													27	11					8.24728e-16	1.28473e-15	0.004656	1	0
OR5AP2	338675	broad.mit.edu	37	11	56409689	56409689	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:56409689T>A	ENST00000544374.1	-	1	258	c.230A>T	c.(229-231)gAt>gTt	p.D77V	OR5AP2_ENST00000302981.1_Missense_Mutation_p.D76V			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						GTAAGAGGCATCTACAAAAGA	0.448000													9	29					0	0	0.004482	0	0
ASTN1	460	broad.mit.edu	37	1	177030276	177030276	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:177030276T>A	ENST00000367654.2	-	2	422	c.409A>T	c.(409-411)Act>Tct	p.T137S	ASTN1_ENST00000424564.2_Missense_Mutation_p.T137S|ASTN1_ENST00000361833.2_Missense_Mutation_p.T137S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.T137S			O14525	ASTN1_HUMAN	astrotactin 1	137					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGTTCTTCAGTGGGGTCTTGT	0.542000													93	72					0	0	0.003610	0	0
ALMS1	7840	broad.mit.edu	37	2	73680643	73680643	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:73680643G>T	ENST00000264448.6	+	8	7097	c.6986G>T	c.(6985-6987)aGg>aTg	p.R2329M	ALMS1_ENST00000377715.1_Missense_Mutation_p.R2329M|ALMS1_ENST00000409009.1_Missense_Mutation_p.R2287M	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2329					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						CCAAGCAGCAGGTGCATACAG	0.438000													17	21					4.7546e-09	6.09017e-09	0.004007	1	0
TRIM50	135892	broad.mit.edu	37	7	72738485	72738485	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:72738485C>A	ENST00000333149.2	-	2	501	c.301G>T	c.(301-303)Gag>Tag	p.E101*	TRIM50_ENST00000493498.1_5'UTR|TRIM50_ENST00000453152.1_Nonsense_Mutation_p.E101*	NM_178125.2	NP_835226.1	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	101						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						TGGTCCTTCTCGCAGAAAAGG	0.657000											OREG0018105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	71					1.26454e-06	1.52036e-06	0.005443	1	0
PLXNA4	91584	broad.mit.edu	37	7	132193098	132193098	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:132193098G>C	ENST00000359827.3	-	2	1317	c.355C>G	c.(355-357)Ctc>Gtc	p.L119V	PLXNA4_ENST00000423507.2_Missense_Mutation_p.L119V|PLXNA4_ENST00000321063.4_Missense_Mutation_p.L119V|PLXNA4_ENST00000378539.5_Missense_Mutation_p.L119V			Q9HCM2	PLXA4_HUMAN	plexin A4	119	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TAGTCTATGAGGAGCATCTTG	0.582000													15	39					0	0	0.004007	0	0
MYOF	26509	broad.mit.edu	37	10	95148894	95148894	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:95148894C>A	ENST00000371501.4	-	18	1596	c.1474G>T	c.(1474-1476)Gag>Tag	p.E492*	MYOF_ENST00000359263.4_Nonsense_Mutation_p.E492*|MYOF_ENST00000358334.5_Nonsense_Mutation_p.E479*|MYOF_ENST00000371502.4_Nonsense_Mutation_p.E492*			Q9NZM1	MYOF_HUMAN	myoferlin	492					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAGCCTACCTCTGTTTCTCCT	0.393000													12	15					2.68362e-12	3.75587e-12	0.001368	1	0
PXDNL	137902	broad.mit.edu	37	8	52366284	52366284	+	Silent	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:52366284A>T	ENST00000356297.4	-	10	1144	c.1044T>A	c.(1042-1044)acT>acA	p.T348T	PXDNL_ENST00000543296.1_Silent_p.T348T	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	348	Ig-like C2-type 2.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TACATTCCAAAGTTGTGCTGG	0.507000													10	106					0	0	0.008291	0	0
LAMA2	3908	broad.mit.edu	37	6	129419478	129419478	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:129419478C>A	ENST00000421865.2	+	4	606	c.557C>A	c.(556-558)aCt>aAt	p.T186N		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	186	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TATCCCCGCACTGGGCCACCG	0.443000													24	10					6.36457e-07	7.72621e-07	0.003954	1	0
PLOD2	5352	broad.mit.edu	37	3	145795655	145795655	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:145795655G>A	ENST00000282903.5	-	14	1734	c.1557C>T	c.(1555-1557)ccC>ccT	p.P519P	PLOD2_ENST00000360060.3_Intron|PLOD2_ENST00000461497.1_Silent_p.P179P|PLOD2_ENST00000494950.1_Silent_p.P464P|RP11-274H2.2_ENST00000480247.1_RNA	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	500					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	aCACCTTTGGGGGGCTGAGCA	0.348000													20	66					0	0	0.010504	0	0
SCN1A	6323	broad.mit.edu	37	2	166909404	166909404	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:166909404A>T	ENST00000423058.2	-	5	669	c.652T>A	c.(652-654)Ttc>Atc	p.F218I	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.F218I|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.F218I|SCN1A_ENST00000303395.4_Missense_Mutation_p.F218I	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	218						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGAACTCTGAATGTTCTCAAT	0.448000													8	27					0	0	0.004482	0	0
PSAP	5660	broad.mit.edu	37	10	73581676	73581676	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:73581676G>T	ENST00000394936.3	-	8	1013	c.866C>A	c.(865-867)tCc>tAc	p.S289Y	PSAP_ENST00000394934.1_Missense_Mutation_p.S291Y			P07602	SAP_HUMAN	prosaposin	289					glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						GACATTCTTGGAGGCCACTTT	0.557000													11	34					2.80697e-09	3.61762e-09	0.010729	1	0
PCDH10	57575	broad.mit.edu	37	4	134072994	134072994	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr4:134072994C>G	ENST00000264360.4	+	1	2525	c.1699C>G	c.(1699-1701)Caa>Gaa	p.Q567E		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	567	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q567E(2)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CATAGTGGATCAAAATGACAA	0.637000													43	8					0	0	0.008740	0	0
EDAR	10913	broad.mit.edu	37	2	109527314	109527314	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:109527314G>T	ENST00000409271.1	-	8	1187	c.744C>A	c.(742-744)ctC>ctA	p.L248L	EDAR_ENST00000376651.1_Silent_p.L248L|EDAR_ENST00000258443.2_Intron			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	217					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						AGGCTGGGGAGAGAGGAGGGA	0.662000													20	18					4.96729e-08	6.18568e-08	0.008871	1	0
CDH23	64072	broad.mit.edu	37	10	73551059	73551059	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:73551059C>T	ENST00000224721.6	+	46	6240	c.6235C>T	c.(6235-6237)Ctc>Ttc	p.L2079F		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2074	Cadherin 20.				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						CCCTGCCACCCTCACTGTCCA	0.637000													13	21					0	0	0.001855	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81065309	81065309	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:81065309G>T	ENST00000334512.5	+	21	2946	c.2374G>T	c.(2374-2376)Ggc>Tgc	p.G792C		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	792					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			TCTGCTGGAGGGCCTGGAGGT	0.607000													18	286					1.67942e-08	2.12511e-08	0.006122	1	0
AGRN	375790	broad.mit.edu	37	1	981235	981235	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:981235G>T	ENST00000379370.2	+	15	2709	c.2659G>T	c.(2659-2661)Ggc>Tgc	p.G887C		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	887	Laminin EGF-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCGTGCCCTGGGCCCCGCGGG	0.692000													47	34					2.77807e-22	4.82507e-22	0.013114	1	0
SPEG	10290	broad.mit.edu	37	2	220309648	220309648	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:220309648G>T	ENST00000312358.7	+	3	712	c.580G>T	c.(580-582)Gtc>Ttc	p.V194F	SPEG_ENST00000396698.1_Missense_Mutation_p.V90F|SPEG_ENST00000396695.2_5'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	194					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGGGCAGACGGTCCTGGAGCA	0.721000													28	57					8.58068e-18	1.392e-17	0.007291	1	0
A2ML1	144568	broad.mit.edu	37	12	8995901	8995901	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:8995901T>A	ENST00000299698.7	+	12	1600	c.1420T>A	c.(1420-1422)Tat>Aat	p.Y474N		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	318						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						GCTGGTGGATTATTACATCGA	0.582000													77	14					0	0	0.003610	0	0
KCNH7	90134	broad.mit.edu	37	2	163374347	163374347	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:163374347C>G	ENST00000332142.5	-	4	884	c.785G>C	c.(784-786)aGa>aCa	p.R262T	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.R262T	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	262					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TTCCCTTGATCTGGAATGGGA	0.493000													17	65					0	0	0.004007	0	0
FANCL	55120	broad.mit.edu	37	2	58449132	58449132	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:58449132G>A	ENST00000402135.3	-	5	355	c.319C>T	c.(319-321)Cct>Tct	p.P107S	FANCL_ENST00000403676.1_Intron|FANCL_ENST00000481670.1_5'UTR|FANCL_ENST00000233741.4_Missense_Mutation_p.P107S|FANCL_ENST00000403295.3_Missense_Mutation_p.P107S|FANCL_ENST00000540646.1_Missense_Mutation_p.P107S	NM_001114636.1	NP_001108108.1	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	107					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						AACTGGGGAGGAGGAGGTAGT	0.363000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				10	19					0	0	0.001368	0	0
DHRS7C	201140	broad.mit.edu	37	17	9676190	9676190	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:9676190G>T	ENST00000330255.4	-	5	636	c.624C>A	c.(622-624)gcC>gcA	p.A208A	DHRS7C_ENST00000571134.1_Silent_p.A207A	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	208						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CCTCCACTTCGGCTCGGAGGC	0.587000													29	5					1.55811e-20	2.62617e-20	0.008361	1	0
ITGB7	3695	broad.mit.edu	37	12	53588066	53588066	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:53588066G>T	ENST00000267082.5	-	10	1455	c.1224C>A	c.(1222-1224)taC>taA	p.Y408*	ITGB7_ENST00000550743.2_Nonsense_Mutation_p.Y408*|ITGB7_ENST00000338737.4_Nonsense_Mutation_p.Y408*|ITGB7_ENST00000422257.3_Nonsense_Mutation_p.Y408*	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	408					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACTGGGATTCGTAAGAAATGT	0.557000													44	56					2.215e-12	3.11677e-12	0.011902	1	0
LARGE	9215	broad.mit.edu	37	22	34046644	34046644	+	Silent	SNP	G	G	A	rs140622529		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr22:34046644G>A	ENST00000354992.2	-	4	688	c.117C>T	c.(115-117)ccC>ccT	p.P39P	LARGE_ENST00000462606.1_5'UTR|LARGE_ENST00000397394.2_Silent_p.P39P|LARGE_ENST00000437602.2_Silent_p.P39P|LARGE_ENST00000337431.2_Silent_p.P39P|LARGE_ENST00000402320.1_Silent_p.P39P	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	39					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				ACAGAGACACGGGCTTTCCAT	0.622000													22	6					0	0	0.002299	0	0
DNAJB5	25822	broad.mit.edu	37	9	34993258	34993258	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr9:34993258G>T	ENST00000541010.1	+	1	3040	c.28G>T	c.(28-30)Ggg>Tgg	p.G10W	DNAJB5_ENST00000545841.1_Missense_Mutation_p.G10W|DNAJB5_ENST00000453597.3_Missense_Mutation_p.G124W|DNAJB5_ENST00000335998.3_Missense_Mutation_p.G44W|DNAJB5_ENST00000454002.2_Missense_Mutation_p.G82W|DNAJB5_ENST00000312316.5_Missense_Mutation_p.G10W			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	10	J.				protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			CAAGATTCTTGGGATCCCATC	0.493000													21	42					3.51602e-12	4.90443e-12	0.008871	1	0
CSMD3	114788	broad.mit.edu	37	8	113569102	113569102	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:113569102C>A	ENST00000297405.5	-	25	4368	c.4124G>T	c.(4123-4125)aGc>aTc	p.S1375I	CSMD3_ENST00000343508.3_Missense_Mutation_p.S1335I|CSMD3_ENST00000455883.2_Missense_Mutation_p.S1271I|CSMD3_ENST00000352409.3_Missense_Mutation_p.S1375I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1375	Sushi 7.					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						AATGATGGTGCTACCAGCAAA	0.468000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			39	75					1.47244e-24	2.61907e-24	0.006230	1	0
FBN1	2200	broad.mit.edu	37	15	48740970	48740970	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr15:48740970C>A	ENST00000316623.5	-	46	6121	c.5666G>T	c.(5665-5667)tGc>tTc	p.C1889F		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1889	EGF-like 31; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CTTACCCAAGCACATGGTTTG	0.328000													8	6					2.17888e-05	2.47492e-05	0.006214	1	0
OR7A10	390892	broad.mit.edu	37	19	14952192	14952192	+	Silent	SNP	C	C	A	rs146303789	byFrequency	TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:14952192C>A	ENST00000248058.1	-	1	497	c.498G>T	c.(496-498)ctG>ctT	p.L166L		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					TACAAAAGGGCAGTGGCAACA	0.428000													24	10					1.64293e-13	2.38178e-13	0.003330	1	0
LOC653786	653786	broad.mit.edu	37	16	22588087	22588087	+	RNA	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr16:22588087G>A	ENST00000550753.1	+	0	2562					NR_003676.2																						GTGGGACACCGTTCCCTGGAT	0.522000													7	31					0	0	0.001984	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173848254	173848254	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:173848254G>T	ENST00000264111.6	+	11	1219	c.1032G>T	c.(1030-1032)gaG>gaT	p.E344D	RAPGEF4_ENST00000397087.3_Missense_Mutation_p.E201D|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.E192D|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.E345D|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.E345D|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.E192D|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.E125D|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.E174D			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	345					blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			ATGACCTAGAGATTATCTATG	0.393000													14	75					0.000151284	0.000166267	0.001855	1	0
SGIP1	84251	broad.mit.edu	37	1	67205120	67205120	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:67205120G>T	ENST00000371037.4	+	22	2211	c.2134G>T	c.(2134-2136)Gat>Tat	p.D712Y	SGIP1_ENST00000371035.3_Missense_Mutation_p.D502Y|SGIP1_ENST00000371036.3_Missense_Mutation_p.D514Y|SGIP1_ENST00000371039.1_Missense_Mutation_p.D515Y|SGIP1_ENST00000237247.6_Missense_Mutation_p.D743Y|SGIP1_ENST00000435165.2_Missense_Mutation_p.D217Y	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	712					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ATATAATACAGATGCAATGAC	0.542000													13	19					0.000151284	0.000166267	0.001855	1	0
TG	7038	broad.mit.edu	37	8	133941393	133941393	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:133941393C>A	ENST00000220616.4	+	23	4812	c.4772C>A	c.(4771-4773)tCc>tAc	p.S1591Y	TG_ENST00000542445.1_Missense_Mutation_p.S25Y|TG_ENST00000377869.1_Missense_Mutation_p.S1534Y	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1591					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)		GCTGTCAGATCCAAAGTTCCT	0.453000													14	84					2.31682e-05	2.62211e-05	0.003163	1	0
COX19	90639	broad.mit.edu	37	7	1015098	1015098	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:1015098G>A	ENST00000344111.3	-	1	137	c.48C>T	c.(46-48)ccC>ccT	p.P16P		NM_001031617.2	NP_001026788.1	Q49B96	COX19_HUMAN	cytochrome c oxidase assembly homolog 19 (S. cerevisiae)	16						cytosol				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15)		CCTTGTCCGGGGGCCGCGGCT	0.701000													5	21					0	0	0.000602	0	0
RELN	5649	broad.mit.edu	37	7	103252090	103252090	+	Missense_Mutation	SNP	T	T	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:103252090T>G	ENST00000428762.1	-	21	3022	c.2863A>C	c.(2863-2865)Aac>Cac	p.N955H	RELN_ENST00000343529.5_Missense_Mutation_p.N955H|RELN_ENST00000424685.2_Missense_Mutation_p.N955H	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	955					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)		AGGCCGTGGTTGGTTGAGTAC	0.458000													15	7					0	0	0.002450	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125547669	125547669	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:125547669C>T	ENST00000431078.1	+	18	3304	c.2940C>T	c.(2938-2940)taC>taT	p.Y980Y		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	980	EGF-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACAATGGCTACCTGTGTGATT	0.547000													13	19					0	0	0.001855	0	0
TFAP2D	83741	broad.mit.edu	37	6	50683293	50683293	+	Silent	SNP	G	G	T	rs111415362		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:50683293G>T	ENST00000008391.3	+	2	732	c.504G>T	c.(502-504)ctG>ctT	p.L168L		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	168							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					GGCCCAGCCTGGGGCTGGCCG	0.622000													53	63					6.56871e-35	1.24806e-34	0.003610	1	0
PRKAA2	5563	broad.mit.edu	37	1	57159456	57159456	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:57159456C>T	ENST00000371244.4	+	5	560	c.494C>T	c.(493-495)tCa>tTa	p.S165L		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	165	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						AATATGATGTCAGATGGTGAA	0.313000													18	30					0	0	0.006122	0	0
DCN	1634	broad.mit.edu	37	12	91572284	91572284	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:91572284C>T	ENST00000551354.1	-	2	250	c.46G>A	c.(46-48)Gct>Act	p.A16T	DCN_ENST00000546370.1_Missense_Mutation_p.A16T|DCN_ENST00000441303.2_Missense_Mutation_p.A16T|DCN_ENST00000052754.5_Missense_Mutation_p.A16T|DCN_ENST00000550099.1_Missense_Mutation_p.A16T|DCN_ENST00000420120.2_Missense_Mutation_p.A16T|DCN_ENST00000546745.1_Missense_Mutation_p.A16T|DCN_ENST00000456569.2_Missense_Mutation_p.A16T|DCN_ENST00000228329.5_Missense_Mutation_p.A16T|DCN_ENST00000425043.1_Missense_Mutation_p.A16T|DCN_ENST00000552962.1_Missense_Mutation_p.A16T|DCN_ENST00000547568.2_Missense_Mutation_p.A16T|DCN_ENST00000303320.3_Missense_Mutation_p.A16T|DCN_ENST00000393155.1_Missense_Mutation_p.A16T			P07585	PGS2_HUMAN	decorin	16					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						AACGGTCCAGCCCAGGAAACT	0.463000											OREG0022021	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	49					0	0	0.003330	0	0
SCN9A	6335	broad.mit.edu	37	2	167134813	167134813	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:167134813C>A	ENST00000375387.4	-	15	2697	c.2357G>T	c.(2356-2358)gGa>gTa	p.G786V	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.G785V|SCN9A_ENST00000409672.1_Missense_Mutation_p.G774V|SCN9A_ENST00000303354.6_Missense_Mutation_p.G786V			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	785						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TGCAAAGATTCCAGTAAAGAC	0.318000													4	13					0.00024832	0.000269371	0.009096	1	0
KIF19	124602	broad.mit.edu	37	17	72350441	72350441	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:72350441G>A	ENST00000389916.4	+	18	2587	c.2449G>A	c.(2449-2451)Gag>Aag	p.E817K		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	817					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						CTCACTGAGCGAGGGCGACGA	0.721000													23	18					0	0	0.002299	0	0
WRN	7486	broad.mit.edu	37	8	30938390	30938390	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:30938390A>T	ENST00000298139.5	+	9	1096	c.847A>T	c.(847-849)Atc>Ttc	p.I283F		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	283					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TAGGGTTTCTATCTTACTAAA	0.299000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				6	0					0	0	0.001168	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212158	26212158	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chrX:26212158G>C	ENST00000379034.1	+	2	344	c.195G>C	c.(193-195)caG>caC	p.Q65H		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	65	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AGGAGTCTCAGGGAGTGTCAC	0.527000													27	9					0	0	0.004656	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12939712	12939712	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:12939712T>C	ENST00000235349.5	-	4	1160	c.1090A>G	c.(1090-1092)Atc>Gtc	p.I364V		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	364										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGTCTATGATGCCACAGTCA	0.507000													138	304					0	0	0.003610	0	0
EIF4G3	8672	broad.mit.edu	37	1	21220009	21220009	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:21220009C>A	ENST00000544689.1	-	6	855	c.715G>T	c.(715-717)Gta>Tta	p.V239L	EIF4G3_ENST00000374933.3_5'UTR|EIF4G3_ENST00000374935.3_Splice_Site|EIF4G3_ENST00000374937.3_Splice_Site|EIF4G3_ENST00000264211.8_Splice_Site|EIF4G3_ENST00000400422.1_Splice_Site|EIF4G3_ENST00000602326.1_Splice_Site|EIF4G3_ENST00000536266.1_Splice_Site|EIF4G3_ENST00000537738.1_Splice_Site			O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	696					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CTTGCACTTACAGGTACGCCT	0.473000													54	24					1.27334e-21	2.19336e-21	0.003610	1	0
VAX1	11023	broad.mit.edu	37	10	118896009	118896009	+	Missense_Mutation	SNP	G	G	A	rs143950742		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:118896009G>A	ENST00000277905.2	-	2	647	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	VAX1_ENST00000369206.5_Missense_Mutation_p.R135W	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	135						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		TTAAGCTGCCGGGCGAGCTCG	0.662000													6	18					0	0	0.001168	0	0
KIRREL	55243	broad.mit.edu	37	1	158063180	158063180	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:158063180T>A	ENST00000368172.1	+	8	977	c.965T>A	c.(964-966)cTg>cAg	p.L322Q	KIRREL_ENST00000360089.4_Missense_Mutation_p.L344Q|KIRREL_ENST00000392272.2_Missense_Mutation_p.L405Q|KIRREL_ENST00000359209.6_Missense_Mutation_p.L508Q|KIRREL_ENST00000368173.3_Missense_Mutation_p.L524Q|KIRREL_ENST00000416935.2_Missense_Mutation_p.L408Q			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	508	Ig-like C2-type 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GCGAGCATCCTGCTCATCTTC	0.582000													35	92					0	0	0.004289	0	0
TRPS1	7227	broad.mit.edu	37	8	116599801	116599801	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:116599801C>A	ENST00000395715.3	-	5	2704	c.2127G>T	c.(2125-2127)caG>caT	p.Q709H	TRPS1_ENST00000519674.1_Missense_Mutation_p.Q696H|TRPS1_ENST00000519076.1_Missense_Mutation_p.Q450H|TRPS1_ENST00000520276.1_Missense_Mutation_p.Q700H|TRPS1_ENST00000220888.5_Missense_Mutation_p.Q696H	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	696	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TAAAACTGCACTGACGGCATT	0.468000									Langer-Giedion syndrome				23	209					1.96895e-08	2.48147e-08	0.002780	1	0
DHRS7C	201140	broad.mit.edu	37	17	9683332	9683332	+	Silent	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:9683332G>C	ENST00000330255.4	-	3	303	c.291C>G	c.(289-291)gtC>gtG	p.V97V	DHRS7C_ENST00000571134.1_Silent_p.V96V	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	97						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						GGTCCAACAGGACCAGCTTTG	0.512000													15	2					0	0	0.003163	0	0
KRT82	3888	broad.mit.edu	37	12	52799941	52799941	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:52799941C>T	ENST00000257974.2	-	1	198	c.121G>A	c.(121-123)Ggg>Agg	p.G41R		NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	41	Head.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CTACCACCCCCGGGCCGGCAT	0.662000													9	20					0	0	0.006214	0	0
KRTAP26-1	388818	broad.mit.edu	37	21	31692034	31692034	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr21:31692034C>A	ENST00000360542.3	-	1	573	c.320G>T	c.(319-321)tGc>tTc	p.C107F		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	107						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						TACTGGAAGGCAGGAACTGGA	0.537000													61	23					1.75667e-42	3.43125e-42	0.003610	1	0
TNR	7143	broad.mit.edu	37	1	175348736	175348736	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:175348736C>A	ENST00000367674.1	-	9	2623	c.1915G>T	c.(1915-1917)Gta>Tta	p.V639L	TNR_ENST00000263525.2_Missense_Mutation_p.V639L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	639	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGGACCAGTACCTCATGATAT	0.547000													16	35					2.32078e-09	3.00337e-09	0.003163	1	0
CACNA1I	8911	broad.mit.edu	37	22	40075819	40075819	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr22:40075819C>A	ENST00000336649.4	+	36	5505	c.5505C>A	c.(5503-5505)ttC>ttA	p.F1835L	CACNA1I_ENST00000404898.1_Missense_Mutation_p.F1794L|CACNA1I_ENST00000400164.3_Missense_Mutation_p.F1794L|CACNA1I_ENST00000401624.1_Missense_Mutation_p.F1829L|CACNA1I_ENST00000407673.1_Missense_Mutation_p.F1794L|CACNA1I_ENST00000402142.3_Missense_Mutation_p.F1829L			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1829					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GCTCCATCTTCCACCACTACT	0.607000													9	3					0.00621372	0.00650417	0.006214	1	0
UBR5	51366	broad.mit.edu	37	8	103287962	103287962	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:103287962C>A	ENST00000520539.1	-	46	7210	c.6604G>T	c.(6604-6606)Gaa>Taa	p.E2202*	UBR5_ENST00000220959.4_Nonsense_Mutation_p.E2202*|UBR5_ENST00000521922.1_Nonsense_Mutation_p.E2196*	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2202					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)			CCAACATCTTCCATGAATACC	0.423000													36	22					1.42033e-22	2.47374e-22	0.004289	1	0
ENO1	2023	broad.mit.edu	37	1	8927283	8927283	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:8927283C>A	ENST00000234590.4	-	6	456	c.337G>T	c.(337-339)Ggg>Tgg	p.G113W		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	113	Required for repression of c-myc promoter activity.				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGGGACACCCCCAGAATGGCG	0.547000													48	41					9.57592e-29	1.75816e-28	0.003610	1	0
OR10G9	219870	broad.mit.edu	37	11	123894513	123894513	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:123894513A>T	ENST00000375024.1	+	1	794	c.794A>T	c.(793-795)gAc>gTc	p.D265V		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		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)		GGCTCCAGGGACGTCGTGGAT	0.522000													67	47					0	0	0.003610	0	0
ATP4A	495	broad.mit.edu	37	19	36053455	36053455	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:36053455A>T	ENST00000262623.3	-	4	330	c.302T>A	c.(301-303)gTc>gAc	p.V101D		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	101					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CGCGAACTTGACGTACTCTGG	0.692000													12	12					0	0	0.010729	0	0
CHRND	1144	broad.mit.edu	37	2	233393312	233393312	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:233393312C>A	ENST00000258385.3	+	5	487	c.455C>A	c.(454-456)cCc>cAc	p.P152H	CHRND_ENST00000536614.1_Missense_Mutation_p.P152H|CHRND_ENST00000457943.2_Missense_Mutation_p.P62T|CHRND_ENST00000543200.1_Missense_Mutation_p.P137H	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	152					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		TCCTCCTGCCCCATCTCTGTC	0.577000													33	126					2.42023e-17	3.87608e-17	0.003271	1	0
ETV1	2115	broad.mit.edu	37	7	13971305	13971305	+	Silent	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:13971305A>G	ENST00000343495.5	-	8	1308	c.570T>C	c.(568-570)cgT>cgC	p.R190R	ETV1_ENST00000403685.1_Silent_p.R190R|ETV1_ENST00000420159.2_Silent_p.R150R|ETV1_ENST00000405218.2_Silent_p.R208R|ETV1_ENST00000430479.1_Silent_p.R208R|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000403527.1_Silent_p.R168R|ETV1_ENST00000405192.2_Silent_p.R208R|ETV1_ENST00000242066.5_Silent_p.R190R|ETV1_ENST00000399357.3_Silent_p.R105R|ETV1_ENST00000405358.4_Silent_p.R222R			P50549	ETV1_HUMAN	ets variant 1	208					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGTACATAGGACGTCCTTCCC	0.507000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								12	39					0	0	0.001368	0	0
ACTG2	72	broad.mit.edu	37	2	74129495	74129495	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:74129495G>T	ENST00000409624.1	+	4	778	c.135G>T	c.(133-135)atG>atT	p.M45I	ACTG2_ENST00000409731.3_Intron|ACTG2_ENST00000409918.1_Missense_Mutation_p.M45I|ACTG2_ENST00000345517.3_Missense_Mutation_p.M45I			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	45					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						AGGGTGTGATGGTGGGAATGG	0.502000													11	30					5.50884e-06	6.39637e-06	0.001368	1	0
CCDC93	54520	broad.mit.edu	37	2	118731509	118731509	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:118731509T>A	ENST00000376300.2	-	11	1000	c.863A>T	c.(862-864)cAg>cTg	p.Q288L	CCDC93_ENST00000460781.1_5'UTR|CCDC93_ENST00000319432.5_Missense_Mutation_p.Q287L	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	288										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						GGACACAATCTGCTTGATCTC	0.557000													3	2					0	0	0.004672	0	0
UGT1A1	54658	broad.mit.edu	37	2	234669003	234669003	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:234669003G>A	ENST00000360418.3	+	1	70	c.70G>A	c.(70-72)Gtg>Atg	p.V24M	UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000305208.5_Missense_Mutation_p.V24M|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A5_ENST00000373414.3_Intron			P22309	UD11_HUMAN		24					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GGGCCCAGTGGTGTCCCATGC	0.627000													10	17					0	0	0.006214	0	0
KEL	3792	broad.mit.edu	37	7	142658584	142658584	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:142658584G>T	ENST00000355265.2	-	3	560	c.86C>A	c.(85-87)aCt>aAt	p.T29N	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	29					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CTCTTCTGGAGTGCTCTGTGG	0.542000													4	7					1.23904e-05	1.42025e-05	0.000602	1	0
TRPM1	4308	broad.mit.edu	37	15	31353686	31353686	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr15:31353686T>A	ENST00000542188.1	-	9	1485	c.1172A>T	c.(1171-1173)cAg>cTg	p.Q391L	TRPM1_ENST00000397795.2_Missense_Mutation_p.Q352L|TRPM1_ENST00000256552.6_Missense_Mutation_p.Q374L	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	352					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GATGTCCTGCTGGCCCTCAGA	0.468000													4	32					0	0	0.009096	0	0
MIR551B	693136	broad.mit.edu	37	3	168269691	168269691	+	RNA	SNP	A	A	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:168269691A>C	ENST00000384984.1	+	0	50					NR_030294.1																						GACCTGGTGCAGAACGGGAAG	0.463000													23	20					0	0	0.006320	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16848101	16848101	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:16848101C>A	ENST00000355661.3	-	10	919	c.909G>T	c.(907-909)caG>caT	p.Q303H	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.Q303H|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.Q303H			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	303					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TGTGGTTGGCCTGGGGGACAG	0.542000													28	44					3.1745e-13	4.53913e-13	0.008361	1	0
OR4C13	283092	broad.mit.edu	37	11	49974145	49974145	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:49974145G>A	ENST00000555099.1	+	1	203	c.171G>A	c.(169-171)atG>atA	p.M57I		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						GATCCCCCATGTACTTTTTCC	0.428000													117	106					0	0	0.003610	0	0
COL6A3	1293	broad.mit.edu	37	2	238283538	238283538	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:238283538G>T	ENST00000295550.4	-	8	3648	c.3196C>A	c.(3196-3198)Cgc>Agc	p.R1066S	COL6A3_ENST00000472056.1_Missense_Mutation_p.R459S|COL6A3_ENST00000353578.4_Missense_Mutation_p.R860S|COL6A3_ENST00000392003.2_Missense_Mutation_p.R659S|COL6A3_ENST00000392004.3_Missense_Mutation_p.R860S|COL6A3_ENST00000346358.4_Missense_Mutation_p.R866S|COL6A3_ENST00000347401.3_Missense_Mutation_p.R865S|COL6A3_ENST00000409809.1_Missense_Mutation_p.R860S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1066	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACGGCCACGCGGACCCGGTCC	0.597000													5	45					3.59834e-05	4.06515e-05	0.001168	1	0
MB21D2	151963	broad.mit.edu	37	3	192516978	192516978	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:192516978C>A	ENST00000392452.2	-	2	993	c.673G>T	c.(673-675)Ggt>Tgt	p.G225C		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	225										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						CTCCCTACACCCAGAATGATG	0.468000													11	31					3.86212e-05	4.32419e-05	0.008291	1	0
GPR148	344561	broad.mit.edu	37	2	131487510	131487510	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:131487510C>A	ENST00000309926.4	+	1	868	c.786C>A	c.(784-786)acC>acA	p.T262T		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	262						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CCAGGGGCACCCTGCTGATCC	0.572000													42	87					8.01111e-26	1.44754e-25	0.010771	1	0
ZHX3	23051	broad.mit.edu	37	20	39833104	39833104	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr20:39833104C>T	ENST00000309060.3	-	4	868	c.453G>A	c.(451-453)gtG>gtA	p.V151V	ZHX3_ENST00000559234.1_Silent_p.V151V|ZHX3_ENST00000560361.1_Silent_p.V151V|ZHX3_ENST00000544979.2_Silent_p.V151V|ZHX3_ENST00000540170.1_Silent_p.V151V|ZHX3_ENST00000557816.1_Silent_p.V151V|ZHX3_ENST00000432768.2_Silent_p.V151V|ZHX3_ENST00000558993.1_Silent_p.V151V			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	151					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TGCTCTGCTCCACAACCACAT	0.552000													33	74					0	0	0.002836	0	0
COL3A1	1281	broad.mit.edu	37	2	189856949	189856949	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:189856949C>A	ENST00000304636.3	+	14	1161	c.991C>A	c.(991-993)Caa>Aaa	p.Q331K	COL3A1_ENST00000317840.5_Missense_Mutation_p.Q331K	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	331	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CAGTGATGGTCAACCAGTAAG	0.348000													15	36					3.41278e-10	4.50487e-10	0.004990	1	0
IL18R1	8809	broad.mit.edu	37	2	103013009	103013009	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:103013009A>T	ENST00000409599.1	+	12	1645	c.1289A>T	c.(1288-1290)cAc>cTc	p.H430L	IL18R1_ENST00000233957.1_Missense_Mutation_p.H430L			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	430	TIR.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GATGAAATCCACTCACTGATA	0.358000													8	20					0	0	0.006214	0	0
KIF17	57576	broad.mit.edu	37	1	21014335	21014335	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:21014335A>T	ENST00000247986.2	-	8	1794	c.1484T>A	c.(1483-1485)gTg>gAg	p.V495E	KIF17_ENST00000490034.1_Intron|KIF17_ENST00000375044.1_Missense_Mutation_p.V395E|KIF17_ENST00000400463.3_Missense_Mutation_p.V495E			Q9P2E2	KIF17_HUMAN	kinesin family member 17	495					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GGGTTTCACCACTGTCTCATA	0.567000													19	78					0	0	0.007413	0	0
DIDO1	11083	broad.mit.edu	37	20	61542656	61542656	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr20:61542656G>A	ENST00000266070.4	-	3	634	c.309C>T	c.(307-309)ccC>ccT	p.P103P	DIDO1_ENST00000370368.1_Silent_p.P103P|DIDO1_ENST00000370366.1_Silent_p.P103P|DIDO1_ENST00000370371.4_Silent_p.P103P|DIDO1_ENST00000395340.1_Silent_p.P103P|DIDO1_ENST00000395335.2_Silent_p.P103P|DIDO1_ENST00000266071.5_Silent_p.P103P|DIDO1_ENST00000354665.4_Silent_p.P103P|DIDO1_ENST00000395343.1_Silent_p.P103P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	103					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGTCTGTGGCGGGGCAGGACG	0.662000													18	21					0	0	0.004990	0	0
KRT7	3855	broad.mit.edu	37	12	52639225	52639225	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:52639225G>T	ENST00000331817.5	+	7	1197	c.1014G>T	c.(1012-1014)gaG>gaT	p.E338D	RP3-416H24.1_ENST00000546686.1_RNA|KRT7_ENST00000552322.1_3'UTR	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	338	Coil 2.|Rod.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		CCATTGCCGAGGCTGAGGAGC	0.662000													27	30					3.99451e-17	6.37292e-17	0.009535	1	0
C10orf2	56652	broad.mit.edu	37	10	102749515	102749515	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:102749515G>C	ENST00000370228.1	+	2	1543	c.1358G>C	c.(1357-1359)cGg>cCg	p.R453P	C10orf2_ENST00000311916.2_Missense_Mutation_p.R453P|C10orf2_ENST00000473656.1_3'UTR	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	453	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGACTAGCCCGGGTCATGCTG	0.532000													25	77					0	0	0.003330	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508673	106508673	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:106508673G>A	ENST00000359195.3	+	2	977	c.667G>A	c.(667-669)Gtc>Atc	p.V223I	PIK3CG_ENST00000496166.1_Missense_Mutation_p.V223I|PIK3CG_ENST00000440650.2_Missense_Mutation_p.V223I	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	223					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						CATCTTCATCGTCATTCACCG	0.592000													55	90					0	0	0.003610	0	0
KAT2A	2648	broad.mit.edu	37	17	40265767	40265767	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:40265767C>T	ENST00000225916.5	-	18	2467	c.2414G>A	c.(2413-2415)cGc>cAc	p.R805H		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	805	Bromo.				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						GTTGTACTCGCGACAGTTGGC	0.607000													12	17					0	0	0.001368	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68934401	68934401	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr4:68934401G>T	ENST00000356291.2	-	7	749	c.690C>A	c.(688-690)ggC>ggA	p.G230G	RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	230	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CACACTGATGGCCTGACCCTA	0.517000													37	9					3.21399e-22	5.57448e-22	0.004878	1	0
UBL3	5412	broad.mit.edu	37	13	30341775	30341775	+	Nonsense_Mutation	SNP	A	A	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr13:30341775A>C	ENST00000380680.4	-	4	1426	c.281T>G	c.(280-282)tTa>tGa	p.L94*		NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN	ubiquitin-like 3	94						intracellular|plasma membrane				large_intestine(3)|lung(1)	4		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		TGGCTCTGGTAATGTCTCTCT	0.398000													15	5					0	0	0.008871	0	0
TPTE	7179	broad.mit.edu	37	21	10906961	10906961	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr21:10906961C>G	ENST00000298232.7	-	23	1913	c.1546G>C	c.(1546-1548)Gag>Cag	p.E516Q	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.E534Q|TPTE_ENST00000342420.5_Missense_Mutation_p.E496Q	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	534	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)		AAAAGTATCTCCACGGCAAAA	0.358000													8	9					0	0	0.003080	0	0
KIAA1715	80856	broad.mit.edu	37	2	176794802	176794802	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:176794802C>T	ENST00000272748.4	-	13	1427	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	KIAA1715_ENST00000544803.1_Missense_Mutation_p.E425K|KIAA1715_ENST00000535310.1_3'UTR	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	394						integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TTCTCAGTCTCTTGTTTCTCC	0.433000													8	59					0	0	0.003080	0	0
PEX5L	51555	broad.mit.edu	37	3	179597742	179597742	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:179597742G>T	ENST00000467460.1	-	5	810	c.480C>A	c.(478-480)gtC>gtA	p.V160V	PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000467440.2_Intron|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000476138.1_Silent_p.V117V|PEX5L_ENST00000485199.1_Silent_p.V125V|PEX5L_ENST00000465751.1_Silent_p.V136V|PEX5L_ENST00000464614.1_Intron|PEX5L_ENST00000392649.3_Intron|PEX5L_ENST00000472994.1_Silent_p.V101V|PEX5L_ENST00000263962.8_Silent_p.V158V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	160					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			AAGTCTCCGGGACTCTGAGAG	0.507000													16	50					8.00594e-06	9.27004e-06	0.007413	1	0
BCLAF1	9774	broad.mit.edu	37	6	136599569	136599569	+	Silent	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:136599569A>G	ENST00000531224.1	-	4	702	c.450T>C	c.(448-450)taT>taC	p.Y150Y	BCLAF1_ENST00000527536.1_Silent_p.Y150Y|BCLAF1_ENST00000527759.1_Silent_p.Y148Y|BCLAF1_ENST00000353331.4_Silent_p.Y148Y|BCLAF1_ENST00000392348.2_Silent_p.Y148Y|BCLAF1_ENST00000530767.1_Silent_p.Y150Y	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	150					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GAGATTTGCTATATGGGGATG	0.433000													59	162					0	0	0.003610	0	0
EPX	8288	broad.mit.edu	37	17	56276975	56276975	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:56276975G>T	ENST00000225371.5	+	9	1467	c.1357G>T	c.(1357-1359)Ggg>Tgg	p.G453W		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	453					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						GCACTACAGGGGGTACTGCTC	0.597000													34	28					2.46105e-21	4.20458e-21	0.010818	1	0
ZNF804A	91752	broad.mit.edu	37	2	185800745	185800745	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:185800745C>A	ENST00000302277.6	+	4	1216	c.622C>A	c.(622-624)Cac>Aac	p.H208N		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	208						intracellular	zinc ion binding			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						CCAGGGGATTCACAGACACAA	0.428000													12	27					1.49906e-05	1.71204e-05	0.002450	1	0
KLHL26	55295	broad.mit.edu	37	19	18779735	18779735	+	Missense_Mutation	SNP	A	A	G	rs146678979		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:18779735A>G	ENST00000300976.4	+	3	1618	c.1528A>G	c.(1528-1530)Atc>Gtc	p.I510V	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	510										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CGGCGGCCGCATCTATGCCCT	0.682000													49	5					0	0	0.003610	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166519	19166519	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:19166519C>A	ENST00000375371.3	-	6	2115	c.2094G>T	c.(2092-2094)ctG>ctT	p.L698L		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	698					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)	GGCCCGTGGCCAGCATGCCAA	0.557000													25	124					1.64293e-13	2.38178e-13	0.003330	1	0
AKR1B1	231	broad.mit.edu	37	7	134133180	134133180	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:134133180C>A	ENST00000285930.4	-	6	697	c.618G>T	c.(616-618)gtG>gtT	p.V206V		NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	206					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	AGGCGGTCACCACGATGCCTT	0.517000													39	43					1.03325e-14	1.56296e-14	0.011902	1	0
COL25A1	84570	broad.mit.edu	37	4	110223091	110223091	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr4:110223091G>C	ENST00000399132.1	-	2	615	c.85C>G	c.(85-87)Cgg>Ggg	p.R29G	COL25A1_ENST00000399127.1_Missense_Mutation_p.R29G|COL25A1_ENST00000399126.1_Missense_Mutation_p.R29G	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	29						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GGCATGGTCCGGGCACAATGC	0.677000													39	14					0	0	0.006999	0	0
ZNF215	7762	broad.mit.edu	37	11	6953866	6953866	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:6953866C>T	ENST00000278319.5	+	3	951	c.363C>T	c.(361-363)acC>acT	p.T121T	ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000414517.2_Silent_p.T121T|ZNF215_ENST00000529903.1_Silent_p.T121T	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	121	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		ATATGGTGACCCTCATAGAAG	0.368000													5	15					0	0	0.001168	0	0
SPEG	10290	broad.mit.edu	37	2	220336998	220336998	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:220336998G>T	ENST00000312358.7	+	15	4017	c.3885G>T	c.(3883-3885)acG>acT	p.T1295T	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1295	Fibronectin type-III 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGGCTGTGACGGGGAGGATGG	0.652000													22	40					7.87624e-14	1.16061e-13	0.002780	1	0
OXSM	54995	broad.mit.edu	37	3	25833306	25833306	+	Silent	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:25833306A>G	ENST00000280701.3	+	2	894	c.795A>G	c.(793-795)cgA>cgG	p.R265R	OXSM_ENST00000449808.1_3'UTR|OXSM_ENST00000420173.2_Intron	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	265					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TGGCATGTCGACCATTTCATC	0.483000													39	16					0	0	0.004289	0	0
ATP2B1	490	broad.mit.edu	37	12	90021464	90021464	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:90021464G>T	ENST00000428670.3	-	7	1414	c.958C>A	c.(958-960)Cgc>Agc	p.R320S	ATP2B1_ENST00000261173.2_Missense_Mutation_p.R320S|ATP2B1_ENST00000348959.3_Missense_Mutation_p.R320S|ATP2B1_ENST00000393164.2_Missense_Mutation_p.R63S|ATP2B1_ENST00000359142.3_Missense_Mutation_p.R320S			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	320					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CCTTTGTTGCGATTCTCAATA	0.313000													32	42					4.3181e-19	7.13425e-19	0.002836	1	0
ELMO1	9844	broad.mit.edu	37	7	37264516	37264516	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:37264516G>T	ENST00000310758.4	-	9	1316	c.669C>A	c.(667-669)atC>atA	p.I223I	ELMO1_ENST00000448602.1_Silent_p.I223I|ELMO1_ENST00000442504.1_Silent_p.I223I	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	223					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GGCCGATGGTGATCTCCTGCG	0.542000													37	75					2.19358e-23	3.8472e-23	0.005524	1	0
GRIK5	2901	broad.mit.edu	37	19	42558061	42558061	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:42558061G>T	ENST00000262895.3	-	9	1076	c.1077C>A	c.(1075-1077)acC>acA	p.T359T	GRIK5_ENST00000301218.4_Silent_p.T359T|GRIK5_ENST00000593562.1_Silent_p.T359T	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	359						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CGACCCGCCCGGTCAGCCCAT	0.632000													28	6					1.08312e-15	1.6727e-15	0.009535	1	0
WRB	7485	broad.mit.edu	37	21	40765117	40765117	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr21:40765117G>C	ENST00000333781.5	+	4	503	c.362G>C	c.(361-363)tGg>tCg	p.W121S	WRB_ENST00000398753.1_Missense_Mutation_p.W87S|WRB_ENST00000380708.1_Missense_Mutation_p.W87S|WRB_ENST00000466787.1_3'UTR|WRB_ENST00000541890.1_Missense_Mutation_p.W121S	NM_004627.4	NP_004618.2	O00258	WRB_HUMAN	tryptophan rich basic protein	121						integral to membrane|nucleolus				endometrium(3)	3		Prostate(19;1.2e-06)				TCACTCATTTGGAAGTATTAT	0.498000													16	41					0	0	0.007413	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802353	185802353	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:185802353G>C	ENST00000302277.6	+	4	2824	c.2230G>C	c.(2230-2232)Gat>Cat	p.D744H		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	744						intracellular	zinc ion binding			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						TCTTCAAAATGATATGAAACA	0.338000													11	36					0	0	0.001368	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255552	15255552	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:15255552C>T	ENST00000378116.4	-	8	2041	c.2035G>A	c.(2035-2037)Gct>Act	p.A679T		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	679						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						TTCATCTGAGCCAAAGCCGCG	0.632000													15	16					0	0	0.004007	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504910	151504910	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr4:151504910G>A	ENST00000317605.4	+	1	1834	c.729G>A	c.(727-729)atG>atA	p.M243I	LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000535741.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	243					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GCCTGCTGATGGGCGGCTGCC	0.637000													25	30					0	0	0.005443	0	0
AK5	26289	broad.mit.edu	37	1	77806060	77806060	+	Splice_Site	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:77806060A>T	ENST00000344720.5	+	6	1647		c.e6-1		AK5_ENST00000354567.2_Splice_Site	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5						ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TGCTCTCCACAGATCTGTACC	0.473000													23	34					0	0	0.012319	0	0
KIAA1598	57698	broad.mit.edu	37	10	118719648	118719648	+	Splice_Site	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:118719648T>A	ENST00000355371.4	-	4	763	c.267_splice	c.e4+1	p.K89_splice	KIAA1598_ENST00000392903.2_Splice_Site_p.K89_splice|KIAA1598_ENST00000260777.10_Splice_Site_p.K89_splice|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392901.4_Splice_Site_p.K29_splice	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	89					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		AAGTCTCACCTTTGTTGCCAA	0.368000													9	18					0	0	0.004482	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800519	185800519	+	Silent	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:185800519A>T	ENST00000302277.6	+	4	990	c.396A>T	c.(394-396)ggA>ggT	p.G132G		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	132						intracellular	zinc ion binding			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						GTGCTCCTGGAAGTGGCCCCA	0.333000													9	34					0	0	0.010729	0	0
OTC	5009	broad.mit.edu	37	X	38262932	38262932	+	Missense_Mutation	SNP	T	T	A	rs72558407		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chrX:38262932T>A	ENST00000039007.4	+	6	754	c.602T>A	c.(601-603)cTg>cAg	p.L201Q	TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	201			L -> P (in OTCD; neonatal).		arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	AACAATATCCTGCACTCCATC	0.483000													46	6					0	0	0.013114	0	0
VCAN	1462	broad.mit.edu	37	5	82818083	82818083	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:82818083C>A	ENST00000265077.3	+	7	4523	c.3958C>A	c.(3958-3960)Cct>Act	p.P1320T	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.P1272T|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.P1320T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1320	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAAATTTCACCCTGACATTAA	0.433000													30	8					1.39806e-14	2.10717e-14	0.008361	1	0
KCNJ3	3760	broad.mit.edu	37	2	155555868	155555868	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:155555868T>A	ENST00000295101.2	+	1	1058	c.581T>A	c.(580-582)cTc>cAc	p.L194H	KCNJ3_ENST00000544049.1_Missense_Mutation_p.L194H	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	194					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GCCGAGACCCTCATGTTCAGC	0.597000													16	65					0	0	0.004007	0	0
AMPH	273	broad.mit.edu	37	7	38500884	38500884	+	Splice_Site	SNP	T	T	A	rs36056840		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:38500884T>A	ENST00000356264.2	-	11	1231	c.1017_splice	c.e11+1	p.Q339_splice	AMPH_ENST00000325590.5_Splice_Site_p.Q339_splice|AMPH_ENST00000428293.2_Splice_Site_p.Q339_splice	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	339					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GGCACTTACCTGGGAAGGTGT	0.498000													58	132					0	0	0.003610	0	0
COL6A3	1293	broad.mit.edu	37	2	238303595	238303595	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:238303595G>T	ENST00000295550.4	-	3	796	c.344C>A	c.(343-345)aCc>aAc	p.T115N	COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000346358.4_Missense_Mutation_p.T115N|COL6A3_ENST00000347401.3_Missense_Mutation_p.T115N|COL6A3_ENST00000409809.1_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	115	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGTCTGATTGGTTCCCCCAAT	0.458000													27	55					1.77063e-15	2.72438e-15	0.005443	1	0
NFATC3	4775	broad.mit.edu	37	16	68160513	68160513	+	Splice_Site	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr16:68160513G>T	ENST00000349223.5	+	3	1625	c.1401_splice	c.e3+1	p.K467_splice	NFATC3_ENST00000575270.1_Splice_Site_p.K467_splice|NFATC3_ENST00000329524.4_Splice_Site_p.K467_splice|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Splice_Site_p.K467_splice	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	467	RHD.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CTGTTGTGAAGGTATGAGACT	0.423000													28	8					1.5548e-18	2.55199e-18	0.005443	1	0
PLXNA3	55558	broad.mit.edu	37	X	153688605	153688605	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chrX:153688605G>T	ENST00000369682.3	+	2	257	c.82G>T	c.(82-84)Gtg>Ttg	p.V28L		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	28	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCCTTCGTGGTGACAGACAC	0.672000													54	14					2.27459e-33	4.30867e-33	0.003610	1	0
ZFHX4	79776	broad.mit.edu	37	8	77618174	77618174	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:77618174G>A	ENST00000521891.2	+	2	2299	c.1851G>A	c.(1849-1851)aaG>aaA	p.K617K	ZFHX4_ENST00000050961.6_Silent_p.K617K|ZFHX4_ENST00000455469.2_Silent_p.K617K|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Silent_p.K617K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	617						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)			AGTGTCCAAAGTGCGACACTG	0.542000										HNSCC(33;0.089)			31	125					0	0	0.003271	0	0
SEMA4B	10509	broad.mit.edu	37	15	90771572	90771572	+	Silent	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr15:90771572C>G	ENST00000411539.2	+	14	2471	c.2211C>G	c.(2209-2211)ctC>ctG	p.L737L	SEMA4B_ENST00000379122.3_Intron|SEMA4B_ENST00000332496.6_Silent_p.L737L	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TATTCTTGCTCTACCGGCACC	0.607000													8	12					0	0	0.006214	0	0
POP1	10940	broad.mit.edu	37	8	99170455	99170455	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:99170455G>T	ENST00000401707.2	+	16	3112	c.3031G>T	c.(3031-3033)Gcc>Tcc	p.A1011S	POP1_ENST00000349693.3_Missense_Mutation_p.A1011S	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	1011					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GAGGCCTCCCGCCTCTCTGCA	0.527000													45	142					2.77807e-22	4.82507e-22	0.013114	1	0
AUTS2	26053	broad.mit.edu	37	7	70231275	70231275	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:70231275C>T	ENST00000342771.4	+	9	1965	c.1644C>T	c.(1642-1644)caC>caT	p.H548H	AUTS2_ENST00000406775.2_Silent_p.H548H	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	548	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CGTTCCCCCACGCCATCCCAC	0.617000													6	19					0	0	0.001984	0	0
CLCN1	1180	broad.mit.edu	37	7	143016943	143016943	+	Silent	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:143016943T>C	ENST00000343257.2	+	2	363	c.276T>C	c.(274-276)gaT>gaC	p.D92D		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	92					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ACAGCAAGGATGAGGATCACT	0.463000													36	49					0	0	0.008740	0	0
CFHR4	10877	broad.mit.edu	37	1	196884257	196884257	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:196884257C>A	ENST00000367416.2	+	9	1663	c.1526C>A	c.(1525-1527)cCa>cAa	p.P509Q	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.P263Q|CFHR4_ENST00000367418.1_Missense_Mutation_p.P263Q	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TCGGAACCACCAAGATGCATA	0.353000													32	62					1.57019e-19	2.61144e-19	0.007835	1	0
MYO15A	51168	broad.mit.edu	37	17	18023703	18023703	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:18023703C>G	ENST00000205890.5	+	2	1927	c.1589C>G	c.(1588-1590)cCt>cGt	p.P530R		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	530	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TACGGCCACCCTTTCTGGGGC	0.701000													15	7					0	0	0.003163	0	0
OSBP	5007	broad.mit.edu	37	11	59368776	59368776	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:59368776C>G	ENST00000263847.1	-	5	1583	c.1104G>C	c.(1102-1104)atG>atC	p.M368I		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	368					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AATTTTCAGGCATGGTGATGA	0.393000													9	23					0	0	0.004482	0	0
ANK2	287	broad.mit.edu	37	4	114279970	114279970	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr4:114279970C>A	ENST00000357077.4	+	38	10249	c.10196C>A	c.(10195-10197)tCa>tAa	p.S3399*	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Nonsense_Mutation_p.S3366*|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3366					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCTTTGGATTCAAAGACCAAA	0.478000													35	12					2.68265e-12	3.75587e-12	0.002836	1	0
ALDH1A1	216	broad.mit.edu	37	9	75545838	75545838	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr9:75545838T>C	ENST00000297785.3	-	3	323	c.269A>G	c.(268-270)tAc>tGc	p.Y90C	ALDH1A1_ENST00000482210.1_5'UTR|ALDH1A1_ENST00000376939.1_Missense_Mutation_p.Y90C	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	90					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	AGCCAACTTGTATAATAGTCG	0.502000													62	12					0	0	0.003610	0	0
PLOD2	5352	broad.mit.edu	37	3	145841966	145841966	+	Translation_Start_Site	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:145841966G>C	ENST00000494950.1	-	0	254				PLOD2_ENST00000360060.3_Missense_Mutation_p.R54G|PLOD2_ENST00000282903.5_Missense_Mutation_p.R54G			O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2						protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	p.R54*(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TGCATAAATCGATGGAATCCA	0.318000													5	16					0	0	0.001168	0	0
SLC8A1	6546	broad.mit.edu	37	2	40366666	40366666	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:40366666G>T	ENST00000406785.1	-	7	2501	c.2312C>A	c.(2311-2313)tCc>tAc	p.S771Y	SLC8A1_ENST00000542024.1_Missense_Mutation_p.S771Y|SLC8A1_ENST00000405901.3_Missense_Mutation_p.S802Y|SLC8A1_ENST00000405269.1_Missense_Mutation_p.S771Y|SLC8A1_ENST00000403092.1_Missense_Mutation_p.S807Y|SLC8A1_ENST00000402441.1_Missense_Mutation_p.S771Y|SLC8A1_ENST00000332839.4_Missense_Mutation_p.S807Y|SLC8A1_ENST00000408028.2_Missense_Mutation_p.S799Y|SLC8A1_ENST00000406391.2_Missense_Mutation_p.S771Y|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.S802Y|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	807					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CATGAGGATGGAGACAATGAA	0.502000													31	24					8.58068e-18	1.392e-17	0.007291	1	0
OSBPL5	114879	broad.mit.edu	37	11	3114885	3114885	+	Silent	SNP	G	G	A	rs144394986	byFrequency	TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:3114885G>A	ENST00000263650.7	-	17	1977	c.1818C>T	c.(1816-1818)gaC>gaT	p.D606D	OSBPL5_ENST00000348039.5_Silent_p.D538D|OSBPL5_ENST00000525498.1_Silent_p.D517D|OSBPL5_ENST00000542243.1_Silent_p.D237D|OSBPL5_ENST00000389989.3_Silent_p.D538D|OSBPL5_ENST00000478260.1_Silent_p.D60D	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	606					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TGATAAACACGTCCCTGTCCT	0.687000													21	31					0	0	0.002780	0	0
ZNF185	7739	broad.mit.edu	37	X	152083700	152083700	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chrX:152083700G>T	ENST00000535861.1	+	3	225	c.177G>T	c.(175-177)cgG>cgT	p.R59R	ZNF185_ENST00000370268.4_Silent_p.R59R|ZNF185_ENST00000318504.7_Silent_p.R59R|ZNF185_ENST00000539731.1_Silent_p.R59R|ZNF185_ENST00000449285.2_Silent_p.R59R|ZNF185_ENST00000324823.6_5'UTR	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	59						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCAGGCCGGAGTCGCGCCA	0.622000													7	11					2.7689e-08	3.48264e-08	0.001984	1	0
PRAMEF7	441871	broad.mit.edu	37	1	12979699	12979699	+	Silent	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:12979699C>G	ENST00000361079.2	+	4	974	c.891C>G	c.(889-891)gtC>gtG	p.V297V						PRAME family member 7									p.V297V(1)		endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAGATGGTCGTTATGACCG	0.547000													45	138					0	0	0.003610	0	0
FAM135B	51059	broad.mit.edu	37	8	139323093	139323093	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:139323093C>A	ENST00000395297.1	-	3	318	c.148G>T	c.(148-150)Ggg>Tgg	p.G50W		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	50										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)			CCTGTCTGCCCAGCGATGGAG	0.557000										HNSCC(54;0.14)			8	107					0.000157383	0.000171915	0.003080	1	0
ITIH6	347365	broad.mit.edu	37	X	54783842	54783842	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chrX:54783842T>C	ENST00000218436.6	-	8	2694	c.2665A>G	c.(2665-2667)Aga>Gga	p.R889G		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	889	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										CTGTCAGGTCTAGGAGGTAGT	0.517000													44	10					0	0	0.011902	0	0
TBC1D31	93594	broad.mit.edu	37	8	124105846	124105846	+	Silent	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:124105846T>C	ENST00000287380.1	+	5	625	c.535T>C	c.(535-537)Tta>Cta	p.L179L	TBC1D31_ENST00000522420.1_Silent_p.L74L|TBC1D31_ENST00000327098.5_Silent_p.L179L|TBC1D31_ENST00000309336.3_Silent_p.L179L|TBC1D31_ENST00000521676.1_Silent_p.L74L|TBC1D31_ENST00000378080.2_Silent_p.L74L	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		CTTTCTACCATTAAGTAATAC	0.323000													11	80					0	0	0.001368	0	0
MEGF8	1954	broad.mit.edu	37	19	42860570	42860570	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:42860570G>T	ENST00000334370.4	+	25	5021	c.4386G>T	c.(4384-4386)ctG>ctT	p.L1462L	MEGF8_ENST00000251268.6_Silent_p.L1529L	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1529						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TTGGGGGCCTGGGCCTGCCCC	0.632000													16	2					1.00905e-13	1.47476e-13	0.008871	1	0
WIPF1	7456	broad.mit.edu	37	2	175436453	175436453	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:175436453C>A	ENST00000392547.2	-	5	1179	c.1080G>T	c.(1078-1080)ccG>ccT	p.P360P	AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409891.1_Silent_p.P360P|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000272746.5_Silent_p.P360P|WIPF1_ENST00000409415.3_Silent_p.P360P|WIPF1_ENST00000392546.2_Silent_p.P360P|WIPF1_ENST00000359761.3_Silent_p.P360P	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	360	Pro-rich.			P -> PV (in Ref. 2; CAA60014).	actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						TCTCACTGGGCGGGGGAGGAA	0.607000													34	106					9.45814e-24	1.67521e-23	0.004878	1	0
MBOAT2	129642	broad.mit.edu	37	2	9008594	9008594	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:9008594C>G	ENST00000305997.3	-	9	1167	c.969G>C	c.(967-969)ttG>ttC	p.L323F	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	323					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTTGAATTCTCAAATTGGAAA	0.363000													13	52					0	0	0.001855	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519556	113519556	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:113519556T>C	ENST00000284601.3	-	4	1659	c.1591A>G	c.(1591-1593)Aga>Gga	p.R531G		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	531					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						AAATTTTTTCTTTGTTTTTCA	0.353000													11	63					0	0	0.008291	0	0
CA8	767	broad.mit.edu	37	8	61121394	61121394	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:61121394G>A	ENST00000317995.4	-	8	1087	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	275					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				TGAGTGGGCCGAAAGTTGTCT	0.453000													16	70					0	0	0.004007	0	0
KCNT2	343450	broad.mit.edu	37	1	196227502	196227502	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:196227502C>A	ENST00000367433.5	-	25	3062	c.2961G>T	c.(2959-2961)cgG>cgT	p.R987R	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000294725.8_Silent_p.R1011R|KCNT2_ENST00000367431.4_Silent_p.R945R			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1011						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TGCTTTTTCTCCGCAGCAAGG	0.512000													16	31					1.15088e-07	1.42187e-07	0.004007	1	0
HSD17B6	8630	broad.mit.edu	37	12	57167812	57167812	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:57167812C>T	ENST00000554643.1	+	3	525	c.176C>T	c.(175-177)gCg>gTg	p.A59V	HSD17B6_ENST00000322165.1_Missense_Mutation_p.A59V|HSD17B6_ENST00000555805.1_Missense_Mutation_p.A59V|HSD17B6_ENST00000554150.1_Missense_Mutation_p.A59V|HSD17B6_ENST00000555159.1_Missense_Mutation_p.A59V			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	59					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	GTGCTGGCTGCGTGTCTGACG	0.597000													29	48					0	0	0.005443	0	0
OR2W3	343171	broad.mit.edu	37	1	248059389	248059389	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:248059389C>A	ENST00000537741.1	+	3	758	c.501C>A	c.(499-501)ccC>ccA	p.P167P	OR2W3_ENST00000360358.3_Silent_p.P167P			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGCGCTTACCCCGCTGTGGGC	0.642000													15	43					3.27435e-08	4.09376e-08	0.002450	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125530445	125530445	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:125530445C>T	ENST00000431078.1	+	17	2964	c.2600C>T	c.(2599-2601)tCt>tTt	p.S867F		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	867	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CAGTCTCCTTCTCTTCTGAAT	0.527000													29	36					0	0	0.007291	0	0
MUC16	94025	broad.mit.edu	37	19	9082643	9082643	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:9082643C>A	ENST00000397910.4	-	1	9375	c.9172G>T	c.(9172-9174)Ggg>Tgg	p.G3058W		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3059	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGGAAGGCCCAAGAAATAGT	0.488000													39	36					9.45814e-24	1.67521e-23	0.004878	1	0
XPC	7508	broad.mit.edu	37	3	14200156	14200156	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:14200156C>A	ENST00000285021.7	-	9	1441	c.1227G>T	c.(1225-1227)caG>caT	p.Q409H	XPC_ENST00000449060.2_Missense_Mutation_p.Q372H	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	409	Arg/Lys-rich (basic).				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGCCTTCTCCTGCTTGTCTC	0.622000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				102	23					4.98428e-49	9.81207e-49	0.003610	1	0
SPTA1	6708	broad.mit.edu	37	1	158607982	158607982	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:158607982C>A	ENST00000368148.3	-	36	5210	c.5030G>T	c.(5029-5031)gGg>gTg	p.G1677V	SPTA1_ENST00000368147.3_Missense_Mutation_p.G1677V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1677					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTTGAAAGTCCCGCTGGAGAG	0.413000													23	19					6.44725e-10	8.47469e-10	0.002299	1	0
TOP2B	7155	broad.mit.edu	37	3	25660275	25660275	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:25660275G>C	ENST00000435706.2	-	24	3315	c.3114C>G	c.(3112-3114)ttC>ttG	p.F1038L	TOP2B_ENST00000264331.4_Missense_Mutation_p.F1043L|TOP2B_ENST00000542520.1_5'UTR			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1043					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						GTAAATCAAAGAATTCTTTCA	0.353000													5	8					0	0	0.001984	0	0
GLT1D1	144423	broad.mit.edu	37	12	129360556	129360556	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:129360556T>A	ENST00000442111.2	+	2	254	c.166T>A	c.(166-168)Tgc>Agc	p.C56S	GLT1D1_ENST00000542193.1_5'UTR|GLT1D1_ENST00000537468.1_Missense_Mutation_p.C45S|GLT1D1_ENST00000281703.6_Missense_Mutation_p.C56S			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	56					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GGCTGAGAACTGCGAGGCTGC	0.478000													31	164					0	0	0.002836	0	0
TRPM2	7226	broad.mit.edu	37	21	45845686	45845686	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr21:45845686G>T	ENST00000397928.1	+	25	4216	c.3771G>T	c.(3769-3771)gtG>gtT	p.V1257V	TRPM2_ENST00000300481.9_Silent_p.V1237V|TRPM2_ENST00000397932.2_Silent_p.V1307V|TRPM2_ENST00000300482.5_Silent_p.V1257V|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1257						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCTTCCCCGTGCCCAACGAGA	0.706000													9	2					1.12685e-05	1.29759e-05	0.004482	1	0
MYH2	4620	broad.mit.edu	37	17	10432175	10432175	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:10432175T>A	ENST00000245503.5	-	27	3960	c.3576A>T	c.(3574-3576)gaA>gaT	p.E1192D	MYH2_ENST00000397183.2_Missense_Mutation_p.E1192D|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1192					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						CCGCTGTGGCTTCATGCTGTA	0.587000													95	60					0	0	0.003610	0	0
USP32	84669	broad.mit.edu	37	17	58366009	58366009	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:58366009C>A	ENST00000300896.4	-	5	640	c.446G>T	c.(445-447)tGg>tTg	p.W149L	USP32_ENST00000393003.3_Missense_Mutation_p.W149L	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	149					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TAGAAAAAGCCAATTTCTAAA	0.333000													9	27					0.00448238	0.00470763	0.004482	1	0
HECTD4	283450	broad.mit.edu	37	12	112686297	112686297	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:112686297C>G	ENST00000550722.1	-	26	3927	c.3532G>C	c.(3532-3534)Gtg>Ctg	p.V1178L	HECTD4_ENST00000377560.5_Missense_Mutation_p.V1152L|HECTD4_ENST00000430131.2_Missense_Mutation_p.V902L	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		TCCTCCATCACGTCTGGCTGA	0.353000													6	13					0	0	0.001168	0	0
CACNB4	785	broad.mit.edu	37	2	152698451	152698451	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:152698451A>T	ENST00000360283.6	-	12	1426	c.1169T>A	c.(1168-1170)cTc>cAc	p.L390H	CACNB4_ENST00000539935.1_Missense_Mutation_p.L423H|CACNB4_ENST00000427385.1_Missense_Mutation_p.L405H|CACNB4_ENST00000534999.1_Missense_Mutation_p.L389H|CACNB4_ENST00000397327.2_Missense_Mutation_p.L376H|CACNB4_ENST00000201943.5_Intron			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	423					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	ATATGGTGAGAGTGCCGTGGA	0.488000													25	103					0	0	0.008361	0	0
PPFIA2	8499	broad.mit.edu	37	12	82147851	82147851	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:82147851C>A	ENST00000550584.2	-	2	445	c.150G>T	c.(148-150)cgG>cgT	p.R50R	PPFIA2_ENST00000333447.7_Silent_p.R50R|PPFIA2_ENST00000549325.1_Silent_p.R50R|PPFIA2_ENST00000548586.1_Silent_p.R50R|PPFIA2_ENST00000549396.1_Silent_p.R50R|PPFIA2_ENST00000552948.1_Silent_p.R50R	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	309										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CCTGGGTCTCCCGAAGGGTGT	0.527000													18	30					8.00594e-06	9.27004e-06	0.007413	1	0
GLDC	2731	broad.mit.edu	37	9	6604785	6604785	+	Splice_Site	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr9:6604785C>T	ENST00000321612.6	-	7	1012		c.e7-1			NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)						glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AGGCCAGGCTCTAGAAAGGAA	0.498000													17	20					0	0	0.006122	0	0
CDH19	28513	broad.mit.edu	37	18	64218475	64218475	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr18:64218475T>A	ENST00000262150.2	-	5	923	c.631A>T	c.(631-633)Aaa>Taa	p.K211*	CDH19_ENST00000540086.1_Nonsense_Mutation_p.K211*	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	211	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CTATCCATTTTAGAAGATATT	0.313000													23	20					0	0	0.005443	0	0
AVPR1A	552	broad.mit.edu	37	12	63543939	63543939	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:63543939C>A	ENST00000299178.2	-	1	783	c.678G>T	c.(676-678)gtG>gtT	p.V226V		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	226					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCACGGGCGCCACAAAGATGC	0.622000													52	74					6.18754e-15	9.39368e-15	0.003610	1	0
AMER3	205147	broad.mit.edu	37	2	131521440	131521440	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:131521440G>T	ENST00000423981.1	+	2	1905	c.1795G>T	c.(1795-1797)Gcc>Tcc	p.A599S	AMER3_ENST00000321420.4_Missense_Mutation_p.A599S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GTCCAGGGATGCCTCTCGAGA	0.597000													14	50					3.27435e-08	4.09376e-08	0.002450	1	0
SMARCD1	6602	broad.mit.edu	37	12	50481193	50481193	+	Silent	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:50481193T>C	ENST00000394963.4	+	5	977	c.579T>C	c.(577-579)gcT>gcC	p.A193A	SMARCD1_ENST00000381513.4_Silent_p.A193A	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1	193	Interaction with SMARCC1 and SMARCC2.|Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						TCAATCCGGCTAAGTCAGATG	0.517000													110	133					0	0	0.003610	0	0
SNHG14	104472715	broad.mit.edu	37	15	25339267	25339267	+	RNA	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr15:25339267C>T	ENST00000546682.1	+	0	1110				SNHG14_ENST00000553108.1_RNA|SNORD116-24_ENST00000384549.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						CTTCGTTGAACTGAGGTCCAG	0.443000													19	66					0	0	0.006122	0	0
FSHR	2492	broad.mit.edu	37	2	49217719	49217719	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:49217719G>T	ENST00000406846.2	-	5	551	c.432C>A	c.(430-432)ctC>ctA	p.L144L	FSHR_ENST00000346173.3_Silent_p.L144L|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000304421.4_Silent_p.L144L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	144					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	AAACTTTTTGGAGAGAATGAA	0.383000									Gonadal Dysgenesis, 46 XX				27	26					2.24059e-21	3.83316e-21	0.006320	1	0
ZFHX4	79776	broad.mit.edu	37	8	77761810	77761810	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:77761810C>T	ENST00000521891.2	+	8	4156	c.3708C>T	c.(3706-3708)gtC>gtT	p.V1236V	ZFHX4_ENST00000050961.6_Silent_p.V1191V|ZFHX4_ENST00000455469.2_Silent_p.V1191V|ZFHX4_ENST00000518282.1_Silent_p.V1210V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1191						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)			AGATGCACGTCCTATCACAGC	0.443000										HNSCC(33;0.089)			20	168					0	0	0.010504	0	0
INPP5B	3633	broad.mit.edu	37	1	38397621	38397621	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:38397621G>T	ENST00000373023.2	-	7	589	c.496C>A	c.(496-498)Cta>Ata	p.L166I	INPP5B_ENST00000373021.1_Missense_Mutation_p.L166I|INPP5B_ENST00000373024.3_Missense_Mutation_p.L166I|INPP5B_ENST00000373026.1_Missense_Mutation_p.L166I	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	166					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)				CAGGTAACTAGGGCCGAGTTA	0.642000													14	31					9.31168e-06	1.07423e-05	0.001855	1	0
CCDC129	223075	broad.mit.edu	37	7	31691583	31691583	+	Silent	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:31691583T>A	ENST00000319386.3	+	13	3291	c.2298T>A	c.(2296-2298)cgT>cgA	p.R766R	CCDC129_ENST00000407970.3_Silent_p.R914R|CCDC129_ENST00000451887.2_Silent_p.R940R|CCDC129_ENST00000409210.1_Silent_p.R822R			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	914										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AAACGTTACGTGAGGCCCTGA	0.483000													7	9					0	0	0.003080	0	0
OR6K6	128371	broad.mit.edu	37	1	158725560	158725560	+	Silent	SNP	C	C	T	rs149993086		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:158725560C>T	ENST00000368144.2	+	1	1051	c.955C>T	c.(955-957)Ctg>Ttg	p.L319L		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	319					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CATCTATAGCCTGAAAAACAA	0.438000													24	64					0	0	0.003330	0	0
STAB2	55576	broad.mit.edu	37	12	104142758	104142758	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:104142758C>A	ENST00000388887.2	+	59	6466	c.6262C>A	c.(6262-6264)Cag>Aag	p.Q2088K	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2088	EGF-like 16.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TTTCTGCAAACAGGACAACGG	0.577000													27	55					4.87955e-14	7.20726e-14	0.005443	1	0
SCN2A	6326	broad.mit.edu	37	2	166210893	166210893	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:166210893T>A	ENST00000375437.2	+	17	3401	c.3111T>A	c.(3109-3111)gaT>gaA	p.D1037E	SCN2A_ENST00000375427.2_Missense_Mutation_p.D1037E|SCN2A_ENST00000357398.3_Missense_Mutation_p.D1037E|SCN2A_ENST00000283256.6_Missense_Mutation_p.D1037E	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1037					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)	AAGCTTTAGATGAAATTAAAC	0.343000													17	55					0	0	0.004990	0	0
DMD	1756	broad.mit.edu	37	X	31838176	31838176	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chrX:31838176C>A	ENST00000357033.4	-	50	7431	c.7225G>T	c.(7225-7227)Gag>Tag	p.E2409*	DMD_ENST00000359836.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000378677.2_Nonsense_Mutation_p.E2405*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2409					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCCTTCCACTCAGAGCTCAGA	0.413000													56	13					1.47633e-17	2.38264e-17	0.003610	1	0
MYH2	4620	broad.mit.edu	37	17	10446192	10446192	+	Splice_Site	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:10446192C>G	ENST00000245503.5	-	10	1288	c.904_splice	c.e10+1	p.E302_splice	MYH2_ENST00000397183.2_Splice_Site_p.E302_splice|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Splice_Site_p.E302_splice	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	302	Myosin head-like.				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						CATTTCTTACCAATAAGTTCT	0.338000													8	2					0	0	0.003080	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107423241	107423241	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:107423241G>T	ENST00000409382.3	-	6	2093	c.1483C>A	c.(1483-1485)Ctg>Atg	p.L495M	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.L495M	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	495					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CCCATGTTCAGGCGCTGCACC	0.617000													37	39					1.04594e-18	1.71901e-18	0.006230	1	0
FAM135B	51059	broad.mit.edu	37	8	139155347	139155347	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:139155347G>A	ENST00000395297.1	-	16	3716	c.3546C>T	c.(3544-3546)gaC>gaT	p.D1182D		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1182										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)			CTGCAAATGTGTCCATCTGGA	0.468000										HNSCC(54;0.14)			7	54					0	0	0.001984	0	0
TG	7038	broad.mit.edu	37	8	133961041	133961041	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:133961041C>T	ENST00000220616.4	+	27	5294	c.5254C>T	c.(5254-5256)Ctg>Ttg	p.L1752L	TG_ENST00000542445.1_Silent_p.L122L|TG_ENST00000377869.1_Silent_p.L1695L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1752					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)		CTGTGGGTTGCTGAGCTCACC	0.512000													36	257					0	0	0.005524	0	0
UGT2B4	7363	broad.mit.edu	37	4	70359506	70359506	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr4:70359506G>T	ENST00000305107.6	-	2	821	c.775C>A	c.(775-777)Cga>Aga	p.R259R	UGT2B4_ENST00000512583.1_Silent_p.R259R|UGT2B4_ENST00000381096.3_Silent_p.R123R|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	259					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CAGTAGTTTCGAATAAGCCAT	0.413000													29	17					4.22769e-11	5.71902e-11	0.006320	1	0
GFM1	85476	broad.mit.edu	37	3	158366915	158366915	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:158366915G>T	ENST00000486715.1	+	5	1015	c.658G>T	c.(658-660)Gaa>Taa	p.E220*	GFM1_ENST00000264263.5_Nonsense_Mutation_p.E220*|GFM1_ENST00000478576.1_Nonsense_Mutation_p.E220*	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	220					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TCTTATTGAGGAACGAGCCAT	0.294000													17	48					6.94344e-10	9.06043e-10	0.006122	1	0
CGA	1081	broad.mit.edu	37	6	87796136	87796136	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:87796136C>A	ENST00000369582.2	-	3	205	c.105G>T	c.(103-105)acG>acT	p.T35T		NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	35					hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		TTTCCTGTAGCGTGCATTCTG	0.473000													15	33					2.23348e-06	2.64725e-06	0.004007	1	0
TNFRSF4	7293	broad.mit.edu	37	1	1149499	1149499	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:1149499C>A	ENST00000379236.3	-	1	13	c.9G>T	c.(7-9)gtG>gtT	p.V3V		NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	3					immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCCGAGCCCCCACGCACATCC	0.692000													9	5					4.68919e-08	5.85099e-08	0.008291	1	0
CUL4B	8450	broad.mit.edu	37	X	119666391	119666391	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chrX:119666391C>T	ENST00000371322.5	-	18	2386	c.2325G>A	c.(2323-2325)ctG>ctA	p.L775L	CUL4B_ENST00000336592.6_Silent_p.L780L|CUL4B_ENST00000404115.3_Silent_p.L793L	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	793					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GATTTTTCGCCAGAACTCTAG	0.378000													27	13					0	0	0.003271	0	0
COL4A1	1282	broad.mit.edu	37	13	110830546	110830546	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr13:110830546G>A	ENST00000375820.4	-	32	2612	c.2491C>T	c.(2491-2493)Ccc>Tcc	p.P831S		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	831	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGGAATCCGGGGAAACCCTTC	0.522000													23	37					0	0	0.002780	0	0
CADM3	57863	broad.mit.edu	37	1	159166837	159166837	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:159166837C>A	ENST00000368125.4	+	7	1096	c.939C>A	c.(937-939)acC>acA	p.T313T	CADM3_ENST00000497636.1_3'UTR|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Silent_p.T347T	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	313	Ig-like C2-type 2.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CCTACTACACCCTCAATGTTA	0.488000													22	21					1.66031e-10	2.20087e-10	0.003954	1	0
DNER	92737	broad.mit.edu	37	2	230377550	230377550	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:230377550C>A	ENST00000341772.4	-	6	1230	c.1096G>T	c.(1096-1098)Gat>Tat	p.D366Y		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	366	EGF-like 4.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TCATTTGCATCAATACAGCTC	0.443000													17	80					6.94344e-10	9.06043e-10	0.006122	1	0
CCDC136	64753	broad.mit.edu	37	7	128446887	128446887	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:128446887C>A	ENST00000297788.4	+	9	1761	c.1394C>A	c.(1393-1395)gCc>gAc	p.A465D	CCDC136_ENST00000487361.1_Missense_Mutation_p.A412D|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	465						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GATACGGTGGCCTCCTTCAAA	0.557000													18	14					6.94344e-10	9.06043e-10	0.006122	1	0
RD3	343035	broad.mit.edu	37	1	211652627	211652627	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:211652627C>A	ENST00000367002.4	-	3	1502	c.339G>T	c.(337-339)gaG>gaT	p.E113D	RD3_ENST00000484910.1_5'UTR	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	113					response to stimulus|visual perception					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		GCTGGGACACCTCCTGCACCT	0.697000													4	7					2.56e-06	3.02853e-06	0.009096	1	0
SPAG6	9576	broad.mit.edu	37	10	22699966	22699966	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:22699966C>A	ENST00000376603.2	+	10	1691	c.1549C>A	c.(1549-1551)Ccg>Acg	p.P517T	SPAG6_ENST00000538630.1_Missense_Mutation_p.P416T|SPAG6_ENST00000376601.1_Missense_Mutation_p.P202T|SPAG6_ENST00000313311.6_Intron|SPAG6_ENST00000376624.3_Missense_Mutation_p.P441T|SPAG6_ENST00000490361.1_3'UTR|RP11-301N24.3_ENST00000422675.1_RNA			O75602	SPAG6_HUMAN	sperm associated antigen 6	441					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						CAAGGTGCTGCCGCATGATAG	0.363000													5	20					2.0095e-06	2.39081e-06	0.001984	1	0
MYO15A	51168	broad.mit.edu	37	17	18024001	18024001	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:18024001G>A	ENST00000205890.5	+	2	2225	c.1887G>A	c.(1885-1887)agG>agA	p.R629R		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	629	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCGTGCTGAGGAGGGCCCAGC	0.741000													10	1					0	0	0.001368	0	0
HIPK2	28996	broad.mit.edu	37	7	139268706	139268706	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:139268706C>A	ENST00000406875.3	-	13	2916	c.2822G>T	c.(2821-2823)cGt>cTt	p.R941L	HIPK2_ENST00000342645.6_Missense_Mutation_p.R841L|HIPK2_ENST00000428878.2_Missense_Mutation_p.R914L	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	941	Interaction with AXIN1 (By similarity).|Interaction with TP53 and TP73.|Required for localization to nuclear speckles (By similarity).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	p.R941H(1)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GTGCCCAGCACGCTGCTGCAC	0.577000													19	22					1.37522e-17	2.22233e-17	0.007413	1	0
PRKDC	5591	broad.mit.edu	37	8	48744433	48744433	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:48744433T>C	ENST00000314191.2	-	61	8260	c.8204A>G	c.(8203-8205)cAg>cGg	p.Q2735R	PRKDC_ENST00000338368.3_Missense_Mutation_p.Q2735R|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2736	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GAGCTTCTCCTGGTCCCTCAT	0.537000								Non-homologous end-joining					46	370					0	0	0.003610	0	0
COL2A1	1280	broad.mit.edu	37	12	48367956	48367956	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:48367956C>A	ENST00000380518.3	-	53	4397	c.4233G>T	c.(4231-4233)ctG>ctT	p.L1411L	COL2A1_ENST00000337299.6_Silent_p.L1342L|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1411	Fibrillar collagen NC1.				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)	CCTGGATGAGCAGGGCCTTCT	0.587000													11	74					3.07112e-06	3.61274e-06	0.010729	1	0
DPH6	89978	broad.mit.edu	37	15	35742886	35742886	+	Splice_Site	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr15:35742886C>A	ENST00000256538.4	-	5	531	c.505_splice	c.e5+1	p.G169_splice		NM_080650.3	NP_542381.1			diphthamine biosynthesis 6																		GGCTGCATACCCAAAGCTGCT	0.373000													14	37					6.81908e-15	1.03399e-14	0.002450	1	0
DUPD1	338599	broad.mit.edu	37	10	76803615	76803615	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:76803615G>T	ENST00000338487.5	-	2	360	c.361C>A	c.(361-363)Ctc>Atc	p.L121I		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	121	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AAGACACTGAGGTCGAAGGTG	0.682000													47	45					6.08268e-21	1.03496e-20	0.003610	1	0
OTUD6A	139562	broad.mit.edu	37	X	69282977	69282977	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chrX:69282977C>T	ENST00000338352.2	+	1	637	c.603C>T	c.(601-603)gaC>gaT	p.D201D		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	201	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						TCGGCTACGACGACTTCATGA	0.622000													14	22					0	0	0.003163	0	0
CPA5	93979	broad.mit.edu	37	7	129987644	129987644	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:129987644C>T	ENST00000485477.1	+	3	1283	c.154C>T	c.(154-156)Cag>Tag	p.Q52*	CPA5_ENST00000393213.3_Nonsense_Mutation_p.Q52*|CPA5_ENST00000474905.1_Nonsense_Mutation_p.Q52*|CPA5_ENST00000355388.3_Nonsense_Mutation_p.Q52*|CPA5_ENST00000461828.1_Nonsense_Mutation_p.Q52*|CPA5_ENST00000431780.2_Nonsense_Mutation_p.Q52*|CPA5_ENST00000466363.2_Nonsense_Mutation_p.Q52*			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	52					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					AGATGAGAAGCAGCTTTCACT	0.582000													15	15					0	0	0.003163	0	0
ENGASE	64772	broad.mit.edu	37	17	77077076	77077076	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:77077076G>T	ENST00000579016.1	+	6	793	c.793G>T	c.(793-795)Ggg>Tgg	p.G265W	ENGASE_ENST00000539857.2_Missense_Mutation_p.G79W	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	265						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GCAGGTCCCAGGGGGCCTGGT	0.592000													15	33					2.31682e-05	2.62211e-05	0.003163	1	0
OR10S1	219873	broad.mit.edu	37	11	123847878	123847878	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:123847878G>T	ENST00000531945.1	-	1	610	c.521C>A	c.(520-522)aCc>aAc	p.T174N		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		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)		GGTGAGGGAGGTGTGGATTGC	0.572000													25	26					1.64293e-13	2.38178e-13	0.003330	1	0
HERC2	8924	broad.mit.edu	37	15	28515907	28515907	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr15:28515907C>A	ENST00000261609.7	-	10	1299	c.1191G>T	c.(1189-1191)atG>atT	p.M397I		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	397					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTAAATGGGCCATGACAACAA	0.537000													17	40					4.14922e-12	5.78124e-12	0.004007	1	0
SPTBN2	6712	broad.mit.edu	37	11	66457400	66457400	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:66457400G>A	ENST00000533211.1	-	29	6156	c.5825C>T	c.(5824-5826)gCg>gTg	p.A1942V	SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1942V|SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1942V			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1942					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GACTAGATCCGCGGAGGACAC	0.632000													27	53					0	0	0.006320	0	0
ZNF136	7695	broad.mit.edu	37	19	12297713	12297713	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:12297713G>A	ENST00000343979.4	+	4	660	c.520G>A	c.(520-522)Gga>Aga	p.G174R	ZNF136_ENST00000398616.2_Missense_Mutation_p.G108R	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	174					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						TAAGGAATGTGGAAAAACCTT	0.378000													3	9					0	0	0.004672	0	0
INPP4B	8821	broad.mit.edu	37	4	143114323	143114323	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr4:143114323C>T	ENST00000513000.1	-	16	1531	c.1098G>A	c.(1096-1098)gtG>gtA	p.V366V	INPP4B_ENST00000262992.4_Silent_p.V366V|INPP4B_ENST00000509777.1_Silent_p.V366V|INPP4B_ENST00000508116.1_Silent_p.V366V|INPP4B_ENST00000308502.4_Silent_p.V366V	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	366					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)					CTGGGGCTCCCACAGTGATGA	0.428000													66	17					0	0	0.003610	0	0
TRAK2	66008	broad.mit.edu	37	2	202251067	202251067	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:202251067C>A	ENST00000332624.3	-	14	2265	c.1837G>T	c.(1837-1839)Gat>Tat	p.D613Y		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	613				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						TCCTCTTCATCCTCTTCTAAA	0.453000													20	58					3.51602e-12	4.90443e-12	0.008871	1	0
KALRN	8997	broad.mit.edu	37	3	124053317	124053317	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:124053317G>T	ENST00000360013.3	+	9	1743	c.1616G>T	c.(1615-1617)tGc>tTc	p.C539F	KALRN_ENST00000460856.1_Missense_Mutation_p.C539F|KALRN_ENST00000240874.3_Missense_Mutation_p.C539F	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	539					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						CTGCAGCTCTGCGTCTTCCAG	0.602000													24	11					3.5997e-14	5.34204e-14	0.002299	1	0
GABRA3	2556	broad.mit.edu	37	X	151393252	151393252	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chrX:151393252G>A	ENST00000370314.4	-	6	855	c.617C>T	c.(616-618)cCa>cTa	p.P206L	GABRA3_ENST00000535043.1_Missense_Mutation_p.P206L|GABRA3_ENST00000370311.1_Missense_Mutation_p.P206L	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	206					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAACTTCAGTGGGCAGGCATG	0.368000													22	63					0	0	0.002299	0	0
COL24A1	255631	broad.mit.edu	37	1	86308023	86308023	+	Splice_Site	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:86308023C>T	ENST00000370571.2	-	40	3882	c.3516_splice	c.e40+1	p.R1172_splice	COL24A1_ENST00000436319.1_Splice_Site_p.R1172_splice	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1172	Collagen-like 12.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AAATACTTACCCTGTACCCTG	0.303000													4	9					0	0	0.009096	0	0
PANX1	24145	broad.mit.edu	37	11	93913962	93913962	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:93913962A>G	ENST00000227638.3	+	5	1593	c.1208A>G	c.(1207-1209)aAc>aGc	p.N403S	PANX1_ENST00000436171.2_Intron	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	403					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACAGGTATGAACATAGACAGT	0.338000													9	20					0	0	0.006214	0	0
BLK	640	broad.mit.edu	37	8	11415488	11415488	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:11415488C>A	ENST00000259089.4	+	10	1562	c.970C>A	c.(970-972)Ctg>Atg	p.L324M	BLK_ENST00000529894.1_Missense_Mutation_p.L253M|RP11-148O21.4_ENST00000528629.1_RNA	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	324	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		GCTGGATTTCCTGAAGACAGA	0.557000													22	10					6.21321e-17	9.83759e-17	0.002780	1	0
GABRA2	2555	broad.mit.edu	37	4	46305630	46305630	+	Splice_Site	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr4:46305630C>A	ENST00000510861.1	-	8	877		c.e8-1		GABRA2_ENST00000356504.1_Splice_Site|GABRA2_ENST00000540012.1_Splice_Site|GABRA2_ENST00000515082.1_Splice_Site|GABRA2_ENST00000514090.1_Splice_Site|GABRA2_ENST00000507069.1_Splice_Site|GABRA2_ENST00000381620.4_Splice_Site			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2						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)	GTATATTCACCTGGAAGAAAA	0.333000													9	23					0.00448238	0.00470763	0.004482	1	0
SLC5A4	6527	broad.mit.edu	37	22	32617003	32617003	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr22:32617003G>T	ENST00000266086.4	-	14	1683	c.1672C>A	c.(1672-1674)Cgc>Agc	p.R558S	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	558					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAGCACAGGCGGTACAGCTGA	0.403000													41	7					1.58521e-26	2.86847e-26	0.005524	1	0
IGKV2D-24	28885	broad.mit.edu	37	2	90044287	90044287	+	RNA	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:90044287A>T	ENST00000462693.1	+	0	238																											CCAGCCTCCAAGACTCCTAAT	0.522000													37	121					0	0	0.007835	0	0
EIF3F	8665	broad.mit.edu	37	11	8009161	8009161	+	Missense_Mutation	SNP	G	G	A	rs143020927	by1000genomes	TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:8009161G>A	ENST00000533626.1	+	3	888	c.262G>A	c.(262-264)Ggc>Agc	p.G88S	EIF3F_ENST00000309828.4_Missense_Mutation_p.G88S|EIF3F_ENST00000449102.2_5'UTR|EIF3F_ENST00000537635.1_Missense_Mutation_p.G103S			O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3, subunit F	88	MPN.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCCTTCCCCGGCGGCCGCGT	0.672000											OREG0020726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	12					0	0	0.008291	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819209	50819209	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:50819209G>T	ENST00000374115.3	+	1	863	c.423G>T	c.(421-423)ttG>ttT	p.L141F	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	141					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TGAACCCCTTGAGCGGGCCCT	0.622000													51	14					1.21353e-23	2.14033e-23	0.003610	1	0
KCNA4	3739	broad.mit.edu	37	11	30032812	30032812	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:30032812T>A	ENST00000328224.6	-	2	2647	c.1414A>T	c.(1414-1416)Aga>Tga	p.R472*		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	472						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ATGCTGGCTCTGAGGGTGTGG	0.527000													14	61					0	0	0.002450	0	0
DSC1	1823	broad.mit.edu	37	18	28736079	28736079	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr18:28736079T>C	ENST00000257197.3	-	4	659	c.398A>G	c.(397-399)aAg>aGg	p.K133R	DSC1_ENST00000257198.5_Missense_Mutation_p.K133R|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	133					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CCATCGTCTCTTGCTGCGCTT	0.408000													27	62					0	0	0.005443	0	0
AACS	65985	broad.mit.edu	37	12	125612781	125612781	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:125612781C>T	ENST00000316519.6	+	13	1590	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	AACS_ENST00000261686.6_Missense_Mutation_p.R462W|AACS_ENST00000316543.10_Missense_Mutation_p.R60W|AACS_ENST00000545511.1_Silent_p.P41P	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	462					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	p.R462R(1)		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)		GATTCAGGCCCGGAACCTGGG	0.542000													11	34					0	0	0.010729	0	0
WDR70	55100	broad.mit.edu	37	5	37396476	37396476	+	Splice_Site	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:37396476G>T	ENST00000265107.4	+	5	452		c.e5-1		WDR70_ENST00000504564.1_Splice_Site	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70											central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGTATTTTCAGGGATACGAGC	0.398000													49	54					8.72198e-27	1.58054e-26	0.003610	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110467032	110467032	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:110467032C>T	ENST00000378402.5	+	45	6929	c.6825C>T	c.(6823-6825)gtC>gtT	p.V2275V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2275	G8 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGCTCCCTGTCTATGGTGCCA	0.522000										HNSCC(38;0.096)			75	42					0	0	0.003610	0	0
USH2A	7399	broad.mit.edu	37	1	216019345	216019345	+	Missense_Mutation	SNP	T	T	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:216019345T>G	ENST00000366943.2	-	45	9262	c.8876A>C	c.(8875-8877)tAt>tCt	p.Y2959S	USH2A_ENST00000307340.3_Missense_Mutation_p.Y2959S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2959	Fibronectin type-III 16.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			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)		AAGTGTGTAATATTCAACTTC	0.393000										HNSCC(13;0.011)			20	9					0	0	0.012319	0	0
GRM7	2917	broad.mit.edu	37	3	7188305	7188305	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:7188305G>C	ENST00000486284.1	+	2	960	c.686G>C	c.(685-687)aGt>aCt	p.S229T	GRM7_ENST00000402647.2_Missense_Mutation_p.S229T|GRM7_ENST00000389336.4_Missense_Mutation_p.S229T|GRM7_ENST00000403881.1_Missense_Mutation_p.S229T|GRM7_ENST00000357716.4_Missense_Mutation_p.S229T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	229					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TCGGAAGGAAGTTATGGAGAG	0.522000													24	16					0	0	0.004656	0	0
GLT1D1	144423	broad.mit.edu	37	12	129431967	129431967	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:129431967C>T	ENST00000442111.2	+	10	832	c.744C>T	c.(742-744)agC>agT	p.S248S	GLT1D1_ENST00000542193.1_Silent_p.S165S|GLT1D1_ENST00000537468.1_Silent_p.S253S|GLT1D1_ENST00000281703.6_Silent_p.S168S			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	248					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		TGGTGAATAGCTCTGTCTCTG	0.473000													24	47					0	0	0.003954	0	0
NOL4	8715	broad.mit.edu	37	18	31463354	31463354	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr18:31463354G>T	ENST00000261592.5	-	10	1874	c.1577C>A	c.(1576-1578)cCa>cAa	p.P526Q	NOL4_ENST00000538587.1_Missense_Mutation_p.P452Q|NOL4_ENST00000535384.1_Missense_Mutation_p.P241Q|NOL4_ENST00000269185.4_Missense_Mutation_p.P310Q|NOL4_ENST00000589544.1_Missense_Mutation_p.P424Q|NOL4_ENST00000535475.1_Missense_Mutation_p.P307Q	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	526						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GGTCGCCTCTGGTTTACACTG	0.468000													39	43					9.8876e-21	1.67329e-20	0.004878	1	0
AEBP1	165	broad.mit.edu	37	7	44153353	44153353	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:44153353C>G	ENST00000223357.3	+	21	3275	c.2970C>G	c.(2968-2970)atC>atG	p.I990M	AEBP1_ENST00000450684.2_Missense_Mutation_p.I565M	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	990	Required for transcriptional repression (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GGAAGCGCATCCGGGAGATCA	0.617000													21	98					0	0	0.010504	0	0
UBE2E3	10477	broad.mit.edu	37	2	181922478	181922478	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:181922478G>T	ENST00000410062.4	+	4	697	c.304G>T	c.(304-306)Ggt>Tgt	p.G102C	UBE2E3_ENST00000602837.1_3'UTR|UBE2E3_ENST00000602710.1_Missense_Mutation_p.G102C|UBE2E3_ENST00000392415.2_Missense_Mutation_p.G102C|UBE2E3_ENST00000602959.1_Missense_Mutation_p.G102C	NM_006357.2	NP_006348.1	Q969T4	UB2E3_HUMAN	ubiquitin-conjugating enzyme E2E 3	102					protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth	cytoplasm|nucleolus	ATP binding|protein binding|ubiquitin-protein ligase activity			breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						TGGTCCACCGGGTTCTGTATA	0.343000													19	109					1.28384e-07	1.58302e-07	0.012319	1	0
PADI1	29943	broad.mit.edu	37	1	17531764	17531764	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:17531764G>T	ENST00000375471.4	+	1	144	c.52G>T	c.(52-54)Gtg>Ttg	p.V18L		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	18					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	TACCCATGCCGTGTGTGTGGT	0.592000													22	6					1.50039e-11	2.05179e-11	0.012319	1	0
TTN	7273	broad.mit.edu	37	2	179528591	179528591	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:179528591C>T	ENST00000589042.1	-	170	36627	c.36403G>A	c.(36403-36405)Gtg>Atg	p.V12135M	TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10284							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)			GCCAAGGGCACTTTCTCTTCG	0.408000													58	193					0	0	0.003610	0	0
XYLT1	64131	broad.mit.edu	37	16	17221621	17221621	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr16:17221621C>A	ENST00000261381.6	-	10	2209	c.2125G>T	c.(2125-2127)Gtg>Ttg	p.V709L		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	709					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGTTTGCTCACAGCCAGATTG	0.522000													85	103					1.68737e-39	3.25032e-39	0.003610	1	0
RC3H2	54542	broad.mit.edu	37	9	125621336	125621336	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr9:125621336C>A	ENST00000373670.1	-	11	2495	c.1895G>T	c.(1894-1896)tGt>tTt	p.C632F	RC3H2_ENST00000357244.2_Missense_Mutation_p.C632F|RC3H2_ENST00000423239.2_Missense_Mutation_p.C632F			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	632	Pro-rich.					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GCGAGGAACACAGGGAGCCAC	0.453000													9	19					0.000274275	0.000296245	0.004482	1	0
EPHA5	2044	broad.mit.edu	37	4	66280009	66280009	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr4:66280009G>T	ENST00000273854.3	-	7	2280	c.1680C>A	c.(1678-1680)acC>acA	p.T560T	EPHA5_ENST00000511294.1_Silent_p.T560T|EPHA5_ENST00000432638.2_Silent_p.T396T|EPHA5_ENST00000354839.4_Silent_p.T560T	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	560					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TACACACTGGGGTGGTTTCAA	0.453000										TSP Lung(17;0.13)			28	5					3.65163e-15	5.57752e-15	0.006320	1	0
DSG2	1829	broad.mit.edu	37	18	29116302	29116302	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr18:29116302G>T	ENST00000261590.8	+	11	1770	c.1561G>T	c.(1561-1563)Gat>Tat	p.D521Y		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	521					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AGAGGACCTGGATGGACACCC	0.463000													34	36					5.04308e-16	7.89516e-16	0.006230	1	0
APOA4	337	broad.mit.edu	37	11	116693874	116693874	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:116693874G>T	ENST00000357780.3	-	1	148	c.34C>A	c.(34-36)Ctg>Atg	p.L12M		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)		ACAGCCACCAGGGCCAGGGTC	0.587000													66	88					3.07281e-33	5.80318e-33	0.003610	1	0
RYR3	6263	broad.mit.edu	37	15	33893708	33893708	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr15:33893708G>T	ENST00000389232.4	+	17	1947	c.1877G>T	c.(1876-1878)cGg>cTg	p.R626L	RYR3_ENST00000415757.3_Missense_Mutation_p.R626L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	626	B30.2/SPRY 1.				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)		TTGCTGCCCCGGAGAAACCTA	0.527000													5	22					1.23904e-05	1.42025e-05	0.000602	1	0
MYH4	4622	broad.mit.edu	37	17	10358039	10358039	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:10358039G>T	ENST00000255381.2	-	22	2634	c.2524C>A	c.(2524-2526)Ccc>Acc	p.P842T	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	842					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.P842T(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTGAGGAGGGGCTTGATCTTG	0.453000													51	49					1.07234e-20	1.81229e-20	0.003610	1	0
GDPD3	79153	broad.mit.edu	37	16	30124062	30124062	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr16:30124062C>A	ENST00000406256.3	-	3	612	c.235G>T	c.(235-237)Gac>Tac	p.D79Y		NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	79	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						ACCACTCTGTCCCGTGTCAGC	0.657000											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	50					4.78724e-31	8.93334e-31	0.003610	1	0
LAMB4	22798	broad.mit.edu	37	7	107704254	107704254	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:107704254G>T	ENST00000388781.3	-	22	3096	c.3013C>A	c.(3013-3015)Ctc>Atc	p.L1005I	LAMB4_ENST00000388780.3_Missense_Mutation_p.L1005I|LAMB4_ENST00000205386.4_Missense_Mutation_p.L1005I	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1005	Laminin EGF-like 10.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GGTTTGCAGAGCTGGCAGTTT	0.522000													118	53					2.12763e-61	4.22828e-61	0.003610	1	0
FSHR	2492	broad.mit.edu	37	2	49195959	49195959	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:49195959C>A	ENST00000406846.2	-	9	851	c.732G>T	c.(730-732)ctG>ctT	p.L244L	FSHR_ENST00000346173.3_Intron|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000304421.4_Silent_p.L218L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	244					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	ACCTGGCCCTCAGCTTCTTAA	0.433000									Gonadal Dysgenesis, 46 XX				35	21					1.90571e-15	2.92862e-15	0.004289	1	0
TRPC5	7224	broad.mit.edu	37	X	111155752	111155752	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chrX:111155752G>T	ENST00000262839.2	-	3	1585	c.667C>A	c.(667-669)Ctg>Atg	p.L223M		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	223					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCCCAGCCCAGACGGAAGGCA	0.557000													44	106					9.84934e-19	1.62088e-18	0.010771	1	0
LRP1B	53353	broad.mit.edu	37	2	141093184	141093184	+	Splice_Site	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:141093184C>T	ENST00000389484.3	-	78	13087	c.12116_splice	c.e78+1	p.G4039_splice		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4039					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)		ATTAACCTACCCTCTTTTAGG	0.368000										TSP Lung(27;0.18)			22	88					0	0	0.012319	0	0
PCMTD1	115294	broad.mit.edu	37	8	52733126	52733126	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:52733126T>A	ENST00000360540.5	-	7	1265	c.859A>T	c.(859-861)Act>Tct	p.T287S	PCMTD1_ENST00000522514.1_Missense_Mutation_p.T287S|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.T211S	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	287						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				AATACGTAAGTGTTAATTCTC	0.393000													6	126					0	0	0.008291	0	0
ENPP2	5168	broad.mit.edu	37	8	120629482	120629482	+	Splice_Site	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:120629482C>A	ENST00000427067.2	-	7	747	c.565_splice	c.e7-1	p.R189_splice	ENPP2_ENST00000522826.1_Splice_Site_p.R193_splice|ENPP2_ENST00000075322.6_Splice_Site_p.R193_splice|ENPP2_ENST00000259486.6_Splice_Site_p.R193_splice			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	193					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGCCACAAGACCCTGGAAAGA	0.383000													11	45					3.07112e-06	3.61274e-06	0.010729	1	0
SLC35F2	54733	broad.mit.edu	37	11	107663485	107663485	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:107663485C>A	ENST00000525071.1	-	11	1562	c.974G>T	c.(973-975)tGg>tTg	p.W325L	SLC35F2_ENST00000429869.1_Silent_p.V327V|SLC35F2_ENST00000375682.4_Silent_p.V280V|SLC35F2_ENST00000525815.1_Silent_p.V327V|SLC35F2_ENST00000265836.7_Silent_p.V179V			Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	329					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		GGATAAACCCCACCATGATGA	0.547000													9	15					2.17888e-05	2.47492e-05	0.006214	1	0
SLC12A5	57468	broad.mit.edu	37	20	44676202	44676202	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr20:44676202G>T	ENST00000454036.1	+	15	2042	c.1966G>T	c.(1966-1968)Gag>Tag	p.E656*	SLC12A5_ENST00000539566.1_3'UTR|SLC12A5_ENST00000243964.3_Nonsense_Mutation_p.E633*	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	656					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAAGTACATTGAGTACCGTgg	0.572000													32	74					2.42023e-17	3.87608e-17	0.003271	1	0
PPP1R16B	26051	broad.mit.edu	37	20	37546873	37546873	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr20:37546873C>A	ENST00000299824.1	+	11	1457	c.1268C>A	c.(1267-1269)cCt>cAt	p.P423H	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.P381H	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	423					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CTGGACATGCCTGTTGAGAAT	0.577000													42	139					2.59497e-14	3.86931e-14	0.007835	1	0
DHRS4	10901	broad.mit.edu	37	14	24424307	24424307	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr14:24424307G>A	ENST00000313250.5	+	2	395	c.192G>A	c.(190-192)cgG>cgA	p.R64R	DHRS4_ENST00000397073.2_Silent_p.R46R|DHRS4_ENST00000543741.2_Silent_p.R64R|DHRS4_ENST00000397074.3_Silent_p.R64R|DHRS4_ENST00000397075.3_Silent_p.R64R|DHRS4_ENST00000558581.1_Silent_p.R64R|DHRS4_ENST00000382761.3_Silent_p.R46R|DHRS4_ENST00000421831.1_Silent_p.R46R|DHRS4_ENST00000559632.1_Silent_p.R64R|DHRS4_ENST00000308178.8_Silent_p.R46R|DHRS4_ENST00000558263.1_Silent_p.R64R	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	64						mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	TCAGCAGCCGGAAGCAGCAGA	0.667000													21	62					0	0	0.012319	0	0
PDE10A	10846	broad.mit.edu	37	6	165846533	165846533	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:165846533C>A	ENST00000366882.1	-	8	746	c.592G>T	c.(592-594)Ggt>Tgt	p.G198C	PDE10A_ENST00000539869.2_Missense_Mutation_p.G208C|PDE10A_ENST00000354448.4_Missense_Mutation_p.G198C			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	198	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	ATCAAGTCACCAATTGCAGTG	0.443000													17	23					1.5739e-10	2.09075e-10	0.004007	1	0
NRCAM	4897	broad.mit.edu	37	7	107872908	107872908	+	Missense_Mutation	SNP	T	T	C	rs150121000		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:107872908T>C	ENST00000379028.3	-	7	759	c.289A>G	c.(289-291)Atg>Gtg	p.M97V	NRCAM_ENST00000425651.2_Missense_Mutation_p.M97V|NRCAM_ENST00000351718.4_Missense_Mutation_p.M91V|NRCAM_ENST00000413765.2_Missense_Mutation_p.M97V|NRCAM_ENST00000379022.4_Missense_Mutation_p.M97V|NRCAM_ENST00000379024.4_Missense_Mutation_p.M97V			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	97	Ig-like 1.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CCAGGCTTCATGGTGACCAGA	0.473000													35	89					0	0	0.003755	0	0
IGDCC4	57722	broad.mit.edu	37	15	65684694	65684694	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr15:65684694C>T	ENST00000352385.2	-	11	2109	c.1900G>A	c.(1900-1902)Gca>Aca	p.A634T		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	634	Fibronectin type-III 3.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TTCAACTCTGCAGGGGCAAAA	0.557000													13	34					0	0	0.001855	0	0
MIR876	100126310	broad.mit.edu	37	9	28863632	28863632	+	RNA	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr9:28863632T>A	ENST00000401147.1	-	0	72					NR_030597.1																						TGTGAAGCACTATGAATTACT	0.403000													24	24					0	0	0.003954	0	0
DDX23	9416	broad.mit.edu	37	12	49233639	49233639	+	Silent	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:49233639T>C	ENST00000308025.3	-	5	547	c.468A>G	c.(466-468)gaA>gaG	p.E156E	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	156	Glu-rich.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TAGCCTCAGCTTCTTCCTCAG	0.453000													19	27					0	0	0.012319	0	0
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020721	33020721	+	RNA	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr16:33020721C>T	ENST00000565407.2	+	0	129				RP11-19N8.2_ENST00000567619.1_RNA																							CCTGTCCAGCCTCTGGATTCA	0.567000													135	163					0	0	0.003610	0	0
NARS2	79731	broad.mit.edu	37	11	78204233	78204233	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:78204233G>A	ENST00000281038.5	-	7	1073	c.698C>T	c.(697-699)aCt>aTt	p.T233I	NARS2_ENST00000528850.1_Missense_Mutation_p.T6I	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	233					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	AAACACTTGAGTAAAAGCTCT	0.353000													23	31					0	0	0.003954	0	0
APOA4	337	broad.mit.edu	37	11	116692386	116692386	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:116692386C>A	ENST00000357780.3	-	3	502	c.388G>T	c.(388-390)Gag>Tag	p.E130*		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)		tgctgaagctctcgcaggttg	0.667000													11	15					1.58986e-06	1.89875e-06	0.008291	1	0
COL6A2	1292	broad.mit.edu	37	21	47537831	47537831	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr21:47537831G>A	ENST00000300527.4	+	12	1201	c.1097G>A	c.(1096-1098)cGa>cAa	p.R366Q	COL6A2_ENST00000409416.1_Missense_Mutation_p.R366Q|COL6A2_ENST00000397763.1_Missense_Mutation_p.R366Q|COL6A2_ENST00000357838.4_Missense_Mutation_p.R366Q|COL6A2_ENST00000310645.5_Missense_Mutation_p.R366Q	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	366	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCAGGGGAGCGAGGAGACCAA	0.682000													10	18					0	0	0.010729	0	0
SERPINE1	5054	broad.mit.edu	37	7	100773862	100773862	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:100773862C>A	ENST00000223095.4	+	3	589	c.432C>A	c.(430-432)gtC>gtA	p.V144V	SERPINE1_ENST00000445463.2_Silent_p.V129V	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	144					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)	GGAGCACGGTCAAGCAAGTGG	0.537000													116	120					1.01443e-56	2.00645e-56	0.003610	1	0
RIMS2	9699	broad.mit.edu	37	8	104709475	104709475	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:104709475C>A	ENST00000406091.3	+	2	338	c.338C>A	c.(337-339)aCa>aAa	p.T113K		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	144	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TATTGCCAAACAAAGTTCTGT	0.418000										HNSCC(12;0.0054)			42	140					4.18559e-23	7.3102e-23	0.003610	1	0
GPRIN2	9721	broad.mit.edu	37	10	46999723	46999723	+	Missense_Mutation	SNP	G	G	T	rs71265691	byFrequency	TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:46999723G>T	ENST00000374314.4	+	1	1798	c.843G>T	c.(841-843)agG>agT	p.R281S	GPRIN2_ENST00000374317.1_Missense_Mutation_p.R281S			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	281										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TCCACTGTAGGTTGTCTGGGG	0.602000													23	40					5.35047e-06	6.2472e-06	0.003330	1	0
SH2D1B	117157	broad.mit.edu	37	1	162372571	162372571	+	Silent	SNP	T	T	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:162372571T>G	ENST00000367929.2	-	2	265	c.156A>C	c.(154-156)acA>acC	p.T52T	SH2D1B_ENST00000493550.1_5'UTR|SH2D1B_ENST00000359567.3_Silent_p.T52T	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	52	SH2.									kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			AGATTCGGTATGTGTAGACAA	0.368000													7	33					0	0	0.001984	0	0
SECTM1	6398	broad.mit.edu	37	17	80282697	80282697	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:80282697C>A	ENST00000269389.3	-	3	514	c.164G>T	c.(163-165)tGc>tTc	p.C55F	SECTM1_ENST00000580437.1_Missense_Mutation_p.C55F	NM_003004.2	NP_002995.1	Q8WVN6	SCTM1_HUMAN	secreted and transmembrane 1	55					immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular space|Golgi apparatus|integral to membrane|plasma membrane	cytokine activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			GGAGATGTTGCAGGACATGAC	0.602000													3	9					6.4e-05	7.11016e-05	0.004672	1	0
PPM1E	22843	broad.mit.edu	37	17	57057409	57057409	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:57057409T>C	ENST00000308249.2	+	7	1414	c.1285T>C	c.(1285-1287)Tac>Cac	p.Y429H		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	438	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			GACCGAAGACTACCTCATTCT	0.512000													10	25					0	0	0.001855	0	0
UNC80	285175	broad.mit.edu	37	2	210650818	210650818	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:210650818G>T	ENST00000439458.1	+	5	709	c.629G>T	c.(628-630)aGt>aTt	p.S210I	UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Missense_Mutation_p.S210I	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	210						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						CGTCTGGCCAGTGGGCTTGTT	0.502000													23	76					3.5997e-14	5.34204e-14	0.002299	1	0
BMPR1A	657	broad.mit.edu	37	10	88651967	88651967	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:88651967G>T	ENST00000372037.2	+	5	851	c.314G>T	c.(313-315)gGa>gTa	p.G105V		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	105					BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						AAATATGAAGGATCTGATTTT	0.408000			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2				10	15					9.70103e-10	1.26325e-09	0.008291	1	0
C19orf12	83636	broad.mit.edu	37	19	30199321	30199321	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:30199321C>A	ENST00000392278.2	-	2	159	c.33G>T	c.(31-33)acG>acT	p.T11T	C19orf12_ENST00000592153.1_5'UTR|C19orf12_ENST00000392275.1_Intron|C19orf12_ENST00000323670.9_5'UTR|C19orf12_ENST00000392276.1_Intron	NM_001031726.3	NP_001026896.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	0						integral to membrane						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			TGATAGTCATCGTGGCGGGCC	0.517000													30	44					2.20474e-14	3.29921e-14	0.003755	1	0
ARHGAP5	394	broad.mit.edu	37	14	32560934	32560934	+	Silent	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr14:32560934A>G	ENST00000345122.3	+	2	1374	c.1059A>G	c.(1057-1059)ctA>ctG	p.L353L	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Silent_p.L353L|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Silent_p.L353L|ARHGAP5_ENST00000539826.2_Silent_p.L353L	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	353					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TGCCAAATCTAGAAGAGATTG	0.328000													40	28					0	0	0.007835	0	0
CEP350	9857	broad.mit.edu	37	1	180062310	180062310	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:180062310A>G	ENST00000367607.3	+	34	7488	c.7070A>G	c.(7069-7071)aAg>aGg	p.K2357R	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2357						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AAGAACACAAAGGAAAAAGAT	0.343000													12	7					0	0	0.010729	0	0
MTRR	4552	broad.mit.edu	37	5	7892928	7892928	+	Missense_Mutation	SNP	G	G	A	rs137853061		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:7892928G>A	ENST00000264668.2	+	11	1570	c.1540G>A	c.(1540-1542)Gga>Aga	p.G514R	MTRR_ENST00000440940.2_Missense_Mutation_p.G487R	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	514	FAD-binding FR-type.		G -> R (in cblE).		methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	TCTGCGGAAGGGAGTATGTAC	0.478000													111	45					0	0	0.003610	0	0
HMG20A	10363	broad.mit.edu	37	15	77771520	77771520	+	Splice_Site	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr15:77771520G>T	ENST00000381714.3	+	10	1335		c.e10-1		HMG20A_ENST00000336216.4_Splice_Site	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A						chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TCTCACTTCAGGAAGTGGAGA	0.378000													8	45					4.68919e-08	5.85099e-08	0.008291	1	0
ZNF688	146542	broad.mit.edu	37	16	30582916	30582916	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr16:30582916C>A	ENST00000223459.6	-	1	1139	c.35G>T	c.(34-36)aGg>aTg	p.R12M	ZNF688_ENST00000395219.1_Intron|ZNF688_ENST00000567855.1_Missense_Mutation_p.R12M|ZNF688_ENST00000563707.1_Missense_Mutation_p.R12M	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CTCCCCGGGCCTCGGCGCCAG	0.776000													3	1					6.4e-05	7.11016e-05	0.004672	1	0
DSE	29940	broad.mit.edu	37	6	116752286	116752286	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:116752286C>T	ENST00000331677.3	+	5	1284	c.840C>T	c.(838-840)ttC>ttT	p.F280F	DSE_ENST00000452085.3_Silent_p.F280F|DSE_ENST00000359564.2_Silent_p.F280F|DSE_ENST00000537543.1_Silent_p.F299F			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	280					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AGAGGCACTTCAACATCAACC	0.468000													11	22					0	0	0.008291	0	0
NPAP1	23742	broad.mit.edu	37	15	24921201	24921201	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr15:24921201A>T	ENST00000329468.2	+	1	661	c.187A>T	c.(187-189)Agc>Tgc	p.S63C		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TTCAGCAGCCAGCATCTTCGT	0.731000													14	46					0	0	0.002450	0	0
CD200R1L	344807	broad.mit.edu	37	3	112564525	112564525	+	Splice_Site	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:112564525C>A	ENST00000488794.1	-	2	504		c.e2+1		CD200R1L_ENST00000398214.1_Splice_Site|CD200R1L_ENST00000448932.1_Splice_Site			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like							integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						ATCAGACTTACCAGACACCAT	0.338000													40	43					1.76056e-25	3.16749e-25	0.011902	1	0
TTF1	7270	broad.mit.edu	37	9	135277662	135277662	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr9:135277662C>A	ENST00000334270.2	-	2	586	c.547G>T	c.(547-549)Gca>Tca	p.A183S		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	183	N-terminal region (NRD) (By similarity).				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GTGTCCCTTGCCCGCTGGCTC	0.498000													24	9					5.35356e-11	7.21091e-11	0.002780	1	0
PCDHB15	56121	broad.mit.edu	37	5	140627302	140627302	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:140627302C>A	ENST00000231173.3	+	1	2156	c.2156C>A	c.(2155-2157)gCg>gAg	p.A719E		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		719			A -> V (in a breast cancer sample; somatic mutation).		homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A719V(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAGCAGGGCGGCCTCAGTG	0.647000													120	49					4.9928e-70	1.00015e-69	0.003610	1	0
RBM8A	9939	broad.mit.edu	37	1	145507688	145507688	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:145507688C>T	ENST00000330165.7	+	1	91	c.22C>T	c.(22-24)Cac>Tac	p.H8Y	RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000596355.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RBM8A_ENST00000369307.3_Missense_Mutation_p.H8Y|RP11-315I20.1_ENST00000447686.2_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A	8					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	mRNA binding|nucleotide binding|protein binding			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCTAGATCTTCACGAGGCTGG	0.602000											OREG0013748	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	4					0	0	0.003080	0	0
KIAA1210	57481	broad.mit.edu	37	X	118220680	118220680	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chrX:118220680A>T	ENST00000402510.2	-	11	4512	c.4513T>A	c.(4513-4515)Tcg>Acg	p.S1505T		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1505										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						ATTGGGCCCGAGGGCACTGAA	0.488000													15	7					0	0	0.003163	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433718	73433718	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:73433718G>T	ENST00000263666.4	-	10	2113	c.1999C>A	c.(1999-2001)Cct>Act	p.P667T	PDZRN3_ENST00000479530.1_Missense_Mutation_p.P384T|PDZRN3_ENST00000462146.2_Missense_Mutation_p.P324T|PDZRN3_ENST00000535920.1_Missense_Mutation_p.P389T|PDZRN3_ENST00000466780.1_Missense_Mutation_p.P324T	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	667							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGGCCGCTAGGGTAGTACAGG	0.652000													21	93					4.35082e-09	5.58436e-09	0.010504	1	0
RAD51AP1	10635	broad.mit.edu	37	12	4657954	4657954	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:4657954G>T	ENST00000228843.9	+	7	609	c.559G>T	c.(559-561)Ggc>Tgc	p.G187C	RAD51AP1_ENST00000543041.1_Missense_Mutation_p.G52C|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.G170C|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.G187C|RAD51AP1_ENST00000544927.1_Missense_Mutation_p.G170C	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	RAD51 associated protein 1	187					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			TCTTCTGGAAGGCAGTGATGG	0.403000													58	8					3.84483e-29	7.06953e-29	0.003610	1	0
FLG	2312	broad.mit.edu	37	1	152280877	152280877	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:152280877C>G	ENST00000368799.1	-	3	6520	c.6485G>C	c.(6484-6486)gGa>gCa	p.G2162A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2162	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)			CCCTGAGTGTCCAGACCTATC	0.567000									Ichthyosis				244	375					0	0	0.003610	0	0
COPA	1314	broad.mit.edu	37	1	160281721	160281721	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:160281721T>C	ENST00000241704.7	-	11	1242	c.1013A>G	c.(1012-1014)gAc>gGc	p.D338G	COPA_ENST00000368069.3_Missense_Mutation_p.D338G	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	338					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TAAGAATCGGTCCTTGACATA	0.493000													6	31					0	0	0.003080	0	0
LAMB4	22798	broad.mit.edu	37	7	107704224	107704224	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:107704224G>T	ENST00000388781.3	-	22	3126	c.3043C>A	c.(3043-3045)Ctc>Atc	p.L1015I	LAMB4_ENST00000388780.3_Missense_Mutation_p.L1015I|LAMB4_ENST00000205386.4_Missense_Mutation_p.L1015I	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1015	Laminin EGF-like 10.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GTCTGATTGAGGGCTGATCCA	0.522000													34	143					1.47197e-15	2.26763e-15	0.007835	1	0
FCHSD2	9873	broad.mit.edu	37	11	72598594	72598594	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:72598594C>A	ENST00000409314.1	-	13	1307	c.1139G>T	c.(1138-1140)gGa>gTa	p.G380V	FCHSD2_ENST00000409418.4_Missense_Mutation_p.G356V|FCHSD2_ENST00000458644.2_Missense_Mutation_p.G220V|FCHSD2_ENST00000311172.7_Missense_Mutation_p.G300V|FCHSD2_ENST00000409853.1_Missense_Mutation_p.G300V			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	356							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TACAGCAGCTCCATGACACTC	0.358000													32	62					1.74807e-11	2.38269e-11	0.010818	1	0
RPL31P11	641311	broad.mit.edu	37	1	161654836	161654836	+	RNA	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:161654836C>A	ENST00000426558.1	-	0	206					NR_002595.1																						TTCCCATCTCCTTCATGCCAA	0.512000													11	8					1.61879e-10	2.14811e-10	0.001368	1	0
ZNF423	23090	broad.mit.edu	37	16	49671819	49671819	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr16:49671819G>T	ENST00000561648.1	-	4	1297	c.1244C>A	c.(1243-1245)tCc>tAc	p.S415Y	ZNF423_ENST00000562871.1_Missense_Mutation_p.S355Y|ZNF423_ENST00000562520.1_Missense_Mutation_p.S355Y|ZNF423_ENST00000262383.2_Missense_Mutation_p.S415Y|ZNF423_ENST00000567169.1_Missense_Mutation_p.S298Y|ZNF423_ENST00000563137.2_Missense_Mutation_p.S355Y|ZNF423_ENST00000535559.1_Missense_Mutation_p.S298Y	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	415					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)				GTCCCGCTTGGAACAATAGGG	0.612000													19	33					5.03518e-11	6.78938e-11	0.007413	1	0
IGHV4-31	28396	broad.mit.edu	37	14	106805611	106805611	+	RNA	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr14:106805611C>A	ENST00000438142.2	-	0	105																											CTGGGAGCTGCCACCAGCAGG	0.532000													22	49					3.99451e-17	6.37292e-17	0.009535	1	0
TMEM132B	114795	broad.mit.edu	37	12	126135290	126135290	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:126135290C>T	ENST00000299308.3	+	7	1698	c.1690C>T	c.(1690-1692)Cag>Tag	p.Q564*	TMEM132B_ENST00000535886.1_Nonsense_Mutation_p.Q76*	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	564						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CTGCTCCCTGCAGTACCAGCA	0.572000													21	54					0	0	0.002299	0	0
TRPM1	4308	broad.mit.edu	37	15	31353687	31353687	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr15:31353687G>A	ENST00000542188.1	-	9	1484	c.1171C>T	c.(1171-1173)Cag>Tag	p.Q391*	TRPM1_ENST00000397795.2_Nonsense_Mutation_p.Q352*|TRPM1_ENST00000256552.6_Nonsense_Mutation_p.Q374*	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	352					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ATGTCCTGCTGGCCCTCAGAA	0.468000													4	32					0	0	0.009096	0	0
OR6N2	81442	broad.mit.edu	37	1	158747146	158747146	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:158747146A>T	ENST00000339258.1	-	1	279	c.280T>A	c.(280-282)Ttt>Att	p.F94I		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					CATCCTGCAAAAGAAATGGTT	0.443000													32	78					0	0	0.008361	0	0
FBXL7	23194	broad.mit.edu	37	5	15936989	15936989	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:15936989G>T	ENST00000504595.1	+	4	1651	c.1170G>T	c.(1168-1170)acG>acT	p.T390T	FBXL7_ENST00000510662.1_Silent_p.T343T|FBXL7_ENST00000329673.7_Silent_p.T378T	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	390					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						AGGGCATCACGGACCACGGTG	0.627000													24	29					3.83957e-06	4.51248e-06	0.002780	1	0
CCDC63	160762	broad.mit.edu	37	12	111319093	111319093	+	Missense_Mutation	SNP	G	G	C	rs143591206		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:111319093G>C	ENST00000308208.5	+	7	1088	c.846G>C	c.(844-846)agG>agC	p.R282S	CCDC63_ENST00000552694.1_Missense_Mutation_p.R203S|CCDC63_ENST00000545036.1_Missense_Mutation_p.R242S	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	282										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						AGGCCAAAAGGGAGGAAGGTA	0.507000													13	22					0	0	0.001855	0	0
FAM98A	25940	broad.mit.edu	37	2	33810093	33810093	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:33810093C>G	ENST00000238823.8	-	8	1447	c.1307G>C	c.(1306-1308)gGa>gCa	p.G436A	FAM98A_ENST00000441530.2_Missense_Mutation_p.G241A|FAM98A_ENST00000403368.1_3'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	437	Gly-rich.									NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					ACCCTGGTATCCACTTCCTGT	0.567000													54	51					0	0	0.003610	0	0
CKAP4	10970	broad.mit.edu	37	12	106633389	106633389	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:106633389C>A	ENST00000378026.4	-	2	1358	c.1222G>T	c.(1222-1224)Gga>Tga	p.G408*		NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	408						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						GAGTCCAGTCCCTGACTCTTT	0.627000													46	49					8.72198e-27	1.58054e-26	0.003610	1	0
OR4L1	122742	broad.mit.edu	37	14	20529046	20529046	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr14:20529046A>T	ENST00000315683.1	+	1	843	c.843A>T	c.(841-843)ttA>ttT	p.L281F		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TCACACCCTTACTGAATCCGA	0.353000													9	20					0	0	0.001368	0	0
ING1	3621	broad.mit.edu	37	13	111367799	111367799	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr13:111367799C>T	ENST00000375774.3	+	1	471	c.9C>T	c.(7-9)ttC>ttT	p.F3F	ING1_ENST00000333219.7_Intron|ING1_ENST00000464141.1_3'UTR|ING1_ENST00000338450.7_Intron|ING1_ENST00000375775.3_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	3					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGATGTCCTTCGTGGAATGTC	0.527000													28	31					0	0	0.006320	0	0
NF1	4763	broad.mit.edu	37	17	29548883	29548883	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:29548883C>T	ENST00000358273.4	+	15	2040	c.1657C>T	c.(1657-1659)Cat>Tat	p.H553Y	NF1_ENST00000356175.3_Missense_Mutation_p.H553Y|NF1_ENST00000431387.4_Missense_Mutation_p.H553Y	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	553					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCTGGTTCTTCATCAGTTAGA	0.303000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			18	5					0	0	0.010504	0	0
LMX1A	4009	broad.mit.edu	37	1	165175220	165175220	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:165175220T>A	ENST00000342310.3	-	8	1251	c.869A>T	c.(868-870)tAc>tTc	p.Y290F	LMX1A_ENST00000294816.2_Missense_Mutation_p.Y290F|LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000367893.4_Missense_Mutation_p.Y290F	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	290						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CAGAGCCGTGTAGGGGTTCAT	0.582000													36	37					0	0	0.006999	0	0
LRP2	4036	broad.mit.edu	37	2	169997053	169997053	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:169997053T>C	ENST00000263816.3	-	72	13396	c.13111A>G	c.(13111-13113)Atc>Gtc	p.I4371V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4371					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)	GGCAGTTCGATGGCTGCAGGA	0.552000													10	34					0	0	0.006214	0	0
FAM171B	165215	broad.mit.edu	37	2	187605149	187605149	+	Missense_Mutation	SNP	G	G	C	rs139449443		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:187605149G>C	ENST00000304698.5	+	2	636	c.433G>C	c.(433-435)Gtg>Ctg	p.V145L		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	145						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AGATGGCTACGTGTTGACCCC	0.343000													5	12					0	0	0.000602	0	0
NUDT22	84304	broad.mit.edu	37	11	63995073	63995073	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:63995073G>C	ENST00000279206.3	+	3	670	c.514G>C	c.(514-516)Gac>Cac	p.D172H	NUDT22_ENST00000441250.2_Intron	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720.1	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	172	Nudix hydrolase.						hydrolase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						CCAGCACCAGGACCTCGCTGG	0.612000													10	70					0	0	0.001368	0	0
BTBD3	22903	broad.mit.edu	37	20	11903919	11903919	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr20:11903919G>C	ENST00000405977.1	+	5	1799	c.1174G>C	c.(1174-1176)Ggt>Cgt	p.G392R	BTBD3_ENST00000378226.2_Missense_Mutation_p.G392R|BTBD3_ENST00000254977.3_Missense_Mutation_p.G331R|BTBD3_ENST00000399006.2_Missense_Mutation_p.G331R			Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	392										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						GCGCTATCGTGGTCGCTGTGA	0.522000													21	41					0	0	0.008871	0	0
GPR26	2849	broad.mit.edu	37	10	125426162	125426162	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:125426162G>C	ENST00000284674.1	+	1	292	c.239G>C	c.(238-240)cGc>cCc	p.R80P		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	80					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)				CGCCTGTGCCGCCTGGCTGCC	0.701000													7	1					0	0	0.001984	0	0
OR6N1	128372	broad.mit.edu	37	1	158735734	158735734	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:158735734C>G	ENST00000335094.2	-	1	758	c.739G>C	c.(739-741)Gtg>Ctg	p.V247L		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					ATGAGAACCACAGTGAAGTGG	0.532000													62	52					0	0	0.003610	0	0
COL6A3	1293	broad.mit.edu	37	2	238253296	238253296	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:238253296G>T	ENST00000295550.4	-	36	7817	c.7365C>A	c.(7363-7365)acC>acA	p.T2455T	COL6A3_ENST00000472056.1_Silent_p.T1848T|COL6A3_ENST00000353578.4_Silent_p.T2249T|COL6A3_ENST00000346358.4_Silent_p.T2255T|COL6A3_ENST00000347401.3_Silent_p.T2254T|COL6A3_ENST00000409809.1_Silent_p.T2249T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2455	Nonhelical region.|VWFA 11.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGATCTCCGTGGTCACCTCGT	0.547000													26	66					3.28513e-13	4.68663e-13	0.003954	1	0
PADI3	51702	broad.mit.edu	37	1	17603297	17603297	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:17603297G>T	ENST00000375460.3	+	13	1521	c.1481G>T	c.(1480-1482)gGg>gTg	p.G494V		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	494					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GCCAGCCCTGGGGCCTGCTTC	0.627000													3	16					0.00909568	0.0094577	0.009096	1	0
NRCAM	4897	broad.mit.edu	37	7	107818536	107818536	+	Missense_Mutation	SNP	A	A	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:107818536A>C	ENST00000379028.3	-	26	3343	c.2873T>G	c.(2872-2874)tTg>tGg	p.L958W	NRCAM_ENST00000425651.2_Missense_Mutation_p.L958W|NRCAM_ENST00000351718.4_Missense_Mutation_p.L942W|NRCAM_ENST00000413765.2_Missense_Mutation_p.L939W|NRCAM_ENST00000379022.4_Missense_Mutation_p.L958W|NRCAM_ENST00000379024.4_Missense_Mutation_p.L939W			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	958	Fibronectin type-III 4.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CACAATCTTCAAAGACGAGGG	0.438000													28	7					0	0	0.006320	0	0
SPP1	6696	broad.mit.edu	37	4	88898093	88898093	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr4:88898093G>T	ENST00000237623.7	+	2	194	c.46G>T	c.(46-48)Gcc>Tcc	p.A16S	SPP1_ENST00000360804.4_Missense_Mutation_p.A16S|SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000395080.3_Missense_Mutation_p.A16S	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	16					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		CATCACCTGTGCCATACCAGT	0.388000													8	8					0.00307968	0.00324804	0.003080	1	0
CHML	1122	broad.mit.edu	37	1	241797805	241797805	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:241797805T>C	ENST00000366553.1	-	1	1427	c.1264A>G	c.(1264-1266)Ata>Gta	p.I422V	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	422					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			AAGTGATCTATAATTGCTTTA	0.353000													33	8					0	0	0.009535	0	0
CR2	1380	broad.mit.edu	37	1	207651379	207651379	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:207651379C>A	ENST00000367057.3	+	16	3241	c.3052C>A	c.(3052-3054)Cac>Aac	p.H1018N	CR2_ENST00000367058.3_Missense_Mutation_p.H959N|CR2_ENST00000458541.2_Missense_Mutation_p.H932N|CR2_ENST00000367059.3_Missense_Mutation_p.H897N	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	959					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CCAATCGGATCACCAATGGAA	0.522000													6	6					0.00116845	0.00123857	0.001168	1	0
PABPC5	140886	broad.mit.edu	37	X	90690916	90690916	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chrX:90690916G>T	ENST00000312600.3	+	2	554	c.340G>T	c.(340-342)Gac>Tac	p.D114Y	PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	114	RRM 2.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CAAAAACCTGGACAAATCCAT	0.408000													22	36					2.37509e-13	3.41948e-13	0.010504	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28307054	28307054	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr21:28307054C>A	ENST00000284987.5	-	4	1541	c.1420G>T	c.(1420-1422)Gac>Tac	p.D474Y	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	474	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CGTGGTAGGTCCAGCAAACAG	0.507000													27	7					8.58068e-18	1.392e-17	0.007291	1	0
NPHS1	4868	broad.mit.edu	37	19	36322587	36322587	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:36322587C>A	ENST00000378910.5	-	24	3243	c.3244G>T	c.(3244-3246)Ggg>Tgg	p.G1082W	NPHS1_ENST00000353632.6_Intron	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1082					cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGACCCCCCCGACACAGGAG	0.652000													7	10					0.000157383	0.000171915	0.003080	1	0
MYO18B	84700	broad.mit.edu	37	22	26423063	26423063	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr22:26423063C>A	ENST00000335473.7	+	43	7373	c.7123C>A	c.(7123-7125)Ctg>Atg	p.L2375M	MYO18B_ENST00000407587.2_Missense_Mutation_p.L2376M|MYO18B_ENST00000536101.1_Missense_Mutation_p.L2375M	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2375						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAGGGACATGCTGTTGTCGCC	0.567000													61	21					3.79397e-19	6.28486e-19	0.003610	1	0
DDN	23109	broad.mit.edu	37	12	49390743	49390743	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:49390743C>A	ENST00000421952.2	-	2	1937	c.1916G>T	c.(1915-1917)gGc>gTc	p.G639V		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	639	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						ATCAGAGGAGCCGCTATGGAC	0.657000											OREG0021778	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	6					0.000157383	0.000171915	0.003080	1	0
VAMP4	8674	broad.mit.edu	37	1	171679938	171679938	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:171679938C>A	ENST00000236192.7	-	5	567	c.181G>T	c.(181-183)Gat>Tat	p.D61Y	VAMP4_ENST00000367740.2_Missense_Mutation_p.D60Y|VAMP4_ENST00000415773.1_Missense_Mutation_p.D60Y|VAMP4_ENST00000482519.1_5'UTR	NM_001185127.1|NM_003762.4	NP_001172056.1|NP_003753.2	O75379	VAMP4_HUMAN	vesicle-associated membrane protein 4	61	v-SNARE coiled-coil homology.				vesicle-mediated transport	endosome|Golgi membrane|integral to membrane|lysosome				large_intestine(4)	4	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ATAACTTCATCCACTTGATTC	0.303000													16	56					2.31682e-05	2.62211e-05	0.003163	1	0
MUC16	94025	broad.mit.edu	37	19	9088131	9088131	+	Silent	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:9088131T>A	ENST00000397910.4	-	1	3887	c.3684A>T	c.(3682-3684)tcA>tcT	p.S1228S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1228	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGCCTCCAATGATGTGGCTG	0.512000													151	62					0	0	0.003610	0	0
KCNB2	9312	broad.mit.edu	37	8	73849053	73849053	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:73849053C>T	ENST00000523207.1	+	3	2051	c.1463C>T	c.(1462-1464)tCg>tTg	p.S488L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	488					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AATCACCTGTCGCCAAGCCGG	0.527000													20	236					0	0	0.012319	0	0
STRA8	346673	broad.mit.edu	37	7	134939889	134939889	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:134939889C>A	ENST00000275764.3	+	8	830	c.830C>A	c.(829-831)cCa>cAa	p.P277Q		NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN	stimulated by retinoic acid 8	277					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						AGCTGCAACCCAGAAAACCCA	0.443000													49	58					1.32667e-27	2.42868e-27	0.003610	1	0
ERCC5	2073	broad.mit.edu	37	13	103514550	103514550	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr13:103514550G>T	ENST00000355739.4	+	8	2474	c.1051G>T	c.(1051-1053)Gcc>Tcc	p.A351S	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.C776F	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TATGCAAGCTGCCCTGCTGGG	0.512000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				24	41					9.95505e-16	1.54309e-15	0.002299	1	0
FNDC1	84624	broad.mit.edu	37	6	159653822	159653822	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:159653822C>T	ENST00000297267.9	+	11	2478	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W	FNDC1_ENST00000340366.6_Missense_Mutation_p.R697W	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	760	Ser-rich.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGCGCCATCACGGTCCACCAT	0.622000													18	20					0	0	0.008871	0	0
TBC1D4	9882	broad.mit.edu	37	13	75884154	75884154	+	Silent	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr13:75884154C>G	ENST00000377636.3	-	14	2863	c.2517G>C	c.(2515-2517)ctG>ctC	p.L839L	TBC1D4_ENST00000425511.1_Silent_p.L56L|TBC1D4_ENST00000431480.2_Silent_p.L831L|TBC1D4_ENST00000377625.2_Silent_p.L776L	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	839						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		ACAAGCTCCTCAGTTCTTTTG	0.418000													11	30					0	0	0.008291	0	0
BRWD3	254065	broad.mit.edu	37	X	79960239	79960239	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chrX:79960239C>A	ENST00000373275.4	-	23	2875	c.2659G>T	c.(2659-2661)Gat>Tat	p.D887Y	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	887										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTTTCCTCATCAGAGCTGCTG	0.348000													23	6					1.55795e-14	2.33692e-14	0.012319	1	0
SCCPDH	51097	broad.mit.edu	37	1	246890200	246890200	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:246890200C>A	ENST00000366510.3	+	2	573	c.197C>A	c.(196-198)cCa>cAa	p.P66Q		NM_016002.2	NP_057086.2	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	66						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		TTAGGAAGACCAACACTGTCA	0.368000													5	21					0.000602214	0.000644899	0.000602	1	0
ENPEP	2028	broad.mit.edu	37	4	111464189	111464189	+	Missense_Mutation	SNP	C	C	A	rs139405480		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr4:111464189C>A	ENST00000265162.5	+	13	2305	c.1963C>A	c.(1963-1965)Cgt>Agt	p.R655S		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	655					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)	TTCAGCAGATCGTGCAAGTCT	0.333000													27	11					8.53417e-09	1.08648e-08	0.002836	1	0
HDX	139324	broad.mit.edu	37	X	83730299	83730299	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chrX:83730299T>A	ENST00000297977.5	-	2	218	c.107A>T	c.(106-108)cAg>cTg	p.Q36L	HDX_ENST00000506585.2_Intron|HDX_ENST00000373177.2_Missense_Mutation_p.Q36L	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	36						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CTGTGCACACTGTAATATGAG	0.338000													17	30					0	0	0.007413	0	0
PSD4	23550	broad.mit.edu	37	2	113950125	113950125	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:113950125G>T	ENST00000245796.6	+	6	1992	c.1797G>T	c.(1795-1797)gaG>gaT	p.E599D	PSD4_ENST00000441564.2_Missense_Mutation_p.E571D	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	599	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCGCCTGGAGGGCTTCCGGA	0.597000													21	20					4.63292e-17	7.36335e-17	0.008871	1	0
CPB2	1361	broad.mit.edu	37	13	46648091	46648091	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr13:46648091C>A	ENST00000181383.4	-	6	524	c.508G>T	c.(508-510)Gcc>Tcc	p.A170S	CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.A170S	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	170					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		GCATTTTTGGCTGCTTGTTCT	0.383000													12	5					6.40141e-05	7.11016e-05	0.010729	1	0
RNF165	494470	broad.mit.edu	37	18	44030685	44030685	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr18:44030685G>T	ENST00000269439.7	+	6	790	c.739G>T	c.(739-741)Gac>Tac	p.D247Y	RNF165_ENST00000543885.1_Missense_Mutation_p.D55Y	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	247							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		GCAGCTCGAGGACAGGTTGGG	0.522000													23	31					4.59853e-10	6.05095e-10	0.005443	1	0
SP140	11262	broad.mit.edu	37	2	231106193	231106193	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:231106193G>T	ENST00000392045.3	+	4	595	c.481G>T	c.(481-483)Ggt>Tgt	p.G161C	SP140_ENST00000343805.6_Missense_Mutation_p.G161C|SP140_ENST00000350136.5_Missense_Mutation_p.G141C|SP140_ENST00000420434.3_Missense_Mutation_p.G161C|SP140_ENST00000417495.3_Missense_Mutation_p.G161C|SP140_ENST00000486687.2_Missense_Mutation_p.G161C	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	161					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ACTACCATATGGTAAACAAGG	0.363000													11	11					0.000978159	0.00104215	0.010729	1	0
EIF2B2	8892	broad.mit.edu	37	14	75469831	75469831	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr14:75469831C>T	ENST00000266126.5	+	1	218	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	46					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		GCCAGATCATCACGGACCACC	0.667000													8	33					0	0	0.003080	0	0
GANAB	23193	broad.mit.edu	37	11	62400735	62400735	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:62400735C>A	ENST00000346178.4	-	8	720	c.705G>T	c.(703-705)gaG>gaT	p.E235D	GANAB_ENST00000534779.1_Missense_Mutation_p.E121D|GANAB_ENST00000540933.1_Missense_Mutation_p.E116D|GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000356638.3_Missense_Mutation_p.E213D	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	213					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TCCCCTGAGTCTCCTCTGGCT	0.527000													66	68					9.65139e-37	1.84214e-36	0.003610	1	0
GPR158	57512	broad.mit.edu	37	10	25839917	25839917	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:25839917T>C	ENST00000376351.3	+	6	1776	c.1417T>C	c.(1417-1419)Tac>Cac	p.Y473H		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	473						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGTTATTTTGTACTTTGAGCC	0.423000													11	44					0	0	0.010729	0	0
PDLIM7	9260	broad.mit.edu	37	5	176923490	176923490	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:176923490C>T	ENST00000355841.2	-	2	90	c.24G>A	c.(22-24)ctG>ctA	p.L8L	PDLIM7_ENST00000356618.4_Silent_p.L8L|PDLIM7_ENST00000355572.2_Silent_p.L8L|PDLIM7_ENST00000359895.2_Silent_p.L8L|PDLIM7_ENST00000393551.1_Silent_p.L8L|RP11-1334A24.6_ENST00000506025.1_RNA	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	8	PDZ.				cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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)			CTGGCCCCTCCAGCACTACTT	0.642000													5	5					0	0	0.000602	0	0
SLC4A10	57282	broad.mit.edu	37	2	162751263	162751263	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:162751263G>T	ENST00000375514.5	+	11	1499	c.1212G>T	c.(1210-1212)caG>caT	p.Q404H	SLC4A10_ENST00000272716.5_Missense_Mutation_p.Q393H|SLC4A10_ENST00000421911.1_Missense_Mutation_p.Q423H|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000446997.1_Missense_Mutation_p.Q423H|SLC4A10_ENST00000415876.2_Missense_Mutation_p.Q393H|SLC4A10_ENST00000535165.1_Missense_Mutation_p.R394M	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	423					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTCTGGATCAGGTTACTGTTC	0.363000													25	44					1.64293e-13	2.38178e-13	0.003330	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121653039	121653039	+	Silent	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:121653039T>A	ENST00000393386.2	+	12	4350	c.3939T>A	c.(3937-3939)gcT>gcA	p.A1313A	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_3'UTR	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1313					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			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						ATGTATTTGCTACACCTGTTT	0.373000													18	13					0	0	0.007413	0	0
VSTM2A	222008	broad.mit.edu	37	7	54617822	54617822	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:54617822C>T	ENST00000302287.3	+	4	999	c.593C>T	c.(592-594)cCt>cTt	p.P198L	VSTM2A_ENST00000402026.2_Missense_Mutation_p.P197L|VSTM2A_ENST00000407838.3_Missense_Mutation_p.P198L|VSTM2A_ENST00000402613.3_Missense_Mutation_p.P198L|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000404951.1_Missense_Mutation_p.P198L			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	198						extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			ACCTCCAGCCCTCAAGTGGTA	0.522000													13	10					0	0	0.002450	0	0
MYPN	84665	broad.mit.edu	37	10	69881364	69881364	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:69881364C>T	ENST00000358913.5	+	2	657	c.169C>T	c.(169-171)Caa>Taa	p.Q57*	MYPN_ENST00000540630.1_Nonsense_Mutation_p.Q57*|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Nonsense_Mutation_p.Q57*	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	57	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AGGCGGAGGCCAAGATGACCT	0.527000													20	44					0	0	0.010504	0	0
MYH2	4620	broad.mit.edu	37	17	10428089	10428089	+	Silent	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:10428089G>C	ENST00000245503.5	-	34	5340	c.4956C>G	c.(4954-4956)acC>acG	p.T1652T	MYH2_ENST00000397183.2_Silent_p.T1652T|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1652					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						GGATGCCTTGGGTGTTCCTGT	0.502000													50	54					0	0	0.003610	0	0
GRID2	2895	broad.mit.edu	37	4	94436514	94436514	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr4:94436514C>A	ENST00000282020.4	+	13	2403	c.2145C>A	c.(2143-2145)agC>agA	p.S715R	GRID2_ENST00000510992.1_Missense_Mutation_p.S620R	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	715					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)	TCAACCGAAGCAATGGATCGG	0.468000													5	22					3.59834e-05	4.06515e-05	0.001168	1	0
FAM71C	196472	broad.mit.edu	37	12	100042044	100042044	+	Missense_Mutation	SNP	A	A	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:100042044A>C	ENST00000324341.1	+	1	514	c.92A>C	c.(91-93)cAa>cCa	p.Q31P	ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	31										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		CTGCAGCGGCAACTGTACAAA	0.493000													44	57					0	0	0.010771	0	0
UQCRC2	7385	broad.mit.edu	37	16	21968823	21968823	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr16:21968823G>T	ENST00000268379.4	+	3	967	c.203G>T	c.(202-204)gGc>gTc	p.G68V	UQCRC2_ENST00000561553.1_Missense_Mutation_p.G68V	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	68					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		ATTAAAGCAGGCAGTAGATAT	0.383000													28	66					1.7367e-05	1.97804e-05	0.006320	1	0
PHLPP1	23239	broad.mit.edu	37	18	60612425	60612425	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr18:60612425G>A	ENST00000400316.4	+	12	3490	c.1709G>A	c.(1708-1710)tGc>tAc	p.C570Y	PHLPP1_ENST00000262719.5_Missense_Mutation_p.C1082Y	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1082	PH.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						ATCATGAATTGCAGGCGCATG	0.428000													39	14					0	0	0.004289	0	0
MYEF2	50804	broad.mit.edu	37	15	48444431	48444431	+	Splice_Site	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr15:48444431C>A	ENST00000324324.7	-	11	1417	c.1138_splice	c.e11+1	p.G380_splice	MYEF2_ENST00000267836.6_Splice_Site_p.G380_splice	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	380	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TTATACATACCTCCTCCAATT	0.299000													42	43					7.88023e-25	1.40767e-24	0.003610	1	0
LRRTM3	347731	broad.mit.edu	37	10	68686953	68686953	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:68686953C>A	ENST00000361320.4	+	2	857	c.279C>A	c.(277-279)gaC>gaA	p.D93E	CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	93						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TATACCTTGACCATAACCATA	0.378000													39	37					5.71845e-15	8.69204e-15	0.005524	1	0
OR5D18	219438	broad.mit.edu	37	11	55587400	55587400	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:55587400G>T	ENST00000333976.4	+	1	315	c.295G>T	c.(295-297)Gta>Tta	p.V99L		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TTTAGGATGCGTAGTACAATT	0.428000													37	119					1.30998e-17	2.11964e-17	0.005524	1	0
DENND5B	160518	broad.mit.edu	37	12	31577523	31577523	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:31577523G>T	ENST00000389082.5	-	10	2601	c.2337C>A	c.(2335-2337)gcC>gcA	p.A779A	DENND5B_ENST00000536562.1_Silent_p.A814A|DENND5B_ENST00000306833.6_Silent_p.A814A	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	779	RUN 1.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CACAAAGGCTGGCGATCAAGG	0.537000													84	23					7.2426e-40	1.40158e-39	0.003610	1	0
DUSP23	54935	broad.mit.edu	37	1	159752065	159752065	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:159752065C>A	ENST00000368107.1	+	2	488	c.390C>A	c.(388-390)ccC>ccA	p.P130P	DUSP23_ENST00000368108.3_Silent_p.P130P|DUSP23_ENST00000368109.1_Silent_p.P130P			Q9BVJ7	DUS23_HUMAN	dual specificity phosphatase 23	130	Tyrosine-protein phosphatase.					cytosol|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			lung(1)	1	all_hematologic(112;0.0537)					GACTACGACCCGGCTCCATCG	0.582000													18	47					6.94344e-10	9.06043e-10	0.006122	1	0
OR4N2	390429	broad.mit.edu	37	14	20296176	20296176	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr14:20296176C>A	ENST00000315947.1	+	1	569	c.569C>A	c.(568-570)aCc>aAc	p.T190N	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGGCCTGCACCGACACATTT	0.522000													32	44					1.08312e-15	1.6727e-15	0.009535	1	0
ABI3	51225	broad.mit.edu	37	17	47295236	47295236	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:47295236C>A	ENST00000225941.1	+	3	919	c.421C>A	c.(421-423)Ctc>Atc	p.L141I	ABI3_ENST00000419580.2_Missense_Mutation_p.L135I	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512.1	Q9P2A4	ABI3_HUMAN	ABI family, member 3	141					cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CAGGAGACCCCTCAACTTTGG	0.637000										HNSCC(55;0.14)			55	13					1.59911e-31	2.9885e-31	0.003610	1	0
NSD1	64324	broad.mit.edu	37	5	176696757	176696757	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:176696757G>A	ENST00000439151.2	+	16	5503	c.5458G>A	c.(5458-5460)Gtg>Atg	p.V1820M	NSD1_ENST00000361032.4_Missense_Mutation_p.V1717M|NSD1_ENST00000354179.4_Missense_Mutation_p.V1551M|NSD1_ENST00000347982.4_Missense_Mutation_p.V1551M	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1820					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		GGAGGGTGACGTGAGCAGCAA	0.453000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			18	64					0	0	0.007413	0	0
LRP1B	53353	broad.mit.edu	37	2	141625381	141625381	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:141625381G>T	ENST00000389484.3	-	27	5328	c.4357C>A	c.(4357-4359)Ctc>Atc	p.L1453I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1453					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)		CCATCATAGAGGGCTGAATAA	0.388000										TSP Lung(27;0.18)			19	35					1.01871e-10	1.3619e-10	0.008871	1	0
PELO	53918	broad.mit.edu	37	5	52096767	52096767	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:52096767G>T	ENST00000274311.2	+	2	1524	c.539G>T	c.(538-540)cGg>cTg	p.R180L	ITGA1_ENST00000504086.1_Intron|ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	180					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				CAGCATGACCGGGCCTTGGAG	0.542000													51	53					2.6238e-40	5.08538e-40	0.003610	1	0
MYH6	4624	broad.mit.edu	37	14	23871692	23871692	+	Silent	SNP	C	C	A	rs148091079		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr14:23871692C>A	ENST00000405093.3	-	12	1192	c.1122G>T	c.(1120-1122)gcG>gcT	p.A374A	MYH6_ENST00000356287.3_Silent_p.A374A	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	374	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CGTCTGGCTCCGCCTGCTCCT	0.617000													47	45					4.10826e-27	7.48802e-27	0.003610	1	0
KCNQ2	3785	broad.mit.edu	37	20	62076037	62076037	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr20:62076037C>A	ENST00000354587.3	-	4	841	c.665G>T	c.(664-666)gGc>gTc	p.G222V	KCNQ2_ENST00000359125.2_Missense_Mutation_p.G222V|KCNQ2_ENST00000357249.2_Missense_Mutation_p.G222V|KCNQ2_ENST00000344462.3_Missense_Mutation_p.G222V|KCNQ2_ENST00000370221.1_Missense_Mutation_p.G222V|KCNQ2_ENST00000360480.3_Missense_Mutation_p.G222V|KCNQ2_ENST00000430658.1_Missense_Mutation_p.G222V|KCNQ2_ENST00000370226.1_Missense_Mutation_p.G222V|KCNQ2_ENST00000370224.1_Missense_Mutation_p.G222V|KCNQ2_ENST00000344425.5_Missense_Mutation_p.G222V|KCNQ2_ENST00000359689.1_Missense_Mutation_p.G222V|KCNQ2_ENST00000370222.3_Missense_Mutation_p.G222V			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	222					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GACCACAGAGCCCAGCAGCTT	0.687000													9	6					1.12685e-05	1.29759e-05	0.004482	1	0
NUP210	23225	broad.mit.edu	37	3	13420447	13420447	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:13420447T>C	ENST00000254508.5	-	8	1092	c.1010A>G	c.(1009-1011)aAc>aGc	p.N337S		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	337					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GATAGTGCTGTTGGGTAACCT	0.468000													46	22					0	0	0.003610	0	0
LIPC	3990	broad.mit.edu	37	15	58830623	58830623	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr15:58830623G>T	ENST00000414170.3	+	3	467	c.180G>T	c.(178-180)caG>caT	p.Q60H	LIPC_ENST00000433326.2_Missense_Mutation_p.Q60H|LIPC_ENST00000356113.6_Missense_Mutation_p.Q60H|LIPC_ENST00000299022.5_Missense_Mutation_p.Q60H			P11150	LIPC_HUMAN	lipase, hepatic	60					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)		AAACCAATCAGGGCTGTCAGA	0.483000													33	114					5.60225e-13	7.9651e-13	0.009535	1	0
GRM7	2917	broad.mit.edu	37	3	7494431	7494431	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:7494431C>T	ENST00000486284.1	+	6	1586	c.1312C>T	c.(1312-1314)Cca>Tca	p.P438S	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Missense_Mutation_p.P438S|GRM7_ENST00000389336.4_Missense_Mutation_p.P438S|GRM7_ENST00000403881.1_Missense_Mutation_p.P438S|GRM7_ENST00000357716.4_Missense_Mutation_p.P438S	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	438					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GGGTGTCTGCCCAGAGATGGA	0.473000													16	7					0	0	0.007413	0	0
CLCA2	9635	broad.mit.edu	37	1	86900349	86900349	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:86900349C>T	ENST00000370565.4	+	6	1055	c.893C>T	c.(892-894)cCt>cTt	p.P298L		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	298					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GAGCTTCCACCTCCTCCCACA	0.488000													31	48					0	0	0.003271	0	0
SEMA4A	64218	broad.mit.edu	37	1	156146585	156146585	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:156146585C>T	ENST00000368285.3	+	15	2350	c.2083C>T	c.(2083-2085)Ctt>Ttt	p.L695F	SEMA4A_ENST00000355014.2_Missense_Mutation_p.L695F|SEMA4A_ENST00000368284.1_Missense_Mutation_p.L563F|SEMA4A_ENST00000368286.2_Missense_Mutation_p.L563F|SEMA4A_ENST00000368282.1_Missense_Mutation_p.L695F	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	695					axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TGCCTTAGTGCTTTCAGGAGC	0.637000													19	60					0	0	0.002780	0	0
MCTP1	79772	broad.mit.edu	37	5	94353140	94353140	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:94353140C>T	ENST00000515393.1	-	2	768	c.769G>A	c.(769-771)Gat>Aat	p.D257N	MCTP1_ENST00000429576.2_Missense_Mutation_p.D36N|MCTP1_ENST00000312216.8_Missense_Mutation_p.D36N|MCTP1_ENST00000505208.1_Missense_Mutation_p.D36N	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	257	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		ATTCCGGGATCAGCCAAGGGG	0.378000													30	14					0	0	0.002836	0	0
USH2A	7399	broad.mit.edu	37	1	216172274	216172274	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:216172274C>A	ENST00000366943.2	-	34	6998	c.6612G>T	c.(6610-6612)atG>atT	p.M2204I	USH2A_ENST00000307340.3_Missense_Mutation_p.M2204I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2204	Fibronectin type-III 8.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			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)		CGTATTGTAGCATATGATCCT	0.368000										HNSCC(13;0.011)			11	22					2.80697e-09	3.61762e-09	0.010729	1	0
C2orf73	129852	broad.mit.edu	37	2	54587621	54587621	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:54587621C>T	ENST00000398634.2	+	5	828	c.786C>T	c.(784-786)ggC>ggT	p.G262G	C2orf73_ENST00000491538.1_Intron|C2orf73_ENST00000405749.1_Intron	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	262										breast(2)	2						AGACCTCAGGCGCCACTCAAA	0.433000													4	8					0	0	0.000602	0	0
STEAP1	26872	broad.mit.edu	37	7	89790487	89790487	+	Silent	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:89790487A>G	ENST00000297205.2	+	3	653	c.453A>G	c.(451-453)ccA>ccG	p.P151P	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	151	Ferric oxidoreductase.				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					AGAAGTTTCCACATTGGTTGG	0.403000													18	55					0	0	0.007413	0	0
HHIPL2	79802	broad.mit.edu	37	1	222712052	222712052	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:222712052G>A	ENST00000343410.6	-	5	1573	c.1515C>T	c.(1513-1515)gtC>gtT	p.V505V		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	505					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		AACCACGATAGACATAACCTC	0.468000													16	13					0	0	0.004007	0	0
FAM47C	442444	broad.mit.edu	37	X	37028078	37028078	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chrX:37028078C>A	ENST00000358047.3	+	1	1647	c.1595C>A	c.(1594-1596)tCc>tAc	p.S532Y		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	532										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ATTCTGGTGTCCAGTCTCCAC	0.612000													151	27					3.64178e-58	7.21453e-58	0.003610	1	0
TTLL1	25809	broad.mit.edu	37	22	43460212	43460212	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr22:43460212G>T	ENST00000331018.7	-	6	862	c.622C>A	c.(622-624)Cca>Aca	p.P208T	TTLL1_ENST00000266254.7_Missense_Mutation_p.P208T			O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	208	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		CAGCGCAGTGGACGGTACGTG	0.468000													19	8					7.45023e-12	1.03005e-11	0.010504	1	0
NAV3	89795	broad.mit.edu	37	12	78510664	78510664	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:78510664C>A	ENST00000397909.2	+	13	2922	c.2749C>A	c.(2749-2751)Ccc>Acc	p.P917T	NAV3_ENST00000228327.6_Missense_Mutation_p.P917T|NAV3_ENST00000266692.7_Missense_Mutation_p.P917T|NAV3_ENST00000536525.2_Missense_Mutation_p.P917T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	917						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						CATCACCGTCCCCTCTAGGAA	0.433000										HNSCC(70;0.22)			45	54					3.2641e-12	4.56319e-12	0.013114	1	0
GMPS	8833	broad.mit.edu	37	3	155615827	155615827	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:155615827G>T	ENST00000496455.1	+	3	656	c.321G>T	c.(319-321)atG>atT	p.M107I	GMPS_ENST00000295920.7_Intron|GMPS_ENST00000476145.1_3'UTR	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	107	Glutamine amidotransferase type-1.				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCTATGGTATGCAGGTATGTC	0.358000			T	MLL	AML								48	133					5.2432e-18	8.55003e-18	0.003610	1	0
MTNR1B	4544	broad.mit.edu	37	11	92715432	92715432	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:92715432C>A	ENST00000257068.2	+	2	1049	c.1043C>A	c.(1042-1044)cCa>cAa	p.P348Q		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	348					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CTGCAGAGCCCAGCTCCACCC	0.572000													22	70					1.64113e-05	1.87089e-05	0.010504	1	0
RBMS1	5937	broad.mit.edu	37	2	161174686	161174686	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:161174686A>G	ENST00000348849.3	-	3	734	c.304T>C	c.(304-306)Tgc>Cgc	p.C102R	RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000392753.3_Missense_Mutation_p.C102R|RBMS1_ENST00000409075.1_Missense_Mutation_p.C69R|RBMS1_ENST00000409972.1_Missense_Mutation_p.C69R|RBMS1_ENST00000409289.2_Missense_Mutation_p.C69R	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	102	RRM 1.				DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								ATACCTTTGCATTTGTTCGTT	0.284000													6	21					0	0	0.001168	0	0
PHLDB2	90102	broad.mit.edu	37	3	111681104	111681104	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:111681104A>T	ENST00000431670.2	+	13	3433	c.3022A>T	c.(3022-3024)Agc>Tgc	p.S1008C	PHLDB2_ENST00000393925.3_Missense_Mutation_p.S1008C|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S992C|PHLDB2_ENST00000412622.1_Missense_Mutation_p.S965C|PHLDB2_ENST00000495180.1_Missense_Mutation_p.S499C|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S965C|PHLDB2_ENST00000470699.2_3'UTR	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1008						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GAGCCTCGATAGCTCTGATAG	0.428000													68	44					0	0	0.003610	0	0
FRMPD2	143162	broad.mit.edu	37	10	49400802	49400802	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:49400802C>T	ENST00000374201.3	-	16	2392	c.2090G>A	c.(2089-2091)gGc>gAc	p.G697D	FRMPD2_ENST00000305531.3_Missense_Mutation_p.G672D|FRMPD2_ENST00000407470.4_Missense_Mutation_p.G665D	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	697					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		ACTCAGCAGGCCTCCTGCAGC	0.537000													12	38					0	0	0.010729	0	0
RYR3	6263	broad.mit.edu	37	15	33895564	33895564	+	Splice_Site	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr15:33895564A>G	ENST00000389232.4	+	18	2233	c.2164_splice	c.e18+1	p.S721_splice	RYR3_ENST00000415757.3_Splice_Site_p.S721_splice	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	721	B30.2/SPRY 1.				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)		ACCTTTGGTCAGGTGAGTACC	0.468000													106	90					0	0	0.003610	0	0
TFAP2D	83741	broad.mit.edu	37	6	50683290	50683290	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:50683290C>A	ENST00000008391.3	+	2	729	c.501C>A	c.(499-501)agC>agA	p.S167R		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	167				S -> N (in Ref. 1; AAK16926).			DNA binding|sequence-specific DNA binding transcription factor activity	p.S167S(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CAGGGCCCAGCCTGGGGCTGG	0.632000													51	62					1.56989e-16	2.47629e-16	0.003610	1	0
HSPA12B	116835	broad.mit.edu	37	20	3729935	3729935	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr20:3729935G>T	ENST00000254963.2	+	9	1052	c.907G>T	c.(907-909)Gta>Tta	p.V303L	HSPA12B_ENST00000542646.1_Missense_Mutation_p.V137L	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	303							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						GGAGTCAGGCGTAGGAGAGCT	0.627000													5	20					1.23904e-05	1.42025e-05	0.000602	1	0
PCDHA4	56144	broad.mit.edu	37	5	140188221	140188221	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:140188221C>A	ENST00000530339.1	+	1	1449	c.1449C>A	c.(1447-1449)gaC>gaA	p.D483E	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.D483E|PCDHA4_ENST00000512229.2_Missense_Mutation_p.D483E|PCDHA3_ENST00000522353.2_Intron	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)			GGGACGCGGACGCGCAGGAGA	0.657000													37	16					1.59361e-14	2.38756e-14	0.006999	1	0
ZNF724P	440519	broad.mit.edu	37	19	23405738	23405738	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:23405738G>C	ENST00000418100.1	-	4	1426	c.1309C>G	c.(1309-1311)Ctt>Gtt	p.L437V																	endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						TGTGTAGTAAGTTGTGAGAAC	0.388000													12	34					0	0	0.010729	0	0
CHD6	84181	broad.mit.edu	37	20	40076594	40076594	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr20:40076594C>A	ENST00000373233.3	-	24	3878	c.3701G>T	c.(3700-3702)cGg>cTg	p.R1234L	CHD6_ENST00000309279.7_Missense_Mutation_p.R717L	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1234					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTACAGCATCCGGACTCGCAA	0.403000													42	33					3.43241e-23	6.01152e-23	0.009718	1	0
TNN	63923	broad.mit.edu	37	1	175067700	175067700	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:175067700G>A	ENST00000239462.4	+	9	2201	c.2088G>A	c.(2086-2088)gaG>gaA	p.E696E		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	696	Fibronectin type-III 5.				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)		GGGACCAGGAGAGCAAGAAGG	0.582000													13	74					0	0	0.002450	0	0
GLRA1	2741	broad.mit.edu	37	5	151266284	151266284	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:151266284T>C	ENST00000274576.4	-	3	542	c.250A>G	c.(250-252)Atg>Gtg	p.M84V	GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000545569.1_Start_Codon_SNP_p.M1V|GLRA1_ENST00000455880.2_Missense_Mutation_p.M84V	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	84					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTACTCACCATGGTTGTCTCA	0.463000													40	15					0	0	0.008740	0	0
AIM1L	55057	broad.mit.edu	37	1	26664907	26664907	+	Missense_Mutation	SNP	A	A	T	rs151324745	byFrequency	TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:26664907A>T	ENST00000527815.1	-	6	833	c.784T>A	c.(784-786)Tac>Aac	p.Y262N	AIM1L_ENST00000308182.5_Missense_Mutation_p.Y91N|AIM1L_ENST00000522993.1_5'UTR	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	91	Beta/gamma crystallin 'Greek key' 6.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		GAGGTGGGGTACTCTCCAGGT	0.587000													22	56					0	0	0.002780	0	0
POM121L12	285877	broad.mit.edu	37	7	53103601	53103601	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:53103601G>T	ENST00000408890.4	+	1	253	c.237G>T	c.(235-237)gaG>gaT	p.E79D		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	79										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ACCTCATCGAGGTGCGGCCCA	0.711000													11	38					3.86212e-05	4.32419e-05	0.008291	1	0
ZNF662	389114	broad.mit.edu	37	3	42950387	42950387	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:42950387G>C	ENST00000541208.1	+	3	506	c.137G>C	c.(136-138)aGg>aCg	p.R46T	ZNF662_ENST00000422021.1_Missense_Mutation_p.R46T|ZNF662_ENST00000440367.2_Missense_Mutation_p.R46T|ZNF662_ENST00000328199.6_Missense_Mutation_p.R106T|KRBOX1_ENST00000426937.1_5'UTR|ZNF662_ENST00000430067.2_3'UTR			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GAGGCCCCAAGGGGCATCTCC	0.517000													11	25					0	0	0.010729	0	0
PROX2	283571	broad.mit.edu	37	14	75321869	75321869	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr14:75321869G>C	ENST00000556084.2	-	3	1063	c.1064C>G	c.(1063-1065)cCa>cGa	p.P355R	RP11-316E14.6_ENST00000553381.1_RNA|PROX2_ENST00000556489.2_Missense_Mutation_p.P582R|PROX2_ENST00000445876.1_Missense_Mutation_p.P582R	NM_001080408.2	NP_001073877.2	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	582					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GAATATCTCTGGGATGTCACT	0.463000													3	9					0	0	0.004672	0	0
IDE	3416	broad.mit.edu	37	10	94230104	94230104	+	Splice_Site	SNP	T	T	A	rs139681738		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:94230104T>A	ENST00000265986.6	-	18	2173		c.e18-2		IDE_ENST00000496903.1_Splice_Site|IDE_ENST00000371581.5_Splice_Site	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme						beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGGTTACATCTGCAAAGGTGT	0.448000													27	80					0	0	0.004656	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883478	19883478	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr16:19883478C>A	ENST00000300571.2	-	2	881	c.690G>T	c.(688-690)aaG>aaT	p.K230N	GPRC5B_ENST00000569479.1_Missense_Mutation_p.K230N|GPRC5B_ENST00000537135.1_Missense_Mutation_p.K256N|GPRC5B_ENST00000535671.1_Missense_Mutation_p.K230N|GPRC5B_ENST00000569847.1_Missense_Mutation_p.K230N	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	230										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CCCCGTTCAGCTTCCACCTCT	0.572000													31	34					9.65021e-13	1.36893e-12	0.010818	1	0
USP13	8975	broad.mit.edu	37	3	179460012	179460012	+	Missense_Mutation	SNP	A	A	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:179460012A>C	ENST00000263966.3	+	12	1879	c.1408A>C	c.(1408-1410)Agc>Cgc	p.S470R	USP13_ENST00000496897.1_Missense_Mutation_p.S405R|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	470					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			AGAAAACCCAAGCGATGTTTT	0.448000													8	21					0	0	0.008291	0	0
KLHL36	79786	broad.mit.edu	37	16	84695417	84695417	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr16:84695417G>T	ENST00000564996.1	+	5	1670	c.1529G>T	c.(1528-1530)cGc>cTc	p.R510L	KLHL36_ENST00000258157.5_Missense_Mutation_p.R447L	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	510										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TCCATGGAGCGCTTCGACGTG	0.682000													15	6					1.49906e-05	1.71204e-05	0.002450	1	0
CDH7	1005	broad.mit.edu	37	18	63525089	63525089	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr18:63525089T>A	ENST00000536984.2	+	8	1967	c.1273T>A	c.(1273-1275)Ttc>Atc	p.F425I	CDH7_ENST00000323011.3_Missense_Mutation_p.F425I|CDH7_ENST00000397968.2_Missense_Mutation_p.F425I			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	425	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GGAGAGATACTTCAATATTGA	0.388000													12	23					0	0	0.001368	0	0
SERPINA3	12	broad.mit.edu	37	14	95080781	95080781	+	Missense_Mutation	SNP	G	G	T	rs140910224		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr14:95080781G>T	ENST00000553947.1	+	5	966	c.78G>T	c.(76-78)atG>atT	p.M26I	SERPINA3_ENST00000393080.4_Start_Codon_SNP_p.M1I|SERPINA3_ENST00000393078.3_Start_Codon_SNP_p.M1I|SERPINA3_ENST00000467132.1_Start_Codon_SNP_p.M1I|SERPINA3_ENST00000556388.1_Intron			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	1					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AGTTGAGAATGGAGAGAATGT	0.592000													12	42					7.03913e-09	8.97972e-09	0.001368	1	0
PADI1	29943	broad.mit.edu	37	1	17552534	17552534	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:17552534A>G	ENST00000375471.4	+	6	625	c.533A>G	c.(532-534)cAg>cGg	p.Q178R		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	178					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	CCAGACCTGCAGGACATGTCC	0.562000													33	82					0	0	0.009535	0	0
FRMPD4	9758	broad.mit.edu	37	X	12722507	12722507	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chrX:12722507C>G	ENST00000380682.1	+	11	1606	c.1100C>G	c.(1099-1101)cCc>cGc	p.P367R		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	367	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						ACTTTTCTTCCCTCTGCTGTG	0.373000													16	16					0	0	0.003163	0	0
DCHS1	8642	broad.mit.edu	37	11	6661763	6661763	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:6661763G>T	ENST00000299441.3	-	2	1493	c.1082C>A	c.(1081-1083)tCc>tAc	p.S361Y		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	361	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACAGTCATGGAGGGCTGATT	0.582000													16	41					3.57192e-18	5.85515e-18	0.006122	1	0
TEKT4	150483	broad.mit.edu	37	2	95539816	95539816	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:95539816G>T	ENST00000295201.4	+	3	813	c.676G>T	c.(676-678)Gtg>Ttg	p.V226L	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	226					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GAGCACCGAGGTGCAGGCTCA	0.652000													19	57					1.00905e-13	1.47476e-13	0.008871	1	0
RGS7BP	401190	broad.mit.edu	37	5	63905072	63905072	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:63905072C>A	ENST00000334025.2	+	6	1093	c.767C>A	c.(766-768)tCa>tAa	p.S256*		NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	256					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		TGTCTCATCTCAAGCTAGGTG	0.478000													20	4					2.37509e-13	3.41948e-13	0.010504	1	0
TSHZ3	57616	broad.mit.edu	37	19	31767539	31767539	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:31767539G>T	ENST00000240587.4	-	2	3487	c.3160C>A	c.(3160-3162)Cac>Aac	p.H1054N		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1054					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTAACAGCGTGCTTGCTGGCA	0.478000													22	32					7.45023e-12	1.03005e-11	0.010504	1	0
PLD1	5337	broad.mit.edu	37	3	171431773	171431773	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:171431773A>T	ENST00000356327.5	-	9	891	c.821T>A	c.(820-822)tTc>tAc	p.F274Y	PLD1_ENST00000342215.6_Missense_Mutation_p.F274Y|PLD1_ENST00000340989.4_Missense_Mutation_p.F274Y|PLD1_ENST00000351298.4_Missense_Mutation_p.F274Y	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	274	PH.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CAGCAGGACGAAGGCAATGGC	0.358000													29	28					0	0	0.008361	0	0
BICC1	80114	broad.mit.edu	37	10	60272971	60272971	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:60272971G>T	ENST00000373886.3	+	1	72	c.68G>T	c.(67-69)aGc>aTc	p.S23I		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	23					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						AGCGAGCGCAGCACCGACTCC	0.751000													7	3					0.00198382	0.00209579	0.001984	1	0
SPTBN1	6711	broad.mit.edu	37	2	54852007	54852007	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:54852007C>T	ENST00000333896.5	+	10	1595	c.1210C>T	c.(1210-1212)Cag>Tag	p.Q404*	SPTBN1_ENST00000356805.4_Nonsense_Mutation_p.Q417*	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	417					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GCTCATAAGACAGGAGAAACT	0.493000													18	20					0	0	0.004990	0	0
MSH4	4438	broad.mit.edu	37	1	76262883	76262883	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:76262883C>T	ENST00000263187.3	+	1	317	c.213C>T	c.(211-213)ccC>ccT	p.P71P		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	71					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GCAGCCTTCCCTGCCCCGCGC	0.667000								Mismatch excision repair (MMR)					5	8					0	0	0.001168	0	0
CYYR1	116159	broad.mit.edu	37	21	27945254	27945254	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr21:27945254G>A	ENST00000299340.4	-	1	349	c.6C>T	c.(4-6)gaC>gaT	p.D2D	CYYR1_ENST00000400043.3_Silent_p.D2D|CYYR1_ENST00000435845.2_Silent_p.D110D	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	2						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GCCTCGGAGCGTCCATCCAAG	0.647000													25	22					0	0	0.004656	0	0
FZD10	11211	broad.mit.edu	37	12	130647701	130647701	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:130647701G>C	ENST00000539839.1	+	1	698	c.116G>C	c.(115-117)cGc>cCc	p.R39P	FZD10_ENST00000229030.4_Missense_Mutation_p.A72P	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0	FZ.				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GCACGAGTTCGCGCCGCTGGT	0.637000													35	29					0	0	0.003755	0	0
MGA	23269	broad.mit.edu	37	15	42058484	42058484	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr15:42058484A>G	ENST00000219905.7	+	24	8385	c.8204A>G	c.(8203-8205)aAt>aGt	p.N2735S	MGA_ENST00000545763.1_Missense_Mutation_p.N2526S|MGA_ENST00000566586.1_Missense_Mutation_p.N2526S|MGA_ENST00000570161.1_Missense_Mutation_p.N2735S|MGA_ENST00000389936.4_Missense_Mutation_p.N2696S	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2696						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GACGTTTCCAATATGCAGAAA	0.418000													4	27					0	0	0.009096	0	0
SEZ6	124925	broad.mit.edu	37	17	27308831	27308831	+	Silent	SNP	G	G	A	rs1976197		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:27308831G>A	ENST00000317338.12	-	2	710	c.282C>T	c.(280-282)ttC>ttT	p.F94F	SEZ6_ENST00000360295.9_Silent_p.F94F|SEZ6_ENST00000335960.6_Silent_p.F94F|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000442608.3_Silent_p.F94F			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	94	Pro-rich.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GGTCAGGCTGGAAGGGCAGTG	0.632000													19	31					0	0	0.008871	0	0
GHR	2690	broad.mit.edu	37	5	42629194	42629194	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:42629194G>T	ENST00000230882.4	+	3	315	c.125G>T	c.(124-126)gGc>gTc	p.G42V	GHR_ENST00000357703.3_Intron|GHR_ENST00000537449.1_5'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	42					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GTTAATCCAGGCCTAAAGACA	0.378000													48	2					6.03219e-31	1.12398e-30	0.003610	1	0
BEND6	221336	broad.mit.edu	37	6	56846713	56846713	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:56846713C>A	ENST00000370748.3	+	2	540	c.105C>A	c.(103-105)gaC>gaA	p.D35E	BEND6_ENST00000370746.3_Missense_Mutation_p.D35E|BEND6_ENST00000370745.1_Missense_Mutation_p.D35E|BEND6_ENST00000370750.2_Missense_Mutation_p.D35E			Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	35										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						CAAATAGTGACATGGATAAAG	0.338000													19	21					4.35082e-09	5.58436e-09	0.010504	1	0
ARID4A	5926	broad.mit.edu	37	14	58772772	58772772	+	Silent	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr14:58772772T>C	ENST00000355431.3	+	5	589	c.216T>C	c.(214-216)gaT>gaC	p.D72D	ARID4A_ENST00000395168.3_Silent_p.D72D|ARID4A_ENST00000348476.3_Silent_p.D72D|ARID4A_ENST00000431317.2_Silent_p.D72D	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	72					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGACATCTGATGGATCTTTTC	0.348000													6	52					0	0	0.001168	0	0
APBB1	322	broad.mit.edu	37	11	6422868	6422868	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:6422868T>C	ENST00000389906.2	-	9	1538	c.1439A>G	c.(1438-1440)cAc>cGc	p.H480R	APBB1_ENST00000533407.1_Missense_Mutation_p.H219R|APBB1_ENST00000530885.1_Missense_Mutation_p.H258R|APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000311051.3_Missense_Mutation_p.H478R|APBB1_ENST00000299402.6_Missense_Mutation_p.H478R	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	480	PID 1.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GCGAAACACGTGGCACTTGAG	0.587000													16	25					0	0	0.004990	0	0
CCDC102B	79839	broad.mit.edu	37	18	66506000	66506000	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr18:66506000G>T	ENST00000360242.5	+	3	781	c.664G>T	c.(664-666)Gat>Tat	p.D222Y	CCDC102B_ENST00000319445.6_Missense_Mutation_p.D222Y|CCDC102B_ENST00000358653.5_Missense_Mutation_p.D222Y|CCDC102B_ENST00000584156.1_Missense_Mutation_p.D222Y|CCDC102B_ENST00000577772.1_3'UTR	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	222										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GCCCAATCTAGATGGTGTTGA	0.373000													6	8					5.9392e-07	7.22382e-07	0.001168	1	0
AK7	122481	broad.mit.edu	37	14	96875234	96875234	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr14:96875234C>T	ENST00000267584.4	+	4	498	c.454C>T	c.(454-456)Ctg>Ttg	p.L152L	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	152					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		ATTTATTTTACTGTCGACGGT	0.468000													16	23					0	0	0.004990	0	0
OXCT2	64064	broad.mit.edu	37	1	40236278	40236278	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:40236278C>A	ENST00000327582.5	-	1	742	c.650G>T	c.(649-651)cGg>cTg	p.R217L	BMP8B_ENST00000397360.2_Intron|BMP8B_ENST00000372827.3_Intron	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2	217					ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	GTTTCCTGCCCGGTCGGCCTT	0.622000											OREG0013400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	13					2.52991e-16	3.98556e-16	0.003610	1	0
KRT72	140807	broad.mit.edu	37	12	52984737	52984737	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:52984737C>A	ENST00000293745.2	-	6	1057	c.972G>T	c.(970-972)gaG>gaT	p.E324D	KRT72_ENST00000537672.2_Missense_Mutation_p.E324D|KRT72_ENST00000354310.4_Intron|KRT72_ENST00000398066.3_Missense_Mutation_p.E136D	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	324	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TGACCTGCAGCTCCTGGATCT	0.542000													31	42					4.3181e-19	7.13425e-19	0.002836	1	0
ANKK1	255239	broad.mit.edu	37	11	113269850	113269850	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:113269850G>T	ENST00000303941.3	+	8	1253	c.1159G>T	c.(1159-1161)Gac>Tac	p.D387Y		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	387							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)		CCACGAGGTAGACGTGGACTG	0.617000													3	8					0.004672	0.00489857	0.004672	1	0
CABP1	9478	broad.mit.edu	37	12	121098927	121098927	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:121098927G>A	ENST00000453000.1	+	5	1313	c.801G>A	c.(799-801)atG>atA	p.M267I	CABP1_ENST00000351200.2_Missense_Mutation_p.M128I|CABP1_ENST00000288616.3_Missense_Mutation_p.M188I|CABP1_ENST00000316803.3_Missense_Mutation_p.M331I			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	331	EF-hand 2.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GAGAGGCTATGAGGAAGCTCC	0.532000													56	49					0	0	0.003610	0	0
VCAM1	7412	broad.mit.edu	37	1	101186080	101186080	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:101186080A>T	ENST00000294728.2	+	2	214	c.113A>T	c.(112-114)cAg>cTg	p.Q38L	VCAM1_ENST00000370115.1_Missense_Mutation_p.Q38L|VCAM1_ENST00000347652.2_Missense_Mutation_p.Q38L|VCAM1_ENST00000370119.4_Missense_Mutation_p.Q38L	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	38	Ig-like C2-type 1.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TATCTTGCTCAGATTGGTGAC	0.433000													29	13					0	0	0.010818	0	0
MTERF	7978	broad.mit.edu	37	7	91504069	91504069	+	Translation_Start_Site	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:91504069T>A	ENST00000419292.1	-	0	55				MTERF_ENST00000406735.2_De_novo_Start_OutOfFrame|CTB-104F4.2_ENST00000454222.1_RNA|MTERF_ENST00000351870.3_Missense_Mutation_p.K13N			Q99551	MTERF_HUMAN	mitochondrial transcription termination factor						DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			AGTTCAAACCTTTTGAAATGC	0.343000													7	14					0	0	0.003080	0	0
POU3F3	5455	broad.mit.edu	37	2	105472187	105472187	+	Silent	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:105472187C>G	ENST00000361360.2	+	1	219	c.219C>G	c.(217-219)gtC>gtG	p.V73V	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	73	Gly-rich.				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						TCAAGATGGTCCAGAGCGACT	0.761000													4	18					0	0	0.009096	0	0
FAM24A	118670	broad.mit.edu	37	10	124672368	124672368	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:124672368C>A	ENST00000368894.1	+	3	337	c.216C>A	c.(214-216)acC>acA	p.T72T		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	72						extracellular region				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		AAGCCACCACCATGGAGTCTT	0.502000													20	46					1.33834e-09	1.73734e-09	0.007413	1	0
OR2T34	127068	broad.mit.edu	37	1	248737347	248737347	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:248737347C>A	ENST00000328782.2	-	1	733	c.712G>T	c.(712-714)Ggc>Tgc	p.G238C		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G238S(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCCTGCGGCCGGCGGCAGAA	0.562000													108	69					3.10586e-51	6.12381e-51	0.003610	1	0
CCDC11	220136	broad.mit.edu	37	18	47788483	47788483	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr18:47788483C>A	ENST00000398545.4	-	2	293	c.176G>T	c.(175-177)cGg>cTg	p.R59L		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	59										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		CAAGCGATCCCGCTCACTTGA	0.478000													20	29					8.28177e-16	1.28691e-15	0.007413	1	0
GP5	2814	broad.mit.edu	37	3	194118183	194118183	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:194118183G>T	ENST00000401815.1	-	1	900	c.829C>A	c.(829-831)Ccg>Acg	p.P277T	GP5_ENST00000323007.3_Missense_Mutation_p.P277T			P40197	GPV_HUMAN	glycoprotein V (platelet)	277					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		TCTGCCAGCGGGTTCTCGAAC	0.617000													21	23					8.10497e-08	1.0063e-07	0.010504	1	0
CFAP54	144535	broad.mit.edu	37	12	97147590	97147590	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:97147590T>A	ENST00000524981.3	+	23	3107	c.3107T>A	c.(3106-3108)cTt>cAt	p.L1036H				Q6ZTY8	CL063_HUMAN		1010										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TTACCTGCTCTTCATCTGTTT	0.433000													37	61					0	0	0.003755	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151055096	151055096	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:151055096G>T	ENST00000367328.1	+	3	591	c.279G>T	c.(277-279)gtG>gtT	p.V93V	PLEKHG1_ENST00000358517.2_Silent_p.V93V	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	93					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AGTGGAGAGTGGACTCAAACG	0.602000													25	8					7.88262e-20	1.31447e-19	0.003330	1	0
AVPR1A	552	broad.mit.edu	37	12	63543938	63543938	+	Missense_Mutation	SNP	C	C	A	rs112945642		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:63543938C>A	ENST00000299178.2	-	1	784	c.679G>T	c.(679-681)Gcg>Tcg	p.A227S		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	227					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	ACCACGGGCGCCACAAAGATG	0.622000													51	75					4.00472e-15	6.09456e-15	0.003610	1	0
CCDC54	84692	broad.mit.edu	37	3	107096481	107096481	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:107096481T>A	ENST00000261058.1	+	1	294	c.47T>A	c.(46-48)aTg>aAg	p.M16K		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	16										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GCTAGGCAGATGTGGACTTCA	0.418000													59	51					0	0	0.003610	0	0
TBX19	9095	broad.mit.edu	37	1	168282075	168282075	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:168282075G>T	ENST00000367821.3	+	8	1233	c.1182G>T	c.(1180-1182)gtG>gtT	p.V394V	TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	394					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					CCCCTTCTGTGCTCTCCACCC	0.647000													13	60					5.50884e-06	6.39637e-06	0.001368	1	0
SNHG14	104472715	broad.mit.edu	37	15	25474020	25474020	+	RNA	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr15:25474020G>C	ENST00000453082.2	+	0	1332					NR_003343.1																						CTGAAACTCTGACCCTTCCTG	0.592000													32	27					0	0	0.008361	0	0
FHOD3	80206	broad.mit.edu	37	18	34298168	34298168	+	Silent	SNP	G	G	T	rs73949877	byFrequency	TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr18:34298168G>T	ENST00000257209.4	+	16	2504	c.2382G>T	c.(2380-2382)ccG>ccT	p.P794P	FHOD3_ENST00000590592.1_Silent_p.P969P|FHOD3_ENST00000359247.4_Silent_p.P777P|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000445677.1_Silent_p.P756P	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	777					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AAACAGCGCCGGTGCAGCCGA	0.537000													43	97					6.33695e-27	1.15334e-26	0.007835	1	0
ZFHX4	79776	broad.mit.edu	37	8	77767432	77767432	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:77767432A>G	ENST00000521891.2	+	10	8723	c.8275A>G	c.(8275-8277)Aca>Gca	p.T2759A	ZFHX4_ENST00000050961.6_Missense_Mutation_p.T2714A|ZFHX4_ENST00000455469.2_Missense_Mutation_p.T2714A|ZFHX4_ENST00000518282.1_Missense_Mutation_p.T2733A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2714						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)			TGTTAGTAAAACAGCAGAGCT	0.388000										HNSCC(33;0.089)			22	64					0	0	0.002299	0	0
FOLH1	2346	broad.mit.edu	37	11	49178291	49178291	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:49178291C>A	ENST00000340334.7	-	16	1924	c.1556G>T	c.(1555-1557)aGa>aTa	p.R519I	FOLH1_ENST00000256999.2_Missense_Mutation_p.R534I|FOLH1_ENST00000533034.1_Missense_Mutation_p.R519I|FOLH1_ENST00000343844.4_Missense_Mutation_p.R226I|FOLH1_ENST00000356696.3_Missense_Mutation_p.R534I	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	534	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	ATACCGTGCTCTGCCTGAAGC	0.308000													45	42					4.09171e-25	7.31955e-25	0.003610	1	0
ASTN1	460	broad.mit.edu	37	1	176905413	176905413	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:176905413G>C	ENST00000367654.2	-	15	2508	c.2495C>G	c.(2494-2496)gCc>gGc	p.A832G	ASTN1_ENST00000424564.2_Missense_Mutation_p.A824G|ASTN1_ENST00000361833.2_Missense_Mutation_p.A824G|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.A824G			O14525	ASTN1_HUMAN	astrotactin 1	832					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTGAGAGATGGCCACTTGGTT	0.542000													11	50					0	0	0.010729	0	0
MYBPC1	4604	broad.mit.edu	37	12	102057219	102057219	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:102057219C>A	ENST00000549145.1	+	21	2301	c.2201C>A	c.(2200-2202)cCt>cAt	p.P734H	MYBPC1_ENST00000547405.1_Missense_Mutation_p.P695H|MYBPC1_ENST00000545503.2_Missense_Mutation_p.P721H|MYBPC1_ENST00000541119.1_Missense_Mutation_p.P709H|MYBPC1_ENST00000441232.1_Missense_Mutation_p.P721H|MYBPC1_ENST00000553190.1_Missense_Mutation_p.P721H|MYBPC1_ENST00000452455.2_Missense_Mutation_p.P721H|MYBPC1_ENST00000392934.3_Missense_Mutation_p.P708H|MYBPC1_ENST00000551300.1_Missense_Mutation_p.P622H|MYBPC1_ENST00000361685.2_Missense_Mutation_p.P746H|MYBPC1_ENST00000361466.2_Missense_Mutation_p.P746H|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.P702H|MYBPC1_ENST00000550270.1_Missense_Mutation_p.P721H|MYBPC1_ENST00000547509.1_Missense_Mutation_p.P707H|MYBPC1_ENST00000360610.2_Missense_Mutation_p.P721H			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	721	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ACAAGCCCTCCTACTCTTCTG	0.453000													38	80					4.14481e-20	6.93012e-20	0.006230	1	0
NLRP9	338321	broad.mit.edu	37	19	56223834	56223834	+	Missense_Mutation	SNP	T	T	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:56223834T>G	ENST00000332836.2	-	7	2651	c.2624A>C	c.(2623-2625)cAg>cCg	p.Q875P		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	875						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)		TGCACATAACTGTCTGACACC	0.413000													33	9					0	0	0.004289	0	0
KIAA1045	23349	broad.mit.edu	37	9	34976209	34976209	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr9:34976209C>A	ENST00000242315.3	+	4	707	c.625C>A	c.(625-627)Cgg>Agg	p.R209R	KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Silent_p.R209R	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	209							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			GACCTTTCAGCGGTGTAAAGT	0.507000													22	21					2.21704e-12	3.11677e-12	0.002780	1	0
BTBD10	84280	broad.mit.edu	37	11	13435091	13435091	+	Missense_Mutation	SNP	T	T	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:13435091T>G	ENST00000278174.5	-	6	1039	c.794A>C	c.(793-795)aAa>aCa	p.K265T	BTBD10_ENST00000528120.1_Missense_Mutation_p.K217T|BTBD10_ENST00000530907.1_Missense_Mutation_p.K273T	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	265						nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		ATCTCTACATTTAATAGTGCT	0.323000													95	165					0	0	0.003610	0	0
GDF10	2662	broad.mit.edu	37	10	48429305	48429305	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:48429305G>T	ENST00000224605.2	-	2	846	c.581C>A	c.(580-582)gCg>gAg	p.A194E		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	194					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CGGTGGGGGCGCCAGGGCCAT	0.731000													21	5					1.22574e-08	1.55574e-08	0.002299	1	0
POLE	5426	broad.mit.edu	37	12	133209285	133209285	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:133209285G>T	ENST00000320574.5	-	44	6144	c.6101C>A	c.(6100-6102)tCc>tAc	p.S2034Y	POLE_ENST00000535270.1_Missense_Mutation_p.S2007Y	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2034					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GGCCTCCTGGGAGAGCTGGCT	0.647000								DNA polymerases (catalytic subunits)					31	36					3.86903e-22	6.69209e-22	0.002836	1	0
PSG4	5672	broad.mit.edu	37	19	43702373	43702373	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:43702373A>G	ENST00000405312.3	-	3	722	c.485T>C	c.(484-486)aTg>aCg	p.M162T	PSG4_ENST00000433626.2_Intron|PSG4_ENST00000244295.9_Missense_Mutation_p.M162T	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	162	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CACAGCCTCCATGGCCTCCCT	0.542000													111	45					0	0	0.003610	0	0
ENGASE	64772	broad.mit.edu	37	17	77077075	77077075	+	Silent	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:77077075A>T	ENST00000579016.1	+	6	792	c.792A>T	c.(790-792)ccA>ccT	p.P264P	ENGASE_ENST00000539857.2_Silent_p.P78P	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	264						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GGCAGGTCCCAGGGGGCCTGG	0.592000													15	33					0	0	0.003163	0	0
DIS3	22894	broad.mit.edu	37	13	73350083	73350083	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr13:73350083C>T	ENST00000377767.4	-	5	902	c.802G>A	c.(802-804)Gac>Aac	p.D268N	DIS3_ENST00000545453.1_Missense_Mutation_p.D106N|DIS3_ENST00000377780.4_Missense_Mutation_p.D238N	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	268					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	p.D268N(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TCTTCATTGTCGCCATGAATC	0.303000										Multiple Myeloma(4;0.011)			5	14					0	0	0.000602	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124209239	124209239	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:124209239C>T	ENST00000330342.3	+	4	581	c.333C>T	c.(331-333)gtC>gtT	p.V111V		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	111					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TGAGAGAAGTCACTAAGAACA	0.398000													51	174					0	0	0.003610	0	0
MORC1	27136	broad.mit.edu	37	3	108773722	108773722	+	Missense_Mutation	SNP	C	C	G	rs114679116	by1000genomes	TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:108773722C>G	ENST00000232603.5	-	14	1265	c.1183G>C	c.(1183-1185)Gca>Cca	p.A395P	MORC1_ENST00000483760.1_Missense_Mutation_p.A395P	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	395					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACCACGCCTGCGCCAAGTCTG	0.303000													31	20					0	0	0.009535	0	0
DBNDD1	79007	broad.mit.edu	37	16	90072808	90072808	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr16:90072808C>T	ENST00000392973.3	-	3	1161	c.430G>A	c.(430-432)Gac>Aac	p.D144N	DBNDD1_ENST00000002501.6_Missense_Mutation_p.D138N|DBNDD1_ENST00000304733.3_Missense_Mutation_p.D158N|DBNDD1_ENST00000568838.1_Missense_Mutation_p.D258N			Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 1	138						cytoplasm				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0275)		CGCTCGGGGTCGCCTAGGGGC	0.682000													5	15					0	0	0.001168	0	0
RASSF2	9770	broad.mit.edu	37	20	4768348	4768348	+	Splice_Site	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr20:4768348C>T	ENST00000478553.1	-	7	714		c.e7-1		RASSF2_ENST00000379376.2_Silent_p.Q248Q|RASSF2_ENST00000379400.3_Silent_p.Q248Q			P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2						cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						CACATGGGCCCTGGAGGATTC	0.557000													29	29					0	0	0.006320	0	0
MDGA1	266727	broad.mit.edu	37	6	37623514	37623514	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:37623514C>A	ENST00000434837.2	-	4	1719	c.541G>T	c.(541-543)Gac>Tac	p.D181Y	MDGA1_ENST00000505425.1_Missense_Mutation_p.D181Y|MDGA1_ENST00000297153.7_Missense_Mutation_p.D181Y	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	181	Ig-like 2.				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						ACCCCATTGTCCTGGCTGTGG	0.602000													12	5					0.00185496	0.00196131	0.001855	1	0
CCDC85A	114800	broad.mit.edu	37	2	56420123	56420123	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:56420123G>A	ENST00000407595.2	+	2	1290	c.788G>A	c.(787-789)aGa>aAa	p.R263K	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	263	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAGAAACCCAGAGCCTGTGGA	0.657000													17	37					0	0	0.004007	0	0
TTN	7273	broad.mit.edu	37	2	179469749	179469749	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:179469749C>T	ENST00000589042.1	-	280	54379	c.54155G>A	c.(54154-54156)gGc>gAc	p.G18052D	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G16411D|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G9112D|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G8987D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G15484D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G9179D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16411	Fibronectin type-III 31.						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)			GAACACTGAGCCAAGGCGATT	0.448000													84	108					0	0	0.003610	0	0
EPG5	57724	broad.mit.edu	37	18	43464770	43464770	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr18:43464770T>A	ENST00000282041.5	-	30	5150	c.5116A>T	c.(5116-5118)Atc>Ttc	p.I1706F	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1706					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ATGCCACTGATAAATACCTTG	0.398000													11	9					0	0	0.010729	0	0
APOB	338	broad.mit.edu	37	2	21237382	21237382	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:21237382C>A	ENST00000233242.1	-	24	3907	c.3780G>T	c.(3778-3780)gaG>gaT	p.E1260D		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1260					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGAGGTTGAACTCCTTCAGGC	0.458000													14	32					2.61681e-11	3.55139e-11	0.002450	1	0
UGT3A2	167127	broad.mit.edu	37	5	36066872	36066872	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:36066872A>G	ENST00000282507.3	-	1	121	c.20T>C	c.(19-21)cTt>cCt	p.L7P	UGT3A2_ENST00000513300.1_Missense_Mutation_p.L7P|UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000545528.1_5'UTR	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	7						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACTAGAAGAAGCACTCGCTG	0.607000													72	273					0	0	0.003610	0	0
TTC18	118491	broad.mit.edu	37	10	75053068	75053068	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:75053068C>T	ENST00000401621.2	-	17	2053	c.1933G>A	c.(1933-1935)Gca>Aca	p.A645T	TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.A645T|TTC18_ENST00000310715.3_Missense_Mutation_p.A645T|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000355577.3_Missense_Mutation_p.A114T			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	645							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TTGACTTCTGCTTCAAATGCA	0.378000													18	15					0	0	0.007413	0	0
DOPEY2	9980	broad.mit.edu	37	21	37623566	37623566	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr21:37623566G>A	ENST00000399151.3	+	22	5190	c.5105G>A	c.(5104-5106)cGt>cAt	p.R1702H		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1702					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAAGCCCAGCGTCACAGTAAG	0.423000													12	36					0	0	0.001368	0	0
CASS4	57091	broad.mit.edu	37	20	55025690	55025690	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr20:55025690C>A	ENST00000371336.3	+	4	798	c.597C>A	c.(595-597)gcC>gcA	p.A199A	CASS4_ENST00000360314.3_Silent_p.A199A|CASS4_ENST00000434344.1_Silent_p.A199A	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	199					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						ACATACCAGCCAGCCCCAAGA	0.488000													12	24					0.000151284	0.000166267	0.001855	1	0
KLB	152831	broad.mit.edu	37	4	39409048	39409048	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr4:39409048C>T	ENST00000257408.4	+	1	576	c.479C>T	c.(478-480)cCc>cTc	p.P160L		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	160	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AGGCTTTTCCCCGATGGAATA	0.383000													40	28					0	0	0.004878	0	0
WDFY3	23001	broad.mit.edu	37	4	85687018	85687018	+	Silent	SNP	T	T	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr4:85687018T>G	ENST00000322366.6	-	32	5540	c.5133A>C	c.(5131-5133)ggA>ggC	p.G1711G	WDFY3_ENST00000295888.4_Silent_p.G1711G			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1711						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAAGCCATCCTCCACCACTGA	0.403000													27	10					0	0	0.010818	0	0
OR2T10	127069	broad.mit.edu	37	1	248756850	248756850	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:248756850T>C	ENST00000330500.2	-	1	250	c.220A>G	c.(220-222)Att>Gtt	p.I74V		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTGACAGAAATATATGTCAAG	0.443000													12	26					0	0	0.010729	0	0
OR3A3	8392	broad.mit.edu	37	17	3324735	3324735	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:3324735C>A	ENST00000291231.1	+	1	874	c.874C>A	c.(874-876)Ccc>Acc	p.P292T		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						TGTGATCAACCCCATGCTGAA	0.498000													97	13					1.40862e-40	2.73438e-40	0.003610	1	0
TTN	7273	broad.mit.edu	37	2	179451449	179451449	+	Silent	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:179451449A>G	ENST00000589042.1	-	308	64403	c.64179T>C	c.(64177-64179)gaT>gaC	p.D21393D	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.D19752D|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.D12453D|TTN_ENST00000460472.2_Silent_p.D12328D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Silent_p.D18825D|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.D12520D|TTN-AS1_ENST00000590743.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19752	Ig-like 113.						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)			TAGCACCTCCATCACGTAGGG	0.478000													48	62					0	0	0.013114	0	0
PCDHB15	56121	broad.mit.edu	37	5	140627303	140627303	+	Silent	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:140627303G>C	ENST00000231173.3	+	1	2157	c.2157G>C	c.(2155-2157)gcG>gcC	p.A719A		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		719			A -> V (in a breast cancer sample; somatic mutation).		homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGCAGGGCGGCCTCAGTGG	0.647000													116	48					0	0	0.003610	0	0
SGK3	23678	broad.mit.edu	37	8	67755688	67755688	+	Splice_Site	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:67755688A>G	ENST00000396596.1	+	14	1194	c.978_splice	c.e14-1	p.Y327_splice	SGK3_ENST00000521435.1_3'UTR|C8orf44-SGK3_ENST00000519289.1_Splice_Site_p.Y327_splice|SGK3_ENST00000520976.1_Intron|SGK3_ENST00000345714.4_Splice_Site_p.Y327_splice|SGK3_ENST00000522398.1_Splice_Site_p.Y327_splice|SGK3_ENST00000521198.2_Splice_Site_p.Y327_splice	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	327	Protein kinase.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTTCTATAGTATCTTGCACCT	0.313000													4	66					0	0	0.009096	0	0
POU6F2	11281	broad.mit.edu	37	7	39379546	39379546	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:39379546C>A	ENST00000518318.2	+	5	859	c.817C>A	c.(817-819)Ccg>Acg	p.P273T	POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Missense_Mutation_p.P265T|POU6F2_ENST00000403058.1_Missense_Mutation_p.P273T			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	273	Gln-rich.|Pro-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						ctccagccccCCGCAGAAACC	0.622000													40	40					6.5261e-18	1.06282e-17	0.008740	1	0
MARCH5	54708	broad.mit.edu	37	10	94100552	94100552	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:94100552G>T	ENST00000358935.2	+	3	693	c.361G>T	c.(361-363)Gtg>Ttg	p.V121L	MARCH5_ENST00000467521.2_3'UTR	NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	121					cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						AGCAGTGACAGTGATGCAGGT	0.358000													44	29					1.89013e-27	3.45513e-27	0.003610	1	0
UNC13C	440279	broad.mit.edu	37	15	54305511	54305511	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr15:54305511C>A	ENST00000545554.1	+	1	411	c.411C>A	c.(409-411)agC>agA	p.S137R	UNC13C_ENST00000537900.1_Missense_Mutation_p.S137R|UNC13C_ENST00000260323.11_Missense_Mutation_p.S137R			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	137					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TAAGGAGTAGCACAGAAAACC	0.458000													7	26					8.12818e-05	8.99624e-05	0.001984	1	0
CBX2	84733	broad.mit.edu	37	17	77757746	77757746	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:77757746C>T	ENST00000310942.4	+	5	608	c.504C>T	c.(502-504)ccC>ccT	p.P168P		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	168					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GACGAAAGCCCCTGCCCCCAG	0.677000													14	35					0	0	0.003163	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744686	70744686	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:70744686C>A	ENST00000260126.3	-	2	929	c.223G>T	c.(223-225)Ggc>Tgc	p.G75C	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.G75C|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.G75C|SLCO5A1_ENST00000528658.1_5'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	75						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)			GGGTTCGGGCCTTGCTTCAAC	0.652000											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	69					6.40141e-05	7.11016e-05	0.010729	1	0
OR5T1	390155	broad.mit.edu	37	11	56043464	56043464	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:56043464G>T	ENST00000313033.2	+	1	436	c.350G>T	c.(349-351)tGt>tTt	p.C117F		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TTTCTTGCTTGTACTTTTGGA	0.403000													78	62					2.84431e-33	5.37973e-33	0.003610	1	0
STAT1	6772	broad.mit.edu	37	2	191843668	191843668	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:191843668G>A	ENST00000361099.3	-	21	2174	c.1787C>T	c.(1786-1788)cCg>cTg	p.P596L	STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392322.3_Missense_Mutation_p.P596L|STAT1_ENST00000392323.2_Missense_Mutation_p.P598L|STAT1_ENST00000409465.1_Missense_Mutation_p.P596L	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	596	SH2.				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	GAAGGTCCCCGGCTGCTGGTC	0.582000													13	22					0	0	0.001368	0	0
USP13	8975	broad.mit.edu	37	3	179426668	179426668	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:179426668G>T	ENST00000263966.3	+	6	1199	c.728G>T	c.(727-729)gGg>gTg	p.G243V	USP13_ENST00000496897.1_Missense_Mutation_p.G178V|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	243					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			GGGGGCAACGGGCATGCGCTG	0.557000													31	59					3.99451e-17	6.37292e-17	0.009535	1	0
GPR158	57512	broad.mit.edu	37	10	25887846	25887846	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:25887846G>C	ENST00000376351.3	+	11	3650	c.3291G>C	c.(3289-3291)gaG>gaC	p.E1097D	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1097						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTCTCCCAGAGAGGGCAAAAG	0.512000													19	61					0	0	0.006122	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57873156	57873156	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:57873156C>T	ENST00000393797.2	-	5	439	c.247G>A	c.(247-249)Ggg>Agg	p.G83R	ARHGAP9_ENST00000424809.2_Missense_Mutation_p.G12R|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.G91R|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.G12R|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.G12R			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	12	SH3.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CCTAGGATCCCCCAGGAACTT	0.597000													23	40					0	0	0.003330	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136544	40136544	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:40136544C>A	ENST00000278198.2	-	2	3262	c.1299G>T	c.(1297-1299)ggG>ggT	p.G433G	LRRC4C_ENST00000527150.1_Silent_p.G433G|LRRC4C_ENST00000530763.1_Silent_p.G433G|LRRC4C_ENST00000528697.1_Silent_p.G433G			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	433	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CAGTAGTATTCCCAACGGAAT	0.443000													27	119					4.22769e-11	5.71902e-11	0.006320	1	0
KIAA1324	57535	broad.mit.edu	37	1	109737089	109737089	+	Missense_Mutation	SNP	C	C	G	rs147403321		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:109737089C>G	ENST00000369939.3	+	15	2177	c.1994C>G	c.(1993-1995)cCg>cGg	p.P665R	KIAA1324_ENST00000529753.1_Missense_Mutation_p.P578R|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	665					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CGCAACACTCCGACCAGGACT	0.557000													32	11					0	0	0.003271	0	0
ZFP57	346171	broad.mit.edu	37	6	29644687	29644687	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:29644687C>A	ENST00000376883.1	-	3	445	c.34G>T	c.(34-36)Gat>Tat	p.D12Y	ZFP57_ENST00000376881.3_Missense_Mutation_p.D12Y|ZFP57_ENST00000488757.1_Missense_Mutation_p.D32Y			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	0					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						CTCCAGCAATCTCTCTTCATG	0.547000													74	13					4.14589e-37	7.94947e-37	0.003610	1	0
RNF152	220441	broad.mit.edu	37	18	59483374	59483374	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr18:59483374T>A	ENST00000312828.3	-	2	1422	c.323A>T	c.(322-324)aAg>aTg	p.K108M		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	108					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				CGCACGCTCCTTGGAGATGGG	0.627000													36	28					0	0	0.003271	0	0
CCER1	196477	broad.mit.edu	37	12	91348150	91348150	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:91348150A>G	ENST00000358859.2	-	1	803	c.370T>C	c.(370-372)Tgc>Cgc	p.C124R	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		CCGCTCCAGCAGGAGCAGCAG	0.682000													15	25					0	0	0.004007	0	0
ATAD2	29028	broad.mit.edu	37	8	124361643	124361643	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:124361643T>C	ENST00000287394.5	-	14	1795	c.1688A>G	c.(1687-1689)gAc>gGc	p.D563G	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CCCTCTGCTGTCCAATCCATC	0.388000													18	113					0	0	0.010504	0	0
COL5A2	1290	broad.mit.edu	37	2	189975122	189975122	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:189975122T>A	ENST00000374866.3	-	2	425	c.151A>T	c.(151-153)Agg>Tgg	p.R51W		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	51	VWFC.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CAAATGTCCCTGTTTAAGTAC	0.418000													18	30					0	0	0.012319	0	0
OR6B2	389090	broad.mit.edu	37	2	240969769	240969769	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:240969769C>A	ENST00000402971.2	-	1	137	c.78G>T	c.(76-78)ctG>ctT	p.L26L		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GGAGGAAGAGCAGGTACTGCA	0.607000													27	72					3.65163e-15	5.57752e-15	0.006320	1	0
IKZF5	64376	broad.mit.edu	37	10	124753978	124753978	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:124753978C>G	ENST00000368886.5	-	5	898	c.578G>C	c.(577-579)aGa>aCa	p.R193T	PSTK_ENST00000497219.1_Intron	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		TAGTGCTCTTCTGCTATAGCC	0.413000													31	88					0	0	0.002836	0	0
CADM3	57863	broad.mit.edu	37	1	159166236	159166236	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:159166236C>A	ENST00000368125.4	+	6	931	c.774C>A	c.(772-774)ggC>ggA	p.G258G	CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Silent_p.G292G	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	258	Ig-like C2-type 2.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					AGGGTCGCGGCAATCCAGTGT	0.507000											OREG0013913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	6					3.86212e-05	4.32419e-05	0.008291	1	0
BCL9	607	broad.mit.edu	37	1	147090787	147090787	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:147090787C>T	ENST00000234739.3	+	8	1566	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	276	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TCCCCTGGACCGGGAGAGTCC	0.592000			T	"""IGH@, IGL@"""	B-ALL								17	64					0	0	0.004990	0	0
GNPAT	8443	broad.mit.edu	37	1	231406610	231406610	+	Silent	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:231406610G>C	ENST00000366647.4	+	10	1555	c.1386G>C	c.(1384-1386)tcG>tcC	p.S462S	GNPAT_ENST00000366646.3_Silent_p.S401S	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	462					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				CCGGAGACTCGGAAGTGGTCG	0.507000													47	15					0	0	0.003610	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862951	10862951	+	RNA	SNP	T	T	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr21:10862951T>G	ENST00000559480.1	+	0	247																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						TGCACAGAAGTTCCAGGCCAG	0.532000													94	127					0	0	0.003610	0	0
DLG2	1740	broad.mit.edu	37	11	83180381	83180381	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:83180381C>A	ENST00000398309.2	-	20	2637	c.2167G>T	c.(2167-2169)Ggc>Tgc	p.G723C	DLG2_ENST00000404783.3_Missense_Mutation_p.G201C|DLG2_ENST00000376104.2_Missense_Mutation_p.G828C|DLG2_ENST00000426717.2_Missense_Mutation_p.G187C|DLG2_ENST00000532653.1_Missense_Mutation_p.G705C|DLG2_ENST00000524982.1_Missense_Mutation_p.G719C|DLG2_ENST00000330014.6_Missense_Mutation_p.G644C|DLG2_ENST00000531015.1_Missense_Mutation_p.G690C|DLG2_ENST00000418306.2_Missense_Mutation_p.G602C|DLG2_ENST00000280241.8_Missense_Mutation_p.G762C|DLG2_ENST00000543673.1_Missense_Mutation_p.G828C|DLG2_ENST00000376106.3_Missense_Mutation_p.G187C|DLG2_ENST00000537455.1_Missense_Mutation_p.G473C	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	723	Guanylate kinase-like.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TAGTCTCTGCCATCCACCTCG	0.368000													9	63					0.000442599	0.000475188	0.006214	1	0
SLC9A8	23315	broad.mit.edu	37	20	48491357	48491357	+	Splice_Site	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr20:48491357T>A	ENST00000417961.1	+	11	1332	c.1123_splice	c.e11+1	p.C374_splice	SLC9A8_ENST00000361573.2_Splice_Site_p.C358_splice|SLC9A8_ENST00000541138.1_Splice_Site_p.C58_splice|SLC9A8_ENST00000539601.1_Splice_Site_p.C139_splice	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	358						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			CCTTCTTATGTGGTGAGTTCT	0.547000													24	101					0	0	0.003954	0	0
ARC	23237	broad.mit.edu	37	8	143694774	143694774	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:143694774C>T	ENST00000356613.2	-	1	2059	c.859G>A	c.(859-861)Gag>Aag	p.E287K		NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	287					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				AGGTCCAGCTCGCGCTGGATG	0.642000													13	68					0	0	0.001368	0	0
BATF2	116071	broad.mit.edu	37	11	64756724	64756724	+	Silent	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:64756724A>T	ENST00000301887.4	-	3	832	c.702T>A	c.(700-702)cgT>cgA	p.R234R	BATF2_ENST00000435842.2_Silent_p.R149R|BATF2_ENST00000527716.1_Silent_p.R210R	NM_138456.3	NP_612465.3	Q8N1L9	BATF2_HUMAN	basic leucine zipper transcription factor, ATF-like 2	234						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1)	9						TGCTCTGCAGACGTGCAAGCC	0.637000													23	28					0	0	0.003330	0	0
SIRPB2	284759	broad.mit.edu	37	20	1458023	1458023	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr20:1458023T>A	ENST00000381630.1	-	4	550	c.527A>T	c.(526-528)cAg>cTg	p.Q176L	SIRPB2_ENST00000444444.1_Silent_p.A175A|SIRPB2_ENST00000359801.3_Silent_p.A273A|SIRPB2_ENST00000537284.1_Silent_p.A135A			Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	0	Ig-like V-type 2.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGGTGAATTCTGCCTCTTTGG	0.517000													57	91					0	0	0.003610	0	0
KRT31	3881	broad.mit.edu	37	17	39551865	39551865	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:39551865G>T	ENST00000251645.2	-	4	651	c.599C>A	c.(598-600)aCc>aAc	p.T200N		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	200	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GCAGCGCAGGGTATTGACCTC	0.493000													28	12					2.12542e-12	2.99469e-12	0.006320	1	0
UNC79	57578	broad.mit.edu	37	14	94008975	94008975	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr14:94008975C>A	ENST00000553484.1	+	14	1842	c.1688C>A	c.(1687-1689)aCc>aAc	p.T563N	UNC79_ENST00000555664.1_Missense_Mutation_p.T563N|UNC79_ENST00000393151.2_Missense_Mutation_p.T563N|UNC79_ENST00000256339.4_Missense_Mutation_p.T386N			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	563						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGGCTGAAGACCGTATGTGAT	0.478000													70	55					5.88917e-42	1.14674e-41	0.003610	1	0
MCC	4163	broad.mit.edu	37	5	112676326	112676326	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:112676326C>A	ENST00000408903.3	-	3	932	c.517G>T	c.(517-519)Gag>Tag	p.E173*	CTD-2201G3.1_ENST00000416046.2_RNA	NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CCGCCATACTCGAGCAGCTTC	0.577000													13	18					7.03913e-09	8.97972e-09	0.001368	1	0
OR4N5	390437	broad.mit.edu	37	14	20612261	20612261	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr14:20612261T>A	ENST00000333629.1	+	1	367	c.367T>A	c.(367-369)Tac>Aac	p.Y123N		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CTTTGACCGCTACATCGCCAT	0.483000													43	74					0	0	0.007835	0	0
OR2W5	441932	broad.mit.edu	37	1	247654765	247654765	+	RNA	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:247654765C>G	ENST00000522351.1	+	0	396							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	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;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCACCGAGTGCGTCCTCCTGG	0.602000													26	56					0	0	0.005443	0	0
HERC1	8925	broad.mit.edu	37	15	63990931	63990931	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr15:63990931G>T	ENST00000443617.2	-	26	4988	c.4901C>A	c.(4900-4902)gCa>gAa	p.A1634E	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1634					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACTTACTTCTGCCCTTAACTG	0.423000													3	21					0.00024832	0.000269371	0.009096	1	0
PM20D2	135293	broad.mit.edu	37	6	89868113	89868113	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:89868113A>G	ENST00000275072.4	+	5	1077	c.982A>G	c.(982-984)Atg>Gtg	p.M328V		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	328							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		GAAAGCCTATATGGAAAATGG	0.308000													35	7					0	0	0.004289	0	0
DDO	8528	broad.mit.edu	37	6	110714269	110714269	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:110714269G>T	ENST00000368924.3	-	5	834	c.819C>A	c.(817-819)tcC>tcA	p.S273S	DDO_ENST00000368925.1_Silent_p.S245S|DDO_ENST00000368923.3_Silent_p.S214S	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	245					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CTGCATCCGGGGACAGATTCC	0.522000													77	30					1.45978e-39	2.82059e-39	0.003610	1	0
SPAM1	6677	broad.mit.edu	37	7	123593726	123593726	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:123593726G>T	ENST00000340011.5	+	3	459	c.102G>T	c.(100-102)ttG>ttT	p.L34F	SPAM1_ENST00000402183.2_Missense_Mutation_p.L34F|SPAM1_ENST00000439500.1_Missense_Mutation_p.L34F|SPAM1_ENST00000223028.7_Missense_Mutation_p.L34F|SPAM1_ENST00000460182.1_Missense_Mutation_p.L34F	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	34					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	CATGTTGCTTGACTCTGAATT	0.418000													7	30					5.4927e-09	7.02125e-09	0.004482	1	0
GSG1L	146395	broad.mit.edu	37	16	27818864	27818864	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr16:27818864C>G	ENST00000380898.2	-	7	980	c.431G>C	c.(430-432)aGg>aCg	p.R144T	GSG1L_ENST00000569166.1_Missense_Mutation_p.R144T|GSG1L_ENST00000380897.3_Missense_Mutation_p.R126T|GSG1L_ENST00000447459.2_Missense_Mutation_p.R281T|GSG1L_ENST00000395724.3_Missense_Mutation_p.R230T			Q6UXU4	GSG1L_HUMAN	GSG1-like	281						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						GCTCCCGTCCCTCTTCTCCAT	0.483000													15	16					0	0	0.002450	0	0
BNC1	646	broad.mit.edu	37	15	83932172	83932172	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr15:83932172G>C	ENST00000345382.2	-	4	1916	c.1831C>G	c.(1831-1833)Cgt>Ggt	p.R611G	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.R604G	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	611					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R611C(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ACTGATTCACGATGGCAGGGC	0.547000													48	25					0	0	0.013114	0	0
BAI1	575	broad.mit.edu	37	8	143620762	143620762	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:143620762G>T	ENST00000517894.1	+	27	4588	c.3694G>T	c.(3694-3696)Gcc>Tcc	p.A1232S	BAI1_ENST00000323289.5_Missense_Mutation_p.A1232S			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1232					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CGTGGATCTGGCCTGTAGATC	0.667000													14	6					2.48551e-13	3.56616e-13	0.004990	1	0
MYOC	4653	broad.mit.edu	37	1	171621499	171621499	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:171621499G>T	ENST00000037502.5	-	1	312	c.253C>A	c.(253-255)Ctg>Atg	p.L85M		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	85					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GTGGCCTCCAGGTCTAAGCGT	0.602000													22	50					0.00229938	0.00242712	0.002299	1	0
EYS	346007	broad.mit.edu	37	6	66205227	66205227	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:66205227C>T	ENST00000503581.1	-	4	614	c.77G>A	c.(76-78)cGg>cAg	p.R26Q	EYS_ENST00000370621.3_Missense_Mutation_p.R26Q|EYS_ENST00000342421.5_Missense_Mutation_p.R26Q|EYS_ENST00000370616.2_Missense_Mutation_p.R26Q|EYS_ENST00000370618.3_Missense_Mutation_p.R26Q|EYS_ENST00000393380.2_Missense_Mutation_p.R26Q	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	26					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CACCAATTGCCGTCTACATGT	0.398000													30	5					0	0	0.007291	0	0
UNC5D	137970	broad.mit.edu	37	8	35579785	35579785	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:35579785C>A	ENST00000287272.2	+	8	1027	c.1007C>A	c.(1006-1008)gCc>gAc	p.A336D	UNC5D_ENST00000404895.2_Missense_Mutation_p.A392D|UNC5D_ENST00000453357.2_Missense_Mutation_p.A387D|UNC5D_ENST00000420357.1_Missense_Mutation_p.A325D|UNC5D_ENST00000416672.1_Missense_Mutation_p.A397D			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	392	TSP type-1 2.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GCCGTCGTGGCCGTTGCAGTC	0.532000													57	96					1.08141e-31	2.024e-31	0.003610	1	0
LMBRD1	55788	broad.mit.edu	37	6	70462161	70462161	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:70462161C>G	ENST00000370577.3	-	4	624	c.395G>C	c.(394-396)aGt>aCt	p.S132T	LMBRD1_ENST00000370570.1_Missense_Mutation_p.S59T	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	132					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						AGTACATTTACTAGTATCATC	0.294000													9	7					0	0	0.004482	0	0
CCDC27	148870	broad.mit.edu	37	1	3669272	3669272	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:3669272G>T	ENST00000294600.2	+	1	311	c.227G>T	c.(226-228)cGg>cTg	p.R76L		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	76										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		ATGGCCAGCCGGGACGCCCGG	0.622000													18	61					8.34094e-07	1.00476e-06	0.008871	1	0
TMEM132D	121256	broad.mit.edu	37	12	129694181	129694181	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:129694181G>T	ENST00000422113.2	-	5	1653	c.1327C>A	c.(1327-1329)Ctc>Atc	p.L443I	RP11-669N7.3_ENST00000542578.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	443						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTCCCCGTGAGGATGGCTGTG	0.602000													12	59					4.36969e-10	5.76193e-10	0.001855	1	0
MUC17	140453	broad.mit.edu	37	7	100674437	100674437	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:100674437G>C	ENST00000306151.4	+	2	183	c.119G>C	c.(118-120)gGg>gCg	p.G40A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	40						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)					GATGGAGGAGGGTGCATCTCC	0.522000													20	96					0	0	0.002299	0	0
TNNI3	7137	broad.mit.edu	37	19	55666188	55666188	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:55666188C>G	ENST00000344887.5	-	6	435	c.293G>C	c.(292-294)cGa>cCa	p.R98P	TNNI3_ENST00000588882.1_Missense_Mutation_p.R73P|CTD-2587H24.4_ENST00000587871.1_3'UTR|TNNI3_ENST00000590463.1_5'UTR	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	98					cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GTGGAGCTGTCGGCACAAGTC	0.587000													23	10					0	0	0.003330	0	0
PAK7	57144	broad.mit.edu	37	20	9546657	9546657	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr20:9546657G>T	ENST00000378429.3	-	6	1911	c.1365C>A	c.(1363-1365)atC>atA	p.I455I	PAK7_ENST00000353224.5_Silent_p.I455I|PAK7_ENST00000378423.1_Silent_p.I455I	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	455	Protein kinase.						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)			AGCCTTCCCCGATTTTGATAA	0.562000													63	98					1.85257e-25	3.32826e-25	0.003610	1	0
COL3A1	1281	broad.mit.edu	37	2	189850439	189850439	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:189850439C>T	ENST00000304636.3	+	4	552	c.382C>T	c.(382-384)Caa>Taa	p.Q128*	COL3A1_ENST00000317840.5_Nonsense_Mutation_p.Q128*	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	128					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TATTCCAGGACAACCAGGGTC	0.443000													16	29					0	0	0.007413	0	0
DDHD1	80821	broad.mit.edu	37	14	53525260	53525260	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr14:53525260C>A	ENST00000357758.3	-	9	2110	c.1927G>T	c.(1927-1929)Gac>Tac	p.D643Y	DDHD1_ENST00000395606.1_Missense_Mutation_p.D650Y|DDHD1_ENST00000323669.5_Missense_Mutation_p.D643Y	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	643	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					AAAATATGGTCTTGACTTCCA	0.393000													14	27					1.49906e-05	1.71204e-05	0.002450	1	0
LRP1B	53353	broad.mit.edu	37	2	141819818	141819818	+	Silent	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:141819818C>G	ENST00000389484.3	-	8	2009	c.1038G>C	c.(1036-1038)ggG>ggC	p.G346G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	346					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)		TGGCGACATTCCCGTAGTCAG	0.448000										TSP Lung(27;0.18)			10	51					0	0	0.008291	0	0
PAX5	5079	broad.mit.edu	37	9	36882061	36882061	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr9:36882061G>T	ENST00000358127.4	-	8	1026	c.952C>A	c.(952-954)Cac>Aac	p.H318N	PAX5_ENST00000414447.1_Missense_Mutation_p.H275N|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000377852.2_Intron|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000377853.2_Missense_Mutation_p.H318N|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000522003.1_Missense_Mutation_p.H210N|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000520281.1_Missense_Mutation_p.H275N	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	318					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(22)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GGGGGGACGTGTGGAGGGTAC	0.637000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								9	20					2.27111e-07	2.7894e-07	0.001368	1	0
ANO7	50636	broad.mit.edu	37	2	242144350	242144350	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:242144350G>T	ENST00000274979.8	+	10	1225	c.1122G>T	c.(1120-1122)ctG>ctT	p.L374L	ANO7_ENST00000402430.3_Silent_p.L373L	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	374						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GCTGCTTCCTGGTGTTCTCAG	0.642000													22	58					4.26978e-12	5.93603e-12	0.003330	1	0
ST18	9705	broad.mit.edu	37	8	53085144	53085144	+	Splice_Site	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:53085144C>G	ENST00000276480.7	-	10	961		c.e10-1			NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ATGATTTCCTCTATGGAAAAA	0.308000													23	9					0	0	0.002780	0	0
SAG	6295	broad.mit.edu	37	2	234224723	234224723	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:234224723G>T	ENST00000409110.1	+	3	308	c.78G>T	c.(76-78)gtG>gtT	p.V26V		NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	26					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TCTTGCAGGTGACCATCTACC	0.507000													3	6					2.56e-06	3.02853e-06	0.009096	1	0
DCAF12L1	139170	broad.mit.edu	37	X	125686543	125686543	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chrX:125686543C>A	ENST00000371126.1	-	1	291	c.49G>T	c.(49-51)Gag>Tag	p.E17*		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	17										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						GCGTCCGCCTCGACCGCGGGC	0.726000													37	12					2.6416e-12	3.70948e-12	0.006230	1	0
RASSF2	9770	broad.mit.edu	37	20	4768349	4768349	+	Missense_Mutation	SNP	T	T	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr20:4768349T>G	ENST00000379400.3	-	10	938	c.743A>C	c.(742-744)cAg>cCg	p.Q248P	RASSF2_ENST00000379376.2_Missense_Mutation_p.Q248P|RASSF2_ENST00000478553.1_Splice_Site	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	248	Ras-associating.				cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						ACATGGGCCCTGGAGGATTCG	0.552000													29	32					0	0	0.006320	0	0
VWA3A	146177	broad.mit.edu	37	16	22144393	22144393	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr16:22144393G>A	ENST00000389398.5	+	20	2141	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	682	VWFA 1.					extracellular region		p.R682H(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GCAGGTGGCCGCTTCCACTGG	0.582000													5	22					0	0	0.000602	0	0
OR51I2	390064	broad.mit.edu	37	11	5474973	5474973	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:5474973C>T	ENST00000341449.2	+	1	336	c.255C>T	c.(253-255)ttC>ttT	p.F85F	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCGAACCTTCTGCCTCAATG	0.488000													23	52					0	0	0.003954	0	0
C6	729	broad.mit.edu	37	5	41181494	41181494	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:41181494G>A	ENST00000263413.3	-	7	1158	c.894C>T	c.(892-894)gcC>gcT	p.A298A	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Silent_p.A298A	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	298	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.A298A(1)		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)				CTTGTTTGAAGGCAGAATTAT	0.353000													14	96					0	0	0.003163	0	0
KCNH7	90134	broad.mit.edu	37	2	163256746	163256746	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:163256746C>A	ENST00000332142.5	-	10	2459	c.2360G>T	c.(2359-2361)aGa>aTa	p.R787I		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	787					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AATGGAGCCTCTGGATAAGAA	0.443000													21	54					1.00905e-13	1.47476e-13	0.008871	1	0
AKAP1	8165	broad.mit.edu	37	17	55183864	55183864	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:55183864G>C	ENST00000337714.3	+	2	1272	c.1039G>C	c.(1039-1041)Gct>Cct	p.A347P	AKAP1_ENST00000572557.1_Missense_Mutation_p.A347P|AKAP1_ENST00000571629.1_Missense_Mutation_p.A347P|AKAP1_ENST00000539273.1_Missense_Mutation_p.A347P|AKAP1_ENST00000314126.3_Missense_Mutation_p.A347P	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	347	PKA-RII subunit binding domain.				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GATTAAGCGGGCTGCCTTCCA	0.517000													44	42					0	0	0.003610	0	0
TRIM27	5987	broad.mit.edu	37	6	28872321	28872321	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:28872321C>A	ENST00000377199.3	-	8	1424	c.1068G>T	c.(1066-1068)ctG>ctT	p.L356L	TRIM27_ENST00000377194.3_Intron	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	356	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CACAGGGAAACAGATTGAACC	0.542000			T	RET	papillary thyroid								37	4					2.42023e-17	3.87608e-17	0.003271	1	0
UBAP2L	9898	broad.mit.edu	37	1	154209593	154209593	+	Missense_Mutation	SNP	T	T	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:154209593T>G	ENST00000428931.1	+	8	851	c.684T>G	c.(682-684)ttT>ttG	p.F228L	UBAP2L_ENST00000271877.7_Missense_Mutation_p.F239L|UBAP2L_ENST00000343815.6_Missense_Mutation_p.F228L|UBAP2L_ENST00000361546.2_Missense_Mutation_p.F228L	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	228					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTGGCCACTTTGAACCAGATG	0.403000													27	55					0	0	0.005443	0	0
IQUB	154865	broad.mit.edu	37	7	123143031	123143031	+	Silent	SNP	G	G	A	rs143722337	byFrequency	TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:123143031G>A	ENST00000466202.1	-	5	1410	c.834C>T	c.(832-834)ccC>ccT	p.P278P	IQUB_ENST00000488987.1_5'UTR|IQUB_ENST00000324698.6_Silent_p.P278P|IQUB_ENST00000434450.1_Silent_p.P278P			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	278										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TGAGTCTTTCGGGAATCCTTT	0.353000													14	54					0	0	0.001855	0	0
IFIT5	24138	broad.mit.edu	37	10	91177355	91177355	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:91177355C>G	ENST00000371795.4	+	2	612	c.399C>G	c.(397-399)taC>taG	p.Y133*	IFIT5_ENST00000416601.1_Nonsense_Mutation_p.Y133*	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	133							binding			endometrium(1)|large_intestine(4)|lung(4)	9						CTTCTAACTACAAGTTGGAGT	0.433000													13	29					0	0	0.001368	0	0
CD276	80381	broad.mit.edu	37	15	73996311	73996311	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr15:73996311A>T	ENST00000318443.5	+	5	1347	c.1045A>T	c.(1045-1047)Agc>Tgc	p.S349C	CD276_ENST00000561213.1_Missense_Mutation_p.S349C|CD276_ENST00000318424.5_Intron|CD276_ENST00000564751.1_Intron|CD276_ENST00000537340.2_Missense_Mutation_p.S203C	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	349	Ig-like V-type 2.				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						GGATTTCGGCAGCGCTGCCGT	0.667000													8	15					0	0	0.004482	0	0
CD300A	11314	broad.mit.edu	37	17	72462876	72462876	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:72462876G>A	ENST00000360141.3	+	1	322	c.34G>A	c.(34-36)Gtc>Atc	p.V12I	CD300A_ENST00000310828.5_Missense_Mutation_p.V12I|CD300A_ENST00000361933.3_Missense_Mutation_p.V12I|CD300A_ENST00000392625.3_Missense_Mutation_p.V12I	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	12					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GCTTCTCTGGGTCCCAGGTGA	0.662000													3	0					0	0	0.009096	0	0
ANKRD13B	124930	broad.mit.edu	37	17	27935961	27935961	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:27935961G>C	ENST00000394859.3	+	5	668	c.514G>C	c.(514-516)Gac>Cac	p.D172H	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	172										cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						CCTGGGCTTTGACCACATGAC	0.617000													14	29					0	0	0.004007	0	0
LRRK2	120892	broad.mit.edu	37	12	40672061	40672061	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:40672061C>T	ENST00000298910.7	+	18	2297	c.2239C>T	c.(2239-2241)Cag>Tag	p.Q747*	LRRK2_ENST00000343742.2_Nonsense_Mutation_p.Q747*	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	747					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTAATTTGTCAGGTAAATAT	0.378000													107	10					0	0	0.003610	0	0
LAMB4	22798	broad.mit.edu	37	7	107706881	107706881	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:107706881G>T	ENST00000388781.3	-	20	2694	c.2611C>A	c.(2611-2613)Ctt>Att	p.L871I	LAMB4_ENST00000388780.3_Missense_Mutation_p.L871I|LAMB4_ENST00000205386.4_Missense_Mutation_p.L871I	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	871	Laminin EGF-like 8.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GGATCACAAAGTTCAGCAAAC	0.488000													7	54					5.18039e-06	6.05425e-06	0.003080	1	0
KCNH1	3756	broad.mit.edu	37	1	211192569	211192569	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:211192569G>T	ENST00000367007.4	-	6	757	c.588C>A	c.(586-588)ccC>ccA	p.P196P	KCNH1_ENST00000271751.4_Silent_p.P196P	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	196					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GCTTGTACTGGGGAAGGATGT	0.433000													21	14					2.37509e-13	3.41948e-13	0.010504	1	0
RTP2	344892	broad.mit.edu	37	3	187416724	187416724	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:187416724G>T	ENST00000358241.1	-	2	668	c.240C>A	c.(238-240)cgC>cgA	p.R80R		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	80					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		CCCGCTGGGCGCGGTCCAGGA	0.657000													15	17					0.000219431	0.000239484	0.002450	1	0
MYH15	22989	broad.mit.edu	37	3	108182078	108182078	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:108182078T>C	ENST00000273353.3	-	17	1860	c.1804A>G	c.(1804-1806)Atc>Gtc	p.I602V		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	602	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CAACCACTGATATTATAAGGT	0.373000													51	99					0	0	0.003610	0	0
PLXNA4	91584	broad.mit.edu	37	7	131865396	131865396	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:131865396A>T	ENST00000359827.3	-	19	4550	c.3588T>A	c.(3586-3588)gaT>gaA	p.D1196E	PLXNA4_ENST00000321063.4_Missense_Mutation_p.D1196E			Q9HCM2	PLXA4_HUMAN	plexin A4	1196	IPT/TIG 4.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCAGCTGGACATCTGACACGG	0.607000													6	32					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179434970	179434970	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:179434970C>A	ENST00000589042.1	-	326	76113	c.75889G>T	c.(75889-75891)Gtt>Ttt	p.V25297F	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V23656F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V16357F|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V16232F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V22729F|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V16424F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23656	Ig-like 124.						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)			TTCTTGGCAACTACTGGCTCA	0.418000													13	53					5.50884e-06	6.39637e-06	0.001368	1	0
PRDM10	56980	broad.mit.edu	37	11	129814700	129814700	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:129814700C>G	ENST00000358825.5	-	6	959	c.728G>C	c.(727-729)gGc>gCc	p.G243A	PRDM10_ENST00000423662.2_Missense_Mutation_p.G157A|PRDM10_ENST00000304538.6_Missense_Mutation_p.G157A|PRDM10_ENST00000528746.1_Missense_Mutation_p.G217A|PRDM10_ENST00000526082.1_Missense_Mutation_p.G157A|PRDM10_ENST00000360871.3_Missense_Mutation_p.G243A	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	243	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CAGCTCCGAGCCCCTGACGAG	0.552000													23	72					0	0	0.002299	0	0
ZNF728	388523	broad.mit.edu	37	19	23159821	23159821	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:23159821A>T	ENST00000594710.1	-	4	463	c.318T>A	c.(316-318)tgT>tgA	p.C106*		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		TCTCATGTCCACATTTTTCAT	0.348000													20	20					0	0	0.007413	0	0
BDKRB2	624	broad.mit.edu	37	14	96707718	96707718	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr14:96707718C>T	ENST00000542454.2	+	3	4060	c.972C>T	c.(970-972)tgC>tgT	p.C324C	BDKRB2_ENST00000554311.1_Silent_p.C351C|BDKRB2_ENST00000306005.3_Silent_p.C351C|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000539359.1_Silent_p.C324C			P30411	BKRB2_HUMAN	bradykinin receptor B2	351					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		AGGGAGTGTGCCAGAAAGGGG	0.572000													3	33					0	0	0.001168	0	0
LDHAL6B	92483	broad.mit.edu	37	15	59499602	59499602	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr15:59499602C>A	ENST00000307144.4	+	1	561	c.463C>A	c.(463-465)Cgc>Agc	p.R155S	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	155					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	GGGAGAAACGCGCCTTAATTT	0.418000													61	39					2.30037e-20	3.87203e-20	0.003610	1	0
SYT16	83851	broad.mit.edu	37	14	62547902	62547902	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr14:62547902G>A	ENST00000430451.2	+	4	1541	c.1344G>A	c.(1342-1344)atG>atA	p.M448I		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	448	C2 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GAGAGAGAATGATGGGAGAGA	0.532000													7	20					0	0	0.001984	0	0
LRP1B	53353	broad.mit.edu	37	2	142004822	142004822	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:142004822C>G	ENST00000389484.3	-	5	1536	c.565G>C	c.(565-567)Gac>Cac	p.D189H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	189	EGF-like 2; calcium-binding (Potential).				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)		GATCTGTTGTCTGGCTGCATT	0.383000										TSP Lung(27;0.18)			13	53					0	0	0.001368	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28296872	28296872	+	Missense_Mutation	SNP	C	C	A	rs147165669		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr21:28296872C>A	ENST00000284987.5	-	8	2414	c.2293G>T	c.(2293-2295)Gcc>Tcc	p.A765S	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	765	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGGTCTTTGGCTTTGAACTGT	0.443000													59	18					4.33383e-22	7.48571e-22	0.003610	1	0
GATA4	2626	broad.mit.edu	37	8	11607676	11607676	+	Silent	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:11607676G>C	ENST00000335135.4	+	4	1398	c.840G>C	c.(838-840)acG>acC	p.T280T	GATA4_ENST00000528712.1_Silent_p.T74T|GATA4_ENST00000532059.1_Silent_p.T281T	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	280	Poly-Thr.				atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CCACCACCACGCTGTGGCGCC	0.622000													24	10					0	0	0.004656	0	0
ZNF217	7764	broad.mit.edu	37	20	52193228	52193228	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr20:52193228C>A	ENST00000371471.2	-	4	2500	c.2075G>T	c.(2074-2076)gGg>gTg	p.G692V	ZNF217_ENST00000302342.3_Missense_Mutation_p.G692V			O75362	ZN217_HUMAN	zinc finger protein 217	692					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GTGAAGAGCCCCCACGGATAA	0.423000													74	130					6.5469e-37	1.2515e-36	0.003610	1	0
KIAA1755	85449	broad.mit.edu	37	20	36869448	36869448	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr20:36869448G>T	ENST00000279024.4	-	3	1356	c.1085C>A	c.(1084-1086)aCc>aAc	p.T362N		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	362										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGAGTTGTGGGTGGGTGCTTT	0.542000													96	91					1.15966e-41	2.25459e-41	0.003610	1	0
UMOD	7369	broad.mit.edu	37	16	20348729	20348729	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr16:20348729C>A	ENST00000396134.2	-	9	1846	c.1723G>T	c.(1723-1725)Gag>Tag	p.E575*	UMOD_ENST00000396138.4_Nonsense_Mutation_p.E591*|UMOD_ENST00000570689.1_Nonsense_Mutation_p.E542*|UMOD_ENST00000302509.4_Nonsense_Mutation_p.E542*|UMOD_ENST00000396142.2_Nonsense_Mutation_p.E542*|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000424589.1_Nonsense_Mutation_p.E575*	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	542	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGGGAGGACTCCCCATTCTCC	0.473000													18	40					1.56452e-12	2.21185e-12	0.007413	1	0
CSMD3	114788	broad.mit.edu	37	8	113347650	113347650	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:113347650G>T	ENST00000297405.5	-	45	7317	c.7073C>A	c.(7072-7074)gCt>gAt	p.A2358D	CSMD3_ENST00000343508.3_Missense_Mutation_p.A2318D|CSMD3_ENST00000455883.2_Missense_Mutation_p.A2254D|CSMD3_ENST00000352409.3_Missense_Mutation_p.A2288D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2358	CUB 13.					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						TGATTCCAAAGCGGTATTGCC	0.418000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	65					3.07112e-06	3.61274e-06	0.010729	1	0
PHLDB3	653583	broad.mit.edu	37	19	43979578	43979578	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:43979578T>C	ENST00000292140.5	-	16	2267	c.1907A>G	c.(1906-1908)gAa>gGa	p.E636G		NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	636										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				GGCGTGGTTTTCGTCAGCGGC	0.672000													6	17					0	0	0.003080	0	0
PDCD6IP	10015	broad.mit.edu	37	3	33870350	33870350	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:33870350G>T	ENST00000307296.3	+	7	1100	c.723G>T	c.(721-723)gtG>gtT	p.V241V	PDCD6IP_ENST00000457054.2_Silent_p.V246V			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	241	BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TCCAGGAGGTGTTCCCTGTCT	0.448000													26	16					2.44723e-14	3.65337e-14	0.004656	1	0
ADCY2	108	broad.mit.edu	37	5	7784549	7784549	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:7784549T>C	ENST00000338316.4	+	19	2545	c.2456T>C	c.(2455-2457)gTt>gCt	p.V819A	ADCY2_ENST00000537121.1_Missense_Mutation_p.V639A	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	819					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						ACACTGCTTGTTCTGGGTAGA	0.378000													51	88					0	0	0.003610	0	0
CPS1	1373	broad.mit.edu	37	2	211502454	211502454	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:211502454A>T	ENST00000233072.5	+	22	2912	c.2716A>T	c.(2716-2718)Agg>Tgg	p.R906W	CPS1_ENST00000430249.2_Missense_Mutation_p.R912W|CPS1_ENST00000451903.2_Missense_Mutation_p.R455W|CPS1_ENST00000497121.1_3'UTR	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	906					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)		AACCCTGAAAAGGGCAAAGGA	0.413000													14	29					0	0	0.003163	0	0
CDK4	1019	broad.mit.edu	37	12	58145434	58145434	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:58145434C>A	ENST00000257904.6	-	2	432	c.67G>T	c.(67-69)Gcc>Tcc	p.A23S	CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000540325.1_5'UTR|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000312990.6_Missense_Mutation_p.A23S	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	23	Protein kinase.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GGATCACGGGCCTTGTACACT	0.552000			Mis			melanoma			Hereditary Melanoma				32	50					6.50621e-10	8.54324e-10	0.002836	1	0
TMPRSS6	164656	broad.mit.edu	37	22	37485704	37485704	+	Silent	SNP	G	G	T	rs148065950		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr22:37485704G>T	ENST00000381792.2	-	7	890	c.750C>A	c.(748-750)ctC>ctA	p.L250L	TMPRSS6_ENST00000406725.1_Silent_p.L250L|TMPRSS6_ENST00000346753.3_Silent_p.L259L|TMPRSS6_ENST00000442782.2_Silent_p.L259L|TMPRSS6_ENST00000406856.1_Silent_p.L250L			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	259	CUB 1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						ACTCCAGCCGGAGTTTGAGCA	0.677000													15	4					9.16793e-09	1.1648e-08	0.004990	1	0
BAG6	7917	broad.mit.edu	37	6	31617043	31617043	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:31617043C>A	ENST00000404765.2	-	4	645	c.356G>T	c.(355-357)gGg>gTg	p.G119V	BAG6_ENST00000211379.5_Missense_Mutation_p.G119V|BAG6_ENST00000375964.6_Missense_Mutation_p.G119V|BAG6_ENST00000375976.4_Missense_Mutation_p.G119V|BAG6_ENST00000439687.2_Missense_Mutation_p.G119V|BAG6_ENST00000362049.6_Missense_Mutation_p.G119V			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	119					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GGCCCCAGGCCCCCGAGTACC	0.587000													99	12					2.35538e-29	4.34361e-29	0.003610	1	0
PROSC	11212	broad.mit.edu	37	8	37632908	37632908	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:37632908A>T	ENST00000328195.3	+	6	573	c.506A>T	c.(505-507)aAc>aTc	p.N169I		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	169							pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)	GAGCACATAAACGCCAAGTGT	0.478000													95	30					0	0	0.003610	0	0
TRAT1	50852	broad.mit.edu	37	3	108572490	108572490	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:108572490C>A	ENST00000295756.6	+	6	557	c.327C>A	c.(325-327)tgC>tgA	p.C109*	TRAT1_ENST00000426646.1_Nonsense_Mutation_p.C72*	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	109					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						CACAGATGTGCTACGCCTCAC	0.413000													18	83					1.00905e-13	1.47476e-13	0.008871	1	0
XIST	7503	broad.mit.edu	37	X	73071574	73071574	+	RNA	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chrX:73071574C>A	ENST00000429829.1	-	0	1014					NR_001564.2																						TCTGCCTGACCTGCTATCATC	0.473000													31	9					3.80469e-20	6.36994e-20	0.009535	1	0
PCDHA1	56147	broad.mit.edu	37	5	140166961	140166961	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:140166961C>T	ENST00000504120.2	+	1	1086	c.1086C>T	c.(1084-1086)gaC>gaT	p.D362D	PCDHA1_ENST00000394633.3_Silent_p.D362D|PCDHA1_ENST00000378133.3_Silent_p.D362D	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGAGAGGACGCTCCACTCA	0.517000													31	9					0	0	0.008361	0	0
MEGF10	84466	broad.mit.edu	37	5	126781278	126781278	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:126781278C>A	ENST00000274473.6	+	21	2888	c.2621C>A	c.(2620-2622)gCa>gAa	p.A874E	MEGF10_ENST00000503335.2_Missense_Mutation_p.A874E|MEGF10_ENST00000510828.1_Intron	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	874					cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TTCCTACTGGCATTGTTCATT	0.473000													27	12					3.28513e-13	4.68663e-13	0.003954	1	0
FAM3C	10447	broad.mit.edu	37	7	120991232	120991232	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:120991232C>A	ENST00000359943.3	-	9	772	c.559G>T	c.(559-561)Ggg>Tgg	p.G187W		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	187					multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity			kidney(1)|lung(8)	9	all_neural(327;0.117)					ATGCCCTTCCCACCACAGAAG	0.418000													16	23					5.03518e-11	6.78938e-11	0.007413	1	0
IL16	3603	broad.mit.edu	37	15	81592382	81592382	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr15:81592382C>A	ENST00000394660.2	+	14	3075	c.2715C>A	c.(2713-2715)tcC>tcA	p.S905S	IL16_ENST00000302987.4_Silent_p.S905S|IL16_ENST00000394652.2_Silent_p.S204S|IL16_ENST00000560230.1_3'UTR	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	905					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AAGTACTGTCCTCGGGGTCCC	0.642000													31	54					7.01153e-11	9.4037e-11	0.007291	1	0
TTN	7273	broad.mit.edu	37	2	179606386	179606386	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:179606386C>A	ENST00000589042.1	-	48	11798	c.11574G>T	c.(11572-11574)gtG>gtT	p.V3858V	TTN_ENST00000591111.1_Silent_p.V3541V|TTN_ENST00000359218.5_Silent_p.V3620V|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Silent_p.V3495V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Silent_p.V3687V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3541							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)			GGGTTAATAGCACTCCATTAA	0.413000													13	85					4.93089e-13	7.02652e-13	0.002450	1	0
OR4K2	390431	broad.mit.edu	37	14	20344870	20344870	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr14:20344870C>A	ENST00000298642.2	+	1	480	c.444C>A	c.(442-444)tcC>tcA	p.S148S		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGTGGCTTCCTGGATTATGG	0.468000													38	84					9.8876e-21	1.67329e-20	0.004878	1	0
SETBP1	26040	broad.mit.edu	37	18	42531800	42531800	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr18:42531800C>T	ENST00000282030.5	+	4	2791	c.2495C>T	c.(2494-2496)cCc>cTc	p.P832L		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	832						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)		CTGTCTCCACCCAGACTGATG	0.517000									Schinzel-Giedion syndrome				26	44					0	0	0.003954	0	0
NOV	4856	broad.mit.edu	37	8	120430298	120430298	+	Splice_Site	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:120430298C>A	ENST00000259526.3	+	3	538	c.310_splice	c.e3-1	p.A104_splice		NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	nephroblastoma overexpressed	104	IGFBP N-terminal.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AATATTCTAGCGGTAGAGGGA	0.458000													103	53					3.27315e-48	6.41332e-48	0.003610	1	0
C8orf34	116328	broad.mit.edu	37	8	69434070	69434070	+	Missense_Mutation	SNP	C	C	T	rs138458632		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:69434070C>T	ENST00000337103.4	+	5	2061	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	C8orf34_ENST00000348340.2_Missense_Mutation_p.R182C|C8orf34_ENST00000518698.1_Missense_Mutation_p.R268C|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000539993.1_Missense_Mutation_p.R182C			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	182					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TCTGAGGCCCCGTGTGATTGG	0.408000													9	77					0	0	0.004482	0	0
APBA2	321	broad.mit.edu	37	15	29385416	29385416	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr15:29385416G>C	ENST00000558402.1	+	8	1807	c.1208G>C	c.(1207-1209)cGg>cCg	p.R403P	APBA2_ENST00000558259.1_Missense_Mutation_p.R403P|APBA2_ENST00000558330.1_Missense_Mutation_p.R403P|APBA2_ENST00000411764.1_Missense_Mutation_p.R403P|APBA2_ENST00000561069.1_Missense_Mutation_p.R403P			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	403	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GCCGTCAGCCGGGTCAAGGTA	0.597000													4	37					0	0	0.009096	0	0
LOC647264	647264	broad.mit.edu	37	13	64321049	64321049	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr13:64321049G>T	ENST00000453638.2	+	1	116	c.116G>T	c.(115-117)gGc>gTc	p.G39V																	endometrium(2)|lung(1)|urinary_tract(1)	4						tatggaactggctacagctgt	0.552000													9	46					0.000274275	0.000296245	0.004482	1	0
METAP1D	254042	broad.mit.edu	37	2	172942622	172942622	+	Splice_Site	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:172942622G>T	ENST00000315796.4	+	7	1189	c.802_splice	c.e7+1	p.A268_splice	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	268					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						TTGGCATCATGGTAAGAAAGT	0.408000													20	26					2.32416e-17	3.74133e-17	0.002299	1	0
AKAP10	11216	broad.mit.edu	37	17	19827722	19827722	+	Splice_Site	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:19827722C>T	ENST00000225737.6	-	11	1907	c.1751_splice	c.e11+1	p.G584_splice	AKAP10_ENST00000395536.3_Splice_Site_p.G526_splice	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	584					blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					TAAGCTTACCCGGCATATGTC	0.289000													5	17					0	0	0.000602	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763592	77763592	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:77763592G>T	ENST00000521891.2	+	10	4883	c.4435G>T	c.(4435-4437)Gat>Tat	p.D1479Y	ZFHX4_ENST00000050961.6_Missense_Mutation_p.D1434Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D1434Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D1453Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1434						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)			TATGTCCCAGGATGACCATGG	0.507000										HNSCC(33;0.089)			50	20					3.39706e-21	5.79579e-21	0.003610	1	0
KIF26B	55083	broad.mit.edu	37	1	245319810	245319810	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:245319810C>T	ENST00000407071.2	+	2	730	c.290C>T	c.(289-291)cCg>cTg	p.P97L		NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	97	Gly-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ACTAGTTCGCCGGGCTCCTTG	0.781000													4	2					0	0	0.009096	0	0
NPAP1	23742	broad.mit.edu	37	15	24924112	24924112	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr15:24924112C>G	ENST00000329468.2	+	1	3572	c.3098C>G	c.(3097-3099)tCa>tGa	p.S1033*		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		AGTTCCACATCAGGAGAACTC	0.547000													15	30					0	0	0.003163	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187692726	187692726	+	Silent	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:187692726T>C	ENST00000295131.2	-	9	1926	c.1887A>G	c.(1885-1887)gaA>gaG	p.E629E		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	629					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ATTGAACTCCTTCTATTATTA	0.294000													7	19					0	0	0.003080	0	0
LRP1B	53353	broad.mit.edu	37	2	141243066	141243066	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:141243066C>A	ENST00000389484.3	-	59	10242	c.9271G>T	c.(9271-9273)Gca>Tca	p.A3091S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3091					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)		ACAGCAAGTGCATTGGGGACC	0.368000										TSP Lung(27;0.18)			14	28					2.23348e-06	2.64725e-06	0.004007	1	0
SPATA31E1	286234	broad.mit.edu	37	9	90502201	90502201	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr9:90502201C>A	ENST00000325643.5	+	4	2865	c.2799C>A	c.(2797-2799)ccC>ccA	p.P933P		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		TCCAGAGGCCCCCGAGAGGGT	0.622000													25	12					2.48779e-11	3.38362e-11	0.005443	1	0
TTN	7273	broad.mit.edu	37	2	179611185	179611185	+	Silent	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:179611185A>T	ENST00000360870.5	-	46	16164	c.15942T>A	c.(15940-15942)gtT>gtA	p.V5314V	TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8826	Ig-like 33.						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)			CACTTAATTCAACTTCCAGGA	0.393000													17	35					0	0	0.004990	0	0
LRP2	4036	broad.mit.edu	37	2	170038695	170038695	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:170038695G>T	ENST00000263816.3	-	51	10265	c.9980C>A	c.(9979-9981)gCc>gAc	p.A3327D	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3327					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)	AGGGTGAAGGGCAAGTCCTCT	0.507000													18	57					1.99824e-07	2.45907e-07	0.004990	1	0
R3HDML	140902	broad.mit.edu	37	20	42979383	42979383	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr20:42979383G>A	ENST00000217043.2	+	5	885	c.713G>A	c.(712-714)aGc>aAc	p.S238N	RP5-881L22.5_ENST00000430481.1_RNA|RP5-881L22.5_ENST00000438702.1_RNA	NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	238						extracellular region	peptidase inhibitor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			AGCTGCAATAGCAACATGTGC	0.552000													31	74					0	0	0.012213	0	0
NRXN1	9378	broad.mit.edu	37	2	50699460	50699460	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:50699460C>A	ENST00000404971.1	-	17	4679	c.3340G>T	c.(3340-3342)Gga>Tga	p.G1114*	NRXN1_ENST00000402717.3_Nonsense_Mutation_p.G1066*|NRXN1_ENST00000401710.1_Nonsense_Mutation_p.G83*|NRXN1_ENST00000406316.2_Nonsense_Mutation_p.G1074*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.G1066*|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.G1074*|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.G1074*	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1074	EGF-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.G1115R(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCGATCTGTCCGTTGCAGAAA	0.433000													6	26					0.00116845	0.00123857	0.001168	1	0
SALL3	27164	broad.mit.edu	37	18	76754795	76754795	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr18:76754795C>A	ENST00000536229.3	+	1	3114	c.2405C>A	c.(2404-2406)aCc>aAc	p.T802N	SALL3_ENST00000575389.2_Missense_Mutation_p.T935N|SALL3_ENST00000537592.2_Missense_Mutation_p.T935N			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	969				DDDMDE -> NDNLDK (in Ref. 2; CAB65124).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCGCTCAAGACCGAGAGGCCG	0.741000													8	1					5.18039e-06	6.05425e-06	0.003080	1	0
LSAMP	4045	broad.mit.edu	37	3	115560705	115560705	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:115560705G>T	ENST00000490035.1	-	6	1405	c.906C>A	c.(904-906)agC>agA	p.S302R	LSAMP_ENST00000539563.1_Missense_Mutation_p.S299R	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	302	Ig-like C2-type 3.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		AAAGGACTAGGCTGGCATTGG	0.493000													27	63					2.65835e-16	4.18264e-16	0.007291	1	0
MYH7	4625	broad.mit.edu	37	14	23887530	23887530	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr14:23887530G>T	ENST00000355349.3	-	30	4220	c.4058C>A	c.(4057-4059)gCc>gAc	p.A1353D		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1353					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTCGGCCTTGGCCTCCGTCTC	0.672000													18	46					1.99824e-07	2.45907e-07	0.004990	1	0
CEP350	9857	broad.mit.edu	37	1	179982981	179982981	+	Splice_Site	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:179982981G>C	ENST00000367607.3	+	10	1811		c.e10-1			NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa							centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ATACTTTGCAGGGGGTCACAT	0.358000													7	44					0	0	0.003080	0	0
ADARB2	105	broad.mit.edu	37	10	1262988	1262988	+	Missense_Mutation	SNP	T	T	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:1262988T>G	ENST00000381312.1	-	7	1910	c.1585A>C	c.(1585-1587)Acg>Ccg	p.T529P	ADARB2_ENST00000469464.1_5'UTR	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	529	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		ACGGGGACCGTCCCTTCCCCG	0.652000													5	2					0	0	0.000602	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113672953	113672953	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:113672953A>T	ENST00000330212.3	+	3	867	c.568A>T	c.(568-570)Aag>Tag	p.K190*	ZDHHC23_ENST00000498275.1_Nonsense_Mutation_p.K184*	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	190						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						CAGAGCCAAGAAGAATCCAGG	0.557000													26	156					0	0	0.004656	0	0
EPB41L2	2037	broad.mit.edu	37	6	131211455	131211455	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:131211455C>A	ENST00000337057.3	-	11	1820	c.1639G>T	c.(1639-1641)Gtc>Ttc	p.V547F	EPB41L2_ENST00000528282.1_Missense_Mutation_p.V547F|EPB41L2_ENST00000527659.1_Missense_Mutation_p.V547F|EPB41L2_ENST00000525271.1_Missense_Mutation_p.V547F|EPB41L2_ENST00000527411.1_Missense_Mutation_p.V547F|EPB41L2_ENST00000392427.3_Missense_Mutation_p.V547F|EPB41L2_ENST00000368128.2_Missense_Mutation_p.V547F|EPB41L2_ENST00000445890.2_Missense_Mutation_p.V547F|EPB41L2_ENST00000530481.1_Missense_Mutation_p.V547F|EPB41L2_ENST00000529208.1_Missense_Mutation_p.V547F|EPB41L2_ENST00000525193.1_Missense_Mutation_p.V547F	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	547	Hydrophilic.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTCCTGGAGACCCGTTTACTA	0.448000													64	19					3.07184e-27	5.60712e-27	0.003610	1	0
PPAN	56342	broad.mit.edu	37	19	10221814	10221814	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:10221814G>T	ENST00000253107.7	+	12	1501	c.1395G>T	c.(1393-1395)cgG>cgT	p.R465R	PPAN-P2RY11_ENST00000393796.4_Intron|PPAN-P2RY11_ENST00000428358.1_Intron|PPAN_ENST00000393793.1_Silent_p.R412R|PPAN_ENST00000556468.1_Intron	NM_020230.5	NP_064615.3			peter pan homolog (Drosophila)											endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GCCGGGGCCGGGGCCGCCCAG	0.701000													9	1					7.48243e-07	9.03947e-07	0.006214	1	0
EPRS	2058	broad.mit.edu	37	1	220151953	220151953	+	Missense_Mutation	SNP	G	G	A	rs143796513		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:220151953G>A	ENST00000366923.3	-	28	4287	c.4018C>T	c.(4018-4020)Cgc>Tgc	p.R1340C		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1340	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	GCTCTAACGCGGATGTTAACA	0.393000													21	15					0	0	0.010504	0	0
IFT43	112752	broad.mit.edu	37	14	76549611	76549611	+	Silent	SNP	G	G	T	rs143729954		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr14:76549611G>T	ENST00000314067.6	+	8	520	c.486G>T	c.(484-486)gcG>gcT	p.A162A	IFT43_ENST00000238628.6_Silent_p.A167A	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43 homolog (Chlamydomonas)	162					cilium morphogenesis|intraflagellar retrograde transport					endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						AAGTGCTCGCGCCGGAGCACG	0.582000													5	26					0.000602214	0.000644899	0.000602	1	0
LCLAT1	253558	broad.mit.edu	37	2	30785036	30785036	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:30785036A>T	ENST00000309052.4	+	5	712	c.503A>T	c.(502-504)tAt>tTt	p.Y168F	LCLAT1_ENST00000379509.3_Missense_Mutation_p.Y130F|LCLAT1_ENST00000359433.1_Missense_Mutation_p.Y168F|LCLAT1_ENST00000540623.1_Missense_Mutation_p.Y130F|LCLAT1_ENST00000319406.4_Missense_Mutation_p.Y168F|LCLAT1_ENST00000491680.2_3'UTR	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	168					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						GCTGCTGCCTATATCTTCATT	0.333000													14	18					0	0	0.002450	0	0
GPD2	2820	broad.mit.edu	37	2	157427724	157427724	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:157427724G>T	ENST00000310454.6	+	13	2059	c.1687G>T	c.(1687-1689)Gtc>Ttc	p.V563F	GPD2_ENST00000540309.1_Intron|GPD2_ENST00000438166.2_Missense_Mutation_p.V563F|GPD2_ENST00000409674.1_Missense_Mutation_p.V563F|GPD2_ENST00000409125.4_Missense_Mutation_p.V336F	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	563					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						CTTTCTAAATGTCCAGGCAGC	0.423000													21	75					0.000375601	0.000405339	0.002780	1	0
GATA3	2625	broad.mit.edu	37	10	8100408	8100408	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:8100408G>T	ENST00000379328.3	+	3	950	c.382G>T	c.(382-384)Ggg>Tgg	p.G128W	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Missense_Mutation_p.G128W	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	128					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CGGCTCCCCGGGGCCCCTCTC	0.716000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						19	11					8.28177e-16	1.28691e-15	0.007413	1	0
NAV2	89797	broad.mit.edu	37	11	20066722	20066722	+	Silent	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:20066722A>T	ENST00000396085.1	+	14	3769	c.3408A>T	c.(3406-3408)acA>acT	p.T1136T	NAV2_ENST00000533917.1_Silent_p.T222T|NAV2_ENST00000311043.8_Silent_p.T222T|NAV2_ENST00000396087.3_Silent_p.T1159T|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000540292.1_Silent_p.T1090T|NAV2_ENST00000349880.4_Silent_p.T1136T|NAV2_ENST00000527559.2_Silent_p.T1088T|NAV2_ENST00000360655.4_Silent_p.T1072T	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1159						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCATGATCACAGCCAGCGGGG	0.582000													15	42					0	0	0.004007	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65208183	65208183	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr14:65208183G>T	ENST00000247226.7	+	14	2088	c.1780G>T	c.(1780-1782)Ggc>Tgc	p.G594C	PLEKHG3_ENST00000394691.1_Missense_Mutation_p.G650C|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.G183C|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.G155C	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	650					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CAGCGAGAAGGGCCTGGCCCG	0.662000													11	42					3.86212e-05	4.32419e-05	0.008291	1	0
ADAD1	132612	broad.mit.edu	37	4	123350835	123350835	+	Missense_Mutation	SNP	C	C	A	rs55924141		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr4:123350835C>A	ENST00000296513.2	+	13	1857	c.1672C>A	c.(1672-1674)Caa>Aaa	p.Q558K	ADAD1_ENST00000388724.2_Missense_Mutation_p.Q547K|ADAD1_ENST00000388725.2_Missense_Mutation_p.Q540K	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	558	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTACTTACAACAACATGGCTA	0.333000													33	6					2.09667e-21	3.59674e-21	0.003755	1	0
HOXD10	3236	broad.mit.edu	37	2	176981685	176981685	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:176981685G>T	ENST00000249501.4	+	1	379	c.124G>T	c.(124-126)Gac>Tac	p.D42Y	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	42						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		ACCTAGCGCAGACATGGGGAC	0.468000													25	97					2.24059e-21	3.83316e-21	0.006320	1	0
ANO4	121601	broad.mit.edu	37	12	101488070	101488070	+	Splice_Site	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:101488070G>C	ENST00000392979.3	+	17	1994	c.1633_splice	c.e17+1	p.E545_splice	ANO4_ENST00000299222.9_Splice_Site_p.E100_splice|ANO4_ENST00000550015.1_Splice_Site_p.E100_splice|ANO4_ENST00000392977.3_Splice_Site_p.E580_splice	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	580						chloride channel complex	chloride channel activity	p.E545*(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GACGAATTTAGGTGAGTGGAA	0.338000										HNSCC(74;0.22)			14	29					0	0	0.003163	0	0
MEGF10	84466	broad.mit.edu	37	5	126738321	126738321	+	Silent	SNP	G	G	T	rs139531628		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:126738321G>T	ENST00000274473.6	+	9	1131	c.864G>T	c.(862-864)acG>acT	p.T288T	MEGF10_ENST00000418761.2_Silent_p.T288T|MEGF10_ENST00000503335.2_Silent_p.T288T|MEGF10_ENST00000508365.1_Silent_p.T288T	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	288	EGF-like 5.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ATGGAGGGACGTGTGATGCTG	0.502000													28	14					2.12542e-12	2.99469e-12	0.006320	1	0
ZFAT	57623	broad.mit.edu	37	8	135614601	135614601	+	Missense_Mutation	SNP	T	T	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:135614601T>G	ENST00000520727.1	-	7	1624	c.1325A>C	c.(1324-1326)cAc>cCc	p.H442P	ZFAT_ENST00000377838.3_Missense_Mutation_p.H454P|ZFAT_ENST00000520356.1_Missense_Mutation_p.H442P|ZFAT_ENST00000520214.1_Missense_Mutation_p.H442P|ZFAT_ENST00000429442.2_Missense_Mutation_p.H442P|ZFAT_ENST00000523399.1_Missense_Mutation_p.H392P	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CACGAAGGGGTGCTTCCTGAC	0.617000													71	18					0	0	0.003610	0	0
CHERP	10523	broad.mit.edu	37	19	16641581	16641581	+	Splice_Site	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:16641581C>A	ENST00000546361.2	-	6	936	c.786_splice	c.e6+1	p.R262_splice	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Splice_Site_p.R273_splice	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	262	CID.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						CCCACGCACCCGGGCGATCTT	0.692000													24	9					2.70639e-06	3.1987e-06	0.002299	1	0
STK4	6789	broad.mit.edu	37	20	43629116	43629116	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr20:43629116G>C	ENST00000372806.3	+	8	1010	c.915G>C	c.(913-915)caG>caC	p.Q305H	STK4_ENST00000372801.1_Missense_Mutation_p.Q305H|STK4_ENST00000396731.4_Missense_Mutation_p.Q305H|STK4_ENST00000499879.2_Missense_Mutation_p.Q250H	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	305					apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				TGAAACGCCAGGAATCCCAGC	0.463000													3	17					0	0	0.004672	0	0
CEP350	9857	broad.mit.edu	37	1	179982980	179982980	+	Splice_Site	SNP	A	A	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:179982980A>C	ENST00000367607.3	+	10	1811		c.e10-1			NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa							centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CATACTTTGCAGGGGGTCACA	0.358000													7	44					0	0	0.003080	0	0
KIAA1551	55196	broad.mit.edu	37	12	32138088	32138088	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:32138088G>A	ENST00000312561.4	+	4	4613	c.4199G>A	c.(4198-4200)aGt>aAt	p.S1400N	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		CAGAAAGGAAGTGTGGGAGCT	0.348000													25	10					0	0	0.003330	0	0
USP30	84749	broad.mit.edu	37	12	109520514	109520514	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:109520514G>T	ENST00000257548.5	+	10	1007	c.914G>T	c.(913-915)aGg>aTg	p.R305M	USP30_ENST00000392784.2_Missense_Mutation_p.R274M	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	305					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						GAACACCAGAGGACCACTTTT	0.458000													7	32					5.4927e-09	7.02125e-09	0.004482	1	0
ENPP1	5167	broad.mit.edu	37	6	132173314	132173314	+	Splice_Site	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:132173314G>A	ENST00000360971.2	+	5	576		c.e5-1			NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	AAATATTTTAGGTGAGAAAAG	0.318000													12	10					0	0	0.001855	0	0
VPS51	738	broad.mit.edu	37	11	64878981	64878981	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:64878981G>A	ENST00000279281.3	+	10	2363	c.2271G>A	c.(2269-2271)gtG>gtA	p.V757V	VPS51_ENST00000527646.1_3'UTR|AP003068.9_ENST00000528887.1_RNA	NM_013265.2	NP_037397.2			vacuolar protein sorting 51 homolog (S. cerevisiae)																		ACGAAGTGGTGGCCTCTGCTG	0.642000													10	33					0	0	0.008291	0	0
ZNF724P	440519	broad.mit.edu	37	19	23414142	23414142	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:23414142T>A	ENST00000418100.1	-	3	269	c.152A>T	c.(151-153)gAc>gTc	p.D51V	ZNF724P_ENST00000597037.1_Missense_Mutation_p.D51V																endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						GGTGATCAGGTCTGGCTTAGA	0.398000													23	117					0	0	0.003330	0	0
MAP3K9	4293	broad.mit.edu	37	14	71205044	71205044	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr14:71205044C>A	ENST00000554752.2	-	8	1761	c.1762G>T	c.(1762-1764)Gag>Tag	p.E588*	MAP3K9_ENST00000381250.4_Nonsense_Mutation_p.E588*|MAP3K9_ENST00000555993.2_Nonsense_Mutation_p.E588*|MAP3K9_ENST00000553414.1_Nonsense_Mutation_p.E330*|MAP3K9_ENST00000554146.1_Nonsense_Mutation_p.E325*			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	588					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCCTCTTCTCCTCCTCCTCC	0.572000													16	53					8.60227e-14	1.26611e-13	0.004007	1	0
XIRP2	129446	broad.mit.edu	37	2	168100000	168100000	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:168100000C>A	ENST00000409195.1	+	9	2187	c.2098C>A	c.(2098-2100)Cat>Aat	p.H700N	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.H700N|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.H478N|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	525					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						TGAAACTCAACATCTAGATCA	0.383000													9	32					3.09899e-07	3.80247e-07	0.004482	1	0
CSMD3	114788	broad.mit.edu	37	8	113256691	113256691	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:113256691G>T	ENST00000297405.5	-	65	10578	c.10334C>A	c.(10333-10335)gCa>gAa	p.A3445E	CSMD3_ENST00000343508.3_Missense_Mutation_p.A3405E|CSMD3_ENST00000455883.2_Missense_Mutation_p.A3276E|CSMD3_ENST00000352409.3_Missense_Mutation_p.A3375E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3445	Sushi 28.					integral to membrane|plasma membrane		p.A3445V(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						TGTTCCACCTGCTAAGAAGAA	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			29	80					5.91797e-21	1.00831e-20	0.012213	1	0
MRGPRD	116512	broad.mit.edu	37	11	68748244	68748244	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:68748244G>T	ENST00000309106.3	-	1	211	c.212C>A	c.(211-213)gCc>gAc	p.A71D		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	71						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GAGGAGGTCGGCTGCCGCCAG	0.577000													33	35					3.90053e-15	5.94321e-15	0.012213	1	0
VIL1	7429	broad.mit.edu	37	2	219297606	219297606	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:219297606C>A	ENST00000248444.5	+	13	1520	c.1432C>A	c.(1432-1434)Cgg>Agg	p.R478R	VIL1_ENST00000392114.2_Silent_p.R167R	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	478	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGTCCAGATCCGGGTCCCAAT	0.542000													12	34					0.00185496	0.00196131	0.001855	1	0
SLC14A1	6563	broad.mit.edu	37	18	43319536	43319536	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr18:43319536C>G	ENST00000589700.1	+	5	707	c.707C>G	c.(706-708)tCt>tGt	p.S236C	RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000402943.2_Silent_p.L180L|SLC14A1_ENST00000502059.2_Silent_p.L177L|SLC14A1_ENST00000436407.3_Silent_p.L341L|SLC14A1_ENST00000321925.4_Silent_p.L285L|SLC14A1_ENST00000535474.1_Silent_p.L153L|SLC14A1_ENST00000586142.1_Silent_p.L285L|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000415427.3_Silent_p.L341L|SLC14A1_ENST00000591541.1_5'UTR			Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	0						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						ACTTTGGACTCTGGGGTTTCA	0.527000													37	45					0	0	0.003271	0	0
BCO2	83875	broad.mit.edu	37	11	112071445	112071445	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:112071445G>C	ENST00000357685.5	+	7	1110	c.975G>C	c.(973-975)tgG>tgC	p.W325C	BCO2_ENST00000531169.1_Missense_Mutation_p.W291C|BCO2_ENST00000532593.1_Missense_Mutation_p.W220C|BCO2_ENST00000438022.1_Missense_Mutation_p.W291C|BCO2_ENST00000526088.1_Missense_Mutation_p.W291C|BCO2_ENST00000393032.2_Missense_Mutation_p.W291C|BCO2_ENST00000361053.4_Missense_Mutation_p.W252C			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	325					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						GGATAAGCTGGGAACCCCAGT	0.398000													37	32					0	0	0.007835	0	0
CPS1	1373	broad.mit.edu	37	2	211502455	211502455	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:211502455G>T	ENST00000233072.5	+	22	2913	c.2717G>T	c.(2716-2718)aGg>aTg	p.R906M	CPS1_ENST00000430249.2_Missense_Mutation_p.R912M|CPS1_ENST00000451903.2_Missense_Mutation_p.R455M|CPS1_ENST00000497121.1_3'UTR	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	906					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)		ACCCTGAAAAGGGCAAAGGAG	0.408000													15	29					1.15088e-07	1.42187e-07	0.004007	1	0
SSPO	23145	broad.mit.edu	37	7	149531024	149531024	+	RNA	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:149531024C>A	ENST00000378016.2	+	0	15553							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACTGGGGGCCCATGACTTGGC	0.582000													6	12					5.9392e-07	7.22382e-07	0.001168	1	0
ZC3H13	23091	broad.mit.edu	37	13	46584576	46584576	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr13:46584576G>C	ENST00000242848.4	-	7	1001	c.653C>G	c.(652-654)tCt>tGt	p.S218C	ZC3H13_ENST00000470308.1_5'UTR|ZC3H13_ENST00000282007.3_Missense_Mutation_p.S218C			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	218	Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCGCTTCGGAGATTTGCTAGA	0.423000													44	6					0	0	0.011902	0	0
SEC24B	10427	broad.mit.edu	37	4	110433128	110433128	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr4:110433128A>G	ENST00000265175.5	+	9	1847	c.1792A>G	c.(1792-1794)Aca>Gca	p.T598A	SEC24B_ENST00000399100.2_Missense_Mutation_p.T563A|SEC24B_ENST00000504968.2_Missense_Mutation_p.T628A	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	598					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)		ACCAGTGATAACATCAAATAC	0.388000													16	19					0	0	0.004990	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895680	24895680	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr13:24895680C>A	ENST00000382071.2	+	4	861	c.776C>A	c.(775-777)tCc>tAc	p.S259Y	C1QTNF9_ENST00000332018.4_Missense_Mutation_p.S259Y|C1QTNF9-AS1_ENST00000449656.1_RNA			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	259	C1q.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		ACTGTTTTCTCCAGAAATGTT	0.448000													27	12					2.09667e-21	3.59674e-21	0.003755	1	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643060	1643060	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:1643060C>T	ENST00000399682.1	-	1	308	c.264G>A	c.(262-264)aaG>aaA	p.K88K		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	88	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CACAGCCCCCCTTGGAACCCC	0.672000													27	85					0	0	0.005443	0	0
ADCY2	108	broad.mit.edu	37	5	7802380	7802380	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:7802380T>C	ENST00000338316.4	+	21	2767	c.2678T>C	c.(2677-2679)aTt>aCt	p.I893T	ADCY2_ENST00000537121.1_Missense_Mutation_p.I713T	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	893					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						TTTGCCTCCATTCCGGATTTC	0.468000													14	81					0	0	0.001855	0	0
TDRD7	23424	broad.mit.edu	37	9	100194369	100194369	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr9:100194369C>A	ENST00000355295.4	+	4	707	c.412C>A	c.(412-414)Cct>Act	p.P138T	TDRD7_ENST00000422139.2_Missense_Mutation_p.P64T	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	138					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				TGGCAAAAAACCTAATCCAGC	0.388000													27	48					2.44723e-14	3.65337e-14	0.004656	1	0
CLRN2	645104	broad.mit.edu	37	4	17516915	17516915	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr4:17516915G>T	ENST00000511148.2	+	1	128	c.26G>T	c.(25-27)tGg>tTg	p.W9L		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	9						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						AAAAAGGCGTGGTATGGGCTG	0.537000													7	36					0.000157383	0.000171915	0.003080	1	0
OR10A5	144124	broad.mit.edu	37	11	6866971	6866971	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:6866971C>A	ENST00000299454.4	+	1	89	c.58C>A	c.(58-60)Cta>Ata	p.L20I	OR10A5_ENST00000379831.2_Missense_Mutation_p.L24I			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTTCTCTTCCCTACCTACTGA	0.418000													28	68					1.16021e-09	1.50923e-09	0.007291	1	0
MDM2	4193	broad.mit.edu	37	12	69210673	69210673	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:69210673G>T	ENST00000462284.1	+	4	558	c.256G>T	c.(256-258)Gat>Tat	p.D86Y	MDM2_ENST00000258148.7_Missense_Mutation_p.D86Y|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000350057.5_Missense_Mutation_p.D55Y|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000299252.4_Intron|MDM2_ENST00000258149.5_Missense_Mutation_p.D80Y|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000393410.1_Intron	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	80	Necessary for interaction with USP2.|SWIB.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TTGTTCAAATGATCTTCTAGG	0.338000			A		"""sarcoma, glioma, colorectal, other"""								20	22					1.55795e-14	2.33692e-14	0.012319	1	0
PDZRN3	23024	broad.mit.edu	37	3	73433800	73433800	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:73433800C>T	ENST00000263666.4	-	10	2031	c.1917G>A	c.(1915-1917)ccG>ccA	p.P639P	PDZRN3_ENST00000479530.1_Silent_p.P356P|PDZRN3_ENST00000462146.2_Silent_p.P296P|PDZRN3_ENST00000535920.1_Silent_p.P361P|PDZRN3_ENST00000466780.1_Silent_p.P296P	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	639							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		ACTCGTCCACCGGGATCCCCA	0.657000													50	110					0	0	0.003610	0	0
PELP1	27043	broad.mit.edu	37	17	4594689	4594689	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:4594689T>A	ENST00000301396.4	-	2	523	c.298A>T	c.(298-300)Agt>Tgt	p.S100C	PELP1_ENST00000574876.1_Missense_Mutation_p.S100C|PELP1_ENST00000572293.1_Missense_Mutation_p.S150C|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000436683.2_5'UTR|PELP1_ENST00000269230.7_Missense_Mutation_p.S100C|PELP1_ENST00000570823.1_5'UTR			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	100					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						TTGATGGAACTGAGACGTGCA	0.463000													54	10					0	0	0.003610	0	0
GTF3C1	2975	broad.mit.edu	37	16	27509014	27509014	+	Missense_Mutation	SNP	T	T	A	rs146349254	byFrequency	TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr16:27509014T>A	ENST00000356183.4	-	14	2309	c.2294A>T	c.(2293-2295)aAa>aTa	p.K765I	GTF3C1_ENST00000561623.1_Missense_Mutation_p.K765I	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	765						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ATCACTTTTTTTCATCCGTCC	0.443000													16	55					0	0	0.004007	0	0
KEL	3792	broad.mit.edu	37	7	142640966	142640966	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:142640966T>A	ENST00000355265.2	-	14	1970	c.1496A>T	c.(1495-1497)cAg>cTg	p.Q499L		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	499					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CGATCCAAGCTGTATCTGGGG	0.542000													12	9					0	0	0.001855	0	0
CYP26C1	340665	broad.mit.edu	37	10	94828077	94828077	+	Splice_Site	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:94828077G>T	ENST00000285949.5	+	6	1192	c.1191_splice	c.e6-1	p.G398_splice		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	398					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				CTCTCTGCAGGGCTACCAGAT	0.632000													14	54					1.5739e-10	2.09075e-10	0.004007	1	0
GOLGA6A	342096	broad.mit.edu	37	15	74368284	74368284	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr15:74368284G>T	ENST00000290438.3	-	8	647	c.607C>A	c.(607-609)Cag>Aag	p.Q203K		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	203										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						TTTATGGTCTGCTGTAACCAC	0.577000													16	126					0.00400662	0.00422211	0.004007	1	0
MKL2	57496	broad.mit.edu	37	16	14352005	14352005	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr16:14352005C>A	ENST00000571589.1	+	16	2923	c.2751C>A	c.(2749-2751)ctC>ctA	p.L917L	MKL2_ENST00000574045.1_Silent_p.L867L|MKL2_ENST00000318282.5_Silent_p.L867L|MKL2_ENST00000341243.5_Silent_p.L906L	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	906					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTGATATCCTCATTAAGAGTG	0.393000													9	25					0.000274275	0.000296245	0.004482	1	0
TMTC2	160335	broad.mit.edu	37	12	83290354	83290354	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:83290354C>T	ENST00000549919.1	+	4	3199	c.1394C>T	c.(1393-1395)gCg>gTg	p.A465V	TMTC2_ENST00000548305.1_Missense_Mutation_p.A471V|TMTC2_ENST00000321196.3_Missense_Mutation_p.A471V			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	471						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CTCAAGACTGCGATCAGGAAT	0.388000													13	30					0	0	0.001368	0	0
PAX5	5079	broad.mit.edu	37	9	36882063	36882063	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr9:36882063G>T	ENST00000358127.4	-	8	1024	c.950C>A	c.(949-951)cCa>cAa	p.P317Q	PAX5_ENST00000414447.1_Missense_Mutation_p.P274Q|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000377852.2_Intron|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000377853.2_Missense_Mutation_p.P317Q|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000522003.1_Missense_Mutation_p.P209Q|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000520281.1_Missense_Mutation_p.P274Q	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	317					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(22)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GGGGACGTGTGGAGGGTACCC	0.637000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								8	21					3.07112e-06	3.61274e-06	0.010729	1	0
MRPS28	28957	broad.mit.edu	37	8	80831369	80831369	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:80831369C>A	ENST00000276585.4	-	3	432	c.410G>T	c.(409-411)gGa>gTa	p.G137V	MRPS28_ENST00000521605.1_Missense_Mutation_p.R76S|MRPS28_ENST00000521434.1_Missense_Mutation_p.G75V	NM_014018.2	NP_054737.1	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S28	137						mitochondrial small ribosomal subunit				endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5	Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805)			GACCCTGGTTCCTTTCTGGTA	0.353000													70	23					1.15062e-32	2.16323e-32	0.003610	1	0
GMIP	51291	broad.mit.edu	37	19	19745413	19745413	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:19745413G>A	ENST00000203556.4	-	18	2124	c.1987C>T	c.(1987-1989)Ccc>Tcc	p.P663S	GMIP_ENST00000586269.1_Intron|GMIP_ENST00000587238.1_Missense_Mutation_p.P637S|GMIP_ENST00000445806.2_Missense_Mutation_p.P634S	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	663	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCAGGGCTGGGGCTGGGGGTC	0.617000													109	38					0	0	0.003610	0	0
TP53BP2	7159	broad.mit.edu	37	1	223985993	223985993	+	Silent	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:223985993C>G	ENST00000391878.2	-	13	2253	c.1485G>C	c.(1483-1485)gcG>gcC	p.A495A	TP53BP2_ENST00000391879.2_Intron|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Silent_p.A624A	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	618					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TTTTTCCTGGCGCCTGCTGTT	0.493000													53	21					0	0	0.003610	0	0
RASGRP2	10235	broad.mit.edu	37	11	64497271	64497271	+	Splice_Site	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:64497271C>A	ENST00000377494.1	-	13	2477		c.e13-1		RASGRP2_ENST00000377497.3_Splice_Site|RASGRP2_ENST00000394432.3_Splice_Site|RASGRP2_ENST00000354024.3_Splice_Site			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)						platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGCCCAGGATCTGCAATAGAG	0.517000													20	53					1.56452e-12	2.21185e-12	0.007413	1	0
DSCAM	1826	broad.mit.edu	37	21	41385052	41385052	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr21:41385052G>A	ENST00000400454.1	-	33	6425	c.5948C>T	c.(5947-5949)gCt>gTt	p.A1983V		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1983				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCTCATTTTAGCTGCCTGTCC	0.582000													9	28					0	0	0.004482	0	0
AVPR1A	552	broad.mit.edu	37	12	63543863	63543863	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:63543863C>A	ENST00000299178.2	-	1	859	c.754G>T	c.(754-756)Gcg>Tcg	p.A252S		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	252					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	TGGCGCGACGCCGTCTTCCCG	0.622000													51	72					3.93605e-18	6.42684e-18	0.003610	1	0
FGD6	55785	broad.mit.edu	37	12	95498862	95498862	+	Splice_Site	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:95498862C>G	ENST00000343958.4	-	14	3641	c.3417_splice	c.e14-1	p.V1140_splice	FGD6_ENST00000549499.1_Splice_Site_p.V1140_splice|FGD6_ENST00000546711.1_Splice_Site_p.V1140_splice	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1140	PH 1.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GGTTTTCTGACCTGGAAGAAA	0.408000													18	65					0	0	0.008871	0	0
ZNF423	23090	broad.mit.edu	37	16	49672753	49672753	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr16:49672753C>G	ENST00000561648.1	-	4	363	c.310G>C	c.(310-312)Gcc>Ccc	p.A104P	ZNF423_ENST00000562871.1_Missense_Mutation_p.A44P|ZNF423_ENST00000562520.1_Missense_Mutation_p.A44P|ZNF423_ENST00000262383.2_Missense_Mutation_p.A104P|ZNF423_ENST00000567169.1_5'UTR|ZNF423_ENST00000563137.2_Missense_Mutation_p.A44P|ZNF423_ENST00000535559.1_5'UTR	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	104					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)				GGAGACGAGGCCACCCAGGAG	0.602000													10	5					0	0	0.010729	0	0
KLF17	128209	broad.mit.edu	37	1	44584645	44584645	+	Silent	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:44584645G>C	ENST00000372299.3	+	1	124	c.66G>C	c.(64-66)gcG>gcC	p.A22A	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	22					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.A22A(2)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					GGCAGGCGGCGCACCAGGCTG	0.697000													13	12					0	0	0.001855	0	0
DRC1	92749	broad.mit.edu	37	2	26676226	26676226	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:26676226C>A	ENST00000288710.2	+	14	1802	c.1728C>A	c.(1726-1728)agC>agA	p.S576R		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		AGAAGGCGAGCATGGAGGAGA	0.562000													44	48					2.13384e-23	3.75292e-23	0.003610	1	0
ATP10B	23120	broad.mit.edu	37	5	160059308	160059308	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:160059308A>T	ENST00000327245.5	-	13	2294	c.1448T>A	c.(1447-1449)cTg>cAg	p.L483Q	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	483					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGAGAAGGACAGGCATTGGTA	0.552000													15	33					0	0	0.002450	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306276	2306276	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr4:2306276G>T	ENST00000290974.2	-	8	2130	c.1791C>A	c.(1789-1791)gcC>gcA	p.A597A	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Silent_p.A527A|ZFYVE28_ENST00000511071.1_Silent_p.A567A	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	597					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						TGGCTAAGCCGGCAGCGTACG	0.687000													20	11					5.03518e-11	6.78938e-11	0.007413	1	0
LINC00521	256369	broad.mit.edu	37	14	94467751	94467751	+	RNA	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr14:94467751G>C	ENST00000444118.1	+	0	829					NR_024182.1																						CATAGCCCTGGGGAAGGCCTA	0.662000													4	1					0	0	0.009096	0	0
VPS13B	157680	broad.mit.edu	37	8	100883035	100883035	+	Silent	SNP	T	T	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:100883035T>G	ENST00000358544.2	+	60	11601	c.11490T>G	c.(11488-11490)ctT>ctG	p.L3830L	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.L3805L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3830					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GAGCTGGACTTTCTCAGCTTC	0.418000													17	97					0	0	0.004990	0	0
PLXNA4	91584	broad.mit.edu	37	7	131870220	131870220	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:131870220C>T	ENST00000359827.3	-	16	3958	c.2996G>A	c.(2995-2997)cGa>cAa	p.R999Q	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R999Q			Q9HCM2	PLXA4_HUMAN	plexin A4	999	IPT/TIG 2.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGATGGAGATCGCCTGGAGGG	0.592000													30	28					0	0	0.009535	0	0
POFUT2	23275	broad.mit.edu	37	21	46703297	46703297	+	Splice_Site	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr21:46703297C>A	ENST00000331343.7	-	3	554		c.e3+1		POFUT2_ENST00000471540.1_Splice_Site|POFUT2_ENST00000349485.5_Splice_Site	NM_015227.4	NP_056042.1	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2						fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		TCAGCAGGCACCTGTAGTACT	0.687000													42	57					2.66277e-13	3.81177e-13	0.006999	1	0
TMEM71	137835	broad.mit.edu	37	8	133764037	133764037	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:133764037A>G	ENST00000356838.3	-	4	450	c.308T>C	c.(307-309)tTa>tCa	p.L103S	TMEM71_ENST00000377901.4_Missense_Mutation_p.L103S|TMEM71_ENST00000523829.1_Missense_Mutation_p.L103S|TMEM71_ENST00000517538.1_5'UTR	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	103						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TTACCTAACTAAGTTCTCCTT	0.368000													16	99					0	0	0.003163	0	0
CPA3	1359	broad.mit.edu	37	3	148583101	148583101	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:148583101C>A	ENST00000296046.3	+	1	59	c.7C>A	c.(7-9)Ctc>Atc	p.L3I	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	3					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AACCATGAGGCTCATCCTGCC	0.483000													21	43					1.10513e-12	1.56592e-12	0.002299	1	0
LRRC66	339977	broad.mit.edu	37	4	52861699	52861699	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr4:52861699C>G	ENST00000343457.3	-	4	1495	c.1489G>C	c.(1489-1491)Gca>Cca	p.A497P		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	497						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CCACTTCCTGCCCCGGTGTTG	0.547000													44	20					0	0	0.009718	0	0
RTP3	83597	broad.mit.edu	37	3	46539704	46539704	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:46539704C>A	ENST00000296142.3	+	1	724	c.152C>A	c.(151-153)gCc>gAc	p.A51D		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	51					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TGGACCTTCGCCAGGTGAGGG	0.493000													35	11					3.3946e-10	4.49032e-10	0.005524	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144866593	144866593	+	Splice_Site	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:144866593C>T	ENST00000369359.4	-	37	6095	c.6058_splice	c.e37+1	p.R2019_splice	PDE4DIP_ENST00000369356.4_Splice_Site_p.R1883_splice|PDE4DIP_ENST00000369354.3_Splice_Site_p.R1883_splice|PDE4DIP_ENST00000530740.1_Splice_Site_p.R1968_splice|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Splice_Site_p.R1777_splice			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1883					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCTCCTACCCCTTCCACGAG	0.527000			T	PDGFRB	MPD								37	201					0	0	0.006230	0	0
LILRB1	10859	broad.mit.edu	37	19	55143411	55143411	+	Silent	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:55143411A>T	ENST00000396331.1	+	6	741	c.384A>T	c.(382-384)tcA>tcT	p.S128S	LILRB1_ENST00000434867.2_Silent_p.S128S|LILRB1_ENST00000427581.2_Silent_p.S164S|LILRB1_ENST00000396315.1_Silent_p.S128S|LILRB1_ENST00000396317.1_Silent_p.S128S|LILRB1_ENST00000418536.2_Silent_p.S128S|LILRB1_ENST00000448689.1_Silent_p.S128S|LILRB1_ENST00000396321.2_Silent_p.S128S|LILRB1_ENST00000324602.7_Silent_p.S128S|LILRB1_ENST00000396327.3_Silent_p.S128S|LILRB1_ENST00000396332.4_Silent_p.S128S	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	128	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCACCCTCTCAGCCCAGCCCA	0.572000										HNSCC(37;0.09)			59	17					0	0	0.003610	0	0
ASXL3	80816	broad.mit.edu	37	18	31319459	31319459	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr18:31319459C>A	ENST00000269197.5	+	11	2091	c.2091C>A	c.(2089-2091)aaC>aaA	p.N697K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	697	Ser-rich.				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						TTATGTCCAACTTACCATTAA	0.368000													141	115					8.80896e-55	1.7396e-54	0.003610	1	0
DNAH3	55567	broad.mit.edu	37	16	20952745	20952745	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr16:20952745G>T	ENST00000261383.3	-	59	11631	c.11632C>A	c.(11632-11634)Cag>Aag	p.Q3878K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3878					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATGAGCTCCTGCCTTAGGACG	0.493000													202	311					1.10085e-114	2.21584e-114	0.003610	1	0
GFRAL	389400	broad.mit.edu	37	6	55223723	55223723	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:55223723C>A	ENST00000340465.2	+	6	825	c.739C>A	c.(739-741)Cgt>Agt	p.R247S		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	247						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATGCTGGCAGCGTGTGACTAG	0.378000													46	29					3.86361e-14	5.7269e-14	0.003610	1	0
ASPM	259266	broad.mit.edu	37	1	197104364	197104364	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:197104364T>C	ENST00000367409.4	-	5	2291	c.2035A>G	c.(2035-2037)Aga>Gga	p.R679G	ASPM_ENST00000294732.7_Missense_Mutation_p.R679G	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	679					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATCGGGTGTCTGGGAATATCT	0.338000													8	22					0	0	0.006214	0	0
KIF2B	84643	broad.mit.edu	37	17	51901177	51901177	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:51901177C>T	ENST00000268919.4	+	1	939	c.783C>T	c.(781-783)aaC>aaT	p.N261N		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	261	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACCTGCAGAACCAGACCTTCT	0.542000													10	51					0	0	0.008291	0	0
TFG	10342	broad.mit.edu	37	3	100467004	100467004	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:100467004C>G	ENST00000240851.4	+	8	1172	c.832C>G	c.(832-834)Cag>Gag	p.Q278E	TFG_ENST00000418917.2_Missense_Mutation_p.Q274E|TFG_ENST00000481203.1_3'UTR|TFG_ENST00000476228.1_Missense_Mutation_p.Q274E|TFG_ENST00000490574.1_Missense_Mutation_p.Q278E	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	278					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						AAGCTATAGTCAGCAGACTGG	0.423000			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""								41	60					0	0	0.009718	0	0
GRIA4	2893	broad.mit.edu	37	11	105623799	105623799	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:105623799C>A	ENST00000393127.2	+	4	786	c.340C>A	c.(340-342)Cat>Aat	p.H114N	GRIA4_ENST00000282499.5_Missense_Mutation_p.H114N|GRIA4_ENST00000530497.1_Missense_Mutation_p.H114N|GRIA4_ENST00000428631.2_Missense_Mutation_p.H114N|GRIA4_ENST00000525187.1_Missense_Mutation_p.H114N|GRIA4_ENST00000393125.2_Missense_Mutation_p.H114N	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	114					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	CAGCGCCTTACATATCTCCCT	0.468000													11	48					1.58986e-06	1.89875e-06	0.008291	1	0
ACSM5	54988	broad.mit.edu	37	16	20448627	20448627	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr16:20448627G>A	ENST00000331849.4	+	12	1621	c.1474G>A	c.(1474-1476)Gca>Aca	p.A492T		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	492					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						AAGTGCCCTGGCAGAGCATCC	0.562000													11	71					0	0	0.001855	0	0
C1QB	713	broad.mit.edu	37	1	22987436	22987436	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:22987436C>A	ENST00000509305.1	+	3	659	c.313C>A	c.(313-315)Cca>Aca	p.P105T	C1QB_ENST00000314933.6_Missense_Mutation_p.P107T			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	107	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCCTGGAGCCCCAGGCCCCAA	0.627000													16	56					1.3612e-06	1.62877e-06	0.003163	1	0
SCAPER	49855	broad.mit.edu	37	15	77046201	77046201	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr15:77046201C>A	ENST00000538941.2	-	15	2015	c.1076G>T	c.(1075-1077)cGa>cTa	p.R359L	SCAPER_ENST00000324767.7_Missense_Mutation_p.R605L|SCAPER_ENST00000563290.1_Missense_Mutation_p.R605L	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	604						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CTGCACTTCTCGCTTAAACTC	0.378000													32	81					1.88708e-17	3.04165e-17	0.008361	1	0
CPXM2	119587	broad.mit.edu	37	10	125506516	125506516	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:125506516A>G	ENST00000241305.3	-	14	2189	c.2035T>C	c.(2035-2037)Tgg>Cgg	p.W679R	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	679					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		AGGAGGCGCCAGTAATCCCCA	0.552000													97	100					0	0	0.003610	0	0
DLD	1738	broad.mit.edu	37	7	107546743	107546743	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:107546743G>C	ENST00000205402.5	+	8	895	c.614G>C	c.(613-615)gGt>gCt	p.G205A	DLD_ENST00000537148.1_Missense_Mutation_p.G106A|DLD_ENST00000440410.1_Missense_Mutation_p.G182A|DLD_ENST00000437604.2_Missense_Mutation_p.G157A	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	205					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	TCATCTACAGGTGCTTTATCT	0.333000													5	35					0	0	0.001984	0	0
SERPINA3	12	broad.mit.edu	37	14	95080977	95080977	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr14:95080977A>T	ENST00000553947.1	+	5	1162	c.274A>T	c.(274-276)Aag>Tag	p.K92*	SERPINA3_ENST00000393080.4_Nonsense_Mutation_p.K67*|SERPINA3_ENST00000393078.3_Nonsense_Mutation_p.K67*|SERPINA3_ENST00000467132.1_Nonsense_Mutation_p.K67*|SERPINA3_ENST00000556388.1_Intron			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	67					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GTTAGTCCTGAAGGCCCCTGA	0.557000													55	35					0	0	0.003610	0	0
RYR3	6263	broad.mit.edu	37	15	34093057	34093057	+	Splice_Site	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr15:34093057A>G	ENST00000389232.4	+	68	9987	c.9918_splice	c.e68+1	p.H3306_splice	RYR3_ENST00000415757.3_Splice_Site_p.H3306_splice	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3306					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)		TGTAAATCTCATGTAAGAACA	0.433000													6	32					0	0	0.001168	0	0
KIAA1432	57589	broad.mit.edu	37	9	5689958	5689958	+	Splice_Site	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr9:5689958G>T	ENST00000414202.2	+	3	443		c.e3-1		KIAA1432_ENST00000381532.2_Splice_Site|KIAA1432_ENST00000251879.6_Splice_Site|KIAA1432_ENST00000449720.2_Splice_Site|KIAA1432_ENST00000418622.3_Splice_Site	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432							integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TTCTCTTTCAGACGGCAAATG	0.294000													12	5					2.27111e-07	2.7894e-07	0.001368	1	0
CPA4	51200	broad.mit.edu	37	7	129962351	129962351	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:129962351C>G	ENST00000222482.4	+	11	1129	c.1101C>G	c.(1099-1101)atC>atG	p.I367M	CPA4_ENST00000493259.1_Missense_Mutation_p.I263M|CPA4_ENST00000445470.2_Missense_Mutation_p.I334M	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	367					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					GGAGCAGCATCGACTGGGCAT	0.527000													15	58					0	0	0.006122	0	0
MDFIC	29969	broad.mit.edu	37	7	114655761	114655761	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:114655761C>T	ENST00000257724.3	+	5	1103	c.840C>T	c.(838-840)atC>atT	p.I280I	MDFIC_ENST00000393486.1_Silent_p.I171I			Q9P1T7	MDFIC_HUMAN	MyoD family inhibitor domain containing	171					activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	cyclin binding|Tat protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						TCCACTGTATCCTGGCTTGCT	0.448000													97	432					0	0	0.003610	0	0
GAK	2580	broad.mit.edu	37	4	877135	877135	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr4:877135T>A	ENST00000314167.4	-	13	1482	c.1372A>T	c.(1372-1374)Agg>Tgg	p.R458W	GAK_ENST00000511163.1_Missense_Mutation_p.R379W	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	458	Phosphatase tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CGGTAGGTCCTCGGGGACAGG	0.587000													41	17					0	0	0.009718	0	0
KCTD8	386617	broad.mit.edu	37	4	44450425	44450425	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr4:44450425G>T	ENST00000360029.3	-	1	399	c.116C>A	c.(115-117)cCc>cAc	p.P39H		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	39						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GAAGGGCGAGGGTGCGCAggg	0.682000										HNSCC(17;0.042)			7	29					8.12818e-05	8.99624e-05	0.001984	1	0
ZNF862	643641	broad.mit.edu	37	7	149558392	149558392	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:149558392G>T	ENST00000223210.4	+	7	2388	c.2143G>T	c.(2143-2145)Gtc>Ttc	p.V715F		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	715					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GTTCCAGGAGGTCATCCCGCA	0.647000													10	22					0.000442599	0.000475188	0.006214	1	0
TARS	6897	broad.mit.edu	37	5	33462206	33462206	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:33462206A>G	ENST00000265112.3	+	16	2044	c.1733A>G	c.(1732-1734)cAt>cGt	p.H578R	TARS_ENST00000541634.1_Missense_Mutation_p.H474R|TARS_ENST00000455217.2_Missense_Mutation_p.H611R|TARS_ENST00000509410.1_3'UTR|TARS_ENST00000502553.1_Missense_Mutation_p.H578R|TARS_ENST00000414361.2_Missense_Mutation_p.H457R	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	578					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	CTTTATAGCCATGATGGTGAT	0.358000													19	134					0	0	0.007413	0	0
MTRR	4552	broad.mit.edu	37	5	7878080	7878080	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:7878080G>T	ENST00000264668.2	+	5	536	c.506G>T	c.(505-507)tGg>tTg	p.W169L	MTRR_ENST00000341013.6_3'UTR|MTRR_ENST00000440940.2_Missense_Mutation_p.W142L|MTRR_ENST00000502509.1_3'UTR	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	169	Flavodoxin-like.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	GTTGAGCCGTGGATTGCTGGA	0.473000													45	136					1.48526e-39	2.86541e-39	0.003610	1	0
ESYT2	57488	broad.mit.edu	37	7	158590748	158590748	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:158590748G>T	ENST00000251527.5	-	3	601	c.536C>A	c.(535-537)cCt>cAt	p.P179H	ESYT2_ENST00000497111.1_5'UTR	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	207						integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						GCAAATGAAAGGCCACATGTG	0.428000													11	26					2.80697e-09	3.61762e-09	0.010729	1	0
UNC79	57578	broad.mit.edu	37	14	94120109	94120109	+	Silent	SNP	G	G	T	rs142666714	byFrequency	TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr14:94120109G>T	ENST00000553484.1	+	38	6442	c.6288G>T	c.(6286-6288)gcG>gcT	p.A2096A	UNC79_ENST00000555664.1_Silent_p.A2035A|UNC79_ENST00000393151.2_Silent_p.A2074A|UNC79_ENST00000256339.4_Silent_p.A1897A			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2074						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCGGCAATGCGGCGGGGGTGG	0.532000													120	109					1.28113e-61	2.55005e-61	0.003610	1	0
NPAP1	23742	broad.mit.edu	37	15	24923267	24923267	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr15:24923267G>A	ENST00000329468.2	+	1	2727	c.2253G>A	c.(2251-2253)caG>caA	p.Q751Q		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TGCCTGCACAGTCAGTCAGGG	0.562000													84	63					0	0	0.003610	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38572906	38572906	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:38572906G>T	ENST00000222345.6	+	3	1210	c.701G>T	c.(700-702)gGg>gTg	p.G234V		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	234					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GACGCCCGAGGGTGCCAGGCC	0.701000													16	63					3.41278e-10	4.50487e-10	0.004990	1	0
LAMC3	10319	broad.mit.edu	37	9	133942513	133942513	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr9:133942513C>A	ENST00000361069.4	+	14	2647	c.2514C>A	c.(2512-2514)acC>acA	p.T838T	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	838	Laminin EGF-like 8.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TGCACAACACCACGGGTGACC	0.642000													32	8					2.47316e-13	3.55251e-13	0.003271	1	0
FAM84A	151354	broad.mit.edu	37	2	14774171	14774171	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:14774171G>T	ENST00000295092.2	+	2	356	c.68G>T	c.(67-69)gGg>gTg	p.G23V	FAM84A_ENST00000331243.4_Missense_Mutation_p.G23V	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	23										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)			GACCCGTCGGGGATTGAAAAG	0.617000													10	20					2.17888e-05	2.47492e-05	0.006214	1	0
TOPBP1	11073	broad.mit.edu	37	3	133358846	133358846	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:133358846T>A	ENST00000260810.5	-	13	2321	c.2190A>T	c.(2188-2190)agA>agT	p.R730S		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	730	BRCT 5.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TTTCGTCTGCTCTCTTTCCCG	0.368000								Other conserved DNA damage response genes					16	30					0	0	0.006122	0	0
NFE2	4778	broad.mit.edu	37	12	54686778	54686778	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:54686778G>A	ENST00000540264.2	-	2	1011	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	NFE2_ENST00000435572.2_Missense_Mutation_p.R168W|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Missense_Mutation_p.R168W|NFE2_ENST00000312156.4_Missense_Mutation_p.R168W			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	168	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						TCGCTGCGCCGCCGACCAGCC	0.552000													57	77					0	0	0.003610	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217315567	217315567	+	Splice_Site	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:217315567A>T	ENST00000357276.4	+	12	2181		c.e12-1		SMARCAL1_ENST00000358207.5_Splice_Site	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1						chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TGTTCTCTGCAGATGCCTTGG	0.612000									Schimke Immuno-Osseous Dysplasia				7	33					0	0	0.001984	0	0
MYOZ1	58529	broad.mit.edu	37	10	75397562	75397562	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:75397562C>A	ENST00000359322.4	-	3	556	c.192G>T	c.(190-192)caG>caT	p.Q64H		NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN	myozenin 1	64					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					CCACCCTCATCTGCCGCAGTT	0.488000													86	114					4.78148e-37	9.15417e-37	0.003610	1	0
TTN	7273	broad.mit.edu	37	2	179605447	179605447	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:179605447C>A	ENST00000589042.1	-	48	12737	c.12513G>T	c.(12511-12513)gaG>gaT	p.E4171D	TTN_ENST00000591111.1_Missense_Mutation_p.E3854D|TTN_ENST00000359218.5_Missense_Mutation_p.E3933D|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E3808D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E4000D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3854							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)			GTGTCTCAGGCTCTTCAGGCA	0.428000													43	45					1.47197e-15	2.26763e-15	0.007835	1	0
LINGO1	84894	broad.mit.edu	37	15	77906965	77906965	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr15:77906965G>C	ENST00000355300.6	-	2	1458	c.1284C>G	c.(1282-1284)gaC>gaG	p.D428E	LINGO1_ENST00000561030.1_Missense_Mutation_p.D422E	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	428	Ig-like C2-type.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GGGCCTTGCGGTCCCGGATGC	0.672000													5	16					0	0	0.000602	0	0
LRP1B	53353	broad.mit.edu	37	2	141267567	141267567	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:141267567G>T	ENST00000389484.3	-	52	9299	c.8328C>A	c.(8326-8328)ccC>ccA	p.P2776P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2776	LDL-receptor class A 17.				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)		GCCAATGTCGGGGCACGCAGG	0.522000										TSP Lung(27;0.18)			27	126					1.39806e-14	2.10717e-14	0.008361	1	0
TNNI1	7135	broad.mit.edu	37	1	201382239	201382239	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:201382239C>T	ENST00000361379.4	-	6	292	c.200G>A	c.(199-201)cGg>cAg	p.R67Q	TNNI1_ENST00000555948.1_Missense_Mutation_p.R67Q|TNNI1_ENST00000336092.4_Missense_Mutation_p.R67Q|TNNI1_ENST00000367312.1_Missense_Mutation_p.R67Q	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)	67			R -> W (in dbSNP:rs2296695).		muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding	p.R67L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						GTGCAGCTCCCGGCACAGGTC	0.592000													77	289					0	0	0.003610	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767133	77767133	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:77767133G>T	ENST00000521891.2	+	10	8424	c.7976G>T	c.(7975-7977)cGg>cTg	p.R2659L	ZFHX4_ENST00000050961.6_Missense_Mutation_p.R2614L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R2614L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R2633L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2614						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)			ACACGAGCGCGGGAGAGGAAA	0.527000										HNSCC(33;0.089)			40	171					1.57019e-19	2.61144e-19	0.007835	1	0
KCNH3	23416	broad.mit.edu	37	12	49944096	49944096	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:49944096C>T	ENST00000257981.6	+	10	2162	c.1902C>T	c.(1900-1902)acC>acT	p.T634T		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	634					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						AGGGTGGCACCGTGCTCGCCA	0.627000													37	48					0	0	0.009718	0	0
ZNF185	7739	broad.mit.edu	37	X	152083306	152083306	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chrX:152083306G>A	ENST00000535861.1	+	2	135	c.87G>A	c.(85-87)atG>atA	p.M29I	ZNF185_ENST00000370268.4_Missense_Mutation_p.M29I|ZNF185_ENST00000318504.7_Missense_Mutation_p.M29I|ZNF185_ENST00000539731.1_Missense_Mutation_p.M29I|ZNF185_ENST00000449285.2_Missense_Mutation_p.M29I|ZNF185_ENST00000324823.6_5'UTR	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	29						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					TCAAGCAGATGAAAGTGCGAA	0.592000													9	6					0	0	0.006214	0	0
PC	5091	broad.mit.edu	37	11	66636436	66636436	+	Splice_Site	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:66636436C>A	ENST00000393960.1	-	10	1185		c.e10-1		PC_ENST00000393958.2_Splice_Site|PC_ENST00000355677.3_Splice_Site|PC_ENST00000393955.2_Splice_Site|PC_ENST00000524491.1_Splice_Site	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase						gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CGTAGCCCACCTGTGGGGGCG	0.647000													42	55					1.59932e-28	2.93209e-28	0.007835	1	0
RGPD3	653489	broad.mit.edu	37	2	107040686	107040686	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:107040686G>T	ENST00000409886.3	-	20	3824	c.3737C>A	c.(3736-3738)aCa>aAa	p.T1246K	RGPD3_ENST00000304514.7_Missense_Mutation_p.T1246K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1246					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCATTCTAATGTGGGCCCAGT	0.453000													126	131					8.174e-68	1.6348e-67	0.003610	1	0
DLGAP1	9229	broad.mit.edu	37	18	3534215	3534215	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr18:3534215C>A	ENST00000315677.3	-	10	3051	c.2456G>T	c.(2455-2457)cGg>cTg	p.R819L	DLGAP1_ENST00000539435.1_Missense_Mutation_p.R527L|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R819L|DLGAP1_ENST00000534970.1_Missense_Mutation_p.R503L|DLGAP1_ENST00000400147.2_Missense_Mutation_p.R517L|DLGAP1_ENST00000400155.1_Missense_Mutation_p.R525L|DLGAP1_ENST00000400150.3_Missense_Mutation_p.R535L|DLGAP1_ENST00000400145.2_Missense_Mutation_p.R517L|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R819L|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R819L|DLGAP1_ENST00000400149.3_Missense_Mutation_p.R509L|DLGAP1_ENST00000581699.1_Missense_Mutation_p.R525L	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	819					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GTTGTTTTCCCGTTCTTCCCG	0.582000													37	34					1.49673e-21	2.57463e-21	0.006230	1	0
RASAL2	9462	broad.mit.edu	37	1	178427494	178427494	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:178427494G>C	ENST00000448150.3	+	14	3852	c.3034G>C	c.(3034-3036)Gcc>Ccc	p.A1012P	RASAL2_ENST00000462775.1_Missense_Mutation_p.A882P|RASAL2_ENST00000367649.3_Missense_Mutation_p.A1023P	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	882					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AGGTGCCCGAGCCAAAGCCCC	0.582000													31	25					0	0	0.010818	0	0
KNG1	3827	broad.mit.edu	37	3	186437939	186437939	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:186437939G>T	ENST00000265023.4	+	2	453	c.241G>T	c.(241-243)Ggg>Tgg	p.G81W	KNG1_ENST00000287611.2_Missense_Mutation_p.G81W|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Missense_Mutation_p.G81W	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	81	Cystatin 1.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	AATCAAGGAGGGGGATTGTCC	0.448000													18	33					8.00594e-06	9.27004e-06	0.007413	1	0
PCSK9	255738	broad.mit.edu	37	1	55512290	55512290	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:55512290G>T	ENST00000302118.5	+	3	784	c.494G>T	c.(493-495)cGg>cTg	p.R165L	PCSK9_ENST00000452118.2_Missense_Mutation_p.R165L|PCSK9_ENST00000543384.1_Intron	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	165	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						ACCCCTCCACGGTACCGGGCG	0.617000													15	18					2.23348e-06	2.64725e-06	0.004007	1	0
XIRP2	129446	broad.mit.edu	37	2	168101897	168101897	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:168101897A>G	ENST00000409195.1	+	9	4084	c.3995A>G	c.(3994-3996)cAt>cGt	p.H1332R	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.H1332R|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.H1110R|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1157					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						GGGTCCTATCATGAAGTGACC	0.383000													11	33					0	0	0.008291	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47424817	47424817	+	Missense_Mutation	SNP	G	G	C	rs140857154	by1000genomes	TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:47424817G>C	ENST00000404338.3	+	1	2885	c.2885G>C	c.(2884-2886)aGc>aCc	p.S962T		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	962					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										GAGGCCTGTAGCACCACCGAA	0.463000													3	35					0	0	0.004672	0	0
KALRN	8997	broad.mit.edu	37	3	124431918	124431918	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:124431918C>T	ENST00000360013.3	+	58	8339	c.8212C>T	c.(8212-8214)Ccc>Tcc	p.P2738S	KALRN_ENST00000291478.4_Missense_Mutation_p.P1041S|KALRN_ENST00000428018.2_Missense_Mutation_p.P1009S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2737	Protein kinase.				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						CCTACAGCACCCCCAGTACAT	0.498000													21	87					0	0	0.002299	0	0
FAM131C	348487	broad.mit.edu	37	1	16385088	16385088	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:16385088G>C	ENST00000375662.4	-	7	870	c.687C>G	c.(685-687)agC>agG	p.S229R	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	229	Pro-rich.									large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCAGCGGTGCTGGGGGGCT	0.736000													3	12					0	0	0.004672	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77191245	77191245	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:77191245G>T	ENST00000426126.2	+	2	774	c.125G>T	c.(124-126)gGa>gTa	p.G42V	ZDHHC17_ENST00000359019.4_Intron|ZDHHC17_ENST00000334822.5_Missense_Mutation_p.G42V	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	42					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TATAACCATGGATATGGTGAA	0.343000													12	12					6.72482e-11	9.04821e-11	0.003163	1	0
CHAT	1103	broad.mit.edu	37	10	50857553	50857553	+	Splice_Site	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:50857553G>T	ENST00000395562.2	+	11	1605		c.e11-1		CHAT_ENST00000395559.2_Splice_Site|CHAT_ENST00000351556.3_Splice_Site|CHAT_ENST00000455728.2_Splice_Site|CHAT_ENST00000339797.1_Splice_Site|CHAT_ENST00000337653.2_Splice_Site	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase						neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TGTGCCCGCAGGACGCAGAGC	0.617000													16	6					1.5739e-10	2.09075e-10	0.004007	1	0
TAS2R30	259293	broad.mit.edu	37	12	11286404	11286404	+	Missense_Mutation	SNP	A	A	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:11286404A>C	ENST00000539585.1	-	1	839	c.440T>G	c.(439-441)aTa>aGa	p.I147R	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1			taste receptor, type 2, member 30											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						ATCCATGTTTATCACAAAAAG	0.373000													30	135					0	0	0.009535	0	0
PCLO	27445	broad.mit.edu	37	7	82453732	82453732	+	Splice_Site	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:82453732C>A	ENST00000423517.2	-	19	14753	c.14415_splice	c.e19-1	p.V4806_splice	PCLO_ENST00000333891.8_Splice_Site_p.V4806_splice|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4668					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCAATCAATACCTGAAAAAAA	0.313000													12	12					0.00010058	0.00011093	0.001368	1	0
RFPL2	10739	broad.mit.edu	37	22	32589152	32589152	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr22:32589152G>T	ENST00000400236.3	-	4	1228	c.23C>A	c.(22-24)gCa>gAa	p.A8E	RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248983.4_Missense_Mutation_p.A8E|RFPL2_ENST00000400237.1_Missense_Mutation_p.A98E|RFPL2_ENST00000248980.4_Missense_Mutation_p.A37E	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	98							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						ACAGCTGCTTGCTTCTTGGAA	0.483000													59	9					7.10663e-31	1.32221e-30	0.003610	1	0
RPGRIP1	57096	broad.mit.edu	37	14	21769237	21769237	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr14:21769237C>A	ENST00000206660.6	+	3	331	c.331C>A	c.(331-333)Cag>Aag	p.Q111K	RPGRIP1_ENST00000400017.2_Missense_Mutation_p.Q111K|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.Q111K|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.Q111K			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	111					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GGGATGGCGGCAGCGCCTCTC	0.741000													7	25					2.0095e-06	2.39081e-06	0.001984	1	0
ETV3L	440695	broad.mit.edu	37	1	157062832	157062832	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:157062832A>T	ENST00000454449.2	-	5	979	c.695T>A	c.(694-696)tTc>tAc	p.F232Y		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	232						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GGGAGGAGTGAAGGAGGCAAC	0.647000													7	3					0	0	0.001984	0	0
PKHD1	5314	broad.mit.edu	37	6	51774135	51774135	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:51774135C>G	ENST00000371117.3	-	40	6903	c.6628G>C	c.(6628-6630)Ggg>Cgg	p.G2210R	PKHD1_ENST00000340994.4_Missense_Mutation_p.G2210R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2210					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)					AAGGCTTGCCCCAAGACTTGA	0.532000													51	56					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179423219	179423219	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:179423219C>A	ENST00000589042.1	-	327	87191	c.86967G>T	c.(86965-86967)tgG>tgT	p.W28989C	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W27348C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W20049C|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W19924C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W26421C|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W20116C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27348	Fibronectin type-III 111.						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)			CACATTTAACCCAGTTTTTCT	0.448000													9	34					0.000274275	0.000296245	0.004482	1	0
RGS2	5997	broad.mit.edu	37	1	192779316	192779316	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:192779316G>T	ENST00000235382.5	+	2	162	c.131G>T	c.(130-132)cGt>cTt	p.R44L	RGS2_ENST00000483295.1_3'UTR	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2, 24kDa	44	Necessary for membrane association.				cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity			large_intestine(3)|lung(1)|urinary_tract(1)	5						TGGAAGACCCGTTTGAGCTAC	0.358000													14	20					3.27435e-08	4.09376e-08	0.002450	1	0
KRT6C	286887	broad.mit.edu	37	12	52865270	52865270	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:52865270C>T	ENST00000252250.6	-	4	894	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	283	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GCTTGCAGTTCAACCTTGTTC	0.483000													33	57					0	0	0.003271	0	0
DECR2	26063	broad.mit.edu	37	16	461425	461425	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr16:461425G>C	ENST00000219481.5	+	8	864	c.726G>C	c.(724-726)aaG>aaC	p.K242N	DECR2_ENST00000461947.1_Intron|DECR2_ENST00000424398.2_Missense_Mutation_p.K230N	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	242						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				TGGGGAACAAGACCGAGATCG	0.687000													25	6					0	0	0.003330	0	0
BRINP3	339479	broad.mit.edu	37	1	190203589	190203589	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:190203589C>T	ENST00000367462.3	-	5	868	c.637G>A	c.(637-639)Ggt>Agt	p.G213S	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.G111S	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		213						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CCAAGAGGACCAGTCCGTGTT	0.388000													5	44					0	0	0.000602	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256192	15256192	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:15256192G>T	ENST00000378116.4	-	8	1401	c.1395C>A	c.(1393-1395)ccC>ccA	p.P465P	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	465			P -> S (in dbSNP:rs3814165).			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						TTGCCTTTAAGGGAAAAACCT	0.463000													18	12					3.70931e-20	6.21856e-20	0.006122	1	0
OR2G6	391211	broad.mit.edu	37	1	248685360	248685360	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:248685360C>A	ENST00000343414.4	+	1	445	c.413C>A	c.(412-414)cCc>cAc	p.P138H		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATTATGCACCCCAGGTTCTGT	0.587000													26	31					9.57634e-11	1.28161e-10	0.003330	1	0
TSPEAR	54084	broad.mit.edu	37	21	45947323	45947323	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr21:45947323C>A	ENST00000323084.4	-	7	1066	c.1001G>T	c.(1000-1002)cGc>cTc	p.R334L	TSPEAR_ENST00000397916.1_Missense_Mutation_p.R266L	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	334					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CTGAGGGATGCGGAACACCTC	0.522000													46	11					9.84934e-19	1.62088e-18	0.010771	1	0
FGFR1OP	11116	broad.mit.edu	37	6	167413566	167413566	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:167413566G>C	ENST00000366847.3	+	2	352	c.121G>C	c.(121-123)Gtg>Ctg	p.V41L	FGFR1OP_ENST00000349556.4_Missense_Mutation_p.V41L|FGFR1OP_ENST00000476078.1_3'UTR	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	41					G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		CCGAGCAGCTGTGTTTTTAGC	0.318000			T	FGFR1	"""MPD, NHL"""								13	5					0	0	0.003163	0	0
CALCRL	10203	broad.mit.edu	37	2	188243735	188243735	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:188243735C>A	ENST00000409998.1	-	9	1213	c.432G>T	c.(430-432)ctG>ctT	p.L144L	CALCRL_ENST00000392370.3_Silent_p.L144L|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Silent_p.L144L|AC007319.1_ENST00000412276.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	144				L -> Q (in Ref. 4; BAF84319).		integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			CAATTATGGTCAGGTAAAACA	0.289000													14	40					6.94344e-10	9.06043e-10	0.006122	1	0
OR4K13	390433	broad.mit.edu	37	14	20502451	20502451	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr14:20502451G>T	ENST00000315693.2	-	1	468	c.467C>A	c.(466-468)tCa>tAa	p.S156*		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TTGACTAGATGAGTGCACAAA	0.463000													32	50					1.74807e-11	2.38269e-11	0.010818	1	0
CCDC80	151887	broad.mit.edu	37	3	112337825	112337825	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:112337825A>T	ENST00000206423.3	-	4	3115	c.2162T>A	c.(2161-2163)cTg>cAg	p.L721Q	CCDC80_ENST00000439685.2_Missense_Mutation_p.L721Q	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	721										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CTTGACTCTCAGATCCACATC	0.388000													45	44					0	0	0.003610	0	0
OR2A14	135941	broad.mit.edu	37	7	143826988	143826988	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:143826988C>A	ENST00000408899.2	+	1	838	c.783C>A	c.(781-783)ccC>ccA	p.P261P		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					ACATGGCCCCCAAGTCCCGCC	0.547000													89	75					5.02048e-33	9.46719e-33	0.003610	1	0
ST8SIA1	6489	broad.mit.edu	37	12	22402033	22402033	+	Splice_Site	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:22402033C>A	ENST00000396037.4	-	4	973		c.e4-1		ST8SIA1_ENST00000539510.1_Splice_Site	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1						glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						GAGATTGCATCTAGAGAAACA	0.338000													34	7					1.74807e-11	2.38269e-11	0.010818	1	0
ZDBF2	57683	broad.mit.edu	37	2	207176280	207176280	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:207176280G>A	ENST00000374423.3	+	5	7414	c.7028G>A	c.(7027-7029)cGg>cAg	p.R2343Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2343							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATGATGACTCGGCTAGCAAAC	0.408000													6	22					0	0	0.001168	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90576933	90576933	+	RNA	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:90576933A>T	ENST00000551025.1	+	0	5361							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TGAGTGATGCACAAATGGGTG	0.398000													40	17					0	0	0.007835	0	0
GRHPR	9380	broad.mit.edu	37	9	37424918	37424918	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr9:37424918G>T	ENST00000607784.1	+	2	165	c.160G>T	c.(160-162)Ggc>Tgc	p.G54C	GRHPR_ENST00000493368.1_3'UTR|GRHPR_ENST00000318158.6_Missense_Mutation_p.G54C			Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	54					cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		GGGGGCCCACGGCCTGCTCTG	0.667000													13	23					6.31663e-08	7.8504e-08	0.003163	1	0
TMEM47	83604	broad.mit.edu	37	X	34675043	34675043	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chrX:34675043A>T	ENST00000275954.3	-	1	362	c.104T>A	c.(103-105)cTg>cAg	p.L35Q		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	35						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CACCGCCCCCAGGTCCAGACA	0.667000													7	0					0	0	0.003080	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480640	140480640	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:140480640A>T	ENST00000231130.2	+	1	407	c.407A>T	c.(406-408)aAt>aTt	p.N136I	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		136					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTTTGAAAATGAAATGCAT	0.393000													35	15					0	0	0.003271	0	0
PRNP	5621	broad.mit.edu	37	20	4679880	4679880	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr20:4679880G>C	ENST00000379440.4	+	2	301	c.14G>C	c.(13-15)gGc>gCc	p.G5A	PRNP_ENST00000430350.2_Missense_Mutation_p.G5A	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN	prion protein	5					axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	GCGAACCTTGGCTGCTGGATG	0.498000													31	64					0	0	0.003755	0	0
C11orf48	79081	broad.mit.edu	37	11	62430601	62430601	+	Nonstop_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:62430601C>G	ENST00000431002.2	-	5	2603	c.870G>C	c.(868-870)taG>taC	p.*290Y	C11orf48_ENST00000524958.1_Missense_Mutation_p.S98T|RP11-831H9.11_ENST00000528405.1_Intron|C11orf48_ENST00000525675.1_Nonstop_Mutation_p.*123Y|C11orf48_ENST00000532208.1_Nonstop_Mutation_p.*264Y|C11orf48_ENST00000354588.3_Nonstop_Mutation_p.*264Y			Q9BQE6	CK048_HUMAN	chromosome 11 open reading frame 48	0										endometrium(1)|lung(5)|urinary_tract(1)	7						CTGTGGTTCACTAGTCCTGGC	0.473000													29	32					0	0	0.012213	0	0
NPAP1	23742	broad.mit.edu	37	15	24923831	24923831	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr15:24923831C>A	ENST00000329468.2	+	1	3291	c.2817C>A	c.(2815-2817)agC>agA	p.S939R		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TGAGTGGCAGCATAATTCCAC	0.488000													20	70					4.35082e-09	5.58436e-09	0.010504	1	0
NAV3	89795	broad.mit.edu	37	12	78515962	78515962	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:78515962C>A	ENST00000397909.2	+	16	4165	c.3992C>A	c.(3991-3993)tCc>tAc	p.S1331Y	NAV3_ENST00000228327.6_Missense_Mutation_p.S1331Y|NAV3_ENST00000266692.7_Intron|NAV3_ENST00000536525.2_Missense_Mutation_p.S1331Y			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1331	Ser-rich.					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						TCGTTGGCCTCCAGCCCAGCA	0.532000										HNSCC(70;0.22)			36	54					1.03484e-13	1.51069e-13	0.005524	1	0
FMO1	2326	broad.mit.edu	37	1	171249944	171249944	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:171249944G>C	ENST00000354841.4	+	5	778	c.647G>C	c.(646-648)gGa>gCa	p.G216A	FMO1_ENST00000367750.3_Missense_Mutation_p.G216A|FMO1_ENST00000402921.2_Missense_Mutation_p.G153A|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	216					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCACCACCGGAGGGGGATGG	0.512000													13	40					0	0	0.002450	0	0
CCDC63	160762	broad.mit.edu	37	12	111345233	111345233	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:111345233C>T	ENST00000308208.5	+	12	1887	c.1645C>T	c.(1645-1647)Cct>Tct	p.P549S	CCDC63_ENST00000552694.1_Missense_Mutation_p.P470S|CCDC63_ENST00000545036.1_Missense_Mutation_p.P509S	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	549										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						AGACAGCCTGCCTGAGAAGGT	0.502000													23	48					0	0	0.002780	0	0
CRYBG3	131544	broad.mit.edu	37	3	97599971	97599971	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:97599971G>T	ENST00000182096.4	+	4	1280	c.1216G>T	c.(1216-1218)Ggg>Tgg	p.G406W		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GCTAGAAGAAGGGGAAAAGGT	0.353000													12	11					0.000978159	0.00104215	0.010729	1	0
TCEAL5	340543	broad.mit.edu	37	X	102528906	102528906	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chrX:102528906C>A	ENST00000372680.1	-	3	880	c.586G>T	c.(586-588)Ggc>Tgc	p.G196C		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TCTTTCTGGCCCCTACCTCCG	0.493000													50	21					6.34439e-16	9.92003e-16	0.003610	1	0
SLC22A12	116085	broad.mit.edu	37	11	64368221	64368221	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:64368221G>T	ENST00000377574.1	+	9	2156	c.1409G>T	c.(1408-1410)gGc>gTc	p.G470V	SLC22A12_ENST00000336464.7_Missense_Mutation_p.G436V|SLC22A12_ENST00000377572.1_Missense_Mutation_p.G362V|SLC22A12_ENST00000473690.1_Missense_Mutation_p.G249V|SLC22A12_ENST00000377567.2_Missense_Mutation_p.G362V	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	470					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						ACGGCAGTGGGCTTGGGCCAG	0.672000													12	59					4.3838e-07	5.35798e-07	0.001855	1	0
NR4A1	3164	broad.mit.edu	37	12	52452475	52452475	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:52452475G>C	ENST00000545748.1	+	8	2701	c.1706G>C	c.(1705-1707)cGg>cCg	p.R569P	NR4A1_ENST00000360284.3_Missense_Mutation_p.R528P|NR4A1_ENST00000394825.1_Missense_Mutation_p.R515P|NR4A1_ENST00000550082.1_Missense_Mutation_p.R528P|NR4A1_ENST00000394824.2_Missense_Mutation_p.R515P|NR4A1_ENST00000243050.1_Missense_Mutation_p.R515P			P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	515					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CCCGCAGACCGGCATGGGCTG	0.677000													7	10					0	0	0.001984	0	0
ZNF136	7695	broad.mit.edu	37	19	12298427	12298427	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:12298427A>T	ENST00000343979.4	+	4	1374	c.1234A>T	c.(1234-1236)Aga>Tga	p.R412*	ZNF136_ENST00000398616.2_Nonsense_Mutation_p.R346*	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	412					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						AATACATGAAAGAACTCACAC	0.363000													18	7					0	0	0.006122	0	0
EIF4E2	9470	broad.mit.edu	37	2	233431634	233431634	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:233431634G>T	ENST00000409514.1	+	5	513	c.471G>T	c.(469-471)ggG>ggT	p.G157G	EIF4E2_ENST00000258416.3_Silent_p.G157G|EIF4E2_ENST00000409167.3_Silent_p.G112G|EIF4E2_ENST00000409098.1_Silent_p.G157G|EIF4E2_ENST00000409394.1_Silent_p.G112G|EIF4E2_ENST00000409322.1_Silent_p.G112G|EIF4E2_ENST00000409495.1_Silent_p.G157G			O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	157	EIF4EBP1/2/3 binding.				regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CCATGCTGGGGGAACAGTTCA	0.532000													17	45					5.35267e-07	6.53578e-07	0.007413	1	0
NRCAM	4897	broad.mit.edu	37	7	107818538	107818538	+	Silent	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:107818538A>T	ENST00000379028.3	-	26	3341	c.2871T>A	c.(2869-2871)tcT>tcA	p.S957S	NRCAM_ENST00000425651.2_Silent_p.S957S|NRCAM_ENST00000351718.4_Silent_p.S941S|NRCAM_ENST00000413765.2_Silent_p.S938S|NRCAM_ENST00000379022.4_Silent_p.S957S|NRCAM_ENST00000379024.4_Silent_p.S938S			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	957	Fibronectin type-III 4.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CAATCTTCAAAGACGAGGGAG	0.438000													26	7					0	0	0.004656	0	0
C14orf105	55195	broad.mit.edu	37	14	57957781	57957781	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr14:57957781C>T	ENST00000216445.3	-	2	368	c.232G>A	c.(232-234)Gac>Aac	p.D78N	C14orf105_ENST00000534126.1_Missense_Mutation_p.D78N|C14orf105_ENST00000526336.1_Missense_Mutation_p.D78N|C14orf105_ENST00000422976.2_Missense_Mutation_p.D78N	NM_018168.2	NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	78										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						AAATACATGTCTCTGGATGCT	0.333000													9	40					0	0	0.008291	0	0
SLC2A10	81031	broad.mit.edu	37	20	45355581	45355581	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr20:45355581G>T	ENST00000359271.2	+	3	1617	c.1367G>T	c.(1366-1368)tGg>tTg	p.W456L		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	456						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				AGCTTCAACTGGGCGGCCAAC	0.552000													74	38					1.74474e-33	3.31e-33	0.003610	1	0
OR51D1	390038	broad.mit.edu	37	11	4661045	4661045	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:4661045C>T	ENST00000357605.2	+	1	101	c.25C>T	c.(25-27)Cct>Tct	p.P9S		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTCTTGGTCCCTATCATAGC	0.478000													31	76					0	0	0.010818	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881413	228881413	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:228881413G>T	ENST00000392056.3	-	7	4203	c.4157C>A	c.(4156-4158)tCt>tAt	p.S1386Y	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1386Y	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1386						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTTGCTCAAAGATGACACTGG	0.483000													20	55					2.37509e-13	3.41948e-13	0.010504	1	0
VSIG2	23584	broad.mit.edu	37	11	124621372	124621372	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:124621372C>A	ENST00000403470.1	-	2	221	c.166G>T	c.(166-168)Gcc>Tcc	p.A56S	VSIG2_ENST00000326621.5_Missense_Mutation_p.A56S			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	56	Ig-like V-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		CACTCCAGGGCGAAGCTGTCT	0.632000													20	43					1.00905e-13	1.47476e-13	0.008871	1	0
FANCG	2189	broad.mit.edu	37	9	35074939	35074939	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr9:35074939C>A	ENST00000378643.3	-	12	2112	c.1621G>T	c.(1621-1623)Gtg>Ttg	p.V541L	FANCG_ENST00000476212.1_Intron	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	541					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CACATCTGCACACTGAGGAGG	0.542000			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks					23	90					4.16121e-05	4.65077e-05	0.002780	1	0
AEBP2	121536	broad.mit.edu	37	12	19646919	19646919	+	Splice_Site	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:19646919A>G	ENST00000266508.9	+	4	1174	c.1174_splice	c.e4+1	p.L391_splice	AEBP2_ENST00000360995.4_Splice_Site_p.L175_splice|AEBP2_ENST00000541908.1_Splice_Site_p.L162_splice|AEBP2_ENST00000398864.3_Splice_Site_p.L391_splice	NM_153207.4	NP_694939.2	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	391	Interaction with SUZ12.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					GACGCTCATTACGTAAGTGTT	0.358000													7	7					0	0	0.003080	0	0
FAM133B	257415	broad.mit.edu	37	7	92210862	92210862	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:92210862C>A	ENST00000438306.1	-	3	280	c.50G>T	c.(49-51)gGg>gTg	p.G17V	FAM133B_ENST00000427372.1_Missense_Mutation_p.G17V|FAM133B_ENST00000445716.1_Missense_Mutation_p.G27V	NM_001040057.1	NP_001035146.1	Q5BKY9	F133B_HUMAN	family with sequence similarity 133, member B	27										endometrium(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	4	all_cancers(62;7.39e-11)|all_epithelial(64;7.03e-10)|Breast(17;0.00201)|all_lung(186;0.0384)|Lung NSC(181;0.053)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;9.78e-06)|all cancers(6;1.67e-05)|Epithelial(20;0.113)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TATTGTTGGCCCTGAAGACTG	0.373000													6	38					5.18039e-06	6.05425e-06	0.003080	1	0
TPH2	121278	broad.mit.edu	37	12	72388295	72388295	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:72388295G>A	ENST00000333850.3	+	8	1159	c.1018G>A	c.(1018-1020)Ggt>Agt	p.G340S		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	340					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	ACAAGAAATAGGTCTGGCGTC	0.413000													40	40					0	0	0.006230	0	0
TTN	7273	broad.mit.edu	37	2	179606420	179606420	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:179606420G>T	ENST00000589042.1	-	48	11764	c.11540C>A	c.(11539-11541)cCc>cAc	p.P3847H	TTN_ENST00000591111.1_Missense_Mutation_p.P3530H|TTN_ENST00000359218.5_Missense_Mutation_p.P3609H|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P3484H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P3676H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3530							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)			TTTAGGTTTGGGGATGCCAAT	0.418000													17	71					6.94344e-10	9.06043e-10	0.006122	1	0
ZNF467	168544	broad.mit.edu	37	7	149462853	149462853	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:149462853G>A	ENST00000302017.3	-	5	1151	c.738C>T	c.(736-738)tgC>tgT	p.C246C	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGCACTCCGCGCACGGGTAGG	0.677000													4	23					0	0	0.000602	0	0
SZT2	23334	broad.mit.edu	37	1	43886870	43886870	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:43886870G>T	ENST00000562955.1	+	11	1522	c.1522G>T	c.(1522-1524)Gcc>Tcc	p.A508S		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	508						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCAGATGCTTGCCCACCTTCA	0.567000													72	9					5.29578e-48	1.03602e-47	0.003610	1	0
TTN	7273	broad.mit.edu	37	2	179616287	179616287	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:179616287C>A	ENST00000360870.5	-	46	11062	c.10840G>T	c.(10840-10842)Gaa>Taa	p.E3614*	TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9474							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)			TGTGTCCGTTCTGCTCTTTTC	0.383000													17	109					1.15088e-07	1.42187e-07	0.004007	1	0
VNN2	8875	broad.mit.edu	37	6	133073888	133073888	+	Splice_Site	SNP	A	A	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:133073888A>C	ENST00000326499.6	-	4	662	c.537_splice	c.e4-1	p.Y180_splice	VNN2_ENST00000525289.1_Intron|VNN2_ENST00000525270.1_Splice_Site_p.Y127_splice|RP1-55C23.7_ENST00000430895.1_RNA	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	180	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		TACAGGTGGTACTACAACAAA	0.408000													26	38					0	0	0.004656	0	0
SMIM19	114926	broad.mit.edu	37	8	42401673	42401673	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:42401673G>A	ENST00000438528.3	+	2	107	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	SMIM19_ENST00000417410.2_Missense_Mutation_p.E20K|SMIM19_ENST00000490331.2_Missense_Mutation_p.E20K|SMIM19_ENST00000414154.2_Missense_Mutation_p.E20K|SMIM19_ENST00000529505.1_3'UTR|SMIM19_ENST00000416469.2_Missense_Mutation_p.E20K	NM_001135676.1	NP_001129148.1			small integral membrane protein 19																		TACTGTTCACGAAGCCTGGAA	0.408000													19	25					0	0	0.012319	0	0
DNAJB4	11080	broad.mit.edu	37	1	78481780	78481780	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:78481780G>T	ENST00000370763.5	+	3	1120	c.863G>T	c.(862-864)gGa>gTa	p.G288V	GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_3'UTR	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	288					protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GTGAAACCCGGAATGAGGAGA	0.398000													10	14					0.000442599	0.000475188	0.006214	1	0
ZNF577	84765	broad.mit.edu	37	19	52376759	52376759	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:52376759C>A	ENST00000420592.1	-	6	1640	c.307G>T	c.(307-309)Gtg>Ttg	p.V103L	ZNF577_ENST00000451628.2_Missense_Mutation_p.V103L|ZNF577_ENST00000301399.5_Missense_Mutation_p.V162L|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000412216.1_Intron			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CTCCCGCACACACTGCATTCA	0.443000													64	16					5.10652e-33	9.61498e-33	0.003610	1	0
CDH20	28316	broad.mit.edu	37	18	59203832	59203832	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr18:59203832C>A	ENST00000262717.4	+	8	1776	c.1378C>A	c.(1378-1380)Cat>Aat	p.H460N	CDH20_ENST00000538374.1_Missense_Mutation_p.H460N|CDH20_ENST00000536675.2_Missense_Mutation_p.H460N			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	460	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ATTTTCTTGGCATAATATCAC	0.403000													9	63					0.00448238	0.00470763	0.004482	1	0
HEPACAM2	253012	broad.mit.edu	37	7	92848567	92848567	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:92848567C>G	ENST00000394468.2	-	2	354	c.277G>C	c.(277-279)Gaa>Caa	p.E93Q	HEPACAM2_ENST00000440868.1_Missense_Mutation_p.E81Q|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.E116Q|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.E81Q	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	93						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TGTTGGTATTCCAAGTCAGGA	0.458000													23	35					0	0	0.002299	0	0
IWS1	55677	broad.mit.edu	37	2	128262644	128262644	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:128262644C>G	ENST00000295321.4	-	3	1094	c.835G>C	c.(835-837)Gag>Cag	p.E279Q	IWS1_ENST00000455721.2_Missense_Mutation_p.E286Q|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	279	3 X approximate tandem repeats.|Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GGGGGATCCTCACTTTCCGAA	0.552000													88	105					0	0	0.003610	0	0
MAGI2	9863	broad.mit.edu	37	7	77789350	77789350	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:77789350G>T	ENST00000354212.4	-	16	3090	c.2837C>A	c.(2836-2838)tCc>tAc	p.S946Y	MAGI2_ENST00000522391.1_Missense_Mutation_p.S946Y|MAGI2_ENST00000419488.1_Missense_Mutation_p.S932Y	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	946	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ACTTATAGTGGATCCAGACTC	0.463000													15	29					1.49906e-05	1.71204e-05	0.002450	1	0
OR51A2	401667	broad.mit.edu	37	11	4976505	4976505	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:4976505C>A	ENST00000380371.1	-	1	438	c.439G>T	c.(439-441)Ggg>Tgg	p.G147W	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATACTATCCCTATTTGGGCA	0.423000													20	7					1.08312e-15	1.6727e-15	0.009535	1	0
TTN	7273	broad.mit.edu	37	2	179432053	179432053	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:179432053G>A	ENST00000589042.1	-	326	79030	c.78806C>T	c.(78805-78807)tCc>tTc	p.S26269F	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S24628F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S17329F|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S17204F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S23701F|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S17396F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24628	Fibronectin type-III 91.						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)			TGCAACATTGGAAGCTCTTAA	0.383000													54	204					0	0	0.003610	0	0
OR5D14	219436	broad.mit.edu	37	11	55563407	55563407	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:55563407G>T	ENST00000335605.1	+	1	376	c.376G>T	c.(376-378)Gtg>Ttg	p.V126L		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGACCGCTTTGTGGCCATCTG	0.527000													32	18					2.61193e-14	3.88998e-14	0.009535	1	0
CSMD2	114784	broad.mit.edu	37	1	34192228	34192228	+	Silent	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:34192228A>T	ENST00000373381.4	-	16	2603	c.2427T>A	c.(2425-2427)ccT>ccA	p.P809P		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	769	CUB 5.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGTAGAAGCCAGGCCAGCCCG	0.597000													27	19					0	0	0.006320	0	0
PKHD1	5314	broad.mit.edu	37	6	51613290	51613290	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:51613290T>C	ENST00000371117.3	-	58	9399	c.9124A>G	c.(9124-9126)Att>Gtt	p.I3042V	PKHD1_ENST00000340994.4_Missense_Mutation_p.I3042V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3042					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)					CCAAACACAATATTGTCATTT	0.493000													17	49					0	0	0.004007	0	0
ILDR2	387597	broad.mit.edu	37	1	166904587	166904587	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:166904587C>A	ENST00000271417.3	-	6	886	c.831G>T	c.(829-831)ccG>ccT	p.P277P	ILDR2_ENST00000528703.1_Intron|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000529071.1_Silent_p.P258P|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000469934.2_Silent_p.P277P	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	277						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GAGGTGGATGCGGCTTGTCCA	0.622000													38	46					6.2361e-21	1.05963e-20	0.007835	1	0
HDAC9	9734	broad.mit.edu	37	7	18688206	18688206	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:18688206C>A	ENST00000406451.3	+	11	1508	c.1358C>A	c.(1357-1359)cCt>cAt	p.P453H	HDAC9_ENST00000441542.2_Missense_Mutation_p.P456H|HDAC9_ENST00000406072.1_Missense_Mutation_p.P440H|HDAC9_ENST00000432645.2_Missense_Mutation_p.P453H|HDAC9_ENST00000405010.3_Missense_Mutation_p.P453H|HDAC9_ENST00000456174.2_Missense_Mutation_p.P425H|HDAC9_ENST00000401921.1_Missense_Mutation_p.P412H|HDAC9_ENST00000428307.2_Missense_Mutation_p.P409H|HDAC9_ENST00000524023.1_Missense_Mutation_p.P376H|HDAC9_ENST00000417496.2_Missense_Mutation_p.P451H	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	453					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	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)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CAGTCTGCACCTTTGCCTCAG	0.507000													52	22					7.05377e-20	1.17782e-19	0.003610	1	0
TNFRSF8	943	broad.mit.edu	37	1	12144554	12144554	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:12144554C>A	ENST00000263932.2	+	2	319	c.97C>A	c.(97-99)Ccc>Acc	p.P33T	TNFRSF8_ENST00000417814.2_Intron	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	33					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		TCATGGAAACCCCAGCCACTA	0.592000													12	76					7.93312e-07	9.57472e-07	0.002450	1	0
TRIM10	10107	broad.mit.edu	37	6	30121889	30121889	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:30121889G>C	ENST00000449742.2	-	7	1378	c.1303C>G	c.(1303-1305)Ctt>Gtt	p.L435V	TRIM10_ENST00000376704.3_Intron	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	435	B30.2/SPRY.					cytoplasm	zinc ion binding			ovary(1)	1						TCATAGTCAAGAGACACCCTC	0.612000													21	17					0	0	0.012319	0	0
CPLX2	10814	broad.mit.edu	37	5	175306040	175306040	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:175306040G>C	ENST00000359546.4	+	4	804	c.161G>C	c.(160-162)cGc>cCc	p.R54P	CPLX2_ENST00000393745.3_Missense_Mutation_p.R54P|CPLX2_ENST00000515094.1_Missense_Mutation_p.R54P|CPLX2_ENST00000512824.1_Missense_Mutation_p.R54P	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	complexin 2	54	Interaction with the SNARE complex (By similarity).				mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis	cytosol				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AAGCACGCGCGCATGGAGGCG	0.692000													5	1					0	0	0.000602	0	0
LAMC3	10319	broad.mit.edu	37	9	133914606	133914606	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr9:133914606G>T	ENST00000361069.4	+	6	1387	c.1254G>T	c.(1252-1254)ggG>ggT	p.G418G	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	418	Laminin EGF-like 3.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GTCTGCCCGGGTTCCACTCGC	0.622000													17	6					1.02788e-11	1.41334e-11	0.004990	1	0
FCRL5	83416	broad.mit.edu	37	1	157494195	157494195	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:157494195C>T	ENST00000361835.3	-	10	2270	c.2113G>A	c.(2113-2115)Gcc>Acc	p.A705T	FCRL5_ENST00000356953.4_Missense_Mutation_p.A705T|FCRL5_ENST00000368191.3_Missense_Mutation_p.A620T|FCRL5_ENST00000368190.3_Missense_Mutation_p.A705T	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	705	Ig-like C2-type 7.					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)				CCAGAGGGGGCTGAGATCTTA	0.567000													47	46					0	0	0.003610	0	0
IL5	3567	broad.mit.edu	37	5	131879088	131879088	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:131879088G>T	ENST00000231454.1	-	1	126	c.83C>A	c.(82-84)gCa>gAa	p.A28E		NM_000879.2	NP_000870.1	P05113	IL5_HUMAN	interleukin 5 (colony-stimulating factor, eosinophil)	28					immune response|inflammatory response|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of podosome assembly	extracellular space	cytokine activity|growth factor activity|interleukin-5 receptor binding			endometrium(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Pranlukast(DB01411)	TTTCACCAATGCACTTGTGGG	0.453000													30	14					4.74835e-14	7.03003e-14	0.010818	1	0
ADAM11	4185	broad.mit.edu	37	17	42854956	42854956	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:42854956G>T	ENST00000200557.6	+	22	2057	c.1888G>T	c.(1888-1890)Gag>Tag	p.E630*	ADAM11_ENST00000535346.1_Nonsense_Mutation_p.E430*	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	630	Cys-rich.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CCAGGGCAAGGAGCTGGACTG	0.607000													57	20					1.0442e-30	1.93989e-30	0.003610	1	0
ITGA2B	3674	broad.mit.edu	37	17	42455818	42455818	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:42455818G>C	ENST00000262407.5	-	20	2037	c.2006C>G	c.(2005-2007)gCc>gGc	p.A669G	ITGA2B_ENST00000353281.4_Missense_Mutation_p.A669G	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	669					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	GCCCTCGTTGGCTGCGTCCAT	0.652000													8	10					0	0	0.003080	0	0
KRT5	3852	broad.mit.edu	37	12	52913994	52913994	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:52913994G>T	ENST00000252242.4	-	1	477	c.87C>A	c.(85-87)cgC>cgA	p.R29R		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	29	Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	p.R29R(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGAAGCTGGTGCGGGAGACAG	0.662000													10	46					1.76689e-08	2.2313e-08	0.006214	1	0
ASTN2	23245	broad.mit.edu	37	9	119568059	119568059	+	Missense_Mutation	SNP	A	A	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr9:119568059A>C	ENST00000313400.4	-	13	2348	c.2248T>G	c.(2248-2250)Tgc>Ggc	p.C750G	ASTN2_ENST00000373996.3_Missense_Mutation_p.C746G|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.C699G			O75129	ASTN2_HUMAN	astrotactin 2	750	EGF-like 3.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGCATTAAGCAGGATTTTCCA	0.473000													63	20					0	0	0.003610	0	0
EXOC8	149371	broad.mit.edu	37	1	231472716	231472716	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:231472716C>A	ENST00000366645.1	-	1	882	c.764G>T	c.(763-765)aGc>aTc	p.S255I	EXOC8_ENST00000360394.2_Missense_Mutation_p.S259I			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	259	PH.				exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GAAAATACGGCTCTCGGGGAA	0.522000													53	19					3.50607e-19	5.81562e-19	0.003610	1	0
F13B	2165	broad.mit.edu	37	1	197026446	197026446	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:197026446C>T	ENST00000367412.1	-	6	998	c.955G>A	c.(955-957)Gga>Aga	p.G319R		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	319	Sushi 5.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GTCCATTTTCCATCTTCACAA	0.358000													21	71					0	0	0.002780	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70728531	70728531	+	Splice_Site	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:70728531C>A	ENST00000370944.4	-	13	1809		c.e13-1		ANKRD13C_ENST00000464236.1_Intron|ANKRD13C_ENST00000262346.6_Splice_Site	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C						protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						ACAGGTATATCTACAGAGAGA	0.343000													13	18					5.50884e-06	6.39637e-06	0.001368	1	0
TCF20	6942	broad.mit.edu	37	22	42606592	42606592	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr22:42606592C>G	ENST00000359486.3	-	1	4856	c.4720G>C	c.(4720-4722)Gag>Cag	p.E1574Q	TCF20_ENST00000335626.4_Missense_Mutation_p.E1574Q	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1574					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGCTTTGGCTCTCCATCTGCA	0.547000													53	19					0	0	0.003610	0	0
HERC2P3	283755	broad.mit.edu	37	15	20644533	20644533	+	RNA	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr15:20644533C>T	ENST00000428453.1	-	0	3187																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TGGCACTACACGGCTCTTCAC	0.637000													3	5					0	0	0.004672	0	0
ZNF645	158506	broad.mit.edu	37	X	22291375	22291375	+	Silent	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chrX:22291375A>T	ENST00000323684.1	+	1	311	c.267A>T	c.(265-267)ggA>ggT	p.G89G		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	89						intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						ACAAAGTCGGATATAAAGTAT	0.403000													23	15					0	0	0.003954	0	0
PRRX1	5396	broad.mit.edu	37	1	170695468	170695468	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:170695468G>T	ENST00000239461.6	+	3	838	c.525G>T	c.(523-525)gtG>gtT	p.V175V	PRRX1_ENST00000497230.2_Silent_p.V175V|PRRX1_ENST00000367760.3_Silent_p.V175V|PRRX1_ENST00000476867.2_3'UTR	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	175						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)					TGACTGCTGTGGAGCAGCCCA	0.557000													24	46					4.16121e-05	4.65077e-05	0.002780	1	0
FAM124B	79843	broad.mit.edu	37	2	225266347	225266347	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:225266347G>T	ENST00000389874.3	-	1	364	c.139C>A	c.(139-141)Cgg>Agg	p.R47R	FAM124B_ENST00000409685.3_Silent_p.R47R|FAM124B_ENST00000243806.2_Silent_p.R47R	NM_024785.2	NP_079061.2	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	47							protein binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		GGACTGGCCCGTTCAGACACC	0.572000													10	39					2.80697e-09	3.61762e-09	0.010729	1	0
C20orf26	26074	broad.mit.edu	37	20	20232362	20232362	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr20:20232362C>G	ENST00000245957.5	+	20	2359	c.2283C>G	c.(2281-2283)atC>atG	p.I761M	C20orf26_ENST00000377293.1_Missense_Mutation_p.I117M|C20orf26_ENST00000377309.2_Missense_Mutation_p.I117M|C20orf26_ENST00000389656.3_Missense_Mutation_p.I117M	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	761										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CGGACGAGATCGTGCCCTACG	0.597000													58	75					0	0	0.003610	0	0
RYR3	6263	broad.mit.edu	37	15	33895566	33895566	+	Splice_Site	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr15:33895566G>T	ENST00000389232.4	+	18	2234		c.e18+1		RYR3_ENST00000415757.3_Splice_Site	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						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)		CTTTGGTCAGGTGAGTACCTT	0.468000													103	89					3.22635e-48	6.33152e-48	0.003610	1	0
TEF	7008	broad.mit.edu	37	22	41783370	41783370	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr22:41783370A>T	ENST00000266304.4	+	2	289	c.173A>T	c.(172-174)aAg>aTg	p.K58M	TEF_ENST00000406644.3_Missense_Mutation_p.K28M	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	58					rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						GAAAAGGGGAAGGAAAAGCTG	0.557000													9	32					0	0	0.004482	0	0
MUC16	94025	broad.mit.edu	37	19	9084550	9084550	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:9084550G>T	ENST00000397910.4	-	1	7468	c.7265C>A	c.(7264-7266)aCa>aAa	p.T2422K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2422	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCTGTATTTGTCTCTGTTGT	0.498000													16	9					4.7546e-09	6.09017e-09	0.004007	1	0
MYBPC3	4607	broad.mit.edu	37	11	47360203	47360203	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:47360203G>A	ENST00000545968.1	-	23	2230	c.2176C>T	c.(2176-2178)Cgc>Tgc	p.R726C	MYBPC3_ENST00000256993.4_Missense_Mutation_p.R725C|MYBPC3_ENST00000399249.2_Missense_Mutation_p.R726C	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	725	Ig-like C2-type 5.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GTCTCCACGCGGACCCGGCCC	0.642000													16	5					0	0	0.004990	0	0
KIAA0430	9665	broad.mit.edu	37	16	15728691	15728691	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr16:15728691C>A	ENST00000396368.3	-	4	1135	c.929G>T	c.(928-930)gGc>gTc	p.G310V	KIAA0430_ENST00000344181.3_Missense_Mutation_p.G132V|KIAA0430_ENST00000551742.1_Missense_Mutation_p.G310V|KIAA0430_ENST00000548025.1_Missense_Mutation_p.G310V|KIAA0430_ENST00000540441.2_Missense_Mutation_p.G310V|KIAA0430_ENST00000602337.1_Missense_Mutation_p.G310V	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	309						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GGTTCCACAGCCATTACACAG	0.458000													47	61					6.68952e-21	1.13514e-20	0.013114	1	0
WDR12	55759	broad.mit.edu	37	2	203765834	203765834	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:203765834T>C	ENST00000261015.3	-	3	894	c.145A>G	c.(145-147)Aaa>Gaa	p.K49E	WDR12_ENST00000477723.1_5'UTR	NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12	49					cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TCCACATGTTTGTGGAACTCT	0.373000													8	13					0	0	0.006214	0	0
RANBP2	5903	broad.mit.edu	37	2	109388981	109388981	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:109388981G>T	ENST00000283195.6	+	22	8183	c.8057G>T	c.(8056-8058)gGa>gTa	p.G2686V		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2686	2 X 50 AA approximate repeats.|Interaction with SUMO1.|Required for E3 SUMO-ligase activity.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AAACTTAATGGAAAACTATAT	0.323000													15	15					1.02788e-11	1.41334e-11	0.004990	1	0
PTPRC	5788	broad.mit.edu	37	1	198703512	198703512	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:198703512C>A	ENST00000367376.2	+	22	2400	c.2229C>A	c.(2227-2229)gcC>gcA	p.A743A	PTPRC_ENST00000442510.2_Silent_p.A745A|PTPRC_ENST00000352140.3_Silent_p.A695A|PTPRC_ENST00000594404.1_Silent_p.A582A|PTPRC_ENST00000348564.6_Silent_p.A584A	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	743	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AACAGAAAGCCACAGTTATTG	0.393000													131	196					8.25677e-62	1.6461e-61	0.003610	1	0
ZNF91	7644	broad.mit.edu	37	19	23543273	23543273	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:23543273C>A	ENST00000300619.7	-	4	2713	c.2508G>T	c.(2506-2508)aaG>aaT	p.K836N	ZNF91_ENST00000397082.2_Missense_Mutation_p.K804N|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	836						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CTGAGGAGTGCTTAAAAGCTT	0.378000													18	37					2.35188e-11	3.20224e-11	0.006122	1	0
SP140	11262	broad.mit.edu	37	2	231174726	231174726	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:231174726T>C	ENST00000392045.3	+	23	2260	c.2146T>C	c.(2146-2148)Tgt>Cgt	p.C716R	SP140_ENST00000343805.6_Missense_Mutation_p.C656R|SP140_ENST00000350136.5_Missense_Mutation_p.C585R|SP140_ENST00000420434.3_Missense_Mutation_p.C689R|SP140_ENST00000417495.3_Missense_Mutation_p.C602R|SP140_ENST00000486687.2_Missense_Mutation_p.C640R	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	716					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CCATGAGGACTGTCACATCCC	0.517000													17	61					0	0	0.004990	0	0
CCDC135	84229	broad.mit.edu	37	16	57760145	57760145	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr16:57760145A>T	ENST00000360716.3	+	14	2145	c.1924A>T	c.(1924-1926)Agc>Tgc	p.S642C	CCDC135_ENST00000394337.4_Missense_Mutation_p.S642C|CCDC135_ENST00000336825.8_Missense_Mutation_p.S577C			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	642						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CGAGGTGGACAGCAAAGGCAA	0.662000													23	9					0	0	0.003330	0	0
CSMD3	114788	broad.mit.edu	37	8	113516144	113516144	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:113516144G>T	ENST00000297405.5	-	30	5202	c.4958C>A	c.(4957-4959)cCa>cAa	p.P1653Q	CSMD3_ENST00000343508.3_Missense_Mutation_p.P1613Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.P1549Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.P1653Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1653	CUB 9.					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						TCCAATCAGTGGGCTATTACT	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			64	34					3.13743e-37	6.03426e-37	0.003610	1	0
DLG2	1740	broad.mit.edu	37	11	83180382	83180382	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:83180382A>T	ENST00000398309.2	-	20	2636	c.2166T>A	c.(2164-2166)gaT>gaA	p.D722E	DLG2_ENST00000404783.3_Missense_Mutation_p.D200E|DLG2_ENST00000376104.2_Missense_Mutation_p.D827E|DLG2_ENST00000426717.2_Missense_Mutation_p.D186E|DLG2_ENST00000532653.1_Missense_Mutation_p.D704E|DLG2_ENST00000524982.1_Missense_Mutation_p.D718E|DLG2_ENST00000330014.6_Missense_Mutation_p.D643E|DLG2_ENST00000531015.1_Missense_Mutation_p.D689E|DLG2_ENST00000418306.2_Missense_Mutation_p.D601E|DLG2_ENST00000280241.8_Missense_Mutation_p.D761E|DLG2_ENST00000543673.1_Missense_Mutation_p.D827E|DLG2_ENST00000376106.3_Missense_Mutation_p.D186E|DLG2_ENST00000537455.1_Missense_Mutation_p.D472E	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	722	Guanylate kinase-like.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AGTCTCTGCCATCCACCTCGT	0.363000													9	62					0	0	0.006214	0	0
PCLO	27445	broad.mit.edu	37	7	82390062	82390062	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:82390062G>T	ENST00000333891.8	-	24	15518	c.15181C>A	c.(15181-15183)Caa>Aaa	p.Q5061K		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4984					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACCTTTTTTTGGGTAGAAATA	0.303000													10	8					1.76689e-08	2.2313e-08	0.006214	1	0
LMX1A	4009	broad.mit.edu	37	1	165175199	165175199	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:165175199T>A	ENST00000342310.3	-	8	1272	c.890A>T	c.(889-891)cAg>cTg	p.Q297L	LMX1A_ENST00000294816.2_Missense_Mutation_p.Q297L|LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000367893.4_Missense_Mutation_p.Q297L	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	297						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CAGGAGCTGCTGTGGGGTGGG	0.577000													38	34					0	0	0.006230	0	0
EVC2	132884	broad.mit.edu	37	4	5642297	5642297	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr4:5642297T>A	ENST00000310917.2	-	10	1905	c.1174A>T	c.(1174-1176)Aga>Tga	p.R392*	EVC2_ENST00000344408.5_Nonsense_Mutation_p.R472*|EVC2_ENST00000344938.1_Nonsense_Mutation_p.R472*	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	472						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						ATCATCTCTCTCTGGTACTGG	0.468000													136	49					0	0	0.003610	0	0
KCNC2	3747	broad.mit.edu	37	12	75601539	75601539	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:75601539G>T	ENST00000549446.1	-	2	905	c.225C>A	c.(223-225)ggC>ggA	p.G75G	KCNC2_ENST00000298972.1_Silent_p.G75G|KCNC2_ENST00000341669.3_Silent_p.G75G|KCNC2_ENST00000540018.1_Silent_p.G75G|KCNC2_ENST00000350228.2_Silent_p.G75G|KCNC2_ENST00000548513.1_Silent_p.G75G|KCNC2_ENST00000550433.1_Silent_p.G75G|KCNC2_ENST00000393288.2_Silent_p.G75G	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	75	Gly/Pro-rich (insert).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CGAAGCAGCCGCCTGGCCCGg	0.766000													8	15					5.18039e-06	6.05425e-06	0.003080	1	0
OR4L1	122742	broad.mit.edu	37	14	20529045	20529045	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr14:20529045T>C	ENST00000315683.1	+	1	842	c.842T>C	c.(841-843)tTa>tCa	p.L281S		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		ATCACACCCTTACTGAATCCG	0.353000													9	21					0	0	0.001368	0	0
TPO	7173	broad.mit.edu	37	2	1457524	1457524	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:1457524T>C	ENST00000345913.4	+	6	632	c.541T>C	c.(541-543)Tat>Cat	p.Y181H	TPO_ENST00000382198.1_Missense_Mutation_p.Y181H|TPO_ENST00000382201.3_Missense_Mutation_p.Y181H|TPO_ENST00000346956.3_Missense_Mutation_p.Y181H|TPO_ENST00000337415.3_Missense_Mutation_p.Y181H|TPO_ENST00000329066.4_Missense_Mutation_p.Y181H|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.Y181H	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	181					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)	CCCTCCAGTCTATGAGGACGG	0.602000													57	41					0	0	0.003610	0	0
CRB1	23418	broad.mit.edu	37	1	197390502	197390502	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:197390502A>T	ENST00000367400.3	+	6	1679	c.1544A>T	c.(1543-1545)cAg>cTg	p.Q515L	CRB1_ENST00000538660.1_Missense_Mutation_p.Q515L|CRB1_ENST00000543483.1_Missense_Mutation_p.Q214L|CRB1_ENST00000367399.2_Missense_Mutation_p.Q403L|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000535699.1_Missense_Mutation_p.Q446L	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	515	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTCAGGTTTCAGACTGTTCAG	0.478000													33	50					0	0	0.012213	0	0
CACNA1E	777	broad.mit.edu	37	1	181765968	181765968	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:181765968G>T	ENST00000526775.1	+	45	6352	c.6187G>T	c.(6187-6189)Ggc>Tgc	p.G2063C	CACNA1E_ENST00000367573.2_Missense_Mutation_p.G2125C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G2014C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G2106C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G2082C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G1689C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G2076C	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2125					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACCCAGTGAGGGCAGGTCACA	0.587000													3	8					0.004672	0.00489857	0.004672	1	0
CHST2	9435	broad.mit.edu	37	3	142840050	142840050	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:142840050C>G	ENST00000309575.3	+	2	1776	c.392C>G	c.(391-393)gCc>gGc	p.A131G		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	131					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CCTCCCGCTGCCGCCGTCGGG	0.786000													7	3					0	0	0.010729	0	0
ADRA1D	146	broad.mit.edu	37	20	4228916	4228916	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr20:4228916C>A	ENST00000379453.4	-	1	805	c.689G>T	c.(688-690)gGg>gTg	p.G230V		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	230					cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	CAGCAGGGGCCCTACGGACAC	0.677000													4	9					0.00909568	0.0094577	0.009096	1	0
COL2A1	1280	broad.mit.edu	37	12	48367957	48367957	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:48367957A>G	ENST00000380518.3	-	53	4396	c.4232T>C	c.(4231-4233)cTg>cCg	p.L1411P	COL2A1_ENST00000337299.6_Missense_Mutation_p.L1342P|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1411	Fibrillar collagen NC1.				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)	CTGGATGAGCAGGGCCTTCTT	0.592000													11	73					0	0	0.010729	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496662	20496662	+	RNA	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr15:20496662G>T	ENST00000555186.1	+	0	715					NR_038836.1																						CAAAGCGCCCGGCTGTGTGTG	0.438000													5	22					0.00116845	0.00123857	0.001168	1	0
ARHGAP36	158763	broad.mit.edu	37	X	130217883	130217883	+	Missense_Mutation	SNP	T	T	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chrX:130217883T>G	ENST00000276211.5	+	4	840	c.495T>G	c.(493-495)ttT>ttG	p.F165L	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.F29L|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.F153L	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	165	Arg-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TCCGGCGCTTTTTCAGTCGCA	0.632000													45	17					0	0	0.009718	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128846491	128846491	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:128846491C>A	ENST00000310343.9	-	19	2118	c.2119G>T	c.(2119-2121)Gag>Tag	p.E707*	ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.E358*|ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.E358*|ARHGAP32_ENST00000524655.1_Nonsense_Mutation_p.E633*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	707					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						AGAGACTCCTCACTTTTAGCT	0.363000													29	23					2.08457e-15	3.19957e-15	0.010818	1	0
MICAL3	57553	broad.mit.edu	37	22	18300793	18300793	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr22:18300793G>T	ENST00000441493.2	-	26	4986	c.4634C>A	c.(4633-4635)aCg>aAg	p.T1545K		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1545						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGACGGGGGCGTGAAGAATTT	0.627000													13	25					1.5842e-08	2.00868e-08	0.001855	1	0
FAM117A	81558	broad.mit.edu	37	17	47788741	47788741	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:47788741C>T	ENST00000240364.2	-	8	1317	c.1238G>A	c.(1237-1239)aGc>aAc	p.S413N	FAM117A_ENST00000513602.1_Missense_Mutation_p.S141N|RP11-613C6.2_ENST00000512720.1_RNA	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	413	Pro-rich.									haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						TGGCCTGGGGCTGGCCGGGGG	0.647000													12	21					0	0	0.003163	0	0
COL5A1	1289	broad.mit.edu	37	9	137704345	137704345	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr9:137704345G>T	ENST00000371817.3	+	47	4155	c.3741G>T	c.(3739-3741)caG>caT	p.Q1247H		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1247	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACGTGGGCCAGATGGTAAGTG	0.537000													34	17					2.51541e-25	4.50618e-25	0.004878	1	0
SEMA3D	223117	broad.mit.edu	37	7	84636136	84636136	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:84636136C>A	ENST00000284136.6	-	16	1933	c.1890G>T	c.(1888-1890)ggG>ggT	p.G630G	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	630	Ig-like C2-type.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						GATGCTCATCCCCTGACCTCT	0.373000													57	46					3.30712e-30	6.12574e-30	0.003610	1	0
FAAH2	158584	broad.mit.edu	37	X	57337123	57337123	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chrX:57337123G>T	ENST00000374900.4	+	3	493	c.373G>T	c.(373-375)Ggg>Tgg	p.G125W		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	125						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GCCCTTCCTTGGGGTTCCTTT	0.418000										HNSCC(52;0.14)			14	6					1.3612e-06	1.62877e-06	0.003163	1	0
KIAA0226	9711	broad.mit.edu	37	3	197402066	197402066	+	Splice_Site	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:197402066C>A	ENST00000273582.5	-	21	3152	c.2605_splice	c.e21-1	p.E869_splice	KIAA0226_ENST00000296343.5_Splice_Site_p.E914_splice	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	914					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		ACGCTTTACACTCTACTCAGG	0.582000													14	35					0.00185496	0.00196131	0.001855	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110539098	110539098	+	Silent	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:110539098T>C	ENST00000378402.5	+	77	12674	c.12570T>C	c.(12568-12570)tcT>tcC	p.S4190S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4190	Poly-Ser.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTCTGTCTCTagcagtggca	0.418000										HNSCC(38;0.096)			8	15					0	0	0.003080	0	0
CDH10	1008	broad.mit.edu	37	5	24535924	24535924	+	Silent	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:24535924A>T	ENST00000264463.4	-	4	1041	c.534T>A	c.(532-534)tcT>tcA	p.S178S		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	178	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S178S(1)		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)		CTTGCACCACAGAAGTACCTG	0.458000										HNSCC(23;0.051)			15	53					0	0	0.003163	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576396	33576396	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:33576396G>T	ENST00000504830.1	-	19	4070	c.3735C>A	c.(3733-3735)gcC>gcA	p.A1245A	ADAMTS12_ENST00000352040.3_Silent_p.A1160A	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1245	Spacer 2.				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						GCAGAGTGTTGGCTGGCTTTT	0.532000										HNSCC(64;0.19)			68	276					1.72039e-30	3.19137e-30	0.003610	1	0
POLE	5426	broad.mit.edu	37	12	133226046	133226046	+	Missense_Mutation	SNP	C	C	A	rs149462407	byFrequency	TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:133226046C>A	ENST00000320574.5	-	31	3894	c.3851G>T	c.(3850-3852)cGg>cTg	p.R1284L	POLE_ENST00000535270.1_Missense_Mutation_p.R1257L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1284					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GAGGCGCTGCCGGGCCTGCAG	0.667000								DNA polymerases (catalytic subunits)					46	28					2.43468e-25	4.3678e-25	0.003610	1	0
PCK1	5105	broad.mit.edu	37	20	56139388	56139388	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr20:56139388G>T	ENST00000319441.4	+	7	1289	c.1125G>T	c.(1123-1125)gaG>gaT	p.E375D	PCK1_ENST00000543666.1_Missense_Mutation_p.E58D|PCK1_ENST00000535860.1_Missense_Mutation_p.E243D	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	375					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GCATTGATGAGCCGCTAGCTT	0.562000													26	28					3.7963e-18	6.20674e-18	0.003330	1	0
XIRP2	129446	broad.mit.edu	37	2	167760382	167760382	+	Silent	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:167760382A>T	ENST00000409195.1	+	2	479	c.390A>T	c.(388-390)ccA>ccT	p.P130P	XIRP2_ENST00000420519.1_Silent_p.P130P|XIRP2_ENST00000409728.1_Silent_p.P130P|XIRP2_ENST00000295237.9_Silent_p.P130P|XIRP2_ENST00000409043.1_Silent_p.P130P|XIRP2_ENST00000409756.2_Silent_p.P130P	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					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						GAAACAAACCAGCTGAGTACG	0.458000													13	55					0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179444017	179444017	+	Silent	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:179444017T>C	ENST00000589042.1	-	320	67964	c.67740A>G	c.(67738-67740)ccA>ccG	p.P22580P	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.P20939P|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.P13640P|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.P13515P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Silent_p.P20012P|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.P13707P|RP11-171I2.2_ENST00000603521.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20939							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)			AGGAGACTGATGGAGCTGGCT	0.458000													23	63					0	0	0.003954	0	0
TMEM132E	124842	broad.mit.edu	37	17	32953473	32953473	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:32953473G>T	ENST00000321639.5	+	2	723	c.395G>T	c.(394-396)cGc>cTc	p.R132L		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	132						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TTCATCGTCCGCTCGCACGTG	0.701000													9	14					7.48243e-07	9.03947e-07	0.006214	1	0
ADGRG6	57211	broad.mit.edu	37	6	142759436	142759436	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:142759436C>T	ENST00000230173.6	+	24	3985	c.3509C>T	c.(3508-3510)tCa>tTa	p.S1170L	GPR126_ENST00000367609.3_Missense_Mutation_p.S1170L|GPR126_ENST00000367608.2_Missense_Mutation_p.S1142L|GPR126_ENST00000296932.8_Missense_Mutation_p.S1142L	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	1170	Ser-rich.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GGTTCCAACTCAACCTATCTT	0.358000													11	2					0	0	0.001368	0	0
TMEM145	284339	broad.mit.edu	37	19	42821921	42821921	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:42821921G>T	ENST00000598766.1	+	12	1033	c.1033G>T	c.(1033-1035)Gga>Tga	p.G345*	TMEM145_ENST00000301204.3_Nonsense_Mutation_p.G321*			Q8NBT3	TM145_HUMAN	transmembrane protein 145	321						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CGGGCTCATTGGACTGCAGGT	0.577000													28	10					4.87955e-14	7.20726e-14	0.005443	1	0
RIMBP2	23504	broad.mit.edu	37	12	130963550	130963550	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:130963550C>T	ENST00000261655.4	-	3	172	c.9G>A	c.(7-9)gaG>gaA	p.E3E	RIMBP2_ENST00000535703.1_5'UTR|RIMBP2_ENST00000536002.1_5'UTR	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	3						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GTTCAGCCGCCTCTCGCATAT	0.612000													45	28					0	0	0.003610	0	0
TBC1D4	9882	broad.mit.edu	37	13	75863090	75863090	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr13:75863090C>A	ENST00000377636.3	-	20	3989	c.3643G>T	c.(3643-3645)Gac>Tac	p.D1215Y	TBC1D4_ENST00000425511.1_Missense_Mutation_p.D379Y|TBC1D4_ENST00000431480.2_Missense_Mutation_p.D1207Y|TBC1D4_ENST00000377625.2_Missense_Mutation_p.D1152Y	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1215						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TCTAGGAGGTCCATGTTTTGT	0.408000													11	26					0.000151284	0.000166267	0.001855	1	0
ZIC3	7547	broad.mit.edu	37	X	136648931	136648931	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chrX:136648931G>T	ENST00000287538.5	+	1	631	c.81G>T	c.(79-81)atG>atT	p.M27I	ZIC3_ENST00000370606.3_Missense_Mutation_p.M27I	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	27					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					ACCACGAGATGCCCAACCGTG	0.721000													5	1					0.000602214	0.000644899	0.000602	1	0
CCDC135	84229	broad.mit.edu	37	16	57752386	57752386	+	Splice_Site	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr16:57752386T>C	ENST00000360716.3	+	9	1426	c.1206_splice	c.e9+1	p.L402_splice	CCDC135_ENST00000394337.4_Splice_Site_p.L402_splice|CCDC135_ENST00000336825.8_Splice_Site_p.L337_splice			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	402						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GTGGAAAATCTGGTGAGTCTC	0.537000													63	28					0	0	0.003610	0	0
DNAH3	55567	broad.mit.edu	37	16	21078605	21078605	+	Splice_Site	SNP	T	T	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr16:21078605T>G	ENST00000261383.3	-	24	3516	c.3518_splice	c.e24+1	p.R1173_splice	DNAH3_ENST00000415178.1_Splice_Site_p.R1173_splice	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1173	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCTGGATACCTGGGGAAGAAT	0.423000													20	26					0	0	0.008871	0	0
CCDC27	148870	broad.mit.edu	37	1	3669273	3669273	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:3669273G>T	ENST00000294600.2	+	1	312	c.228G>T	c.(226-228)cgG>cgT	p.R76R		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	76										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TGGCCAGCCGGGACGCCCGGT	0.622000													18	60					1.2644e-06	1.52036e-06	0.010504	1	0
DNAH3	55567	broad.mit.edu	37	16	20981275	20981275	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr16:20981275G>A	ENST00000261383.3	-	52	8296	c.8297C>T	c.(8296-8298)gCa>gTa	p.A2766V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2766	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGCCTCGAGTGCAGGCATTGC	0.607000													23	79					0	0	0.003954	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776298	77776298	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:77776298C>A	ENST00000521891.2	+	11	10796	c.10348C>A	c.(10348-10350)Ctt>Att	p.L3450I	ZFHX4_ENST00000050961.6_Missense_Mutation_p.L3401I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L3405I|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L3424I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3401						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)			ATATCAGTGTCTTGCCTGTGA	0.453000										HNSCC(33;0.089)			20	63					1.64113e-05	1.87089e-05	0.010504	1	0
EPHA3	2042	broad.mit.edu	37	3	89391031	89391031	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:89391031G>T	ENST00000336596.2	+	5	1322	c.1097G>T	c.(1096-1098)tGt>tTt	p.C366F	EPHA3_ENST00000494014.1_Missense_Mutation_p.C366F|EPHA3_ENST00000452448.2_Missense_Mutation_p.C366F	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	366	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGTAAAAAATGTGGGTGGAAT	0.478000										TSP Lung(6;0.00050)			19	33					2.39187e-15	3.66228e-15	0.008871	1	0
THSD7B	80731	broad.mit.edu	37	2	138033543	138033543	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:138033543G>T	ENST00000409968.1	+	12	2625	c.2447G>T	c.(2446-2448)tGg>tTg	p.W816L	THSD7B_ENST00000272643.3_Missense_Mutation_p.W816L|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.W785L					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAGTCTGTCTGGCAGGGAATA	0.413000													8	22					3.86212e-05	4.32419e-05	0.008291	1	0
PHIP	55023	broad.mit.edu	37	6	79695070	79695070	+	Splice_Site	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:79695070T>A	ENST00000275034.4	-	22	2703	c.2537_splice	c.e22+1	p.S846_splice		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	846					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TTCATTTACCTAGAACTGCCA	0.363000													13	30					0	0	0.002450	0	0
FGL1	2267	broad.mit.edu	37	8	17731968	17731968	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:17731968G>T	ENST00000398056.2	-	6	1122	c.307C>A	c.(307-309)Cag>Aag	p.Q103K	FGL1_ENST00000381840.2_Missense_Mutation_p.Q103K|FGL1_ENST00000518650.1_Missense_Mutation_p.Q103K|FGL1_ENST00000427924.1_Missense_Mutation_p.Q103K|FGL1_ENST00000381841.2_Missense_Mutation_p.Q103K|FGL1_ENST00000398054.1_Missense_Mutation_p.Q103K|FGL1_ENST00000522444.1_Missense_Mutation_p.Q103K			Q08830	FGL1_HUMAN	fibrinogen-like 1	103	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		GCTGGGCTCTGGAGAGGTTTG	0.378000													57	16					3.84483e-29	7.06953e-29	0.003610	1	0
EFR3A	23167	broad.mit.edu	37	8	132957094	132957094	+	Silent	SNP	A	A	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:132957094A>C	ENST00000254624.5	+	3	415	c.190A>C	c.(190-192)Agg>Cgg	p.R64R	EFR3A_ENST00000334503.4_Silent_p.R64R|EFR3A_ENST00000519656.1_Silent_p.R28R	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	64						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			AAGGTTGAGCAGGGATGTTGT	0.373000													5	31					0	0	0.001168	0	0
DPPA2	151871	broad.mit.edu	37	3	109019251	109019251	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:109019251C>T	ENST00000478945.1	-	8	1132	c.886G>A	c.(886-888)Gta>Ata	p.V296I		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	296						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TACTTCTCTACTGTCATTAAT	0.348000													18	108					0	0	0.002780	0	0
TTN	7273	broad.mit.edu	37	2	179439643	179439643	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:179439643A>G	ENST00000589042.1	-	326	71440	c.71216T>C	c.(71215-71217)gTt>gCt	p.V23739A	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V22098A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V14799A|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V14674A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V21171A|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V14866A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22098	Fibronectin type-III 72.						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)			ATCAGATGAAACTTCATCAAA	0.443000													10	25					0	0	0.008291	0	0
TENM2	57451	broad.mit.edu	37	5	167643927	167643927	+	Splice_Site	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:167643927G>T	ENST00000519204.1	+	21	3988	c.3870_splice	c.e21+1	p.Q1290_splice	TENM2_ENST00000545108.1_Splice_Site_p.Q1410_splice|TENM2_ENST00000403607.2_Splice_Site_p.Q1235_splice|TENM2_ENST00000518659.1_Splice_Site_p.Q1411_splice|TENM2_ENST00000520394.1_Splice_Site_p.Q1172_splice					teneurin transmembrane protein 2																		ATGTAGCCCAGGTGAGACTCT	0.532000													30	10					3.03874e-20	5.10118e-20	0.003271	1	0
HMCN1	83872	broad.mit.edu	37	1	186064396	186064396	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:186064396C>A	ENST00000271588.4	+	68	10545	c.10316C>A	c.(10315-10317)tCa>tAa	p.S3439*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.S3439*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3439	Ig-like C2-type 33.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.S3439*(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGGACAATTCAATGGGGACA	0.383000													25	31					7.01153e-11	9.4037e-11	0.007291	1	0
DLG1	1739	broad.mit.edu	37	3	196812495	196812495	+	Silent	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:196812495T>A	ENST00000346964.2	-	17	2082	c.1893A>T	c.(1891-1893)ccA>ccT	p.P631P	DLG1_ENST00000452595.1_Silent_p.P515P|DLG1_ENST00000450955.1_Silent_p.P598P|DLG1_ENST00000448528.2_Silent_p.P631P|DLG1_ENST00000443183.1_Silent_p.P515P|DLG1_ENST00000422288.1_Silent_p.P580P|DLG1_ENST00000419354.1_Silent_p.P631P|DLG1_ENST00000392382.2_Silent_p.P598P|DLG1_ENST00000357674.4_Silent_p.P598P|DLG1_ENST00000314062.3_Silent_p.P580P	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	631	SH3.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TCTCACCATCTGGTGTAACCT	0.448000													34	36					0	0	0.003271	0	0
SERPINB2	5055	broad.mit.edu	37	18	61564427	61564427	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr18:61564427G>T	ENST00000457692.1	+	5	724	c.391G>T	c.(391-393)Ggt>Tgt	p.G131C	SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000299502.4_Missense_Mutation_p.G131C	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	131					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)	TAAGCTGTTTGGTGAGAAGTC	0.423000													38	10					3.62531e-18	5.9349e-18	0.004289	1	0
CFH	3075	broad.mit.edu	37	1	196643001	196643001	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:196643001C>G	ENST00000367429.4	+	3	499	c.259C>G	c.(259-261)Cat>Gat	p.H87D	CFH_ENST00000439155.2_Missense_Mutation_p.H87D|CFH_ENST00000359637.2_Missense_Mutation_p.H87D	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	87	Sushi 2.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GCCCTGTGGACATCCTGGAGA	0.348000													13	66					0	0	0.002450	0	0
KDM4E	390245	broad.mit.edu	37	11	94759534	94759534	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:94759534C>T	ENST00000450979.2	+	1	1113	c.813C>T	c.(811-813)acC>acT	p.T271T		NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN	lysine (K)-specific demethylase 4E	271	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						TCATGGTGACCTTTCCCTATG	0.502000													11	33					0	0	0.010729	0	0
EPHB1	2047	broad.mit.edu	37	3	134911548	134911548	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:134911548C>G	ENST00000398015.3	+	11	2383	c.2013C>G	c.(2011-2013)atC>atG	p.I671M	EPHB1_ENST00000493838.1_Missense_Mutation_p.I232M	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	671	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			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						AGGCGAGCATCATGGGCCAGT	0.542000													10	33					0	0	0.001368	0	0
CACNA2D1	781	broad.mit.edu	37	7	81693628	81693628	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:81693628C>A	ENST00000356860.3	-	9	1109	c.771G>T	c.(769-771)ctG>ctT	p.L257L	CACNA2D1_ENST00000423588.1_Silent_p.L257L|CACNA2D1_ENST00000356253.5_Silent_p.L257L	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	257	VWFA.					voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	ACACATCCACCAGAATAAGCA	0.328000													9	7					3.86212e-05	4.32419e-05	0.008291	1	0
BOD1L1	259282	broad.mit.edu	37	4	13603773	13603773	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr4:13603773G>A	ENST00000040738.5	-	10	4886	c.4751C>T	c.(4750-4752)aCt>aTt	p.T1584I		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1584							DNA binding										AGCAAAAACAGTGCATTCACT	0.483000													10	26					0	0	0.008291	0	0
CLPB	81570	broad.mit.edu	37	11	72012963	72012963	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:72012963C>A	ENST00000294053.3	-	12	1476	c.1303G>T	c.(1303-1305)Gag>Tag	p.E435*	CLPB_ENST00000340729.5_Nonsense_Mutation_p.E376*|CLPB_ENST00000538021.1_Nonsense_Mutation_p.E43*|CLPB_ENST00000543042.1_Nonsense_Mutation_p.E234*|CLPB_ENST00000538039.1_Nonsense_Mutation_p.E405*|CLPB_ENST00000437826.2_Nonsense_Mutation_p.E390*	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	435					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TGGCCACCCTCCTCATGGCCA	0.512000													59	77					2.44813e-32	4.58888e-32	0.003610	1	0
RASGRP2	10235	broad.mit.edu	37	11	64503016	64503016	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:64503016C>G	ENST00000377494.1	-	10	2216	c.1294G>C	c.(1294-1296)Gag>Cag	p.E432Q	RASGRP2_ENST00000377497.3_Missense_Mutation_p.E432Q|RASGRP2_ENST00000394432.3_Missense_Mutation_p.E432Q|RASGRP2_ENST00000354024.3_Missense_Mutation_p.E432Q			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	432	EF-hand 1.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAGCTCACCTCCACCATCTTC	0.647000													27	31					0	0	0.008361	0	0
PTPRF	5792	broad.mit.edu	37	1	44086827	44086827	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:44086827G>T	ENST00000359947.4	+	33	5919	c.5579G>T	c.(5578-5580)cGc>cTc	p.R1860L	PTPRF_ENST00000372414.3_Missense_Mutation_p.R1860L|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1851L|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1851L|PTPRF_ENST00000422171.2_Missense_Mutation_p.R1219L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1860	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGCGCATGCGCTACGAGGGC	0.617000													157	17					1.01513e-63	2.02703e-63	0.003610	1	0
DCST1	149095	broad.mit.edu	37	1	155019788	155019788	+	Splice_Site	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:155019788C>A	ENST00000295542.1	+	14	1708	c.1612_splice	c.e14+1	p.P538_splice	DCST1_ENST00000368419.2_Splice_Site_p.P538_splice|DCST1_ENST00000392480.1_Splice_Site_p.P538_splice|DCST1_ENST00000423025.2_Splice_Site_p.P513_splice	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	538						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)			AAACAACATGCGTGAGTGATG	0.547000													27	42					7.41945e-09	9.45528e-09	0.005443	1	0
PHLDB2	90102	broad.mit.edu	37	3	111603476	111603476	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:111603476C>T	ENST00000431670.2	+	2	963	c.552C>T	c.(550-552)tcC>tcT	p.S184S	PHLDB2_ENST00000393925.3_Silent_p.S184S|PHLDB2_ENST00000393923.3_Silent_p.S211S|PHLDB2_ENST00000412622.1_Silent_p.S184S|PHLDB2_ENST00000481953.1_Silent_p.S184S|PHLDB2_ENST00000477695.1_Silent_p.S184S|PHLDB2_ENST00000478922.1_Silent_p.S184S	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	184						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						ATGGAAGTTCCCTGAGTGATG	0.552000													28	56					0	0	0.005443	0	0
RBM24	221662	broad.mit.edu	37	6	17292138	17292138	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:17292138G>A	ENST00000379052.5	+	4	735	c.499G>A	c.(499-501)Gcc>Acc	p.A167T	RBM24_ENST00000425446.2_Missense_Mutation_p.A109T|RBM24_ENST00000318204.5_Missense_Mutation_p.A122T|RBM24_ENST00000508508.1_3'UTR	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	167	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			tgctgctgctgccgccgccgc	0.602000													15	27					0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179592014	179592014	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:179592014C>T	ENST00000589042.1	-	69	20302	c.20078G>A	c.(20077-20079)gGa>gAa	p.G6693E	TTN_ENST00000591111.1_Missense_Mutation_p.G6376E|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G5449E|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6376	Ig-like 48.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G5449V(1)		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)			TTCTGGGGATCCAGCTATCTT	0.418000													10	33					0	0	0.008291	0	0
FGFR4	2264	broad.mit.edu	37	5	176517421	176517421	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:176517421A>T	ENST00000292408.4	+	3	367	c.122A>T	c.(121-123)cAa>cTa	p.Q41L	FGFR4_ENST00000292410.3_Missense_Mutation_p.Q41L|FGFR4_ENST00000507708.1_3'UTR|FGFR4_ENST00000502906.1_Missense_Mutation_p.Q41L|FGFR4_ENST00000393648.2_Missense_Mutation_p.Q41L|FGFR4_ENST00000393637.1_Missense_Mutation_p.Q41L	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	41	Ig-like C2-type 1.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	CTGGAGCAGCAAGAGCAGGAG	0.657000										TSP Lung(9;0.080)			23	7					0	0	0.002299	0	0
EPHA3	2042	broad.mit.edu	37	3	89391033	89391033	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:89391033G>T	ENST00000336596.2	+	5	1324	c.1099G>T	c.(1099-1101)Ggg>Tgg	p.G367W	EPHA3_ENST00000494014.1_Missense_Mutation_p.G367W|EPHA3_ENST00000452448.2_Missense_Mutation_p.G367W	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	367	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TAAAAAATGTGGGTGGAATAT	0.483000										TSP Lung(6;0.00050)			19	33					2.39187e-15	3.66228e-15	0.008871	1	0
NUMBL	9253	broad.mit.edu	37	19	41179275	41179275	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:41179275C>T	ENST00000252891.4	-	8	1177	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	NUMBL_ENST00000540131.1_Missense_Mutation_p.R296H|NUMBL_ENST00000598779.1_Missense_Mutation_p.R296H	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	337					cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			GAAGTCAGTGCGGCGCTGCAG	0.607000													9	13					0	0	0.001855	0	0
LYAR	55646	broad.mit.edu	37	4	4276138	4276138	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr4:4276138T>A	ENST00000343470.4	-	7	1028	c.788A>T	c.(787-789)gAg>gTg	p.E263V	LYAR_ENST00000452476.1_Missense_Mutation_p.E263V	NM_017816.2	NP_060286.1	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	263	Lys-rich.					nucleolus	metal ion binding|protein binding			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CACGTGTGCCTCTTCCTCACT	0.582000													92	141					0	0	0.003610	0	0
TTC8	123016	broad.mit.edu	37	14	89337958	89337958	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr14:89337958A>G	ENST00000338104.6	+	12	1215	c.1163A>G	c.(1162-1164)tAt>tGt	p.Y388C	TTC8_ENST00000380656.2_Missense_Mutation_p.Y372C|TTC8_ENST00000536576.1_Missense_Mutation_p.Y133C|TTC8_ENST00000345383.5_Missense_Mutation_p.Y362C|TTC8_ENST00000346301.4_Missense_Mutation_p.Y332C|TTC8_ENST00000358622.5_Missense_Mutation_p.Y174C|TTC8_ENST00000354441.6_Missense_Mutation_p.Y107C			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	398					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGTTGCTTCTATGCCCAGCAG	0.448000													11	38					0	0	0.010729	0	0
TTN	7273	broad.mit.edu	37	2	179429977	179429977	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:179429977G>T	ENST00000589042.1	-	326	81106	c.80882C>A	c.(80881-80883)gCa>gAa	p.A26961E	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A25320E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A18021E|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A17896E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A24393E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A18088E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25320	Fibronectin type-III 96.						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)			ATTTTCTGTTGCTGTGCCTGC	0.413000													29	99					2.12542e-12	2.99469e-12	0.006320	1	0
OR4A5	81318	broad.mit.edu	37	11	51412250	51412250	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:51412250G>T	ENST00000319760.6	-	1	198	c.146C>A	c.(145-147)gCc>gAc	p.A49D		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	49				IA -> FS (in Ref. 1; BAC05754).	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GGAAGGGCTGGCAATAATATC	0.438000													13	33					9.31168e-06	1.07423e-05	0.001855	1	0
SLC4A3	6508	broad.mit.edu	37	2	220497732	220497732	+	Splice_Site	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:220497732G>T	ENST00000358055.3	+	9	1789		c.e9+1		SLC4A3_ENST00000317151.3_Splice_Site|SLC4A3_ENST00000373760.2_Splice_Site|SLC4A3_ENST00000373762.3_Splice_Site|SLC4A3_ENST00000273063.6_Splice_Site			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3						bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAAGCACAGGTGCCGGGGTG	0.622000													28	17					1.75199e-13	2.53401e-13	0.007291	1	0
NFKBIZ	64332	broad.mit.edu	37	3	101573503	101573503	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:101573503G>T	ENST00000326172.5	+	6	1534	c.1419G>T	c.(1417-1419)ctG>ctT	p.L473L	NFKBIZ_ENST00000326151.5_Silent_p.L351L|NFKBIZ_ENST00000394054.2_Silent_p.L373L	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	473	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						TTCACATGCTGGATATTAAAG	0.463000													8	57					0.000157383	0.000171915	0.003080	1	0
APOB	338	broad.mit.edu	37	2	21230991	21230991	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:21230991C>T	ENST00000233242.1	-	26	8876	c.8749G>A	c.(8749-8751)Ggc>Agc	p.G2917S		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2917					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCTATGTGGCCAGCTTTCAAC	0.458000													34	108					0	0	0.003755	0	0
SYT4	6860	broad.mit.edu	37	18	40850516	40850516	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr18:40850516C>A	ENST00000255224.3	-	4	1436	c.1068G>T	c.(1066-1068)gaG>gaT	p.E356D	SYT4_ENST00000590752.1_Missense_Mutation_p.E338D|SYT4_ENST00000586678.1_5'UTR	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	356	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						AGACAAACAGCTCATTGAACA	0.428000													34	34					8.16721e-17	1.29151e-16	0.010818	1	0
TBL2	26608	broad.mit.edu	37	7	72984917	72984917	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:72984917C>A	ENST00000305632.5	-	7	1505	c.1264G>T	c.(1264-1266)Gag>Tag	p.E422*	TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Nonsense_Mutation_p.E386*	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	422										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				CGGGTGCTCTCGTTGGAGGCC	0.677000													7	9					2.0095e-06	2.39081e-06	0.001984	1	0
GMPS	8833	broad.mit.edu	37	3	155611422	155611422	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:155611422T>A	ENST00000496455.1	+	2	478	c.143T>A	c.(142-144)cTg>cAg	p.L48Q	GMPS_ENST00000295920.7_Intron	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	48	Glutamine amidotransferase type-1.				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GTGAGGGAACTGTTCGTGCAG	0.458000			T	MLL	AML								15	10					0	0	0.002450	0	0
TNFRSF4	7293	broad.mit.edu	37	1	1147325	1147325	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:1147325C>A	ENST00000379236.3	-	5	635	c.631G>T	c.(631-633)Ggg>Tgg	p.G211W		NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	211					immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCCTTACCCCCGGGGACCTCC	0.736000													12	5					5.50884e-06	6.39637e-06	0.001368	1	0
GAL3ST3	89792	broad.mit.edu	37	11	65812812	65812812	+	Silent	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:65812812T>A	ENST00000312006.4	-	2	356	c.75A>T	c.(73-75)ctA>ctT	p.L25L	GAL3ST3_ENST00000527878.1_Silent_p.L25L	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	25					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						TGCTGCACCCTAGCACCAGCA	0.677000											OREG0021093	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	14					0	0	0.006214	0	0
KIAA2018	205717	broad.mit.edu	37	3	113378522	113378522	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:113378522C>T	ENST00000316407.4	-	7	2417	c.2007G>A	c.(2005-2007)caG>caA	p.Q669Q	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Silent_p.Q669Q	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	669					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AAGCAAAGAGCTGTCCATTTA	0.398000													31	69					0	0	0.009535	0	0
GREB1	9687	broad.mit.edu	37	2	11696778	11696778	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:11696778G>C	ENST00000381486.2	+	2	338	c.38G>C	c.(37-39)cGc>cCc	p.R13P	GREB1_ENST00000263834.5_Missense_Mutation_p.R13P|GREB1_ENST00000389825.3_Intron|GREB1_ENST00000381483.2_Missense_Mutation_p.R13P|GREB1_ENST00000234142.5_Missense_Mutation_p.R13P	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	13						integral to membrane		p.R13H(3)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AAGACGACACGCTTTGAAGAG	0.517000													14	87					0	0	0.001855	0	0
ENDOU	8909	broad.mit.edu	37	12	48107062	48107062	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:48107062G>T	ENST00000422538.3	-	7	983	c.861C>A	c.(859-861)ttC>ttA	p.F287L	ENDOU_ENST00000229003.3_Missense_Mutation_p.F246L|ENDOU_ENST00000542202.1_Missense_Mutation_p.F53L|ENDOU_ENST00000545824.2_Missense_Mutation_p.F224L|RP1-197B17.3_ENST00000547799.1_lincRNA	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN	endonuclease, polyU-specific	287					female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity	p.F246L(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						TCCCACCTGAGAAGACATGTT	0.498000													39	68					1.15505e-17	1.87136e-17	0.009718	1	0
EVX2	344191	broad.mit.edu	37	2	176945402	176945402	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:176945402C>T	ENST00000308618.4	-	3	1000	c.864G>A	c.(862-864)ccG>ccA	p.P288P		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	288						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CGCCCACGTGCGGGTAGTAGT	0.711000													15	20					0	0	0.002450	0	0
NNT	23530	broad.mit.edu	37	5	43675653	43675653	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:43675653A>G	ENST00000264663.5	+	18	2896	c.2675A>G	c.(2674-2676)tAt>tGt	p.Y892C	NNT_ENST00000344920.4_Missense_Mutation_p.Y892C|NNT_ENST00000512996.2_Missense_Mutation_p.Y761C	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	892					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)	CTTGGAGGCTATGGCACCACT	0.418000													9	52					0	0	0.006214	0	0
GEN1	348654	broad.mit.edu	37	2	17963153	17963153	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:17963153G>T	ENST00000381254.2	+	14	2888	c.2674G>T	c.(2674-2676)Gat>Tat	p.D892Y	GEN1_ENST00000317402.7_Missense_Mutation_p.D892Y|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	892					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TACTTGTTTGGATAGCCCTCT	0.338000								Homologous recombination					16	33					2.23348e-06	2.64725e-06	0.004007	1	0
RAD51AP1	10635	broad.mit.edu	37	12	4662196	4662196	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:4662196G>A	ENST00000228843.9	+	8	705	c.655G>A	c.(655-657)Gac>Aac	p.D219N	RAD51AP1_ENST00000543041.1_Missense_Mutation_p.D84N|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.D202N|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.D219N|RAD51AP1_ENST00000544931.1_3'UTR|RAD51AP1_ENST00000544927.1_Missense_Mutation_p.D202N	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	RAD51 associated protein 1	219					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			TGAGGATAATGACGAAGACTT	0.313000													10	38					0	0	0.010729	0	0
CACNA1E	777	broad.mit.edu	37	1	181767574	181767574	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:181767574C>T	ENST00000526775.1	+	46	6525	c.6360C>T	c.(6358-6360)atC>atT	p.I2120I	CACNA1E_ENST00000367573.2_Silent_p.I2182I|CACNA1E_ENST00000358338.5_Silent_p.I2071I|CACNA1E_ENST00000360108.3_Silent_p.I2163I|CACNA1E_ENST00000367570.1_Silent_p.I2139I|CACNA1E_ENST00000367567.4_Silent_p.I1746I|CACNA1E_ENST00000357570.5_Silent_p.I2133I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2182					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGGGCAGCATCTCTCCACCTG	0.637000													42	40					0	0	0.008740	0	0
TLR10	81793	broad.mit.edu	37	4	38776612	38776612	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr4:38776612G>T	ENST00000308973.4	-	4	1205	c.600C>A	c.(598-600)gaC>gaA	p.D200E	TLR10_ENST00000506111.1_Missense_Mutation_p.D200E|TLR10_ENST00000508334.1_Missense_Mutation_p.D200E|TLR10_ENST00000361424.2_Missense_Mutation_p.D200E	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	200					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						AGAAATTTGTGTCCATTGGTA	0.343000													38	20					4.92203e-23	8.58445e-23	0.006230	1	0
ADAM23	8745	broad.mit.edu	37	2	207414883	207414883	+	Splice_Site	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:207414883C>T	ENST00000264377.3	+	9	1260	c.933_splice	c.e9+1	p.T311_splice	ADAM23_ENST00000374415.3_Splice_Site_p.T311_splice|ADAM23_ENST00000374416.1_Splice_Site_p.T311_splice	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	311	Peptidase M12B.				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)		GATCACAAAACGGTAAGAATA	0.279000													5	23					0	0	0.000602	0	0
CCDC50	152137	broad.mit.edu	37	3	191092871	191092871	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:191092871G>T	ENST00000392456.3	+	6	1059	c.469G>T	c.(469-471)Gcc>Tcc	p.A157S	CCDC50_ENST00000392455.3_Intron	NM_178335.2	NP_848018.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	153						cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		GTCAAGGAGGGCCAGGGAATT	0.448000													9	24					9.70103e-10	1.26325e-09	0.008291	1	0
DST	667	broad.mit.edu	37	6	56373489	56373489	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:56373489C>A	ENST00000370754.5	-	75	18983	c.18984G>T	c.(18982-18984)gaG>gaT	p.E6328D	DST_ENST00000340834.4_5'UTR|DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Missense_Mutation_p.E6039D|DST_ENST00000446842.2_Missense_Mutation_p.E5824D|DST_ENST00000370788.2_Missense_Mutation_p.E3953D|DST_ENST00000370769.4_Missense_Mutation_p.E6150D|DST_ENST00000244364.6_Missense_Mutation_p.E3736D|DST_ENST00000421834.2_Missense_Mutation_p.E4062D			Q03001	DYST_HUMAN	dystonin	6148					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)			TGGCTTCCCTCTCTTCCACCA	0.413000													19	50					9.7654e-05	0.000107988	0.007413	1	0
MROH7	374977	broad.mit.edu	37	1	55119634	55119634	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:55119634C>A	ENST00000414150.2	+	3	1313	c.1035C>A	c.(1033-1035)ttC>ttA	p.F345L	MROH7_ENST00000395690.2_Missense_Mutation_p.F345L|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000339553.5_Missense_Mutation_p.F345L|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000421030.2_Missense_Mutation_p.F345L					maestro heat-like repeat family member 7																		GCCTCCTGTTCAGCGACACCT	0.567000													15	32					3.27435e-08	4.09376e-08	0.002450	1	0
KCNJ2	3759	broad.mit.edu	37	17	68171798	68171798	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:68171798C>A	ENST00000243457.3	+	2	1001	c.618C>A	c.(616-618)ggC>ggA	p.G206G	KCNJ2_ENST00000535240.1_Silent_p.G206G	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	206					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					TGAGAGACGGCAAGCTGTGTT	0.488000													14	47					5.01169e-05	5.59632e-05	0.004990	1	0
FLNC	2318	broad.mit.edu	37	7	128491636	128491636	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:128491636C>T	ENST00000325888.8	+	35	6057	c.5796C>T	c.(5794-5796)ttC>ttT	p.F1932F	FLNC_ENST00000346177.6_Silent_p.F1899F|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1932					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCGTGCGCTTCGATGACAAGC	0.577000													14	59					0	0	0.001855	0	0
ITGAX	3687	broad.mit.edu	37	16	31371149	31371149	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr16:31371149C>A	ENST00000268296.4	+	6	680	c.559C>A	c.(559-561)Cag>Aag	p.Q187K	ITGAX_ENST00000562522.1_Missense_Mutation_p.Q187K	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	187	VWFA.				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						ACCCAGCACCCAGGTGTGCCT	0.592000													39	82					4.32679e-17	6.89428e-17	0.006999	1	0
ATP13A2	23400	broad.mit.edu	37	1	17323579	17323579	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:17323579C>A	ENST00000452699.1	-	12	1305	c.1116G>T	c.(1114-1116)ggG>ggT	p.G372G	ATP13A2_ENST00000502860.1_5'UTR|ATP13A2_ENST00000326735.8_Silent_p.G377G|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Silent_p.G372G	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	377					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		AGATGAGGGTCCCGCAGAAGA	0.662000													43	23					2.95478e-19	4.90767e-19	0.008740	1	0
OR6Y1	391112	broad.mit.edu	37	1	158516949	158516949	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:158516949C>A	ENST00000302617.3	-	1	946	c.947G>T	c.(946-948)gGg>gTg	p.G316V		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TCCCTGGGGCCCACTTCCTCT	0.453000													22	35					3.8784e-16	6.0794e-16	0.012319	1	0
ABI3BP	25890	broad.mit.edu	37	3	100617622	100617622	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:100617622G>A	ENST00000471714.1	-	4	575	c.466C>T	c.(466-468)Cac>Tac	p.H156Y	ABI3BP_ENST00000495063.1_Missense_Mutation_p.H156Y|ABI3BP_ENST00000284322.5_Missense_Mutation_p.H156Y			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	156	Fibronectin type-III 1.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTGGGACAGTGACTTGGCAAT	0.453000													12	63					0	0	0.010729	0	0
PROX1	5629	broad.mit.edu	37	1	214171498	214171498	+	Silent	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:214171498A>G	ENST00000366958.4	+	2	2228	c.1620A>G	c.(1618-1620)ccA>ccG	p.P540P	PROX1_ENST00000435016.1_Silent_p.P540P|PROX1_ENST00000261454.4_Silent_p.P540P|PROX1_ENST00000498508.2_Silent_p.P540P	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	540					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	p.P540P(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CTTGTTCACCAGCACACCCGC	0.522000													24	48					0	0	0.002299	0	0
DNAAF2	55172	broad.mit.edu	37	14	50092641	50092641	+	Silent	SNP	A	A	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr14:50092641A>C	ENST00000298292.8	-	3	2213	c.2133T>G	c.(2131-2133)tcT>tcG	p.S711S	DNAAF2_ENST00000406043.3_Silent_p.S663S	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	711					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm				kidney(1)|lung(4)	5						TAACTGCTATAGATGAATCAG	0.343000													3	15					0	0	0.004672	0	0
AIFM3	150209	broad.mit.edu	37	22	21327772	21327772	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr22:21327772G>T	ENST00000399167.2	+	3	448	c.208G>T	c.(208-210)Gct>Tct	p.A70S	AIFM3_ENST00000399163.2_Missense_Mutation_p.A70S|AIFM3_ENST00000335375.5_Missense_Mutation_p.R94S|AIFM3_ENST00000405089.1_Missense_Mutation_p.A76S|AIFM3_ENST00000440238.2_Missense_Mutation_p.A70S|AIFM3_ENST00000333607.6_Missense_Mutation_p.A70S	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TTGCGTGGAGGCTGCTGTCTG	0.692000													43	19					2.56662e-36	4.89139e-36	0.013114	1	0
PRUNE2	158471	broad.mit.edu	37	9	79324793	79324793	+	Silent	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr9:79324793G>C	ENST00000428286.1	-	8	2520	c.1320C>G	c.(1318-1320)gcC>gcG	p.A440A	PRUNE2_ENST00000376718.3_Silent_p.A799A			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	799					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATGCACTCCAGGCTGGGAATG	0.507000													18	6					0	0	0.004990	0	0
SLC16A6	9120	broad.mit.edu	37	17	66267011	66267011	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:66267011G>T	ENST00000327268.4	-	6	1454	c.1290C>A	c.(1288-1290)agC>agA	p.S430R	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.S430R	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	430						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	GTCCTGCTATGCTCTGAATGA	0.463000													14	45					1.3612e-06	1.62877e-06	0.003163	1	0
GOLGA3	2802	broad.mit.edu	37	12	133354252	133354252	+	Splice_Site	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:133354252T>A	ENST00000204726.3	-	19	4280	c.3722_splice	c.e19+1	p.Q1241_splice	GOLGA3_ENST00000456883.2_Splice_Site_p.Q1241_splice|GOLGA3_ENST00000450791.2_Splice_Site_p.Q1241_splice	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1241	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		AGGCACTCACTGAAGGTCGTC	0.597000													29	42					0	0	0.008361	0	0
KCNIP4	80333	broad.mit.edu	37	4	21950327	21950327	+	Translation_Start_Site	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr4:21950327C>T	ENST00000382152.2	-	0	95				KCNIP4_ENST00000447367.2_De_novo_Start_OutOfFrame	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4							plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				CGGGTCTGCACGGGAGCGCAC	0.716000													4	8					0	0	0.009096	0	0
ORAOV1	220064	broad.mit.edu	37	11	69488079	69488079	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:69488079C>A	ENST00000279147.4	-	2	168	c.61G>T	c.(61-63)Gaa>Taa	p.E21*	ORAOV1_ENST00000535657.1_Nonsense_Mutation_p.E21*|ORAOV1_ENST00000539414.1_Nonsense_Mutation_p.E21*|ORAOV1_ENST00000542341.1_Nonsense_Mutation_p.E21*|ORAOV1_ENST00000536870.1_Intron	NM_153451.2	NP_703152.1	Q8WV07	ORAV1_HUMAN	oral cancer overexpressed 1	21										NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			CGATACCCTTCCCCATGAAAC	0.483000													26	94					6.36457e-07	7.72621e-07	0.003954	1	0
PITX2	5308	broad.mit.edu	37	4	111539292	111539292	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr4:111539292G>A	ENST00000354925.2	-	7	2648	c.943C>T	c.(943-945)Cgg>Tgg	p.R315W	PITX2_ENST00000306732.3_Missense_Mutation_p.R322W|PITX2_ENST00000355080.5_Missense_Mutation_p.R269W|PITX2_ENST00000394598.2_Missense_Mutation_p.R315W|PITX2_ENST00000394595.3_3'UTR	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	315					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.R315R(1)|p.R322R(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CACACGGGCCGGTCCACTGCA	0.622000													29	8					0	0	0.006320	0	0
CPS1	1373	broad.mit.edu	37	2	211476930	211476930	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:211476930C>T	ENST00000233072.5	+	20	2677	c.2481C>T	c.(2479-2481)ctC>ctT	p.L827L	CPS1_ENST00000430249.2_Silent_p.L833L|CPS1_ENST00000451903.2_Silent_p.L376L	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	827					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)		CTCCCCGTCTCCCAATGAACA	0.433000													18	45					0	0	0.004990	0	0
OR8D2	283160	broad.mit.edu	37	11	124189924	124189924	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:124189924G>T	ENST00000357438.2	-	1	260	c.170C>A	c.(169-171)cCt>cAt	p.P57H		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	57					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)		ATACACTGGAGGGTAAAGTTG	0.443000													14	44					9.05144e-12	1.24868e-11	0.001855	1	0
CXCR1	3577	broad.mit.edu	37	2	219029096	219029096	+	Missense_Mutation	SNP	C	C	T	rs140728083		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:219029096C>T	ENST00000295683.2	-	2	959	c.839G>A	c.(838-840)cGc>cAc	p.R280H		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	280					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						GATGTTGTTGCGGCGCTCACA	0.577000													12	68					0	0	0.010729	0	0
MUC16	94025	broad.mit.edu	37	19	9088849	9088849	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:9088849G>T	ENST00000397910.4	-	1	3169	c.2966C>A	c.(2965-2967)gCc>gAc	p.A989D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	989	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGAGAAGTGGCAGAGGTTGA	0.463000													67	101					2.19297e-23	3.8472e-23	0.003610	1	0
CDK15	65061	broad.mit.edu	37	2	202712183	202712183	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:202712183G>A	ENST00000450471.2	+	9	1017	c.931G>A	c.(931-933)Gag>Aag	p.E311K	CDK15_ENST00000260967.2_Missense_Mutation_p.E260K|CDK15_ENST00000410091.3_Missense_Mutation_p.E260K|CDK15_ENST00000434439.1_Missense_Mutation_p.E311K|CDK15_ENST00000374598.4_Missense_Mutation_p.E311K|CDK15_ENST00000488419.1_3'UTR	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	311	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	TGAACAGCTGGAGAAAATCTG	0.383000													22	51					0	0	0.002780	0	0
MUC17	140453	broad.mit.edu	37	7	100686270	100686270	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:100686270C>T	ENST00000306151.4	+	3	11637	c.11573C>T	c.(11572-11574)cCt>cTt	p.P3858L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3858						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)					TTCTCCATACCTGCTGAAGTC	0.478000													55	40					0	0	0.003610	0	0
LRTM1	57408	broad.mit.edu	37	3	54959164	54959164	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:54959164G>C	ENST00000273286.5	-	2	248	c.86C>G	c.(85-87)tCa>tGa	p.S29*	CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000415676.2_Intron|LRTM1_ENST00000493075.1_5'UTR|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000490478.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	29	LRRNT.					integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		ATTTGTAGATGACTGACAGTA	0.463000													12	1					0	0	0.010729	0	0
SULF1	23213	broad.mit.edu	37	8	70540099	70540099	+	Missense_Mutation	SNP	A	A	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:70540099A>C	ENST00000260128.4	+	17	2757	c.2040A>C	c.(2038-2040)caA>caC	p.Q680H	SULF1_ENST00000402687.4_Missense_Mutation_p.Q680H|SULF1_ENST00000458141.2_Missense_Mutation_p.Q680H|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.Q680H	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	680					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GCAGTAAACAAAGGTGAGCTT	0.408000													86	59					0	0	0.003610	0	0
PRRC2B	84726	broad.mit.edu	37	9	134371220	134371220	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr9:134371220A>G	ENST00000357304.4	+	31	6704	c.6649A>G	c.(6649-6651)Atc>Gtc	p.I2217V	PRRC2B_ENST00000458550.1_Missense_Mutation_p.I1523V|PRRC2B_ENST00000405995.1_Missense_Mutation_p.I1523V|PRRC2B_ENST00000372249.1_3'UTR|PRRC2B_ENST00000465931.1_3'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	2217							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AACCGGAGCGATCAAGCCTCG	0.632000													13	5					0	0	0.001368	0	0
SERPINB12	89777	broad.mit.edu	37	18	61233928	61233928	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr18:61233928G>T	ENST00000382768.1	+	7	962	c.962G>T	c.(961-963)cGg>cTg	p.R321L	SERPINB12_ENST00000269491.1_Missense_Mutation_p.R301L			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	301					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TCCTTCCCCCGGTTCACCCTG	0.448000													180	49					3.55815e-84	7.13907e-84	0.003610	1	0
ARHGEF12	23365	broad.mit.edu	37	11	120298883	120298883	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:120298883C>T	ENST00000397843.2	+	8	678	c.512C>T	c.(511-513)cCc>cTc	p.P171L	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.P68L|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.P152L	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	171					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.P171L(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CATATGTCTCCCATCATGACA	0.498000			T	MLL	AML								73	60					0	0	0.003610	0	0
PRDM10	56980	broad.mit.edu	37	11	129775622	129775622	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:129775622T>C	ENST00000358825.5	-	21	3421	c.3190A>G	c.(3190-3192)Atg>Gtg	p.M1064V	PRDM10_ENST00000423662.2_Missense_Mutation_p.M965V|PRDM10_ENST00000304538.6_Missense_Mutation_p.M927V|PRDM10_ENST00000528746.1_Missense_Mutation_p.M1021V|PRDM10_ENST00000526082.1_Missense_Mutation_p.M978V|PRDM10_ENST00000360871.3_Missense_Mutation_p.M1060V	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	1051					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		AGCGTCATCATTTGAATCTCA	0.433000													22	12					0	0	0.012319	0	0
TRIP6	7205	broad.mit.edu	37	7	100469167	100469167	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:100469167C>A	ENST00000200457.4	+	7	1362	c.1002C>A	c.(1000-1002)gcC>gcA	p.A334A		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	334					focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCAACAGGCCACCCTGGAGA	0.627000													25	24					9.39395e-14	1.38101e-13	0.006320	1	0
VCPIP1	80124	broad.mit.edu	37	8	67547476	67547476	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:67547476C>A	ENST00000310421.4	-	3	3187	c.2929G>T	c.(2929-2931)Gat>Tat	p.D977Y		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	977					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TTAACTAAATCTTCAACATCA	0.443000													64	160					8.73484e-25	1.55811e-24	0.003610	1	0
OR52N2	390077	broad.mit.edu	37	11	5841936	5841936	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:5841936G>T	ENST00000317037.2	+	1	393	c.371G>T	c.(370-372)cGc>cTc	p.R124L	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCCTGGACCGCTATGTGGCC	0.542000													21	47					2.08468e-23	3.67161e-23	0.012319	1	0
ANKRD17	26057	broad.mit.edu	37	4	74021863	74021863	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr4:74021863C>A	ENST00000358602.4	-	4	841	c.725G>T	c.(724-726)tGt>tTt	p.C242F	ANKRD17_ENST00000509867.2_Missense_Mutation_p.C129F|ANKRD17_ENST00000330838.6_Missense_Mutation_p.C242F	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	242					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCCTTCTGAACAGGCTTCTGC	0.378000													14	6					2.31682e-05	2.62211e-05	0.003163	1	0
SETBP1	26040	broad.mit.edu	37	18	42531132	42531132	+	Silent	SNP	C	C	G	rs140403091		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr18:42531132C>G	ENST00000282030.5	+	4	2123	c.1827C>G	c.(1825-1827)ccC>ccG	p.P609P		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	609						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)		CCACCAGCCCCGTCAGTCCCA	0.532000									Schinzel-Giedion syndrome				30	40					0	0	0.007291	0	0
ANKRD24	170961	broad.mit.edu	37	19	4219734	4219734	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:4219734G>T	ENST00000600132.1	+	19	3426	c.3150G>T	c.(3148-3150)aaG>aaT	p.K1050N	ANKRD24_ENST00000262970.5_Missense_Mutation_p.K1140N|ANKRD24_ENST00000318934.4_Missense_Mutation_p.K1050N	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1050										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CTCTGGACAAGGCCAAGGAGA	0.647000													35	11					4.65686e-17	7.39203e-17	0.003755	1	0
PTPRM	5797	broad.mit.edu	37	18	8253261	8253261	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr18:8253261T>A	ENST00000332175.8	+	17	3601	c.2564T>A	c.(2563-2565)cTg>cAg	p.L855Q	PTPRM_ENST00000400060.4_Missense_Mutation_p.L869Q|PTPRM_ENST00000580170.1_Missense_Mutation_p.L868Q|PTPRM_ENST00000444013.1_Missense_Mutation_p.L642Q|PTPRM_ENST00000400053.4_Missense_Mutation_p.L793Q	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	855					homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				ACCAGCAGCCTGGTGCAGTCC	0.592000													7	10					0	0	0.001984	0	0
USH2A	7399	broad.mit.edu	37	1	215853675	215853675	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:215853675G>T	ENST00000366943.2	-	62	12496	c.12110C>A	c.(12109-12111)aCa>aAa	p.T4037K	USH2A_ENST00000307340.3_Missense_Mutation_p.T4037K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4037	Fibronectin type-III 25.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			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)		GCGATATGTTGTGAATGGTTC	0.398000										HNSCC(13;0.011)			29	59					6.90743e-12	9.57117e-12	0.003755	1	0
RPL31P11	641311	broad.mit.edu	37	1	161654835	161654835	+	RNA	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:161654835C>G	ENST00000426558.1	-	0	207					NR_002595.1																						GTTCCCATCTCCTTCATGCCA	0.512000													11	8					0	0	0.010729	0	0
DYTN	391475	broad.mit.edu	37	2	207516619	207516619	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:207516619G>A	ENST00000452335.2	-	12	1776	c.1660C>T	c.(1660-1662)Ctg>Ttg	p.L554L		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	554						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CCACTGTACAGGTCCATGTTT	0.463000													17	31					0	0	0.004990	0	0
TRPS1	7227	broad.mit.edu	37	8	116631772	116631772	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:116631772C>A	ENST00000395715.3	-	3	1130	c.553G>T	c.(553-555)Gcc>Tcc	p.A185S	TRPS1_ENST00000519674.1_Missense_Mutation_p.A172S|TRPS1_ENST00000519076.1_Missense_Mutation_p.A126S|TRPS1_ENST00000520276.1_Missense_Mutation_p.A176S|TRPS1_ENST00000220888.5_Missense_Mutation_p.A172S	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	172					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGACAATTGGCTTGACCACTC	0.488000									Langer-Giedion syndrome				48	129					8.72198e-27	1.58054e-26	0.003610	1	0
ACO1	48	broad.mit.edu	37	9	32430486	32430486	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr9:32430486G>A	ENST00000379923.1	+	15	1846	c.1640G>A	c.(1639-1641)cGg>cAg	p.R547Q	ACO1_ENST00000541043.1_Missense_Mutation_p.R448Q|ACO1_ENST00000309951.5_Missense_Mutation_p.R547Q	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	547					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		CCCAACACCCGGGCCAACTAT	0.448000													21	58					0	0	0.012319	0	0
CACNA1C	775	broad.mit.edu	37	12	2705067	2705067	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:2705067C>T	ENST00000399655.1	+	20	2956	c.2691C>T	c.(2689-2691)gtC>gtT	p.V897V	CACNA1C_ENST00000399634.1_Silent_p.V897V|CACNA1C_ENST00000399603.1_Silent_p.V897V|CACNA1C_ENST00000399595.1_Silent_p.V897V|CACNA1C_ENST00000399629.1_Silent_p.V897V|CACNA1C_ENST00000480911.1_Silent_p.V897V|CACNA1C_ENST00000335762.5_Silent_p.V922V|CACNA1C_ENST00000399641.1_Silent_p.V897V|CACNA1C_ENST00000399621.1_Silent_p.V897V|CACNA1C_ENST00000399649.1_Silent_p.V897V|CACNA1C_ENST00000327702.7_Silent_p.V897V|CACNA1C_ENST00000399597.1_Silent_p.V897V|CACNA1C_ENST00000347598.4_Silent_p.V897V|CACNA1C_ENST00000402845.3_Silent_p.V897V|CACNA1C_ENST00000344100.3_Silent_p.V897V|CACNA1C_ENST00000399601.1_Silent_p.V897V|CACNA1C_ENST00000399591.1_Silent_p.V897V|CACNA1C_ENST00000406454.3_Silent_p.V897V|CACNA1C_ENST00000399644.1_Silent_p.V897V|CACNA1C_ENST00000399638.1_Silent_p.V897V|CACNA1C_ENST00000399606.1_Silent_p.V897V|CACNA1C_ENST00000399617.1_Silent_p.V897V|CACNA1C_ENST00000399637.1_Silent_p.V897V	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	897					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			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)	ACCGCATTGTCAATGACACGA	0.572000													11	69					0	0	0.008291	0	0
TGM1	7051	broad.mit.edu	37	14	24729776	24729776	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr14:24729776G>A	ENST00000206765.6	-	4	760	c.637C>T	c.(637-639)Ccc>Tcc	p.P213S	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	213					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	ATGGCGTTGGGGGAAGTGTGG	0.587000													52	39					0	0	0.003610	0	0
KRT72	140807	broad.mit.edu	37	12	52981443	52981443	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:52981443G>T	ENST00000293745.2	-	7	1367	c.1282C>A	c.(1282-1284)Cgc>Agc	p.R428S	KRT72_ENST00000537672.2_Missense_Mutation_p.R428S|KRT72_ENST00000354310.4_Missense_Mutation_p.R386S|KRT72_ENST00000398066.3_Missense_Mutation_p.R240S	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	428	Coil 2.|Rod.		R -> L (in dbSNP:rs11170183).			keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		AGCAGCTTGCGGTAGGTGGCG	0.612000													63	82					2.89935e-36	5.51713e-36	0.003610	1	0
IQCE	23288	broad.mit.edu	37	7	2608599	2608599	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:2608599G>T	ENST00000402050.2	+	3	280	c.96G>T	c.(94-96)agG>agT	p.R32S	IQCE_ENST00000325979.7_Intron|IQCE_ENST00000438376.2_Missense_Mutation_p.R16S|IQCE_ENST00000404984.1_Intron	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	32										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		AAGCAAAAAGGAAAGCTTTCC	0.512000													27	12					1.42536e-11	1.95558e-11	0.004656	1	0
TG	7038	broad.mit.edu	37	8	134145856	134145856	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:134145856G>T	ENST00000220616.4	+	47	8180	c.8140G>T	c.(8140-8142)Gac>Tac	p.D2714Y	TG_ENST00000542445.1_Missense_Mutation_p.D1084Y|TG_ENST00000377869.1_Missense_Mutation_p.D2657Y|TG_ENST00000519543.1_Missense_Mutation_p.D847Y	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2714					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)		GAAGAAAGCCGACTGCTCCTT	0.547000													10	71					0.000442599	0.000475188	0.006214	1	0
PLCH2	9651	broad.mit.edu	37	1	2435900	2435900	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:2435900C>G	ENST00000419816.2	+	22	3773	c.3499C>G	c.(3499-3501)Cgc>Ggc	p.R1167G	PLCH2_ENST00000378486.3_Missense_Mutation_p.R1167G|PLCH2_ENST00000449969.1_3'UTR|PLCH2_ENST00000378488.3_Missense_Mutation_p.R1131G|PLCH2_ENST00000378483.2_3'UTR			O75038	PLCH2_HUMAN	phospholipase C, eta 2	1167					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GGGCCTGGGCCGCAGCCGTGA	0.677000													21	45					0	0	0.008871	0	0
UNC13B	10497	broad.mit.edu	37	9	35403172	35403172	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr9:35403172G>T	ENST00000378495.3	+	37	4468	c.4246G>T	c.(4246-4248)Gtg>Ttg	p.V1416L	UNC13B_ENST00000396787.1_Missense_Mutation_p.V1447L|UNC13B_ENST00000378496.4_Missense_Mutation_p.V1435L	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1416					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AGGGTCTGGTGTGGACGATCC	0.512000													31	26					3.90053e-15	5.94321e-15	0.012213	1	0
MAGEC1	9947	broad.mit.edu	37	X	140994417	140994417	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chrX:140994417G>C	ENST00000285879.4	+	4	1513	c.1227G>C	c.(1225-1227)caG>caC	p.Q409H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	409							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCTCCAGATTCCTATGA	0.483000										HNSCC(15;0.026)			128	111					0	0	0.003610	0	0
HEATR2	54919	broad.mit.edu	37	7	803566	803566	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:803566C>T	ENST00000297440.6	+	8	1758	c.1738C>T	c.(1738-1740)Cac>Tac	p.H580Y	HEATR2_ENST00000313147.5_Missense_Mutation_p.H580Y	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	580							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CTGGACCGCACACTCGCCGGA	0.662000													27	118					0	0	0.007291	0	0
POP1	10940	broad.mit.edu	37	8	99135611	99135611	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:99135611C>T	ENST00000401707.2	+	2	127	c.46C>T	c.(46-48)Cag>Tag	p.Q16*	POP1_ENST00000349693.3_Nonsense_Mutation_p.Q16*	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	16					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AATGAGAAACCAGCCTACCAA	0.403000													7	66					0	0	0.001984	0	0
TRBV2	28620	broad.mit.edu	37	7	142001199	142001199	+	RNA	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:142001199G>T	ENST00000455382.2	+	0	365																											TCACTCTGAAGATCCGGTCCA	0.438000													8	8					5.18039e-06	6.05425e-06	0.003080	1	0
ZIC3	7547	broad.mit.edu	37	X	136649221	136649221	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chrX:136649221G>T	ENST00000287538.5	+	1	921	c.371G>T	c.(370-372)aGc>aTc	p.S124I	ZIC3_ENST00000370606.3_Missense_Mutation_p.S124I	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	124					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CGCCAGCGCAGCTCCGGGCTC	0.692000													6	2					0.00116845	0.00123857	0.001168	1	0
PTCH2	8643	broad.mit.edu	37	1	45292949	45292949	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:45292949A>T	ENST00000447098.2	-	16	2415	c.2404T>A	c.(2404-2406)Tct>Act	p.S802T	PTCH2_ENST00000372192.3_Missense_Mutation_p.S802T	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	802					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					ATGCGCCCAGAAGCCCAGTCC	0.632000									Basal Cell Nevus syndrome				41	37					0	0	0.009718	0	0
ZNF621	285268	broad.mit.edu	37	3	40573785	40573785	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:40573785G>T	ENST00000339296.5	+	5	976	c.524G>T	c.(523-525)gGg>gTg	p.G175V	ZNF621_ENST00000431278.1_Missense_Mutation_p.G64V|ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000403205.2_Missense_Mutation_p.G175V	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		AGTCATACTGGGGAAAAGCCC	0.403000													23	6					2.89027e-11	3.91827e-11	0.002299	1	0
TUBB1	81027	broad.mit.edu	37	20	57597947	57597947	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr20:57597947C>A	ENST00000217133.1	+	2	374	c.105C>A	c.(103-105)agC>agA	p.S35R		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	35					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	TGGCTGGGAGCGACCGCGGGG	0.587000													14	36					1.5739e-10	2.09075e-10	0.004007	1	0
DPY19L2P2	349152	broad.mit.edu	37	7	102898120	102898120	+	RNA	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:102898120C>A	ENST00000312132.4	-	0	2452																											GTTTCTAGTCCAAATAAATTC	0.353000													4	38					0.00909568	0.0094577	0.009096	1	0
PAX1	5075	broad.mit.edu	37	20	21689880	21689880	+	Silent	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr20:21689880C>G	ENST00000398485.2	+	4	1134	c.1080C>G	c.(1078-1080)gcC>gcG	p.A360A	PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Silent_p.A336A	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	360					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CCCTCTCTGCCGTGGGCGGCT	0.697000													65	122					0	0	0.003610	0	0
C9	735	broad.mit.edu	37	5	39316073	39316073	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:39316073T>A	ENST00000263408.4	-	6	769	c.674A>T	c.(673-675)aAa>aTa	p.K225I	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	225	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GATGATACTTTTAAATGCTTC	0.308000													7	78					0	0	0.001984	0	0
OR52I1	390037	broad.mit.edu	37	11	4615655	4615655	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:4615655C>T	ENST00000450052.2	+	2	459	c.459C>T	c.(457-459)gcC>gcT	p.A153A	OR52I1_ENST00000530443.2_Silent_p.A129A			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTATGTAGCCATCTGCAAGC	0.498000													15	32					0	0	0.012319	0	0
MYO3B	140469	broad.mit.edu	37	2	171238560	171238560	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:171238560G>T	ENST00000334231.6	+	10	1033	c.1033G>T	c.(1033-1035)Gtg>Ttg	p.V345L	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.V336L|MYO3B_ENST00000409044.3_Missense_Mutation_p.V336L			Q8WXR4	MYO3B_HUMAN	myosin IIIB	336	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ACCTTATCATGTGGAAGATGC	0.383000													10	41					3.86212e-05	4.32419e-05	0.008291	1	0
MXRA5	25878	broad.mit.edu	37	X	3235641	3235641	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chrX:3235641G>T	ENST00000217939.6	-	6	6235	c.6081C>A	c.(6079-6081)gcC>gcA	p.A2027A		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2027	Ig-like C2-type 4.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGCATTGCTGGCCACGCACT	0.647000													23	14					1.64293e-13	2.38178e-13	0.003330	1	0
BTAF1	9044	broad.mit.edu	37	10	93773444	93773444	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:93773444G>T	ENST00000265990.6	+	31	4640	c.4332G>T	c.(4330-4332)tgG>tgT	p.W1444C	BTAF1_ENST00000544642.1_Missense_Mutation_p.W272C	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1444	Helicase ATP-binding.				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)				TGGAGCTGTGGTCATTATTTG	0.383000													39	28					4.67007e-22	8.05538e-22	0.008740	1	0
PCDHA7	56141	broad.mit.edu	37	5	140216116	140216116	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:140216116G>T	ENST00000525929.1	+	1	2148	c.2148G>T	c.(2146-2148)ctG>ctT	p.L716L	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.L716L|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTACCCTGCTGCTGTACACGG	0.612000													46	12					1.23713e-20	2.08797e-20	0.003610	1	0
TENM4	26011	broad.mit.edu	37	11	78369639	78369639	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:78369639G>T	ENST00000278550.7	-	34	8236	c.7774C>A	c.(7774-7776)Cga>Aga	p.R2592R		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.R2592*(2)									GCAACCCTTCGCCCATCCTCA	0.527000													17	24					1.45105e-14	2.1818e-14	0.006122	1	0
GPR78	27201	broad.mit.edu	37	4	8588916	8588916	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr4:8588916C>A	ENST00000382487.4	+	3	1335	c.918C>A	c.(916-918)gcC>gcA	p.A306A	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	306					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A306A(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						AAGTCCTGGCCGGCATGGTGC	0.652000													26	13					8.24728e-16	1.28473e-15	0.004656	1	0
UBC	7316	broad.mit.edu	37	12	125396341	125396341	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:125396341T>A	ENST00000536769.1	-	1	3553	c.1977A>T	c.(1975-1977)gaA>gaT	p.E659D	UBC_ENST00000339647.5_Missense_Mutation_p.E659D|UBC_ENST00000538617.1_Missense_Mutation_p.E279D|UBC_ENST00000546120.1_Missense_Mutation_p.E583D			P0CG48	UBC_HUMAN	ubiquitin C	659	Ubiquitin-like 9.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGCGTCCATCTTCCAGCTGTT	0.507000													44	212					0	0	0.011902	0	0
PI15	51050	broad.mit.edu	37	8	75756325	75756325	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:75756325G>T	ENST00000260113.2	+	3	562	c.383G>T	c.(382-384)cGc>cTc	p.R128L	RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.R128L	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	128						extracellular region	peptidase inhibitor activity	p.R128H(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			CTATCTGTACGCACTGGAAGG	0.408000													21	249					1.42536e-11	1.95558e-11	0.004656	1	0
HMCN1	83872	broad.mit.edu	37	1	186120336	186120336	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:186120336G>T	ENST00000271588.4	+	94	14842	c.14613G>T	c.(14611-14613)ggG>ggT	p.G4871G	HMCN1_ENST00000367492.2_Silent_p.G4871G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4871	Nidogen G2 beta-barrel.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAATAGGTGGGCCCCAGCGAG	0.398000													26	71					2.41591e-17	3.87608e-17	0.004656	1	0
CACNG4	27092	broad.mit.edu	37	17	65021095	65021095	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:65021095G>T	ENST00000262138.3	+	3	426	c.424G>T	c.(424-426)Ggc>Tgc	p.G142C		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	142					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	p.G142S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			CCTCAGTGCCGGCATCCTCTT	0.662000													18	41					1.33834e-09	1.73734e-09	0.007413	1	0
CTNND2	1501	broad.mit.edu	37	5	11364904	11364904	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:11364904C>A	ENST00000304623.8	-	8	1465	c.1276G>T	c.(1276-1278)Gac>Tac	p.D426Y	CTNND2_ENST00000359640.2_Missense_Mutation_p.D426Y|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.D89Y|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.D335Y	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	426				D -> V (in Ref. 1; AAC63103).	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						TAGACGCGGTCTTCATAGATG	0.627000													194	54					9.97002e-88	2.00359e-87	0.003610	1	0
RUNX1T1	862	broad.mit.edu	37	8	92972709	92972709	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:92972709A>T	ENST00000523629.1	-	12	2030	c.1576T>A	c.(1576-1578)Tgc>Agc	p.C526S	RUNX1T1_ENST00000265814.3_Missense_Mutation_p.C526S|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.C489S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.C499S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.C537S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.C489S|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.C489S|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.C499S	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	526					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CAGCCACTGCAGGTTTCACTC	0.493000													11	100					0	0	0.010729	0	0
CDH20	28316	broad.mit.edu	37	18	59203799	59203799	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr18:59203799G>T	ENST00000262717.4	+	8	1743	c.1345G>T	c.(1345-1347)Gca>Tca	p.A449S	CDH20_ENST00000538374.1_Missense_Mutation_p.A449S|CDH20_ENST00000536675.2_Missense_Mutation_p.A449S			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	449	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CCTAATGACAGCAAGACCCCT	0.423000													48	47					1.76056e-25	3.16749e-25	0.011902	1	0
ZW10	9183	broad.mit.edu	37	11	113631282	113631282	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:113631282C>G	ENST00000200135.3	-	4	517	c.373G>C	c.(373-375)Gca>Cca	p.A125P		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	125	Interaction with RINT1.				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TCTGTTAATGCACAATTATAT	0.343000													20	86					0	0	0.008871	0	0
CEP350	9857	broad.mit.edu	37	1	180006120	180006120	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:180006120C>G	ENST00000367607.3	+	17	4424	c.4006C>G	c.(4006-4008)Ctg>Gtg	p.L1336V		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1336						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ACTCAGTTATCTGAACGCCAT	0.468000													4	8					0	0	0.009096	0	0
COX5A	9377	broad.mit.edu	37	15	75221558	75221558	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr15:75221558C>T	ENST00000322347.6	-	2	269	c.116G>A	c.(115-117)cGc>cAc	p.R39H	COX5A_ENST00000568517.1_5'UTR|COX5A_ENST00000567270.1_Intron|COX5A_ENST00000568783.1_Missense_Mutation_p.R39H|COX5A_ENST00000564811.1_Missense_Mutation_p.R39H|COX5A_ENST00000562233.1_Missense_Mutation_p.R39H	NM_004255.3	NP_004246.2	P20674	COX5A_HUMAN	cytochrome c oxidase subunit Va	39					respiratory electron transport chain	mitochondrial inner membrane	cytochrome-c oxidase activity|electron carrier activity|metal ion binding			endometrium(1)|large_intestine(1)|pancreas(1)	3						GGAATAGCAGCGAACTGACTG	0.383000													35	34					0	0	0.004289	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47370295	47370295	+	Splice_Site	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr22:47370295G>T	ENST00000337137.4	+	9	1291	c.1125_splice	c.e9+1	p.Q375_splice	TBC1D22A_ENST00000355704.3_Splice_Site_p.Q297_splice|TBC1D22A_ENST00000406733.1_Splice_Site_p.Q328_splice|TBC1D22A_ENST00000407381.3_Splice_Site_p.Q316_splice	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	375	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		ATGGCATTCAGGTGAGCGCCC	0.657000													11	1					0.00010058	0.00011093	0.001368	1	0
KCNG1	3755	broad.mit.edu	37	20	49620679	49620679	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr20:49620679C>T	ENST00000371571.4	-	3	1724	c.1439G>A	c.(1438-1440)cGg>cAg	p.R480Q	RP5-955M13.3_ENST00000506387.1_RNA|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	480						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CTGCGCCCTCCGGAACATCAC	0.572000													14	40					0	0	0.002450	0	0
DSC3	1825	broad.mit.edu	37	18	28587018	28587018	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr18:28587018A>T	ENST00000434452.1	-	12	1897	c.1743T>A	c.(1741-1743)taT>taA	p.Y581*	DSC3_ENST00000360428.4_Nonsense_Mutation_p.Y581*	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	581	Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			AAATGACTACATATTCTTGAA	0.373000													27	40					0	0	0.003954	0	0
GPR125	166647	broad.mit.edu	37	4	22389609	22389609	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr4:22389609C>A	ENST00000334304.5	-	19	3954	c.3685G>T	c.(3685-3687)Gag>Tag	p.E1229*	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1229					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TACTGTCTCTCTCTGTAGGCT	0.493000													20	82					1.96292e-10	2.59927e-10	0.010504	1	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	158787225	158787225	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:158787225C>A	ENST00000485419.1	+	1	173	c.4C>A	c.(4-6)Cgt>Agt	p.R2S	IQCJ_ENST00000451172.1_Missense_Mutation_p.R2S|IQCJ_ENST00000397832.2_Missense_Mutation_p.R2S|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.R2S|IQCJ_ENST00000482126.1_Missense_Mutation_p.R2S|IQCJ_ENST00000481796.1_Intron|IQCJ-SCHIP1_ENST00000467442.1_Intron	NM_001197113.1	NP_001184042.1	Q9P0W5	SCHI1_HUMAN		0						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						CTTCAAAATGCGTCTGGTAAT	0.408000													14	45					1.02788e-11	1.41334e-11	0.004990	1	0
CSMD2	114784	broad.mit.edu	37	1	33992820	33992820	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:33992820C>T	ENST00000373381.4	-	65	10386	c.10210G>A	c.(10210-10212)Gag>Aag	p.E3404K		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3260						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGCGGTGGCTCCCGGGCAGTG	0.507000													12	35					0	0	0.001855	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995855	57995855	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:57995855C>T	ENST00000316770.2	-	1	535	c.493G>A	c.(493-495)Gcc>Acc	p.A165T		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	165					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)				AAGATTAAGGCGGTGAGCTGC	0.652000													6	22					0	0	0.001168	0	0
DYTN	391475	broad.mit.edu	37	2	207569613	207569613	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:207569613C>A	ENST00000452335.2	-	5	553	c.437G>T	c.(436-438)cGc>cTc	p.R146L	DYTN_ENST00000477734.1_5'UTR	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	146						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TCGAGTCATGCGTGGCCCAGA	0.373000													4	21					0.00024832	0.000269371	0.009096	1	0
ZNF775	285971	broad.mit.edu	37	7	150093882	150093882	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:150093882G>T	ENST00000329630.5	+	3	420	c.313G>T	c.(313-315)Ggt>Tgt	p.G105C		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCCGGCGAGGGTCACTTTGT	0.687000													7	10					8.12818e-05	8.99624e-05	0.001984	1	0
NCOA2	10499	broad.mit.edu	37	8	71071833	71071833	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:71071833C>A	ENST00000452400.2	-	10	1212	c.1031G>T	c.(1030-1032)gGc>gTc	p.G344V		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	344					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AACAAGAGTGCCATCAGACAA	0.398000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								43	130					8.69298e-16	1.34913e-15	0.006999	1	0
COL27A1	85301	broad.mit.edu	37	9	117020860	117020860	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr9:117020860G>T	ENST00000356083.3	+	28	3572	c.3181G>T	c.(3181-3183)Gca>Tca	p.A1061S		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1061	Collagen-like 7.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CATGAGGGGAGCAAAGGGACG	0.622000													12	6					1.15088e-07	1.42187e-07	0.004007	1	0
PZP	5858	broad.mit.edu	37	12	9312930	9312930	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:9312930G>A	ENST00000261336.2	-	24	3057	c.3029C>T	c.(3028-3030)gCc>gTc	p.A1010V	PZP_ENST00000381997.2_Missense_Mutation_p.A796V	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ATAGCCAACGGCCTTGGCCTT	0.403000													69	14					0	0	0.003610	0	0
SPOCD1	90853	broad.mit.edu	37	1	32267264	32267264	+	Splice_Site	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:32267264C>T	ENST00000360482.2	-	3	1555		c.e3+1		SPOCD1_ENST00000533231.1_Splice_Site|SPOCD1_ENST00000257100.3_Splice_Site|SPOCD1_ENST00000373648.2_Splice_Site	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1						transcription, DNA-dependent			p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TAAAAACCTACGTAGCACACA	0.502000													10	50					0	0	0.006214	0	0
NAV2	89797	broad.mit.edu	37	11	19854036	19854036	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:19854036A>T	ENST00000396085.1	+	2	635	c.274A>T	c.(274-276)Aca>Tca	p.T92S	NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000396087.3_Missense_Mutation_p.T92S|NAV2_ENST00000540292.1_Missense_Mutation_p.T23S|NAV2_ENST00000349880.4_Missense_Mutation_p.T92S|NAV2_ENST00000527559.2_Missense_Mutation_p.T21S|NAV2_ENST00000360655.4_Missense_Mutation_p.T28S	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	92	CH.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACAGATCTACACAGACTGGGC	0.542000													53	64					0	0	0.003610	0	0
AGPAT1	10554	broad.mit.edu	37	6	32138714	32138714	+	Splice_Site	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:32138714C>A	ENST00000395499.1	-	3	913	c.334_splice	c.e3+1	p.G112_splice	PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000375104.2_Splice_Site_p.G112_splice|AGPAT1_ENST00000412465.2_Intron|AGPAT1_ENST00000375107.3_Splice_Site_p.G112_splice|AGPAT1_ENST00000395497.1_Splice_Site_p.G112_splice|AGPAT1_ENST00000336984.6_Splice_Site_p.G112_splice|AGPAT1_ENST00000490711.1_Intron|AGPAT1_ENST00000395496.1_Splice_Site_p.G112_splice			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	112					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						GGGGTCTCACCAAGCAGATCG	0.587000													90	23					1.80868e-48	3.55499e-48	0.003610	1	0
SCML2	10389	broad.mit.edu	37	X	18323337	18323337	+	Splice_Site	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chrX:18323337T>C	ENST00000251900.4	-	7	646		c.e7-2			NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)						anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TGGTGGTTCCTATCAAAACAT	0.373000													34	16					0	0	0.003271	0	0
CFAP54	144535	broad.mit.edu	37	12	97078951	97078951	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:97078951G>T	ENST00000524981.3	+	9	1302	c.1302G>T	c.(1300-1302)gaG>gaT	p.E434D				Q6ZTY8	CL063_HUMAN		408										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						ACAGTGAGGAGTTTCTGTCAA	0.493000													24	29					3.6726e-16	5.77123e-16	0.003954	1	0
NEK11	79858	broad.mit.edu	37	3	130799421	130799421	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:130799421G>T	ENST00000383366.4	+	4	618	c.325G>T	c.(325-327)Gag>Tag	p.E109*	NEK11_ENST00000507910.1_Nonsense_Mutation_p.E109*|NEK11_ENST00000510688.1_Nonsense_Mutation_p.E109*|NEK11_ENST00000429253.2_Nonsense_Mutation_p.E109*|NEK11_ENST00000412440.2_Intron|NEK11_ENST00000510769.1_Nonsense_Mutation_p.E109*|NEK11_ENST00000511262.1_Nonsense_Mutation_p.E109*|NEK11_ENST00000508196.1_Nonsense_Mutation_p.E109*|NEK11_ENST00000356918.4_Nonsense_Mutation_p.E109*	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	109	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						CATTATCACGGAGTACTGTGA	0.418000													6	11					0.00116845	0.00123857	0.001168	1	0
ABL2	27	broad.mit.edu	37	1	179095711	179095711	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:179095711G>T	ENST00000502732.1	-	4	691	c.488C>A	c.(487-489)aCc>aAc	p.T163N	ABL2_ENST00000512653.1_Missense_Mutation_p.T148N|ABL2_ENST00000344730.3_Missense_Mutation_p.T148N|ABL2_ENST00000408940.3_Missense_Mutation_p.T127N|ABL2_ENST00000507173.1_Missense_Mutation_p.T142N|ABL2_ENST00000367623.4_Missense_Mutation_p.T142N|ABL2_ENST00000511413.1_Missense_Mutation_p.T163N|ABL2_ENST00000392043.3_Missense_Mutation_p.T142N|ABL2_ENST00000504405.1_Missense_Mutation_p.T127N	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	163	SH3.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GTTCACTGGGGTGATGTAGTT	0.517000			T	ETV6	AML								24	64					1.85244e-09	2.40223e-09	0.003330	1	0
RNGTT	8732	broad.mit.edu	37	6	89600240	89600240	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:89600240T>A	ENST00000369485.4	-	8	1056	c.870A>T	c.(868-870)aaA>aaT	p.K290N	RNGTT_ENST00000538899.1_Missense_Mutation_p.K230N|RNGTT_ENST00000369475.3_Missense_Mutation_p.K290N|RNGTT_ENST00000265607.6_Missense_Mutation_p.K290N	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	290	GTase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TCCAGCTTACTTTGTATGGCT	0.348000													11	6					0	0	0.010729	0	0
MARCH11	441061	broad.mit.edu	37	5	16067808	16067808	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:16067808G>T	ENST00000332432.8	-	4	1180	c.981C>A	c.(979-981)gcC>gcA	p.A327A		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	327						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						CGATGTCTGTGGCTTTGTCAT	0.473000													35	51					9.78485e-24	1.7282e-23	0.002836	1	0
LRP1B	53353	broad.mit.edu	37	2	141143466	141143466	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:141143466G>T	ENST00000389484.3	-	67	11498	c.10527C>A	c.(10525-10527)aaC>aaA	p.N3509K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3509	LDL-receptor class A 25.				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)		ACTTACTACAGTTTTCTTCAT	0.378000										TSP Lung(27;0.18)			10	39					0.000442599	0.000475188	0.006214	1	0
OR5D18	219438	broad.mit.edu	37	11	55587976	55587976	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:55587976T>A	ENST00000333976.4	+	1	891	c.871T>A	c.(871-873)Tac>Aac	p.Y291N		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCCCCTGATCTACAGTCTGAG	0.458000													34	33					0	0	0.002836	0	0
ROBO2	6092	broad.mit.edu	37	3	77671422	77671422	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:77671422C>A	ENST00000461745.1	+	23	4499	c.3599C>A	c.(3598-3600)cCg>cAg	p.P1200Q	ROBO2_ENST00000332191.8_Missense_Mutation_p.P1200Q|ROBO2_ENST00000487694.3_Missense_Mutation_p.P1216Q	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1200					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCAGTTCCACCGTTAGGTTAT	0.408000													39	35					2.66277e-13	3.81177e-13	0.006999	1	0
BZRAP1	9256	broad.mit.edu	37	17	56386583	56386583	+	Silent	SNP	T	T	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:56386583T>A	ENST00000355701.3	-	22	4920	c.4050A>T	c.(4048-4050)gcA>gcT	p.A1350A	BZRAP1_ENST00000268893.6_Silent_p.A1290A|BZRAP1_ENST00000343736.4_Silent_p.A1350A	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1350						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAGAACAGCCTGCCCCTGAct	0.617000													17	32					0	0	0.004007	0	0
PTPN14	5784	broad.mit.edu	37	1	214546179	214546179	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:214546179C>A	ENST00000366956.5	-	16	3105	c.2911G>T	c.(2911-2913)Gtg>Ttg	p.V971L	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	971	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CCGCCAACCACCACCTAAAAA	0.522000													25	16					9.57634e-11	1.28161e-10	0.003330	1	0
CASKIN1	57524	broad.mit.edu	37	16	2237441	2237441	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr16:2237441G>A	ENST00000343516.6	-	7	731	c.639C>T	c.(637-639)atC>atT	p.I213I		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	213					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGTTAATGTCGATGCCGGCTT	0.677000													17	22					0	0	0.004990	0	0
PLK4	10733	broad.mit.edu	37	4	128804507	128804507	+	Silent	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr4:128804507T>C	ENST00000270861.5	+	3	491	c.217T>C	c.(217-219)Ttg>Ctg	p.L73L	PLK4_ENST00000511942.1_3'UTR|PLK4_ENST00000515069.1_Silent_p.L73L|PLK4_ENST00000513090.1_Intron|PLK4_ENST00000507249.1_Silent_p.L73L|PLK4_ENST00000514379.1_Silent_p.L32L	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	73	Protein kinase.				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						TCCTTCTATCTTGGAGGTAAG	0.303000													9	16					0	0	0.004482	0	0
MATN4	8785	broad.mit.edu	37	20	43932928	43932928	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr20:43932928G>C	ENST00000537548.1	-	4	827	c.583C>G	c.(583-585)Ctc>Gtc	p.L195V	MATN4_ENST00000372753.1_Intron|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000360607.5_Missense_Mutation_p.L195V|MATN4_ENST00000372756.1_Missense_Mutation_p.L195V|MATN4_ENST00000342716.4_Missense_Mutation_p.L195V|MATN4_ENST00000372754.1_Missense_Mutation_p.L195V|MATN4_ENST00000353917.5_Missense_Mutation_p.L195V			O95460	MATN4_HUMAN	matrilin 4	195	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GACTCTACGAGGAAGACGTGC	0.647000													10	37					0	0	0.001368	0	0
HCN1	348980	broad.mit.edu	37	5	45303797	45303797	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:45303797C>A	ENST00000303230.4	-	6	1579	c.1522G>T	c.(1522-1524)Gtg>Ttg	p.V508L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	508						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.V508M(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTTTTACCCACGGCTCCTTCT	0.393000													22	68					1.28384e-07	1.58302e-07	0.012319	1	0
FST	10468	broad.mit.edu	37	5	52780023	52780023	+	Silent	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:52780023T>C	ENST00000396947.3	+	4	787	c.621T>C	c.(619-621)tgT>tgC	p.C207C	FST_ENST00000256759.3_Silent_p.C207C	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	207	Kazal-like 2.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				AATATCTCTGTGGGAATGATG	0.517000													43	70					0	0	0.010771	0	0
F13B	2165	broad.mit.edu	37	1	197029495	197029495	+	Splice_Site	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:197029495C>A	ENST00000367412.1	-	5	849		c.e5+1			NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide						blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TAAAAATTTACCTTCGCATAC	0.318000													25	35					7.01153e-11	9.4037e-11	0.007291	1	0
FOXN4	121643	broad.mit.edu	37	12	109719578	109719578	+	Silent	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:109719578G>T	ENST00000299162.5	-	9	1032	c.928C>A	c.(928-930)Cgg>Agg	p.R310R	FOXN4_ENST00000355216.1_Silent_p.R130R	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	310					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	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			large_intestine(5)|lung(9)|ovary(2)	16						CTTTCAGGCCGGTCGGAGATC	0.667000													23	19					1.64293e-13	2.38178e-13	0.003330	1	0
OR5D18	219438	broad.mit.edu	37	11	55587975	55587975	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:55587975C>T	ENST00000333976.4	+	1	890	c.870C>T	c.(868-870)atC>atT	p.I290I		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				ATCCCCTGATCTACAGTCTGA	0.453000													33	33					0	0	0.012213	0	0
RBMS1	5937	broad.mit.edu	37	2	161143570	161143570	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:161143570C>A	ENST00000348849.3	-	7	1096	c.666G>T	c.(664-666)aaG>aaT	p.K222N	RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000392753.3_Missense_Mutation_p.K222N|RBMS1_ENST00000409075.1_Missense_Mutation_p.K189N|RBMS1_ENST00000409972.1_Missense_Mutation_p.K189N|RBMS1_ENST00000409289.2_Missense_Mutation_p.K189N	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	222	RRM 2.				DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								CATCAGCAAACTTACACAATA	0.373000													119	121					6.92432e-61	1.37391e-60	0.003610	1	0
TP53	7157	broad.mit.edu	37	17	7579361	7579361	+	Missense_Mutation	SNP	A	A	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:7579361A>C	ENST00000420246.2	-	4	458	c.326T>G	c.(325-327)tTc>tGc	p.F109C	TP53_ENST00000359597.4_Missense_Mutation_p.F109C|TP53_ENST00000445888.2_Missense_Mutation_p.F109C|TP53_ENST00000455263.2_Missense_Mutation_p.F109C|TP53_ENST00000413465.2_Missense_Mutation_p.F109C|TP53_ENST00000269305.4_Missense_Mutation_p.F109C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	109	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		F -> C (in sporadic cancers; somatic mutation).|F -> L (in a sporadic cancer; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.F109C(4)|p.F109S(4)|p.G59fs*23(3)|p.G108_F109delGF(2)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(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)		GCCCAGACGGAAACCGTAGCT	0.612000		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)			55	13					0	0	0.003610	0	0
COL4A3	1285	broad.mit.edu	37	2	228168586	228168586	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:228168586A>T	ENST00000396578.3	+	45	4129	c.3967A>T	c.(3967-3969)Aat>Tat	p.N1323Y	COL4A3_ENST00000468753.1_3'UTR|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1323	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AGAAAAGGGTAATCCTGGATT	0.408000													7	37					0	0	0.003080	0	0
OR11L1	391189	broad.mit.edu	37	1	248004346	248004346	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:248004346G>C	ENST00000355784.2	-	1	908	c.853C>G	c.(853-855)Ctg>Gtg	p.L285V		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	285					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)			ACTGGGTTCAGCAGTGGTGTG	0.438000													28	26					0	0	0.006320	0	0
PAOX	196743	broad.mit.edu	37	10	135193899	135193899	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr10:135193899G>C	ENST00000278060.5	+	2	661	c.578G>C	c.(577-579)tGt>tCt	p.C193S	PAOX_ENST00000368539.4_Intron|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000357296.3_Missense_Mutation_p.C193S|PAOX_ENST00000480071.2_Missense_Mutation_p.C193S	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	331					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)		CTGGAATGCTGTGTGAGCGGC	0.602000													16	21					0	0	0.003163	0	0
SLIT3	6586	broad.mit.edu	37	5	168096807	168096807	+	Silent	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:168096807G>A	ENST00000519560.1	-	35	4736	c.4317C>T	c.(4315-4317)agC>agT	p.S1439S	SLIT3_ENST00000404867.3_Silent_p.S1439S|SLIT3_ENST00000332966.8_Silent_p.S1446S	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1439	EGF-like 9.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTGCTCGCCGCTAAAGCCGG	0.582000													9	15					0	0	0.004482	0	0
PRAC1	84366	broad.mit.edu	37	17	46799746	46799746	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:46799746G>T	ENST00000290294.3	-	1	138	c.9C>A	c.(7-9)tgC>tgA	p.C3*		NM_032391.2	NP_115767.1	Q96KF2	PRAC_HUMAN		3						nucleus				kidney(1)|lung(2)	3						AGAAATGGGCGCACAACATCG	0.532000													23	13					6.21321e-17	9.83759e-17	0.002780	1	0
CCKAR	886	broad.mit.edu	37	4	26484829	26484829	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr4:26484829C>G	ENST00000295589.3	-	4	897	c.703G>C	c.(703-705)Gaa>Caa	p.E235Q		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	235					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TGGTAGAGTTCCAAAGAGATT	0.383000													20	59					0	0	0.010504	0	0
DPP6	1804	broad.mit.edu	37	7	154561225	154561225	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:154561225C>A	ENST00000404039.1	+	9	1377	c.790C>A	c.(790-792)Ctc>Atc	p.L264I	DPP6_ENST00000332007.3_Missense_Mutation_p.L266I|DPP6_ENST00000377770.3_Missense_Mutation_p.L328I|DPP6_ENST00000427557.1_Missense_Mutation_p.L221I	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	328					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CATCATGGAGCTCCCAACTTA	0.527000													20	18					8.34094e-07	1.00476e-06	0.008871	1	0
ZFX	7543	broad.mit.edu	37	X	24228809	24228809	+	Silent	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chrX:24228809C>T	ENST00000379177.1	+	11	2161	c.1734C>T	c.(1732-1734)tgC>tgT	p.C578C	ZFX_ENST00000539115.1_Silent_p.C349C|ZFX_ENST00000379188.3_Silent_p.C578C|ZFX_ENST00000540034.1_Silent_p.C617C|ZFX_ENST00000338565.3_Silent_p.C528C|ZFX_ENST00000304543.5_Silent_p.C578C	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	578					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CGTACCAATGCCAGTACTGCG	0.433000													45	16					0	0	0.011902	0	0
SCLY	51540	broad.mit.edu	37	2	239003163	239003163	+	Splice_Site	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:239003163G>T	ENST00000254663.6	+	10	1274	c.1132_splice	c.e10+1	p.G378_splice	SCLY_ENST00000422984.2_Splice_Site_p.G276_splice|SCLY_ENST00000555827.1_Splice_Site_p.G370_splice|SCLY_ENST00000429612.2_Splice_Site_p.G164_splice	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN	selenocysteine lyase	370					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		CCGGCTTCAAGGTGATGGCCC	0.587000													51	37					4.64027e-19	7.65644e-19	0.003610	1	0
RAVER1	125950	broad.mit.edu	37	19	10444188	10444188	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:10444188G>A	ENST00000293677.6	-	1	128	c.47C>T	c.(46-48)cCc>cTc	p.P16L		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	0						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CGCCATCTTGGGAAACCCGGC	0.716000													26	5					0	0	0.003954	0	0
PTPRB	5787	broad.mit.edu	37	12	70949882	70949882	+	Silent	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:70949882C>A	ENST00000334414.6	-	19	4805	c.4761G>T	c.(4759-4761)acG>acT	p.T1587T	PTPRB_ENST00000550857.1_Silent_p.T1279T|PTPRB_ENST00000451516.2_Silent_p.T1279T|PTPRB_ENST00000550358.1_Silent_p.T1499T|PTPRB_ENST00000261266.5_Silent_p.T1369T|PTPRB_ENST00000538708.1_Silent_p.T1279T	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1369					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGGCAATGGCCGTGGAGTTCT	0.443000													23	20					7.87624e-14	1.16061e-13	0.002780	1	0
POTEC	388468	broad.mit.edu	37	18	14533109	14533109	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr18:14533109G>T	ENST00000358970.5	-	5	1005	c.1006C>A	c.(1006-1008)Cta>Ata	p.L336I	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	336										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGTCCAGATAGATCTTGAGAA	0.368000													23	64					3.69857e-22	6.40608e-22	0.008361	1	0
CADM3	57863	broad.mit.edu	37	1	159163275	159163275	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:159163275A>T	ENST00000368125.4	+	4	602	c.445A>T	c.(445-447)Acc>Tcc	p.T149S	CADM3_ENST00000368124.4_Missense_Mutation_p.T183S	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	149	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					AGACACAGCCACCCTAAACTG	0.527000													36	29					0	0	0.003755	0	0
DIDO1	11083	broad.mit.edu	37	20	61542655	61542655	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr20:61542655C>A	ENST00000266070.4	-	3	635	c.310G>T	c.(310-312)Gcc>Tcc	p.A104S	DIDO1_ENST00000370368.1_Missense_Mutation_p.A104S|DIDO1_ENST00000370366.1_Missense_Mutation_p.A104S|DIDO1_ENST00000370371.4_Missense_Mutation_p.A104S|DIDO1_ENST00000395340.1_Missense_Mutation_p.A104S|DIDO1_ENST00000395335.2_Missense_Mutation_p.A104S|DIDO1_ENST00000266071.5_Missense_Mutation_p.A104S|DIDO1_ENST00000354665.4_Missense_Mutation_p.A104S|DIDO1_ENST00000395343.1_Missense_Mutation_p.A104S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	104					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCGTCTGTGGCGGGGCAGGAC	0.662000													17	20					1.5739e-10	2.09075e-10	0.004007	1	0
ROR1	4919	broad.mit.edu	37	1	64644039	64644039	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:64644039C>A	ENST00000371079.1	+	9	2690	c.2315C>A	c.(2314-2316)tCc>tAc	p.S772Y	ROR1_ENST00000545203.1_Missense_Mutation_p.S223Y	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	772	Ser/Thr-rich.				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						CAGACAACCTCCCTCAGTGCC	0.512000													16	29					1.3612e-06	1.62877e-06	0.003163	1	0
SPACA7	122258	broad.mit.edu	37	13	113052421	113052421	+	Silent	SNP	A	A	G			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr13:113052421A>G	ENST00000375699.3	+	2	289	c.117A>G	c.(115-117)ccA>ccG	p.P39P	SPACA7_ENST00000283550.3_Silent_p.P70P			Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	70						extracellular region				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						GCGAAATGCCAAGTACAGCAT	0.448000													18	34					0	0	0.012319	0	0
DSEL	92126	broad.mit.edu	37	18	65181399	65181399	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr18:65181399C>T	ENST00000310045.7	-	2	1950	c.477G>A	c.(475-477)atG>atA	p.M159I		NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	149						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CCATCCTGTCCATATATTCCA	0.418000													11	45					0	0	0.001368	0	0
CLCN1	1180	broad.mit.edu	37	7	143016925	143016925	+	Silent	SNP	T	T	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:143016925T>C	ENST00000343257.2	+	2	345	c.258T>C	c.(256-258)tcT>tcC	p.S86S		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	86					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GCTCCAGTTCTACCGTGGACA	0.458000													36	60					0	0	0.006230	0	0
TPR	7175	broad.mit.edu	37	1	186316584	186316584	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:186316584delG	ENST00000367478.3	-	22	3079	c.2783delC	c.(2782-2784)ctfs	p.P928fs		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	928					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTTGTTGCTAGGCTGACCTAA	0.353			T	NTRK1	papillary thyroid								48	80	---	---	---	---					
LINC00303	284573	broad.mit.edu	37	1	204010293	204010294	+	RNA	INS	-	-	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr1:204010293_204010294insA	ENST00000367207.3	-	0	99_100																											agcaaacaagcaaaaaacaaGA	0.470													3	3	---	---	---	---					
SRD5A2	6716	broad.mit.edu	37	2	31754310	31754310	+	RNA	DEL	G	G	-	rs28383067		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:31754310delG	ENST00000405650.1	-	0	864				AL133247.2_ENST00000435713.1_RNA			P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	CTTCCTCTGCGGGTTAAAAGC	0.398													6	3	---	---	---	---					
CRIM1	51232	broad.mit.edu	37	2	36668413	36668414	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:36668413_36668414insT	ENST00000280527.2	+	3	885_886	c.518_519insT	c.(517-519)gtgfs	p.V173fs		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	173					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)				GAGAAGCCAGATTGCTCCAAGG	0.485													19	58	---	---	---	---					
IGKV1-9	28941	broad.mit.edu	37	2	89309746	89309747	+	RNA	INS	-	-	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:89309746_89309747insT	ENST00000493819.1	-	0	140_141																											AGGATGGAGACTGGGTCAACTG	0.455													117	119	---	---	---	---					
GLI2	2736	broad.mit.edu	37	2	121726466	121726466	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:121726466delG	ENST00000452319.1	+	6	880	c.820delG	c.(820-822)ggfs	p.G274fs	GLI2_ENST00000361492.4_Frame_Shift_Del_p.G274fs|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	274					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CGGTTCCTACGGGCATCTGTC	0.667													13	20	---	---	---	---					
CCDC148	130940	broad.mit.edu	37	2	159170324	159170325	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:159170324_159170325insA	ENST00000283233.5	-	8	1159_1160	c.846_847insT	c.(844-849)agctctfs	p.S283fs	CCDC148_ENST00000409187.1_Frame_Shift_Ins_p.S292fs|CCDC148_ENST00000536771.1_Frame_Shift_Ins_p.S197fs	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	283										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						AGATACAGAGTCCTTCTTCCAA	0.386													24	28	---	---	---	---					
ITGB6	3694	broad.mit.edu	37	2	161029162	161029162	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:161029162delC	ENST00000283249.2	-	6	1076	c.839delG	c.(838-840)acfs	p.S280fs	ITGB6_ENST00000428609.2_Frame_Shift_Del_p.S238fs|ITGB6_ENST00000409967.2_Frame_Shift_Del_p.S280fs|ITGB6_ENST00000409872.1_Frame_Shift_Del_p.S280fs|ITGB6_ENST00000485635.1_5'UTR			P18564	ITB6_HUMAN	integrin, beta 6	280	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TGCTAGTTTGCTGTCCATTCC	0.458													46	150	---	---	---	---					
SGOL2	151246	broad.mit.edu	37	2	201438598	201438598	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:201438598delG	ENST00000357799.4	+	7	3627	c.3529delG	c.(3529-3531)ccfs	p.A1177fs		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	1177					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AGAAAATTTTGCCTTGGAGTG	0.373													7	34	---	---	---	---					
ZDBF2	57683	broad.mit.edu	37	2	207175526	207175531	+	In_Frame_Del	DEL	GCAGGA	GCAGGA	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr2:207175526_207175531delGCAGGA	ENST00000374423.3	+	5	6660_6665	c.6274_6279delGCAGGA	c.(6274-6279)del	p.AG2092del		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2092							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAACTCCAGTGCAGGAGATAATGATG	0.437													29	48	---	---	---	---					
EPHA3	2042	broad.mit.edu	37	3	89390993	89390993	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:89390993delC	ENST00000336596.2	+	5	1284	c.1059delC	c.(1057-1059)ggfs	p.G353fs	EPHA3_ENST00000494014.1_Frame_Shift_Del_p.G353fs|EPHA3_ENST00000452448.2_Frame_Shift_Del_p.G353fs	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	353	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ACACAGGAGGCCGGAAAGATG	0.458										TSP Lung(6;0.00050)			14	58	---	---	---	---					
LOC101243545	101243545	broad.mit.edu	37	3	161146872	161146873	+	RNA	DEL	AT	AT	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr3:161146872_161146873delAT	ENST00000473595.1	+	0	1231					NR_102265.1																						TGGTGAAAAGATATATATATAT	0.342													3	4	---	---	---	---					
ADCY2	108	broad.mit.edu	37	5	7690857	7690857	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:7690857delG	ENST00000338316.4	+	5	863	c.774delG	c.(772-774)gcfs	p.A258fs	ADCY2_ENST00000537121.1_Frame_Shift_Del_p.A78fs|ADCY2_ENST00000513693.1_3'UTR	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	258					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						AGATGAAAGCGGAGATCATCC	0.572													10	99	---	---	---	---					
CYSTM1	84418	broad.mit.edu	37	5	139574143	139574143	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:139574143delG	ENST00000261811.4	+	2	757	c.93delG	c.(91-93)atfs	p.M31fs	CYSTM1_ENST00000509789.2_Intron	NM_032412.3	NP_115788.1	Q9H1C7	CE032_HUMAN	cysteine-rich transmembrane module containing 1	31	Pro-rich.																CAGGACCTATGGGGGGACCCT	0.597													38	21	---	---	---	---					
PCDHA13	56136	broad.mit.edu	37	5	140263635	140263636	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr5:140263635_140263636delGC	ENST00000289272.2	+	1	1782_1783	c.1782_1783delGC	c.(1780-1785)gtgcfs	p.VR594fs	PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Frame_Shift_Del_p.VR594fs|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCGAAGGTGCGCGCGGTGGA	0.708													56	42	---	---	---	---					
TAAR5	9038	broad.mit.edu	37	6	132910408	132910408	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:132910408delG	ENST00000258034.2	-	1	469	c.418delC	c.(418-420)tgfs	p.L141fs		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	141					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GGATAGAGCAGGGGGTCACAG	0.562													33	14	---	---	---	---					
HIVEP2	3097	broad.mit.edu	37	6	143095484	143095485	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr6:143095484_143095485insC	ENST00000367603.2	-	5	1133_1134	c.391_392insG	c.(391-393)atcfs	p.I131fs	HIVEP2_ENST00000367604.1_Frame_Shift_Ins_p.I131fs|HIVEP2_ENST00000012134.2_Frame_Shift_Ins_p.I131fs	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GGCAACGGATGGCAAAGGGCCA	0.505													58	28	---	---	---	---					
STAG3L2	442582	broad.mit.edu	37	7	74300804	74300804	+	RNA	DEL	A	A	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:74300804delA	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CTTCATACTTAAAAAAAAAAA	0.458													2	4	---	---	---	---					
CHRM2	1129	broad.mit.edu	37	7	136700754	136700754	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:136700754delG	ENST00000445907.2	+	3	1670	c.1142delG	c.(1141-1143)cgfs	p.R381fs	AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000397608.3_Frame_Shift_Del_p.R381fs|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000320658.5_Frame_Shift_Del_p.R381fs|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000402486.3_Frame_Shift_Del_p.R381fs|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000453373.1_Frame_Shift_Del_p.R381fs|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Frame_Shift_Del_p.R381fs	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	381					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	p.R381Q(1)|p.R381L(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CCTCCTTCCCGGGAAAAGAAA	0.458													26	81	---	---	---	---					
CLCN1	1180	broad.mit.edu	37	7	143016952	143016956	+	Frame_Shift_Del	DEL	CTATT	CTATT	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:143016952_143016956delCTATT	ENST00000343257.2	+	2	372_376	c.285_289delCTATT	c.(283-291)cactfs	p.HYS95fs		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	95					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ATGAGGATCACTATTCTAAATGTCA	0.468													36	69	---	---	---	---					
KMT2C	58508	broad.mit.edu	37	7	151927043	151927044	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr7:151927043_151927044delCA	ENST00000355193.2	-	18	3158_3159	c.2940_2941delTG	c.(2938-2943)tggtfs	p.CG980fs	KMT2C_ENST00000262189.6_Frame_Shift_Del_p.CG980fs					lysine (K)-specific methyltransferase 2C																		TAACACTGACCACACTGAGAAC	0.332													10	97	---	---	---	---					
DLC1	10395	broad.mit.edu	37	8	13356745	13356746	+	Frame_Shift_Del	DEL	AG	AG	-	rs149040092	byFrequency	TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:13356745_13356746delAG	ENST00000276297.4	-	2	1244_1245	c.835_836delCT	c.(835-837)gfs	p.L279fs	DLC1_ENST00000511869.1_Frame_Shift_Del_p.L279fs|DLC1_ENST00000316609.5_Frame_Shift_Del_p.L279fs	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	279					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AGGAGGCTGCAGAAGGCAGCTT	0.436													82	31	---	---	---	---					
DCAF4L2	138009	broad.mit.edu	37	8	88885535	88885536	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr8:88885535_88885536insA	ENST00000319675.3	-	1	760_761	c.664_665insT	c.(664-666)gacfs	p.D222fs		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	222										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						ACTGCTAGTCCCAAATGACTGC	0.530													115	115	---	---	---	---					
SPATA31E1	286234	broad.mit.edu	37	9	90502661	90502661	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr9:90502661delC	ENST00000325643.5	+	4	3325	c.3259delC	c.(3259-3261)cafs	p.P1087fs		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		TGCTCAGGATCCAGAGCAGCT	0.607													16	24	---	---	---	---					
OR10Q1	219960	broad.mit.edu	37	11	57995623	57995624	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:57995623_57995624insC	ENST00000316770.2	-	1	766_767	c.724_725insG	c.(724-726)cttfs	p.L242fs		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	242					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)				GGTGGAGAAGGCCCGGCGGCGG	0.629													23	37	---	---	---	---					
NAALAD2	10003	broad.mit.edu	37	11	89883769	89883769	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:89883769delA	ENST00000534061.1	+	5	833	c.603delA	c.(601-603)ggfs	p.G201fs	NAALAD2_ENST00000375944.3_Frame_Shift_Del_p.G201fs|NAALAD2_ENST00000321955.4_Frame_Shift_Del_p.G201fs|NAALAD2_ENST00000525171.1_Frame_Shift_Del_p.G201fs	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	201					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TCTTCAGAGGAAATAAAGTAC	0.333													14	12	---	---	---	---					
HEPHL1	341208	broad.mit.edu	37	11	93800808	93800808	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr11:93800808delC	ENST00000315765.9	+	5	963	c.955delC	c.(955-957)ggfs	p.R319fs		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	319	Plastocyanin-like 2.				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)				CAGAGGGCATCGGACTGATGT	0.473													38	122	---	---	---	---					
DBX2	440097	broad.mit.edu	37	12	45410154	45410154	+	Frame_Shift_Del	DEL	G	G	-	rs143163650		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:45410154delG	ENST00000332700.6	-	4	1106	c.935delC	c.(934-936)cafs	p.P312fs		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	312						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)		ATTTGCTTCTGGGGGTGGTGC	0.488													35	52	---	---	---	---					
CAND1	55832	broad.mit.edu	37	12	67699690	67699691	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr12:67699690_67699691insA	ENST00000545606.1	+	10	2679_2680	c.2242_2243insA	c.(2242-2244)gggfs	p.G748fs		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	748					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		ACCCTTATTGCAGGGGGGAGCT	0.421													47	88	---	---	---	---					
LRFN5	145581	broad.mit.edu	37	14	42356666	42356678	+	Frame_Shift_Del	DEL	GAAGAGTTTTTGT	GAAGAGTTTTTGT	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr14:42356666_42356678delGAAGAGTTTTTGT	ENST00000554171.1	+	5	3270_3282	c.838_850delGAAGAGTTTTTGT	c.(838-852)gtfs	p.EEFLC280fs	LRFN5_ENST00000554120.1_Frame_Shift_Del_p.EEFLC280fs|LRFN5_ENST00000298119.4_Frame_Shift_Del_p.EEFLC280fs			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	280	LRRCT.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AATTCCTGAAGAAGAGTTTTTGTGTGAGCCTCC	0.498										HNSCC(30;0.082)			38	49	---	---	---	---					
PSEN1	5663	broad.mit.edu	37	14	73683908	73683908	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr14:73683908delG	ENST00000324501.5	+	11	1476	c.1204delG	c.(1204-1206)gafs	p.G402fs	PSEN1_ENST00000557511.1_Frame_Shift_Del_p.G344fs|PSEN1_ENST00000406768.1_Frame_Shift_Del_p.G310fs|PSEN1_ENST00000344094.3_3'UTR|PSEN1_ENST00000261970.3_Frame_Shift_Del_p.G344fs|PSEN1_ENST00000357710.4_Frame_Shift_Del_p.G398fs|PSEN1_ENST00000394164.1_Frame_Shift_Del_p.G398fs	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	402	Required for interaction with CTNNB1.				amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		AACAGCCAGTGGAGACTGGAA	0.373													25	30	---	---	---	---					
NPAP1	23742	broad.mit.edu	37	15	24922831	24922832	+	Frame_Shift_Ins	INS	-	-	T	rs148519074		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr15:24922831_24922832insT	ENST00000329468.2	+	1	2291_2292	c.1817_1818insT	c.(1816-1818)ctgfs	p.L606fs		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TCCCAAATACATTGCAGTGCAG	0.446													31	40	---	---	---	---					
GPR139	124274	broad.mit.edu	37	16	20043242	20043242	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr16:20043242delG	ENST00000570682.1	-	2	1177	c.877delC	c.(877-879)gcfs	p.R293fs		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	293						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GCCATGGTGCGGAACCGCTTG	0.512													57	78	---	---	---	---					
SMG6	23293	broad.mit.edu	37	17	2091784	2091785	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:2091784_2091785delAG	ENST00000544865.1	-	11	3311_3312	c.2801_2802delCT	c.(2800-2802)tfs	p.S934fs	SMG6_ENST00000354901.4_Frame_Shift_Del_p.S57fs|SMG6_ENST00000263073.5_Frame_Shift_Del_p.S965fs|SMG6_ENST00000536871.2_Frame_Shift_Del_p.S57fs			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	965					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						CCTGGATCACAGAGCGGCACTC	0.584													26	40	---	---	---	---					
LOC100287072	100287072	broad.mit.edu	37	17	20625382	20625382	+	RNA	DEL	C	C	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:20625382delC	ENST00000578210.1	+	0	497					NR_073509.1																						GGCTTTGGGGCATTTACATCA	0.353													17	37	---	---	---	---					
SCN4A	6329	broad.mit.edu	37	17	62049987	62049987	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr17:62049987delG	ENST00000578147.1	-	1	291	c.215delC	c.(214-216)cgfs	p.P73fs	SCN4A_ENST00000435607.1_Frame_Shift_Del_p.P73fs			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	73					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GACCTCCGGCGGGGGGTCTCC	0.582													9	6	---	---	---	---					
SMIM21	284274	broad.mit.edu	37	18	73139420	73139420	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr18:73139420delC	ENST00000584508.1	-	1	217	c.99delG	c.(97-99)ggfs	p.G33fs	SMIM21_ENST00000382638.3_Frame_Shift_Del_p.G33fs|SMIM21_ENST00000579022.1_Frame_Shift_Del_p.G33fs					small integral membrane protein 21																		GCAGCAAATTCCCCTTGAATA	0.463													75	67	---	---	---	---					
DMKN	93099	broad.mit.edu	37	19	35993771	35993771	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr19:35993771delG	ENST00000339686.3	-	10	1328	c.1152delC	c.(1150-1152)ccfs	p.P384fs	DMKN_ENST00000472252.2_Frame_Shift_Del_p.P31fs|DMKN_ENST00000414866.2_Frame_Shift_Del_p.P97fs|DMKN_ENST00000462126.1_5'UTR|DMKN_ENST00000402589.2_Frame_Shift_Del_p.P97fs|DMKN_ENST00000419602.1_Frame_Shift_Del_p.P373fs|DMKN_ENST00000443640.1_Frame_Shift_Del_p.P147fs|DMKN_ENST00000429837.1_Frame_Shift_Del_p.P343fs|DMKN_ENST00000467637.1_Frame_Shift_Del_p.P109fs|DMKN_ENST00000480502.1_Intron|DMKN_ENST00000436012.1_Frame_Shift_Del_p.P80fs|DMKN_ENST00000492341.2_Frame_Shift_Del_p.P31fs|DMKN_ENST00000602781.1_Frame_Shift_Del_p.P97fs	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	dermokine	384						extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CTCGGGTGCTGGGGGGCGGGA	0.622													15	66	---	---	---	---					
HELZ2	85441	broad.mit.edu	37	20	62194534	62194534	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr20:62194534delC	ENST00000467148.1	-	8	5710	c.5641delG	c.(5641-5643)acfs	p.D1881fs	HELZ2_ENST00000427522.2_Frame_Shift_Del_p.D1312fs	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		TGCAGGGTGTCCCCACTGCCC	0.701													6	11	---	---	---	---					
TPTEP1	387590	broad.mit.edu	37	22	17131430	17131432	+	RNA	DEL	CAC	CAC	-	rs142037179		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chr22:17131430_17131432delCAC	ENST00000426585.1	+	0	2456_2458																											caccatccatcaccaacagaaac	0.443													3	6	---	---	---	---					
ARHGAP4	393	broad.mit.edu	37	X	153187084	153187084	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d	g.chrX:153187084delC	ENST00000370028.3	-	2	303	c.246delG	c.(244-246)ggfs	p.G82fs	ARHGAP4_ENST00000537206.1_Frame_Shift_Del_p.G59fs|ARHGAP4_ENST00000370016.1_Frame_Shift_Del_p.G82fs|ARHGAP4_ENST00000393721.1_Frame_Shift_Del_p.G82fs|ARHGAP4_ENST00000350060.5_Frame_Shift_Del_p.G82fs	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	82	FCH.				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCGGCTGCTCCCCAGGCGGC	0.692													23	5	---	---	---	---					
TPR	7175	broad.mit.edu	37	1	186316584	186316584	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:186316584delG	ENST00000367478.3	-	22	3079	c.2783delC	c.(2782-2784)ctfs	p.P928fs		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	928					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTTGTTGCTAGGCTGACCTAA	0.353			T	NTRK1	papillary thyroid								48	80	---	---	---	---					
LINC00303	284573	broad.mit.edu	37	1	204010293	204010294	+	RNA	INS	-	-	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr1:204010293_204010294insA	ENST00000367207.3	-	0	99_100																											agcaaacaagcaaaaaacaaGA	0.470													3	3	---	---	---	---					
SRD5A2	6716	broad.mit.edu	37	2	31754310	31754310	+	RNA	DEL	G	G	-	rs28383067		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:31754310delG	ENST00000405650.1	-	0	864				AL133247.2_ENST00000435713.1_RNA			P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	CTTCCTCTGCGGGTTAAAAGC	0.398													6	3	---	---	---	---					
CRIM1	51232	broad.mit.edu	37	2	36668413	36668414	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:36668413_36668414insT	ENST00000280527.2	+	3	885_886	c.518_519insT	c.(517-519)gtgfs	p.V173fs		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	173					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)				GAGAAGCCAGATTGCTCCAAGG	0.485													19	58	---	---	---	---					
IGKV1-9	28941	broad.mit.edu	37	2	89309746	89309747	+	RNA	INS	-	-	T			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:89309746_89309747insT	ENST00000493819.1	-	0	140_141																											AGGATGGAGACTGGGTCAACTG	0.455													117	119	---	---	---	---					
GLI2	2736	broad.mit.edu	37	2	121726466	121726466	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:121726466delG	ENST00000452319.1	+	6	880	c.820delG	c.(820-822)ggfs	p.G274fs	GLI2_ENST00000361492.4_Frame_Shift_Del_p.G274fs|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	274					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CGGTTCCTACGGGCATCTGTC	0.667													13	20	---	---	---	---					
CCDC148	130940	broad.mit.edu	37	2	159170324	159170325	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:159170324_159170325insA	ENST00000283233.5	-	8	1159_1160	c.846_847insT	c.(844-849)agctctfs	p.S283fs	CCDC148_ENST00000409187.1_Frame_Shift_Ins_p.S292fs|CCDC148_ENST00000536771.1_Frame_Shift_Ins_p.S197fs	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	283										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						AGATACAGAGTCCTTCTTCCAA	0.386													24	28	---	---	---	---					
ITGB6	3694	broad.mit.edu	37	2	161029162	161029162	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:161029162delC	ENST00000283249.2	-	6	1076	c.839delG	c.(838-840)acfs	p.S280fs	ITGB6_ENST00000428609.2_Frame_Shift_Del_p.S238fs|ITGB6_ENST00000409967.2_Frame_Shift_Del_p.S280fs|ITGB6_ENST00000409872.1_Frame_Shift_Del_p.S280fs|ITGB6_ENST00000485635.1_5'UTR			P18564	ITB6_HUMAN	integrin, beta 6	280	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TGCTAGTTTGCTGTCCATTCC	0.458													46	150	---	---	---	---					
SGOL2	151246	broad.mit.edu	37	2	201438598	201438598	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:201438598delG	ENST00000357799.4	+	7	3627	c.3529delG	c.(3529-3531)ccfs	p.A1177fs		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	1177					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AGAAAATTTTGCCTTGGAGTG	0.373													7	34	---	---	---	---					
ZDBF2	57683	broad.mit.edu	37	2	207175526	207175531	+	In_Frame_Del	DEL	GCAGGA	GCAGGA	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr2:207175526_207175531delGCAGGA	ENST00000374423.3	+	5	6660_6665	c.6274_6279delGCAGGA	c.(6274-6279)del	p.AG2092del		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2092							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAACTCCAGTGCAGGAGATAATGATG	0.437													29	48	---	---	---	---					
EPHA3	2042	broad.mit.edu	37	3	89390993	89390993	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:89390993delC	ENST00000336596.2	+	5	1284	c.1059delC	c.(1057-1059)ggfs	p.G353fs	EPHA3_ENST00000494014.1_Frame_Shift_Del_p.G353fs|EPHA3_ENST00000452448.2_Frame_Shift_Del_p.G353fs	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	353	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ACACAGGAGGCCGGAAAGATG	0.458										TSP Lung(6;0.00050)			14	58	---	---	---	---					
LOC101243545	101243545	broad.mit.edu	37	3	161146872	161146873	+	RNA	DEL	AT	AT	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr3:161146872_161146873delAT	ENST00000473595.1	+	0	1231					NR_102265.1																						TGGTGAAAAGATATATATATAT	0.342													3	4	---	---	---	---					
ADCY2	108	broad.mit.edu	37	5	7690857	7690857	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:7690857delG	ENST00000338316.4	+	5	863	c.774delG	c.(772-774)gcfs	p.A258fs	ADCY2_ENST00000513693.1_3'UTR|ADCY2_ENST00000537121.1_Frame_Shift_Del_p.A78fs	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	258					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						AGATGAAAGCGGAGATCATCC	0.572													10	99	---	---	---	---					
CYSTM1	84418	broad.mit.edu	37	5	139574143	139574143	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:139574143delG	ENST00000261811.4	+	2	757	c.93delG	c.(91-93)atfs	p.M31fs	CYSTM1_ENST00000509789.2_Intron	NM_032412.3	NP_115788.1	Q9H1C7	CE032_HUMAN	cysteine-rich transmembrane module containing 1	31	Pro-rich.																CAGGACCTATGGGGGGACCCT	0.597													38	21	---	---	---	---					
PCDHA13	56136	broad.mit.edu	37	5	140263635	140263636	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr5:140263635_140263636delGC	ENST00000289272.2	+	1	1782_1783	c.1782_1783delGC	c.(1780-1785)gtgcfs	p.VR594fs	PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Frame_Shift_Del_p.VR594fs|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCGAAGGTGCGCGCGGTGGA	0.708													56	42	---	---	---	---					
TAAR5	9038	broad.mit.edu	37	6	132910408	132910408	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:132910408delG	ENST00000258034.2	-	1	469	c.418delC	c.(418-420)tgfs	p.L141fs		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	141					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GGATAGAGCAGGGGGTCACAG	0.562													33	14	---	---	---	---					
HIVEP2	3097	broad.mit.edu	37	6	143095484	143095485	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr6:143095484_143095485insC	ENST00000367603.2	-	5	1133_1134	c.391_392insG	c.(391-393)atcfs	p.I131fs	HIVEP2_ENST00000012134.2_Frame_Shift_Ins_p.I131fs|HIVEP2_ENST00000367604.1_Frame_Shift_Ins_p.I131fs	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GGCAACGGATGGCAAAGGGCCA	0.505													58	28	---	---	---	---					
STAG3L2	442582	broad.mit.edu	37	7	74300557	74300564	+	RNA	DEL	AGAGCTCC	AGAGCTCC	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:74300557_74300564delAGAGCTCC	ENST00000423186.1	-	0	573_580							P0CL84	ST3L2_HUMAN								nucleus	binding	p.E82fs*32(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CGGCCAGTGAAGAGCTCCAGGCGTGCGG	0.572													2	4	---	---	---	---					
CHRM2	1129	broad.mit.edu	37	7	136700754	136700754	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:136700754delG	ENST00000445907.2	+	3	1670	c.1142delG	c.(1141-1143)cgfs	p.R381fs	AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000401861.1_Frame_Shift_Del_p.R381fs|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000453373.1_Frame_Shift_Del_p.R381fs|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000397608.3_Frame_Shift_Del_p.R381fs|CHRM2_ENST00000402486.3_Frame_Shift_Del_p.R381fs|CHRM2_ENST00000320658.5_Frame_Shift_Del_p.R381fs	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	381					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	p.R381Q(1)|p.R381L(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CCTCCTTCCCGGGAAAAGAAA	0.458													26	81	---	---	---	---					
CLCN1	1180	broad.mit.edu	37	7	143016952	143016956	+	Frame_Shift_Del	DEL	CTATT	CTATT	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:143016952_143016956delCTATT	ENST00000343257.2	+	2	372_376	c.285_289delCTATT	c.(283-291)cactfs	p.HYS95fs		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	95					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ATGAGGATCACTATTCTAAATGTCA	0.468													36	69	---	---	---	---					
KMT2C	58508	broad.mit.edu	37	7	151927043	151927044	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr7:151927043_151927044delCA	ENST00000355193.2	-	18	3158_3159	c.2940_2941delTG	c.(2938-2943)tggtfs	p.CG980fs	KMT2C_ENST00000262189.6_Frame_Shift_Del_p.CG980fs					lysine (K)-specific methyltransferase 2C																		TAACACTGACCACACTGAGAAC	0.332													10	97	---	---	---	---					
DLC1	10395	broad.mit.edu	37	8	13356745	13356746	+	Frame_Shift_Del	DEL	AG	AG	-	rs149040092	byFrequency	TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:13356745_13356746delAG	ENST00000276297.4	-	2	1244_1245	c.835_836delCT	c.(835-837)gfs	p.L279fs	DLC1_ENST00000511869.1_Frame_Shift_Del_p.L279fs|DLC1_ENST00000316609.5_Frame_Shift_Del_p.L279fs	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	279					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AGGAGGCTGCAGAAGGCAGCTT	0.436													82	31	---	---	---	---					
DCAF4L2	138009	broad.mit.edu	37	8	88885535	88885536	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr8:88885535_88885536insA	ENST00000319675.3	-	1	760_761	c.664_665insT	c.(664-666)gacfs	p.D222fs		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	222										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						ACTGCTAGTCCCAAATGACTGC	0.530													115	115	---	---	---	---					
SPATA31E1	286234	broad.mit.edu	37	9	90502661	90502661	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr9:90502661delC	ENST00000325643.5	+	4	3325	c.3259delC	c.(3259-3261)cafs	p.P1087fs		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		TGCTCAGGATCCAGAGCAGCT	0.607													16	24	---	---	---	---					
NAALAD2	10003	broad.mit.edu	37	11	89883769	89883769	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:89883769delA	ENST00000534061.1	+	5	833	c.603delA	c.(601-603)ggfs	p.G201fs	NAALAD2_ENST00000375944.3_Frame_Shift_Del_p.G201fs|NAALAD2_ENST00000321955.4_Frame_Shift_Del_p.G201fs|NAALAD2_ENST00000525171.1_Frame_Shift_Del_p.G201fs	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	201					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TCTTCAGAGGAAATAAAGTAC	0.333													14	12	---	---	---	---					
HEPHL1	341208	broad.mit.edu	37	11	93800808	93800808	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr11:93800808delC	ENST00000315765.9	+	5	963	c.955delC	c.(955-957)ggfs	p.R319fs		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	319	Plastocyanin-like 2.				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)				CAGAGGGCATCGGACTGATGT	0.473													38	122	---	---	---	---					
DBX2	440097	broad.mit.edu	37	12	45410154	45410154	+	Frame_Shift_Del	DEL	G	G	-	rs143163650		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:45410154delG	ENST00000332700.6	-	4	1106	c.935delC	c.(934-936)cafs	p.P312fs		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	312						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)		ATTTGCTTCTGGGGGTGGTGC	0.488													35	52	---	---	---	---					
CAND1	55832	broad.mit.edu	37	12	67699690	67699691	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr12:67699690_67699691insA	ENST00000545606.1	+	10	2679_2680	c.2242_2243insA	c.(2242-2244)gggfs	p.G748fs		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	748					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		ACCCTTATTGCAGGGGGGAGCT	0.421													47	88	---	---	---	---					
LRFN5	145581	broad.mit.edu	37	14	42356666	42356678	+	Frame_Shift_Del	DEL	GAAGAGTTTTTGT	GAAGAGTTTTTGT	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr14:42356666_42356678delGAAGAGTTTTTGT	ENST00000554171.1	+	5	3270_3282	c.838_850delGAAGAGTTTTTGT	c.(838-852)gtfs	p.EEFLC280fs	LRFN5_ENST00000298119.4_Frame_Shift_Del_p.EEFLC280fs|LRFN5_ENST00000554120.1_Frame_Shift_Del_p.EEFLC280fs			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	280	LRRCT.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AATTCCTGAAGAAGAGTTTTTGTGTGAGCCTCC	0.498										HNSCC(30;0.082)			38	49	---	---	---	---					
PSEN1	5663	broad.mit.edu	37	14	73683908	73683908	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr14:73683908delG	ENST00000324501.5	+	11	1476	c.1204delG	c.(1204-1206)gafs	p.G402fs	PSEN1_ENST00000344094.3_3'UTR|PSEN1_ENST00000557511.1_Frame_Shift_Del_p.G344fs|PSEN1_ENST00000394164.1_Frame_Shift_Del_p.G398fs|PSEN1_ENST00000406768.1_Frame_Shift_Del_p.G310fs|PSEN1_ENST00000261970.3_Frame_Shift_Del_p.G344fs|PSEN1_ENST00000357710.4_Frame_Shift_Del_p.G398fs	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	402	Required for interaction with CTNNB1.				amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		AACAGCCAGTGGAGACTGGAA	0.373													25	30	---	---	---	---					
NPAP1	23742	broad.mit.edu	37	15	24922831	24922832	+	Frame_Shift_Ins	INS	-	-	T	rs148519074		TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr15:24922831_24922832insT	ENST00000329468.2	+	1	2291_2292	c.1817_1818insT	c.(1816-1818)ctgfs	p.L606fs		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TCCCAAATACATTGCAGTGCAG	0.446													31	40	---	---	---	---					
GPR139	124274	broad.mit.edu	37	16	20043242	20043242	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr16:20043242delG	ENST00000570682.1	-	2	1177	c.877delC	c.(877-879)gcfs	p.R293fs		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	293						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GCCATGGTGCGGAACCGCTTG	0.512													57	78	---	---	---	---					
SMG6	23293	broad.mit.edu	37	17	2091784	2091785	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:2091784_2091785delAG	ENST00000544865.1	-	11	3311_3312	c.2801_2802delCT	c.(2800-2802)tfs	p.S934fs	SMG6_ENST00000536871.2_Frame_Shift_Del_p.S57fs|SMG6_ENST00000263073.5_Frame_Shift_Del_p.S965fs|SMG6_ENST00000354901.4_Frame_Shift_Del_p.S57fs			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	965					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						CCTGGATCACAGAGCGGCACTC	0.584													26	40	---	---	---	---					
LOC100287072	100287072	broad.mit.edu	37	17	20625382	20625382	+	RNA	DEL	C	C	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:20625382delC	ENST00000578210.1	+	0	497					NR_073509.1																						GGCTTTGGGGCATTTACATCA	0.353													17	37	---	---	---	---					
SCN4A	6329	broad.mit.edu	37	17	62049987	62049987	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr17:62049987delG	ENST00000435607.1	-	1	291	c.215delC	c.(214-216)cgfs	p.P73fs	SCN4A_ENST00000578147.1_Frame_Shift_Del_p.P73fs	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	73					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GACCTCCGGCGGGGGGTCTCC	0.582													9	6	---	---	---	---					
SMIM21	284274	broad.mit.edu	37	18	73139420	73139420	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr18:73139420delC	ENST00000584508.1	-	1	217	c.99delG	c.(97-99)ggfs	p.G33fs	SMIM21_ENST00000579022.1_Frame_Shift_Del_p.G33fs|SMIM21_ENST00000382638.3_Frame_Shift_Del_p.G33fs					small integral membrane protein 21																		GCAGCAAATTCCCCTTGAATA	0.463													75	67	---	---	---	---					
DMKN	93099	broad.mit.edu	37	19	35993771	35993771	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr19:35993771delG	ENST00000339686.3	-	10	1328	c.1152delC	c.(1150-1152)ccfs	p.P384fs	DMKN_ENST00000414866.2_Frame_Shift_Del_p.P97fs|DMKN_ENST00000462126.1_5'UTR|DMKN_ENST00000402589.2_Frame_Shift_Del_p.P97fs|DMKN_ENST00000492341.2_Frame_Shift_Del_p.P31fs|DMKN_ENST00000419602.1_Frame_Shift_Del_p.P373fs|DMKN_ENST00000472252.2_Frame_Shift_Del_p.P31fs|DMKN_ENST00000602781.1_Frame_Shift_Del_p.P97fs|DMKN_ENST00000443640.1_Frame_Shift_Del_p.P147fs|DMKN_ENST00000429837.1_Frame_Shift_Del_p.P343fs|DMKN_ENST00000480502.1_Intron|DMKN_ENST00000467637.1_Frame_Shift_Del_p.P109fs|DMKN_ENST00000436012.1_Frame_Shift_Del_p.P80fs	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	dermokine	384						extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CTCGGGTGCTGGGGGGCGGGA	0.622													15	66	---	---	---	---					
HELZ2	85441	broad.mit.edu	37	20	62194534	62194534	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chr20:62194534delC	ENST00000467148.1	-	8	5710	c.5641delG	c.(5641-5643)acfs	p.D1881fs	HELZ2_ENST00000427522.2_Frame_Shift_Del_p.D1312fs	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		TGCAGGGTGTCCCCACTGCCC	0.701													6	11	---	---	---	---					
ARHGAP4	393	broad.mit.edu	37	X	153187084	153187084	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-5644-01A-21D-2036-08	TCGA-44-5644-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d5ee31-78c9-4f62-98c1-d2993a65e547	4336a4fa-661e-4089-86ad-3f204bb83ca0	g.chrX:153187084delC	ENST00000370028.3	-	2	303	c.246delG	c.(244-246)ggfs	p.G82fs	ARHGAP4_ENST00000393721.1_Frame_Shift_Del_p.G82fs|ARHGAP4_ENST00000370016.1_Frame_Shift_Del_p.G82fs|ARHGAP4_ENST00000350060.5_Frame_Shift_Del_p.G82fs|ARHGAP4_ENST00000537206.1_Frame_Shift_Del_p.G59fs	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	82	FCH.				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCGGCTGCTCCCCAGGCGGC	0.692													23	5	---	---	---	---					
