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
CACNB2	783	broad.mit.edu	37	10	18828327	18828327	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:18828327G>A	ENST00000396576.2	+	13	1993	c.1492G>A	c.(1492-1494)Gag>Aag	p.E498K	RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377331.2_Missense_Mutation_p.E501K|CACNB2_ENST00000377319.3_Missense_Mutation_p.E460K|CACNB2_ENST00000377329.4_Missense_Mutation_p.E499K|CACNB2_ENST00000377328.1_Missense_Mutation_p.E303K|CACNB2_ENST00000282343.8_Missense_Mutation_p.E525K|CACNB2_ENST00000352115.6_Missense_Mutation_p.E529K|CACNB2_ENST00000324631.7_Missense_Mutation_p.E553K|CACNB2_ENST00000377315.4_Missense_Mutation_p.E505K	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	553					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTCCAGGCAAGAGACATTTGA	0.557000													9	21					0	0	1	0	0
CPSF7	79869	broad.mit.edu	37	11	61183597	61183597	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:61183597G>A	ENST00000340437.4	-	6	1154	c.1074C>T	c.(1072-1074)gcC>gcT	p.A358A	CPSF7_ENST00000439958.3_Silent_p.A306A|CPSF7_ENST00000448745.1_Silent_p.A306A|CPSF7_ENST00000394888.4_Silent_p.A315A	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	315					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGTTATAGGGGGCAGAGGCCT	0.507000													34	56					0	0	1	0	0
DUSP22	56940	broad.mit.edu	37	6	348176	348176	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:348176G>A	ENST00000604971.1	+	3	1141	c.28G>A	c.(28-30)Gat>Aat	p.D10N	DUSP22_ENST00000419235.2_Missense_Mutation_p.D113N|DUSP22_ENST00000344450.5_Missense_Mutation_p.D113N|DUSP22_ENST00000605315.1_Missense_Mutation_p.D10N|DUSP22_ENST00000603453.1_Missense_Mutation_p.D10N|DUSP22_ENST00000605035.1_Missense_Mutation_p.D10N|DUSP22_ENST00000605863.1_Missense_Mutation_p.D10N			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	113					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TGGCTGGGAGGATGCCCTGCA	0.597000													93	275					0	0	1	0	0
SLC25A44	9673	broad.mit.edu	37	1	156180108	156180108	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:156180108C>T	ENST00000359511.4	+	4	1003	c.831C>T	c.(829-831)ggC>ggT	p.G277G	SLC25A44_ENST00000423538.2_Silent_p.G254G|SLC25A44_ENST00000469537.1_3'UTR	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	277					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					TCATGAAGGGCCTCTCGGCCA	0.547000													37	17					0	0	1	0	0
ANKMY2	57037	broad.mit.edu	37	7	16644417	16644417	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:16644417A>C	ENST00000306999.2	-	8	1183	c.940T>G	c.(940-942)Ttt>Gtt	p.F314V		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	314						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		ACATCCACAAAACCCACCTGG	0.423000													34	84					0	0	1	0	0
ACTA2	59	broad.mit.edu	37	10	90697867	90697867	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:90697867C>T	ENST00000458208.1	-	8	1415	c.941G>A	c.(940-942)cGa>cAa	p.R314Q	ACTA2_ENST00000224784.6_Missense_Mutation_p.R314Q|ACTA2-AS1_ENST00000437930.3_RNA|STAMBPL1_ENST00000371927.3_Intron	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	314					response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		CTTCTGCATTCGGTCGGCAAT	0.522000													32	52					0	0	1	0	0
ATE1	11101	broad.mit.edu	37	10	123670525	123670525	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:123670525T>C	ENST00000369043.3	-	5	565	c.479A>G	c.(478-480)aAa>aGa	p.K160R	ATE1_ENST00000369040.3_Missense_Mutation_p.K64R|ATE1_ENST00000535655.1_5'UTR|ATE1_ENST00000540606.1_Missense_Mutation_p.K153R|ATE1_ENST00000543447.1_Missense_Mutation_p.K45R|ATE1_ENST00000224652.6_Missense_Mutation_p.K160R	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	160					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				AGGTTCTTCTTTCTTTGAATT	0.373000													23	34					0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	40946981	40946981	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:40946981C>T	ENST00000295974.8	-	7	1571	c.942G>A	c.(940-942)acG>acA	p.T314T	APBB2_ENST00000506352.1_Silent_p.T314T|APBB2_ENST00000508593.1_Silent_p.T315T|APBB2_ENST00000513140.1_Silent_p.T314T	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	314	WW.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CCCACTGAGTCGTTCCTGTTG	0.537000													65	50					0	0	1	0	0
NPY5R	4889	broad.mit.edu	37	4	164271684	164271684	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:164271684G>A	ENST00000515560.1	+	4	1781	c.259G>A	c.(259-261)Gat>Aat	p.D87N	NPY5R_ENST00000506953.1_Missense_Mutation_p.D87N|NPY5R_ENST00000338566.3_Missense_Mutation_p.D87N			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	87					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GGCCTTTTCTGATATCTTGGT	0.413000													152	100					0	0	1	0	0
LRCH1	23143	broad.mit.edu	37	13	47315947	47315947	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:47315947C>T	ENST00000389798.3	+	19	2348	c.2151C>T	c.(2149-2151)gtC>gtT	p.V717V	LRCH1_ENST00000311191.6_Intron|LRCH1_ENST00000389797.3_Silent_p.V752V	NM_015116.2	NP_055931.1	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	717										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TAGTGCTGGTCTATATCACTT	0.532000													90	232					0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9909970	9909970	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:9909970C>T	ENST00000506583.1	-	10	1133		c.e10-1		SLC2A9_ENST00000264784.3_Splice_Site|SLC2A9_ENST00000309065.3_Splice_Site			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9						glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						AGAACCAAATCTGTAATTCAG	0.438000													11	24					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6678294	6678294	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:6678294C>T	ENST00000245907.6	-	40	4811	c.4719G>A	c.(4717-4719)tcG>tcA	p.S1573S	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1573	NTR.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GCACCTCATCCGAGCCTGGAG	0.602000													26	37					0	0	1	0	0
OR1F2P	26184	broad.mit.edu	37	16	3266154	3266154	+	RNA	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:3266154C>T	ENST00000576468.1	+	0	418																											CGATGTGACTCCCCTCCTGAA	0.537000													10	52					0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3707375	3707375	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:3707375G>A	ENST00000324932.7	-	29	4924	c.4504C>T	c.(4504-4506)Cct>Tct	p.P1502S	NUP98_ENST00000359171.4_Intron|NUP98_ENST00000355260.3_Intron	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1519					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TAGTCCAAAGGATCTGCTGTT	0.522000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								25	52					0	0	1	0	0
DMC1	11144	broad.mit.edu	37	22	38948707	38948707	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:38948707G>A	ENST00000216024.2	-	7	661	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	DMC1_ENST00000428462.2_Missense_Mutation_p.R129C	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	129					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					TTTCCAGTACGAAATTCTGTG	0.274000								Homologous recombination					17	31					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58617062	58617062	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:58617062G>A	ENST00000317147.5	-	9	1163	c.831C>T	c.(829-831)atC>atT	p.I277I	CNOT1_ENST00000441024.2_Silent_p.I277I|CNOT1_ENST00000569240.1_Silent_p.I277I	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	277					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAAACTGCACGATTATATTGC	0.418000													12	61					0	0	1	0	0
LENG8	114823	broad.mit.edu	37	19	54966555	54966555	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:54966555C>T	ENST00000326764.5	+	8	1313	c.834C>T	c.(832-834)gcC>gcT	p.A278A	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	241							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GGTCCTCTGCCCGGGGGAACC	0.627000													12	56					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24344791	24344791	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:24344791C>T	ENST00000175238.6	+	11	1135	c.1052C>T	c.(1051-1053)aCc>aTc	p.T351I	ADAM7_ENST00000520720.1_Missense_Mutation_p.T123I|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.T351I|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	351	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTCCCATGCACCTGTCCTTCA	0.448000													19	48					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6712535	6712535	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:6712535A>C	ENST00000245907.6	-	10	1195	c.1103T>G	c.(1102-1104)aTg>aGg	p.M368R		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	368					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GTCAAAGGGCATTCCTGGTTT	0.627000													78	137					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108487725	108487725	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:108487725A>C	ENST00000408999.3	+	20	3342	c.3265A>C	c.(3265-3267)Aaa>Caa	p.K1089Q	RGPD4_ENST00000354986.4_Missense_Mutation_p.K1089Q	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1089	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AAAAATTCTCAAAAACGAGGT	0.403000													17	159					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233122150	233122150	+	Silent	SNP	C	C	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:233122150C>A	ENST00000258229.8	-	33	6162	c.5928G>T	c.(5926-5928)ctG>ctT	p.L1976L	PCNXL2_ENST00000344698.2_Silent_p.L628L	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1976	Ser-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GCCTCTGGGCCAGCTCGTGCA	0.662000													8	5					0.0581538	0.058234	1	1	0
RPS6KA6	27330	broad.mit.edu	37	X	83351312	83351312	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:83351312G>A	ENST00000262752.2	-	20	1868	c.1861C>T	c.(1861-1863)Cca>Tca	p.P621S	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.P621S	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	621	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TTAGCAAATGGAGTGTAGCTA	0.343000													12	2					0	0	1	0	0
PGM1	5236	broad.mit.edu	37	1	64095131	64095131	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:64095131C>T	ENST00000371083.4	+	2	704	c.336C>T	c.(334-336)ctC>ctT	p.L112L	PGM1_ENST00000540265.1_5'UTR|PGM1_ENST00000371084.3_Silent_p.L94L	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1	94					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						ATGGAATCCTCTCCACCCCTG	0.473000													116	68					0	0	1	0	0
ZFP3	124961	broad.mit.edu	37	17	4995166	4995166	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:4995166C>T	ENST00000318833.3	+	2	703	c.367C>T	c.(367-369)Cta>Tta	p.L123L		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						CCAAAACTTCCTAGAGATTTT	0.433000													11	35					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9015342	9015342	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:9015342G>A	ENST00000397910.4	-	30	38449	c.38246C>T	c.(38245-38247)tCt>tTt	p.S12749F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12751	SEA 5.			Missing (in Ref. 3; AAK74120).	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						TCTGCAGCCAGAGTACAGAGG	0.522000													73	115					0	0	1	0	0
TMEM71	137835	broad.mit.edu	37	8	133726259	133726259	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:133726259T>C	ENST00000356838.3	-	9	939	c.797A>G	c.(796-798)aAa>aGa	p.K266R	TMEM71_ENST00000523829.1_Intron|TMEM71_ENST00000377901.4_Missense_Mutation_p.K222R	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	285						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)			GGCAGTGGTTTTGAAATAGCT	0.363000													18	52					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9082600	9082600	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:9082600T>C	ENST00000397910.4	-	1	9418	c.9215A>G	c.(9214-9216)cAg>cGg	p.Q3072R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3073	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						AGCTGAAGTCTGAAGATGCAC	0.493000													42	48					0	0	1	0	0
F9	2158	broad.mit.edu	37	X	138644072	138644072	+	Missense_Mutation	SNP	G	G	A	rs137852278		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:138644072G>A	ENST00000218099.2	+	8	1235	c.1228G>A	c.(1228-1230)Gat>Aat	p.D410N	F9_ENST00000394090.2_Missense_Mutation_p.D372N	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	410	Peptidase S1.		D -> H (in HEMB; Mechtal).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	ATGTCAAGGAGATAGTGGGGG	0.443000													47	2					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32811707	32811707	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:32811707C>T	ENST00000380250.3	+	44	6498	c.6002C>T	c.(6001-6003)gCc>gTc	p.A2001V		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2001					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCTCGAAGTGCCACACTGGAC	0.547000													14	32					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52162882	52162882	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:52162882C>T	ENST00000354534.5	+	17	3313	c.3135C>T	c.(3133-3135)atC>atT	p.I1045I	SCN8A_ENST00000545061.1_Silent_p.I1045I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1045					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)	CCAACTGTATCGCCAATCACA	0.522000													7	6					0	0	1	0	0
RIMS4	140730	broad.mit.edu	37	20	43385563	43385563	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:43385563C>T	ENST00000372851.3	-	5	633	c.567G>A	c.(565-567)gaG>gaA	p.E189E	RIMS4_ENST00000541604.2_Silent_p.E190E	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	189	C2.				exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				CCTGGGGACTCTCAGGAAACA	0.557000													230	271					0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36595792	36595792	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:36595792G>A	ENST00000299440.5	+	2	1050	c.938G>A	c.(937-939)tGc>tAc	p.C313Y		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	313					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CATGTCTTTTGCCGGGTCTGC	0.517000									Familial Hemophagocytic Lymphohistiocytosis				21	28					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84738844	84738844	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:84738844G>A	ENST00000372142.2	+	9	1162	c.888G>A	c.(886-888)agG>agA	p.R296R	NRG3_ENST00000404547.1_Silent_p.R517R|NRG3_ENST00000556918.1_Silent_p.R347R|NRG3_ENST00000537893.1_Silent_p.R167R|NRG3_ENST00000404576.2_Silent_p.R321R|NRG3_ENST00000545131.1_Silent_p.R167R|NRG3_ENST00000372141.2_Silent_p.R517R	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	517	EGF-like.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AAGAATCAAGGATCCCAGACC	0.478000													11	18					0	0	1	0	0
ZNF180	7733	broad.mit.edu	37	19	44981615	44981615	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:44981615G>A	ENST00000221327.4	-	5	1364	c.1083C>T	c.(1081-1083)tcC>tcT	p.S361S	ZNF180_ENST00000592529.1_Silent_p.S334S|ZNF180_ENST00000391956.4_Silent_p.S336S	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TCCAGCTGAAGGATTTCCCAC	0.413000													36	58					0	0	1	0	0
ASB10	136371	broad.mit.edu	37	7	150878460	150878460	+	Silent	SNP	G	G	T	rs138770241		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:150878460G>T	ENST00000422024.1	-	3	930	c.805C>A	c.(805-807)Cgg>Agg	p.R269R	ASB10_ENST00000275838.1_Silent_p.R224R|ASB10_ENST00000377867.3_Silent_p.R209R|ASB10_ENST00000420175.2_Silent_p.R224R|ASB10_ENST00000434669.1_Silent_p.R269R	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	224					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGCCAAGCCGGGCGGCCACA	0.627000													19	39					8.34094e-07	8.43982e-07	1	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37490190	37490190	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:37490190G>A	ENST00000374660.1	+	37	3094	c.2995G>A	c.(2995-2997)Gat>Aat	p.D999N	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.D880N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D880N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1023						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TTCACAGAAGGATGTGTGTGT	0.299000													18	28					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94645431	94645431	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:94645431T>C	ENST00000260526.6	-	20	2512	c.2330A>G	c.(2329-2331)cAa>cGa	p.Q777R	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	777	Rho-GAP.				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTTTGTCTCTTGTTCTTCATT	0.299000													20	54					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197396920	197396920	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:197396920G>A	ENST00000367397.1	+	3	1466	c.608G>A	c.(607-609)tGg>tAg	p.W203*	CRB1_ENST00000535699.1_Nonsense_Mutation_p.W753*|CRB1_ENST00000367400.3_Nonsense_Mutation_p.W822*|CRB1_ENST00000544212.1_Nonsense_Mutation_p.W303*|CRB1_ENST00000367399.2_Nonsense_Mutation_p.W710*|CRB1_ENST00000538660.1_Intron			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	822	EGF-like 5; calcium-binding (Potential).				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						GCTTCTACGTGGAAAATCGAA	0.373000													18	4					0	0	1	0	0
ANKRD29	147463	broad.mit.edu	37	18	21229140	21229140	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr18:21229140G>A	ENST00000592179.1	-	2	193	c.39C>T	c.(37-39)gcC>gcT	p.A13A	ANKRD29_ENST00000284207.7_Silent_p.A13A|ANKRD29_ENST00000322980.9_Silent_p.A13A	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	13										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATGCAGCATTGGCAAGTGGAG	0.488000													8	10					0	0	1	0	0
HIPK4	147746	broad.mit.edu	37	19	40895518	40895518	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:40895518C>T	ENST00000291823.2	-	1	576	c.292G>A	c.(292-294)Gag>Aag	p.E98K		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	98	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TTCTGGAACTCGAAAAGGTTT	0.597000													40	38					0	0	1	0	0
TM9SF2	9375	broad.mit.edu	37	13	100211644	100211644	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:100211644C>T	ENST00000376387.4	+	16	1970	c.1780C>T	c.(1780-1782)Ctt>Ttt	p.L594F		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	594					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					GCGTTCATTCCTTACGAGTGG	0.348000													5	52					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57570838	57570838	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:57570838G>A	ENST00000243077.3	+	25	4472	c.4006G>A	c.(4006-4008)Gag>Aag	p.E1336K		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1336					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GACTAGTTTCGAGGTGGTGAT	0.557000													54	99					0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	333208	333208	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:333208G>A	ENST00000343164.4	-	11	1313	c.1261C>T	c.(1261-1263)Ctt>Ttt	p.L421F	SLC6A13_ENST00000539668.1_5'UTR|SLC6A13_ENST00000445055.2_Missense_Mutation_p.L329F	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	421					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GATACTCCAAGGATGAGGACT	0.577000													25	49					0	0	1	0	0
TRAV9-1	28678	broad.mit.edu	37	14	22280087	22280087	+	RNA	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:22280087C>T	ENST00000390431.3	+	0	276																											CCACTTCTTTCCACTTGGAGA	0.498000													14	7					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178540923	178540923	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:178540923C>T	ENST00000251582.7	-	22	3682	c.3581G>A	c.(3580-3582)aGa>aAa	p.R1194K		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1194					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTCTTGGATTCTTTGGTTTCT	0.438000													72	14					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73046189	73046189	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:73046189C>T	ENST00000261180.4	+	16	2724	c.2628C>T	c.(2626-2628)ttC>ttT	p.F876F		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	876					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GGATGAAATTCCATTCCACCA	0.383000													8	22					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183710262	183710262	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:183710262T>A	ENST00000511685.1	+	25	5444	c.5321T>A	c.(5320-5322)cTc>cAc	p.L1774H	TENM3_ENST00000406950.2_Missense_Mutation_p.L1774H					teneurin transmembrane protein 3																		GGCAGAAACCTCCTTTCAGTT	0.418000													11	5					0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128359348	128359348	+	Silent	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:128359348T>C	ENST00000262462.4	+	6	2210	c.1200T>C	c.(1198-1200)ttT>ttC	p.F400F	SLC27A6_ENST00000506176.1_Silent_p.F400F|SLC27A6_ENST00000395266.1_Silent_p.F400F			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	400					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGTATGACTTTCAGAAAGATG	0.323000													8	8					0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540643	169540643	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:169540643C>T	ENST00000340806.6	+	1	934	c.934C>T	c.(934-936)Cag>Tag	p.Q312*		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	312										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GGACCTAAGCCAGAACCATCT	0.567000													23	28					0	0	1	0	0
NVL	4931	broad.mit.edu	37	1	224475510	224475510	+	Silent	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:224475510T>C	ENST00000281701.6	-	14	2020	c.1761A>G	c.(1759-1761)gaA>gaG	p.E587E	NVL_ENST00000469075.1_Silent_p.E496E|NVL_ENST00000391875.2_Silent_p.E481E|NVL_ENST00000482491.1_Silent_p.E311E|NVL_ENST00000340871.4_Silent_p.E398E|NVL_ENST00000361463.3_Silent_p.E481E	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	587						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		CTCTAATGTCTTCCAGGGCAC	0.443000													31	37					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238296529	238296529	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:238296529C>T	ENST00000295550.4	-	4	1460	c.1008G>A	c.(1006-1008)cgG>cgA	p.R336R	COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000409809.1_Silent_p.R130R|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000353578.4_Silent_p.R130R|COL6A3_ENST00000346358.4_Silent_p.R336R|COL6A3_ENST00000392004.3_Silent_p.R130R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	336	Nonhelical region.|VWFA 2.				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)		TGCCCCCTGCCCGGGTGAAGT	0.622000													4	25					0	0	1	0	0
FAM131B	9715	broad.mit.edu	37	7	143054029	143054029	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:143054029C>T	ENST00000409408.1	-	6	2321	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	FAM131B_ENST00000443739.2_Missense_Mutation_p.E233K|FAM131B_ENST00000409578.1_Missense_Mutation_p.E221K|FAM131B_ENST00000409222.3_Missense_Mutation_p.E205K|FAM131B_ENST00000409346.1_Missense_Mutation_p.E205K			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	205										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					TCGCTGGCTTCCCAGGCATCT	0.547000													46	31					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209823369	209823369	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:209823369G>A	ENST00000391911.1	-	2	512	c.123C>T	c.(121-123)ctC>ctT	p.L41L	LAMB3_ENST00000356082.4_Silent_p.L41L|LAMB3_ENST00000367030.3_Silent_p.L41L	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	41	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		ATGAAGCTCGGAGAAACCGGG	0.617000													19	83					0	0	1	0	0
ACMSD	130013	broad.mit.edu	37	2	135616890	135616890	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:135616890G>A	ENST00000356140.5	+	3	298	c.162G>A	c.(160-162)tgG>tgA	p.W54*	ACMSD_ENST00000283054.4_Missense_Mutation_p.G13E|ACMSD_ENST00000392928.1_Missense_Mutation_p.G13E|AC016725.4_ENST00000392929.2_RNA	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	54					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		AGAATTGCTGGGATCCAGAAG	0.423000													6	55					0	0	1	0	0
LOC202181	202181	broad.mit.edu	37	5	177059471	177059471	+	RNA	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:177059471G>A	ENST00000515045.1	-	0	457					NR_026921.1																						TCTTCCACTAGGTCCAAATCT	0.517000													77	11					0	0	1	0	0
NFKB1	4790	broad.mit.edu	37	4	103517389	103517389	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:103517389C>T	ENST00000226574.4	+	14	1862	c.1395C>T	c.(1393-1395)acC>acT	p.T465T	NFKB1_ENST00000394820.4_Silent_p.T464T|NFKB1_ENST00000600343.1_Silent_p.T284T|NFKB1_ENST00000505458.1_Silent_p.T464T	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	464	Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	TTATTGAAACCACAGAGCAAG	0.458000													27	25					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30982823	30982823	+	Silent	SNP	C	C	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:30982823C>G	ENST00000262519.8	+	13	3827	c.3141C>G	c.(3139-3141)tcC>tcG	p.S1047S		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1047	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						cctcctcctcctcgtcctcat	0.572000													3	56					0	0	1	0	0
WDR65	149465	broad.mit.edu	37	1	43675545	43675545	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:43675545G>C	ENST00000372492.4	+	11	2211	c.1887G>C	c.(1885-1887)aaG>aaC	p.K629N	WDR65_ENST00000528956.1_Missense_Mutation_p.K629N	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	629										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTCTGCAGAAGGAATTCAATG	0.577000													21	57					0	0	1	0	0
COX4I2	84701	broad.mit.edu	37	20	30227861	30227861	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:30227861G>A	ENST00000376075.3	+	3	283	c.208G>A	c.(208-210)Gga>Aga	p.G70R	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	70					cellular respiration		cytochrome-c oxidase activity			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			GAAGGAGAAGGGAAGCTGGAC	0.587000													10	32					0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74673068	74673068	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:74673068C>T	ENST00000334011.5	+	6	1011	c.793C>T	c.(793-795)Cct>Tct	p.P265S		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	265	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					CTCTGCAGTCCCTGTGTTGTG	0.507000													65	69					0	0	1	0	0
ERCC6-PGBD3	101243544	broad.mit.edu	37	10	50724156	50724156	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:50724156A>C	ENST00000515869.1	-	6	2529	c.2409T>G	c.(2407-2409)ttT>ttG	p.F803L	ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000508005.2_Missense_Mutation_p.F335L|PGBD3_ENST00000603152.1_Missense_Mutation_p.F803L|PGBD3_ENST00000374127.3_Missense_Mutation_p.F335L|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.F803L	NM_001277059.1	NP_001263988.1																					GTGCCTCACTAAACTGAAGGA	0.433000													31	33					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12973120	12973120	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:12973120G>A	ENST00000276297.4	-	6	1804	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F	DLC1_ENST00000520226.1_5'UTR|DLC1_ENST00000358919.2_Silent_p.F28F|DLC1_ENST00000512044.2_Silent_p.F62F	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	465	SAM.				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						CATACTGGGGGAAACCAGTTG	0.423000													32	38					0	0	1	0	0
NIM1K	167359	broad.mit.edu	37	5	43280221	43280221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:43280221C>T	ENST00000512796.1	+	4	2200	c.701C>T	c.(700-702)cCt>cTt	p.P234L	NIM1_ENST00000326035.2_Missense_Mutation_p.P234L			Q8IY84	NIM1_HUMAN		234	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										TGTGGGTCTCCTCCCTACGCT	0.483000													34	55					0	0	1	0	0
DDI2	84301	broad.mit.edu	37	1	15960018	15960018	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:15960018C>T	ENST00000480945.1	+	4	761	c.590C>T	c.(589-591)cCc>cTc	p.P197L		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	197					proteolysis		aspartic-type endopeptidase activity	p.P197H(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TCTGCTGATCCCTTTGACCTT	0.438000													211	144					0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73616108	73616108	+	Missense_Mutation	SNP	G	G	A	rs148714049		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:73616108G>A	ENST00000261917.3	-	8	3319	c.2326C>T	c.(2326-2328)Ccg>Tcg	p.P776S		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	776					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGGATCAGCGGGGTCCAGATG	0.687000													31	6					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18729967	18729967	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:18729967G>A	ENST00000440756.2	-	3	509	c.407C>T	c.(406-408)tCa>tTa	p.S136L	PSD3_ENST00000327040.8_Missense_Mutation_p.S136L|PSD3_ENST00000523619.1_Missense_Mutation_p.S71L			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	136					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TTTCAGAGCTGAAATCAAAGA	0.458000													89	97					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6540402	6540402	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:6540402G>A	ENST00000263125.5	-	5	597	c.498C>T	c.(496-498)ttC>ttT	p.F166F	PRKCQ_ENST00000539722.1_Silent_p.F41F|PRKCQ_ENST00000397176.2_Silent_p.F166F	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	166					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						GCTGTGGGAAGAAGGTGGCAG	0.522000													48	82					0	0	1	0	0
INVS	27130	broad.mit.edu	37	9	102866891	102866891	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:102866891C>T	ENST00000262457.2	+	2	273	c.88C>T	c.(88-90)Cta>Tta	p.L30L	INVS_ENST00000541287.1_5'UTR|INVS_ENST00000262456.2_Silent_p.L30L|INVS_ENST00000374921.3_Silent_p.L30L|INVS_ENST00000460636.2_3'UTR	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	30					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TAAGGGTGCTCTACAGAGGCT	0.413000													22	28					0	0	1	0	0
STEAP3	55240	broad.mit.edu	37	2	120005282	120005282	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:120005282G>A	ENST00000354888.5	+	4	1024	c.520G>A	c.(520-522)Gcc>Acc	p.A174T	STEAP3_ENST00000393110.2_Missense_Mutation_p.A184T|STEAP3_ENST00000409811.1_Missense_Mutation_p.A174T|STEAP3_ENST00000393106.2_Missense_Mutation_p.A174T|STEAP3_ENST00000450943.2_Missense_Mutation_p.A174T|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393108.2_Missense_Mutation_p.A174T|STEAP3_ENST00000393107.2_Missense_Mutation_p.A174T|STEAP3_ENST00000425223.2_Missense_Mutation_p.A174T	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	174					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CCAGCCAGAAGCCAAGCGTGC	0.667000													9	5					0	0	1	0	0
RANBP3	8498	broad.mit.edu	37	19	5923822	5923822	+	Splice_Site	SNP	C	C	T	rs1141691		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:5923822C>T	ENST00000340578.6	-	12	1157		c.e12+1		RANBP3_ENST00000541471.1_Splice_Site|RANBP3_ENST00000439268.2_Splice_Site|RANBP3_ENST00000034275.8_Splice_Site|RANBP3_ENST00000591092.1_Splice_Site	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3						intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CGCTAACATACCTTTCTCAGG	0.587000													19	21					0	0	1	0	0
MAPK13	5603	broad.mit.edu	37	6	36104507	36104507	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:36104507C>T	ENST00000211287.4	+	7	832	c.570C>T	c.(568-570)gcC>gcT	p.A190A	MAPK13_ENST00000373766.5_Silent_p.A190A|MAPK13_ENST00000373759.1_Silent_p.A112A|MAPK13_ENST00000373761.6_Silent_p.A180A	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	190	Protein kinase.				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						GGTACCGAGCCCCCGAGGTGA	0.582000													18	10					0	0	1	0	0
MFI2	4241	broad.mit.edu	37	3	196749882	196749882	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:196749882C>T	ENST00000296350.5	-	5	703	c.590G>A	c.(589-591)gGg>gAg	p.G197E	MFI2_ENST00000296351.4_Missense_Mutation_p.G197E	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	197	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GTCACACACCCCTTCCCCAGA	0.657000													63	104					0	0	1	0	0
SOAT2	8435	broad.mit.edu	37	12	53516968	53516968	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:53516968C>T	ENST00000301466.3	+	13	1400	c.1340C>T	c.(1339-1341)cCc>cTc	p.P447L		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	447					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						TTCTTCTATCCCGTCATGCTG	0.587000													21	52					0	0	1	0	0
ANKMY1	51281	broad.mit.edu	37	2	241421665	241421665	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:241421665G>A	ENST00000391987.1	-	16	2919	c.2553C>T	c.(2551-2553)ccC>ccT	p.P851P	ANKMY1_ENST00000406958.1_Silent_p.P612P|ANKMY1_ENST00000403283.1_Silent_p.P753P|ANKMY1_ENST00000361678.4_Silent_p.P627P|ANKMY1_ENST00000373320.4_Silent_p.P621P|ANKMY1_ENST00000401804.1_Silent_p.P940P|ANKMY1_ENST00000373318.2_Silent_p.P630P|ANKMY1_ENST00000272972.3_Silent_p.P851P			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	851							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TCCTGTGGCTGGGGATCAGCT	0.632000													39	12					0	0	1	0	0
ROPN1B	152015	broad.mit.edu	37	3	125691007	125691007	+	Missense_Mutation	SNP	G	G	A	rs146745880		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:125691007G>A	ENST00000504401.1	+	2	359	c.110G>A	c.(109-111)gGg>gAg	p.G37E	ROPN1B_ENST00000514116.1_Missense_Mutation_p.G37E|ROPN1B_ENST00000251776.4_Missense_Mutation_p.G37E|ROPN1B_ENST00000511862.1_3'UTR			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	37	RIIa.				acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		ATCCAGTGGGGGGCCGAGTAC	0.617000													35	42					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215882781	215882781	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:215882781C>T	ENST00000272895.7	-	14	1952	c.1733G>A	c.(1732-1734)aGg>aAg	p.R578K	ABCA12_ENST00000389661.4_Missense_Mutation_p.R260K	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	578					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		gtCAATAGTCCTGTTGGACAT	0.368000													35	10					0	0	1	0	0
SDC3	9672	broad.mit.edu	37	1	31347415	31347415	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:31347415G>A	ENST00000336798.7	-	2	2209	c.717C>T	c.(715-717)ttC>ttT	p.F239F	SDC3_ENST00000339394.6_Silent_p.F297F			O75056	SDC3_HUMAN	syndecan 3	297	Ser/Thr-rich (mucin-like).					integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		TTGTGGTCAGGAAGGTCTCTG	0.607000													99	84					0	0	1	0	0
AKR1D1	6718	broad.mit.edu	37	7	137773395	137773395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:137773395G>A	ENST00000242375.3	+	2	184	c.142G>A	c.(142-144)Ggg>Agg	p.G48R	AKR1D1_ENST00000411726.2_Missense_Mutation_p.G48R|AKR1D1_ENST00000432161.1_Missense_Mutation_p.G48R|AKR1D1_ENST00000468877.2_Intron	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	48					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						TATTGACACAGGGTACCGACA	0.493000													17	18					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106130763	106130763	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:106130763C>T	ENST00000369704.3	+	7	1175	c.1041C>T	c.(1039-1041)gtC>gtT	p.V347V	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	347										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AGGCAGAAGTCGAACAGCACA	0.378000													9	16					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56953164	56953164	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:56953164G>A	ENST00000504904.3	-	7	1919	c.1200C>T	c.(1198-1200)tcC>tcT	p.S400S	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Silent_p.S400S|ZNF667_ENST00000342634.3_Silent_p.S528S			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GTTGAATAAGGGATGAATGCC	0.358000													12	14					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56244627	56244627	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:56244627C>T	ENST00000332836.2	-	2	597	c.570G>A	c.(568-570)atG>atA	p.M190I		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	190	NACHT.					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)		CGATACCGTTCATTTCACAGA	0.453000													5	17					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175742	57175742	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:57175742C>T	ENST00000537055.2	-	2	1056	c.825G>A	c.(823-825)gaG>gaA	p.E275E		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGTAGGGCTTCTCCTCCGTGT	0.687000													10	15					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120911459	120911459	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:120911459G>A	ENST00000310396.5	+	22	3310	c.2843G>A	c.(2842-2844)gGg>gAg	p.G948E		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		TTTCTACAGGGGAAGTGTGGA	0.323000													17	23					0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37622638	37622638	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:37622638G>A	ENST00000434837.2	-	5	1828	c.650C>T	c.(649-651)tCt>tTt	p.S217F	MDGA1_ENST00000505425.1_Missense_Mutation_p.S217F|MDGA1_ENST00000297153.7_Missense_Mutation_p.S217F	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	217	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						GTTACGCACAGACACCTGGCA	0.607000													89	159					0	0	1	0	0
C15orf26	161502	broad.mit.edu	37	15	81426721	81426721	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:81426721G>A	ENST00000286732.4	+	1	134	c.51G>A	c.(49-51)gaG>gaA	p.E17E		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	17										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						ACTGGAATGAGGATGTCTACC	0.602000													9	2					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124383315	124383315	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:124383315C>T	ENST00000409039.3	+	55	9265	c.9240C>T	c.(9238-9240)gcC>gcT	p.A3080A		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3080	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGAAGTCCGCCGCCTGCGAGG	0.642000													11	15					0	0	1	0	0
KIF22	3835	broad.mit.edu	37	16	29816330	29816330	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:29816330C>T	ENST00000561482.1	+	12	2306	c.1669C>T	c.(1669-1671)Cac>Tac	p.H557Y	KIF22_ENST00000160827.4_Missense_Mutation_p.H625Y|KIF22_ENST00000569382.2_Missense_Mutation_p.H571Y|KIF22_ENST00000400751.5_Missense_Mutation_p.H557Y	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	625					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						GCGGGAGCTCCACGGCCCCTT	0.662000													17	49					0	0	1	0	0
GPR142	350383	broad.mit.edu	37	17	72368372	72368372	+	Missense_Mutation	SNP	G	G	A	rs138844667		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:72368372G>A	ENST00000335666.4	+	4	1070	c.1022G>A	c.(1021-1023)cGg>cAg	p.R341Q		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	341						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CACCGGCTACGGAGGAGGGGC	0.637000													12	23					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091052	9091052	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:9091052C>T	ENST00000397910.4	-	1	966	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	255	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						AGAATCAGTTCCAGGCTTGTT	0.478000													13	18					0	0	1	0	0
CNTD1	124817	broad.mit.edu	37	17	40958723	40958723	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:40958723G>A	ENST00000588408.1	+	5	888	c.612G>A	c.(610-612)agG>agA	p.R204R	CNTD1_ENST00000588527.1_Silent_p.R121R|CNTD1_ENST00000315066.5_3'UTR	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	204										central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CAGCCATGAGGCTGCATGCAA	0.468000													180	20					0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10747048	10747048	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:10747048A>T	ENST00000586078.1	+	15	1392	c.1283A>T	c.(1282-1284)cAg>cTg	p.Q428L	SLC44A2_ENST00000407327.4_Missense_Mutation_p.Q426L|SLC44A2_ENST00000335757.5_Missense_Mutation_p.Q428L	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	428					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GCCCGTTGCCAGTTCGCCTTC	0.592000													42	53					0	0	1	0	0
TM2D2	83877	broad.mit.edu	37	8	38853913	38853913	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:38853913G>A	ENST00000456397.2	-	1	139	c.46C>T	c.(46-48)Cag>Tag	p.Q16*	TM2D2_ENST00000397070.2_5'UTR|TM2D2_ENST00000522434.1_Intron|TM2D2_ENST00000412303.1_Intron|TM2D2_ENST00000456845.2_Intron	NM_078473.2	NP_510882.1	Q9BX73	TM2D2_HUMAN	TM2 domain containing 2	16						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			AAAGCCGCCTGGCCGCACAGA	0.612000													80	107					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61689437	61689437	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:61689437G>A	ENST00000577390.1	-	11	2797	c.1843C>T	c.(1843-1845)Ctt>Ttt	p.L615F	CDH8_ENST00000577730.1_Missense_Mutation_p.L615F|CDH8_ENST00000299345.6_Missense_Mutation_p.L615F	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	615	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CCAATTGGAAGGACATAAGCT	0.478000													18	58					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21028237	21028237	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:21028237G>A	ENST00000381545.3	+	9	1015	c.796G>A	c.(796-798)Gga>Aga	p.G266R	LST3_ENST00000540229.1_Missense_Mutation_p.G266R|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G266R|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.G266R	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	266					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CCTTGTGTCTGGACTATTTTC	0.373000													28	44					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75078435	75078435	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:75078435G>A	ENST00000326665.5	-	9	1277	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	C1orf173_ENST00000420661.2_Silent_p.F156F|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	353										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCCATTCAGGAAAAAGGTGA	0.423000													11	29					0	0	1	0	0
LENG8	114823	broad.mit.edu	37	19	54966554	54966554	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:54966554C>T	ENST00000326764.5	+	8	1312	c.833C>T	c.(832-834)gCc>gTc	p.A278V	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	241							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GGGTCCTCTGCCCGGGGGAAC	0.622000													12	56					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10397696	10397696	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:10397696G>A	ENST00000226207.5	-	39	5736	c.5642C>T	c.(5641-5643)tCc>tTc	p.S1881F	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1881						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTCTTGTAGGATTTCACCTT	0.433000													93	13					0	0	1	0	0
CPEB4	80315	broad.mit.edu	37	5	173378897	173378897	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:173378897G>A	ENST00000265085.5	+	8	3190	c.1736G>A	c.(1735-1737)cGa>cAa	p.R579Q	CPEB4_ENST00000334035.5_Missense_Mutation_p.R562Q|CPEB4_ENST00000519835.1_Missense_Mutation_p.R554Q|CPEB4_ENST00000522336.1_Missense_Mutation_p.R189Q|CPEB4_ENST00000517880.1_Missense_Mutation_p.R172Q|CPEB4_ENST00000520867.1_Missense_Mutation_p.R554Q|CPEB4_ENST00000519467.1_3'UTR	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	579							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTTGACCCACGAAAAACTATA	0.428000													19	29					0	0	1	0	0
PALD1	27143	broad.mit.edu	37	10	72299398	72299398	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:72299398G>A	ENST00000263563.6	+	15	2056	c.1788G>A	c.(1786-1788)ctG>ctA	p.L596L		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		AGGGCCCCCTGACCTACAGGT	0.667000													24	32					0	0	1	0	0
PRADC1	84279	broad.mit.edu	37	2	73455927	73455927	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:73455927C>T	ENST00000258083.2	-	4	509	c.442G>A	c.(442-444)Gac>Aac	p.D148N	PRADC1_ENST00000480093.1_Intron	NM_032319.1	NP_115695.1	Q9BSG0	PADC1_HUMAN	protease-associated domain containing 1	148	PA.					extracellular region				endometrium(1)|large_intestine(1)|lung(2)	4						CCTCACCCGTCTCGGCCGAGC	0.592000													5	26					0	0	1	0	0
KLF17	128209	broad.mit.edu	37	1	44595193	44595193	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:44595193G>A	ENST00000372299.3	+	2	308	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	84					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			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)					GAATGTGAATGAAGGGGGGCC	0.557000													43	42					0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40293465	40293465	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:40293465G>A	ENST00000302541.6	+	16	2864	c.2522G>A	c.(2521-2523)aGg>aAg	p.R841K	MYRIP_ENST00000425621.1_Missense_Mutation_p.R776K|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000396217.3_Missense_Mutation_p.R752K|MYRIP_ENST00000444716.1_Missense_Mutation_p.R841K|MYRIP_ENST00000539167.1_Missense_Mutation_p.R654K	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	841	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		ACTAAGGAAAGGAAAGGCACC	0.408000													5	11					0	0	1	0	0
SUN2	25777	broad.mit.edu	37	22	39132377	39132377	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:39132377C>T	ENST00000405510.1	-	19	2407	c.2049G>A	c.(2047-2049)acG>acA	p.T683T	SUN2_ENST00000405018.1_Silent_p.T704T|SUN2_ENST00000216064.4_Silent_p.T683T|SUN2_ENST00000411587.2_Silent_p.T672T|RP3-508I15.19_ENST00000418803.1_RNA|RP3-508I15.18_ENST00000420118.1_RNA|SUN2_ENST00000406622.1_Silent_p.T683T	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	683	SUN.				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						ACGTGGCCATCGTAGGGGCCT	0.612000													10	31					0	0	1	0	0
CTSD	1509	broad.mit.edu	37	11	1775285	1775285	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:1775285G>A	ENST00000236671.2	-	7	1043	c.911C>T	c.(910-912)cCg>cTg	p.P304L	RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.R175W	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	304					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTCATCCACCGGGCCCACCAT	0.711000													14	14					0	0	1	0	0
SEC31A	22872	broad.mit.edu	37	4	83800043	83800043	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:83800043G>A	ENST00000432794.1	-	4	405	c.242C>T	c.(241-243)tCc>tTc	p.S81F	SEC31A_ENST00000508502.1_Missense_Mutation_p.S81F|SEC31A_ENST00000443462.2_Missense_Mutation_p.S76F|SEC31A_ENST00000448323.1_Missense_Mutation_p.S81F|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000311785.7_Missense_Mutation_p.S81F|SEC31A_ENST00000505984.1_Missense_Mutation_p.S81F|SEC31A_ENST00000395310.2_Missense_Mutation_p.S81F|SEC31A_ENST00000513858.1_Missense_Mutation_p.S81F|SEC31A_ENST00000505472.1_Missense_Mutation_p.S81F|SEC31A_ENST00000509142.1_Missense_Mutation_p.S81F|SEC31A_ENST00000355196.2_Missense_Mutation_p.S81F|SEC31A_ENST00000500777.2_Missense_Mutation_p.S81F|SEC31A_ENST00000348405.4_Missense_Mutation_p.S81F|SEC31A_ENST00000508479.1_Missense_Mutation_p.S81F|SEC31A_ENST00000326950.5_Missense_Mutation_p.S81F			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	81					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				ATCTCCTTTGGAATCCATTTT	0.338000													13	37					0	0	1	0	0
CEACAM4	1089	broad.mit.edu	37	19	42133291	42133291	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:42133291G>A	ENST00000221954.2	-	1	151	c.41C>T	c.(40-42)cCc>cTc	p.P14L	CEACAM4_ENST00000600925.1_Missense_Mutation_p.P14L	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	14						integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CCCCTGCCAGGGCCTGTGCCC	0.652000													17	24					0	0	1	0	0
HLA-DPA1	3113	broad.mit.edu	37	6	33036535	33036535	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:33036535G>A	ENST00000419277.1	-	5	804	c.675C>T	c.(673-675)ctC>ctT	p.L225L	HLA-DPA1_ENST00000428995.1_Silent_p.L225L	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	225					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						CCAGGGCACAGAGCACAGTCT	0.612000													71	46					0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64663970	64663970	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:64663970G>A	ENST00000421419.2	-	39	5511	c.5397C>T	c.(5395-5397)gcC>gcT	p.A1799A	ATG2A_ENST00000377264.3_Silent_p.A1797A			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1797							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TGAGTTCCAGGGCGGCAGAGG	0.637000											OREG0004026	type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	12					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73168133	73168133	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:73168133G>A	ENST00000377110.2	-	22	3524	c.3281C>T	c.(3280-3282)gCc>gTc	p.A1094V	TRPM3_ENST00000358082.3_Missense_Mutation_p.A956V|TRPM3_ENST00000396292.4_Missense_Mutation_p.A966V|TRPM3_ENST00000396285.1_Missense_Mutation_p.A953V|TRPM3_ENST00000423814.3_Missense_Mutation_p.A1121V|TRPM3_ENST00000377105.1_Missense_Mutation_p.A953V|TRPM3_ENST00000377111.2_Missense_Mutation_p.A1094V|TRPM3_ENST00000396280.5_Missense_Mutation_p.A943V|TRPM3_ENST00000408909.2_Missense_Mutation_p.A953V|TRPM3_ENST00000377106.1_Missense_Mutation_p.A966V|TRPM3_ENST00000360823.2_Missense_Mutation_p.A956V|TRPM3_ENST00000357533.2_Missense_Mutation_p.A1098V	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1119						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GAGGTAGCAGGCCATGATGGC	0.537000													12	17					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179412758	179412758	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:179412758C>T	ENST00000589042.1	-	339	93819	c.93595G>A	c.(93595-93597)Gaa>Aaa	p.E31199K	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E28631K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E22259K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E22134K|TTN_ENST00000342175.6_Missense_Mutation_p.E22326K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E29558K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29558	Fibronectin type-III 127.						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)			GAGAAGGCTTCTCTGGGTTCA	0.453000													18	0					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105947086	105947086	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:105947086G>A	ENST00000357060.3	-	14	1967	c.1852C>T	c.(1852-1854)Cct>Tct	p.P618S	WDR96_ENST00000278064.2_Missense_Mutation_p.P549S|WDR96_ENST00000428666.1_Missense_Mutation_p.P619S	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	618										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACTTCTTCAGGAAGAAGGTAG	0.398000													13	26					0	0	1	0	0
ZNF267	10308	broad.mit.edu	37	16	31927242	31927242	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:31927242C>T	ENST00000300870.10	+	4	1881	c.1672C>T	c.(1672-1674)Cct>Tct	p.P558S	RP11-170L3.8_ENST00000575471.1_RNA	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	558					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						CAAAGCCTTTCCTTATAGTTC	0.353000													25	12					0	0	1	0	0
OSBP	5007	broad.mit.edu	37	11	59348961	59348961	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:59348961A>G	ENST00000263847.1	-	10	2224	c.1745T>C	c.(1744-1746)gTa>gCa	p.V582A		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	582					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)		AATGTTGTGTACAGTTGTGGT	0.393000													3	121					0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26691026	26691026	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:26691026G>A	ENST00000436292.1	-	4	1131	c.1011C>T	c.(1009-1011)ctC>ctT	p.L337L	ZNF683_ENST00000403843.1_Silent_p.L337L|ZNF683_ENST00000374204.1_Silent_p.L337L|ZNF683_ENST00000349618.3_Silent_p.L337L			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-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;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CAGATACCTTGAGATTGGAGA	0.537000													42	160					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809476	18809476	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:18809476C>A	ENST00000400664.1	+	1	2053	c.2001C>A	c.(1999-2001)gaC>gaA	p.D667E		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	667						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGCAAGGACCGCACGGCCG	0.687000													15	33					4.96729e-08	5.04024e-08	1	1	0
CNTNAP3	79937	broad.mit.edu	37	9	39140542	39140542	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:39140542G>A	ENST00000297668.6	-	12	1923	c.1850C>T	c.(1849-1851)cCa>cTa	p.P617L	CNTNAP3_ENST00000323947.7_Missense_Mutation_p.P524L|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.P617L|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.P529L|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.P617L	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	617	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CACAAGAAATGGTCCCAGGGG	0.443000													32	9					0	0	1	0	0
SVOP	55530	broad.mit.edu	37	12	109313543	109313543	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:109313543C>T	ENST00000299134.5	-	11	979	c.980G>A	c.(979-981)gGa>gAa	p.G327E		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						GGTCAATAATCCACAGAGTCA	0.537000													3	9					0	0	1	0	0
NPEPL1	79716	broad.mit.edu	37	20	57288560	57288560	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:57288560C>T	ENST00000356091.6	+	9	1374	c.1086C>T	c.(1084-1086)gcC>gcT	p.A362A	NPEPL1_ENST00000525967.1_Silent_p.A334A|NPEPL1_ENST00000525817.1_Silent_p.A314A|STX16-NPEPL1_ENST00000530122.1_3'UTR	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	362					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			ACCTGGGGGCCGACATCATCC	0.622000													20	20					0	0	1	0	0
MGLL	11343	broad.mit.edu	37	3	127441340	127441340	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:127441340A>T	ENST00000434178.2	-	4	1198	c.302T>A	c.(301-303)tTg>tAg	p.L101*	MGLL_ENST00000453507.2_Nonsense_Mutation_p.L111*|MGLL_ENST00000265052.5_Nonsense_Mutation_p.L111*|MGLL_ENST00000398101.3_Nonsense_Mutation_p.L75*|MGLL_ENST00000398104.1_Nonsense_Mutation_p.L101*			Q99685	MGLL_HUMAN	monoglyceride lipase	101					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						CACATGCTGCAACACATCCCT	0.537000													38	95					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100841663	100841663	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:100841663C>T	ENST00000369208.3	-	11	2052	c.1270G>A	c.(1270-1272)Gat>Aat	p.D424N	SIM1_ENST00000262901.4_Missense_Mutation_p.D424N			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	424	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.D424N(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCAGGCCTATCGGCGGGGTCC	0.597000													44	7					0	0	1	0	0
HPSE2	60495	broad.mit.edu	37	10	100249954	100249954	+	Splice_Site	SNP	C	C	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:100249954C>A	ENST00000370552.3	-	10	1380		c.e10-1		HPSE2_ENST00000370549.1_Splice_Site|HPSE2_ENST00000370546.1_Splice_Site|HPSE2_ENST00000404542.1_Splice_Site	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2						carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GCCAGTAGTCCTGAGGAGAAT	0.577000													12	32					4.36969e-10	4.45254e-10	1	1	0
PPP1R2P1	100507444	broad.mit.edu	37	6	32847454	32847454	+	RNA	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:32847454G>A	ENST00000420261.1	-	0	171																											TATGTCGCCAGGATGTTCATT	0.483000													28	38					0	0	1	0	0
TAAR5	9038	broad.mit.edu	37	6	132910232	132910232	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:132910232T>A	ENST00000258034.2	-	1	645	c.594A>T	c.(592-594)aaA>aaT	p.K198N		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	198					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)		AGCCCCAAAATTTATTGAGCA	0.483000													37	5					0	0	1	0	0
DERL2	51009	broad.mit.edu	37	17	5383874	5383874	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:5383874A>G	ENST00000158771.4	-	5	411	c.356T>C	c.(355-357)tTc>tCc	p.F119S	DERL2_ENST00000572834.1_Intron|DERL2_ENST00000570848.1_Intron	NM_016041.3	NP_057125.2	Q9GZP9	DERL2_HUMAN	derlin 2	119					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	protein binding			large_intestine(3)	3						CTGGCCCAAGAAAACTAAGCT	0.443000													64	8					0	0	1	0	0
AP2A2	161	broad.mit.edu	37	11	985546	985546	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:985546T>G	ENST00000448903.2	+	8	1067	c.926T>G	c.(925-927)cTc>cGc	p.L309R	AP2A2_ENST00000332231.5_Missense_Mutation_p.L310R|AP2A2_ENST00000534328.1_Missense_Mutation_p.L309R	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	309					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		AATGCCGTGCTCTTCGAGGCC	0.577000													22	23					0	0	1	0	0
LCE3D	84648	broad.mit.edu	37	1	152552221	152552221	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:152552221C>T	ENST00000368787.3	-	2	248	c.192G>A	c.(190-192)cgG>cgA	p.R64R		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	64					keratinization					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GCCTCTGGCGCCGGCATCGGT	0.682000													30	56					0	0	1	0	0
CCDC157	550631	broad.mit.edu	37	22	30771580	30771580	+	Silent	SNP	A	A	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:30771580A>G	ENST00000405659.1	+	10	2494	c.1785A>G	c.(1783-1785)ctA>ctG	p.L595L	RP1-130H16.16_ENST00000332468.4_RNA|CCDC157_ENST00000338306.3_Silent_p.L595L			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	595										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						TCCGGGTCCTACAGGAGGAGA	0.607000													17	80					0	0	1	0	0
CLN3	1201	broad.mit.edu	37	16	28497721	28497721	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:28497721G>A	ENST00000569430.1	-	10	1443	c.624C>T	c.(622-624)tcC>tcT	p.S208S	CLN3_ENST00000568224.1_Silent_p.S130S|CLN3_ENST00000359984.7_Silent_p.S208S|CLN3_ENST00000535392.1_Silent_p.S130S|CLN3_ENST00000567963.1_Silent_p.S208S|CLN3_ENST00000565316.1_Silent_p.S208S|CLN3_ENST00000357076.5_Intron|CLN3_ENST00000395653.4_Silent_p.S108S|CLN3_ENST00000354630.5_Silent_p.S208S|CLN3_ENST00000357857.9_Silent_p.S154S|CLN3_ENST00000333496.9_Silent_p.S184S|CLN3_ENST00000355477.5_Intron|CLN3_ENST00000360019.2_Silent_p.S208S|CLN3_ENST00000357806.7_Intron			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	208					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						TCTGCTGAGGGGAGAGGCCGG	0.682000													23	14					0	0	1	0	0
WNT5B	81029	broad.mit.edu	37	12	1755352	1755352	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:1755352C>T	ENST00000397196.2	+	5	1246	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F	WNT5B_ENST00000310594.3_Silent_p.F338F|WNT5B_ENST00000545747.1_3'UTR|WNT5B_ENST00000537031.1_Silent_p.F338F	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	338					angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			ACTGCAAGTTCCACTGGTGCT	0.602000													22	44					0	0	1	0	0
C9orf64	84267	broad.mit.edu	37	9	86571209	86571209	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:86571209G>A	ENST00000376344.3	-	1	423	c.207C>T	c.(205-207)ttC>ttT	p.F69F	C9orf64_ENST00000314700.1_Intron|C9orf64_ENST00000376340.2_5'UTR	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	69										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TGTCTGTCACGAACACCCAGT	0.617000													39	31					0	0	1	0	0
PRR5L	79899	broad.mit.edu	37	11	36483943	36483943	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:36483943C>T	ENST00000378867.3	+	10	1119	c.764C>T	c.(763-765)tCc>tTc	p.S255F	PRR5L_ENST00000527487.1_3'UTR|PRR5L_ENST00000530639.1_Missense_Mutation_p.S255F|PRR5L_ENST00000311599.5_Missense_Mutation_p.S182F|PRR5L_ENST00000389693.3_3'UTR	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	255										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						AACTATGCCTCCCCGATAACC	0.587000													27	70					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9400512	9400512	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:9400512G>A	ENST00000378501.2	+	22	2089	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K	PLCB4_ENST00000414679.2_Missense_Mutation_p.E704K|PLCB4_ENST00000378493.1_Missense_Mutation_p.E692K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.E704K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E692K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E692K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	692	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CCCCTTCTCTGAAACTCCTGT	0.438000													95	152					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31599352	31599352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:31599352C>T	ENST00000376033.2	+	16	3136	c.2902C>T	c.(2902-2904)Ccc>Tcc	p.P968S	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P968S	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	968	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GCCTCCCAAGCCCCTCGAACA	0.612000													8	8					0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283498	33283498	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:33283498G>A	ENST00000431845.2	-	2	1347	c.1196C>T	c.(1195-1197)tCa>tTa	p.S399L	ZBTB22_ENST00000418724.1_Missense_Mutation_p.S399L	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						TGGCCCCCCTGAGTCATCAAG	0.617000													108	213					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103322676	103322676	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:103322676A>T	ENST00000424685.2	-	11	1335	c.1176T>A	c.(1174-1176)taT>taA	p.Y392*	RELN_ENST00000343529.5_Nonsense_Mutation_p.Y392*|RELN_ENST00000428762.1_Nonsense_Mutation_p.Y392*			P78509	RELN_HUMAN	reelin	392					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)		TTCCATGGAAATAAATGGAGT	0.438000													50	29					0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42821111	42821111	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr21:42821111C>T	ENST00000398600.2	+	16	2346	c.1321C>T	c.(1321-1323)Cgt>Tgt	p.R441C	MX1_ENST00000455164.2_Missense_Mutation_p.R441C|MX1_ENST00000398598.3_Missense_Mutation_p.R441C|MX1_ENST00000288383.6_Missense_Mutation_p.R418C	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	441					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				AAATCAGTATCGTGGTAGAGA	0.373000													49	40					0	0	1	0	0
CAMK2B	816	broad.mit.edu	37	7	44281867	44281867	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:44281867G>A	ENST00000395749.2	-	10	845	c.769C>T	c.(769-771)Cct>Tct	p.P257S	CAMK2B_ENST00000346990.4_Missense_Mutation_p.P257S|CAMK2B_ENST00000347193.4_Missense_Mutation_p.P257S|CAMK2B_ENST00000350811.3_Missense_Mutation_p.P257S|CAMK2B_ENST00000395747.2_Missense_Mutation_p.P257S|CAMK2B_ENST00000353625.4_Missense_Mutation_p.P257S|CAMK2B_ENST00000258682.6_Missense_Mutation_p.P257S|CAMK2B_ENST00000358707.3_Missense_Mutation_p.P257S|CAMK2B_ENST00000502837.2_Missense_Mutation_p.P128S|CAMK2B_ENST00000440254.2_Missense_Mutation_p.P257S|CAMK2B_ENST00000457475.1_Missense_Mutation_p.P257S	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	257	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CGCTTGGCAGGGTTGATGGTC	0.632000													68	80					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20648722	20648722	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:20648722C>T	ENST00000219151.4	-	8	1235	c.25G>A	c.(25-27)Ggg>Agg	p.G9R	ACSM1_ENST00000520010.1_Missense_Mutation_p.G390R|ACSM1_ENST00000307493.4_Missense_Mutation_p.G390R			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	390					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GTGGCCTTCCCCATGAAACCC	0.537000													18	59					0	0	1	0	0
MRPL3	11222	broad.mit.edu	37	3	131219361	131219361	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:131219361G>A	ENST00000264995.3	-	3	429	c.282C>T	c.(280-282)tcC>tcT	p.S94S	MRPL3_ENST00000425847.2_Silent_p.S121S	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	94					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						CAACTCTAAAGGAACCTGGCA	0.398000													25	43					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179498632	179498632	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:179498632C>T	ENST00000589042.1	-	231	42818	c.42594G>A	c.(42592-42594)ttG>ttA	p.L14198L	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.L11630L|TTN_ENST00000359218.5_Silent_p.L5258L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Silent_p.L5133L|TTN_ENST00000342175.6_Silent_p.L5325L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.L12557L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12557	Fibronectin type-III 2.						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)			CTTTCATTTCCAATTTGTGAG	0.398000													3	64					0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36595523	36595523	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:36595523G>A	ENST00000299440.5	+	2	781	c.669G>A	c.(667-669)agG>agA	p.R223R		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	223	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GACTCAAGAGGAAGAGTCTTC	0.537000									Familial Hemophagocytic Lymphohistiocytosis				15	34					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9248140	9248140	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:9248140G>A	ENST00000318602.7	-	16	2315	c.2008C>T	c.(2008-2010)Cta>Tta	p.L670L		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	670					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TTTACCTCTAGGAAGCTGTAC	0.353000													14	7					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903571	5903571	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:5903571G>A	ENST00000378961.4	+	4	985	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	261						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CCGAAGCCAGGAAGAATCTGA	0.597000													13	8					0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113705054	113705054	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:113705054G>A	ENST00000003302.4	-	6	606	c.538C>T	c.(538-540)Ctc>Ttc	p.L180F	USP28_ENST00000545540.1_Missense_Mutation_p.L55F|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000537706.1_Missense_Mutation_p.L180F|USP28_ENST00000260188.5_Missense_Mutation_p.L180F	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	180					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AATTGAAAGAGAGACTGAAAT	0.318000													6	3					0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51647696	51647696	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:51647696G>A	ENST00000317643.6	+	2	536	c.467G>A	c.(466-468)gGt>gAt	p.G156D	SIGLEC7_ENST00000305628.7_Intron|SIGLEC7_ENST00000600577.1_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	156	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CTTATCCCCGGTACCCTGGAG	0.612000													96	128					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532555	84532555	+	RNA	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:84532555G>A	ENST00000527857.1	+	0	2577					NR_026851.1																						AATGAGGGTCGAATGCCTGGG	0.438000													12	20					0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735130	55735130	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:55735130G>A	ENST00000312345.2	-	1	860	c.810C>T	c.(808-810)acC>acT	p.T270T		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GAATCAGAATGGTGTAGAAAA	0.348000													9	21					0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111060109	111060109	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:111060109C>T	ENST00000369771.2	-	1	1688	c.1301G>A	c.(1300-1302)gGg>gAg	p.G434E		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	434						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CACAATCTTCCCCCCTGGGGT	0.562000													27	13					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7621770	7621770	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:7621770C>T	ENST00000256861.6	-	9	1444	c.1366G>A	c.(1366-1368)Ggc>Agc	p.G456S	ITIH5_ENST00000397146.2_Missense_Mutation_p.G456S|ITIH5_ENST00000397145.2_Missense_Mutation_p.G456S|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Missense_Mutation_p.G238S|ITIH5_ENST00000298441.6_Missense_Mutation_p.G242S	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	456	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CGTGTGAGGCCACAGTTCTCC	0.622000													45	51					0	0	1	0	0
FLII	2314	broad.mit.edu	37	17	18149956	18149956	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:18149956G>A	ENST00000327031.4	-	23	3228	c.3003C>T	c.(3001-3003)acC>acT	p.T1001T	FLII_ENST00000379450.4_Silent_p.T915T|FLII_ENST00000545457.2_Silent_p.T946T|FLII_ENST00000579294.1_Silent_p.T990T|FLII_ENST00000578558.1_Intron	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	1001					multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GCAGGCTGAAGGTGAAGGTGA	0.637000													17	15					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169144387	169144387	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:169144387G>A	ENST00000256935.8	+	21	2111		c.e21-1		DOCK2_ENST00000540750.1_Splice_Site|DOCK2_ENST00000520908.1_Splice_Site	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2						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)			ATCTTCCTCAGATTTACATAA	0.463000													48	12					0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52619656	52619656	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:52619656G>A	ENST00000600228.1	-	4	1022	c.761C>T	c.(760-762)tCa>tTa	p.S254L	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TACAAAATATGAATTTTTTCT	0.398000													22	29					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11097628	11097628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:11097628C>T	ENST00000358026.2	+	5	1092	c.808C>T	c.(808-810)Ccc>Tcc	p.P270S	SMARCA4_ENST00000590574.1_Missense_Mutation_p.P270S|SMARCA4_ENST00000413806.3_Missense_Mutation_p.P270S|SMARCA4_ENST00000541122.2_Missense_Mutation_p.P270S|SMARCA4_ENST00000450717.3_Missense_Mutation_p.P270S|SMARCA4_ENST00000429416.3_Missense_Mutation_p.P270S|SMARCA4_ENST00000344626.4_Missense_Mutation_p.P270S|SMARCA4_ENST00000589677.1_Missense_Mutation_p.P270S|SMARCA4_ENST00000444061.3_Missense_Mutation_p.P270S	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	270	Necessary for interaction with SS18L1/CREST (By similarity).				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGGCGTGCCCCCCGGGATGCC	0.622000			"""F, N, Mis"""		NSCLC								35	37					0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115337808	115337808	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:115337808C>T	ENST00000351270.3	+	6	568	c.472C>T	c.(472-474)Ccc>Tcc	p.P158S	HABP2_ENST00000541666.1_Missense_Mutation_p.P158S|HABP2_ENST00000542051.1_Missense_Mutation_p.P132S|HABP2_ENST00000537906.1_Silent_p.T146T	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	158	EGF-like 3.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		CAGGCCAAACCCCTGCCAGAA	0.532000													26	39					0	0	1	0	0
RC3H1	149041	broad.mit.edu	37	1	173933295	173933295	+	Silent	SNP	G	G	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:173933295G>C	ENST00000367696.2	-	11	1998	c.1647C>G	c.(1645-1647)gcC>gcG	p.A549A	RC3H1_ENST00000258349.4_Silent_p.A549A|RC3H1_ENST00000367694.2_Silent_p.A549A			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	549	Pro-rich.				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TCACAGGTAAGGCAGAAATAC	0.398000													53	48					0	0	1	0	0
TAC4	255061	broad.mit.edu	37	17	47921472	47921472	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:47921472C>T	ENST00000334568.4	-	2	170	c.171G>A	c.(169-171)acG>acA	p.T57T	TAC4_ENST00000436235.1_Silent_p.T51T|TAC4_ENST00000352793.2_Silent_p.T51T|TAC4_ENST00000326219.5_Silent_p.T51T|TAC4_ENST00000398154.1_Silent_p.T51T	NM_170685.2	NP_733786.2	Q86UU9	TKN4_HUMAN	tachykinin 4 (hemokinin)	57					regulation of blood pressure	extracellular region		p.T57T(1)		breast(1)|large_intestine(1)|lung(3)	5						TTGCCTTGCCCGTCTTCACCT	0.577000													189	23					0	0	1	0	0
ZNF157	7712	broad.mit.edu	37	X	47272113	47272113	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:47272113G>A	ENST00000377073.3	+	4	727	c.641G>A	c.(640-642)gGg>gAg	p.G214E		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	214					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						ACTCACACAGGGGAGAGGCCC	0.443000													22	6					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2115518	2115518	+	Splice_Site	SNP	A	A	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:2115518A>G	ENST00000219476.3	+	16	2229		c.e16-1		TSC2_ENST00000350773.4_Splice_Site|TSC2_ENST00000568454.1_Splice_Site|TSC2_ENST00000353929.4_Splice_Site|TSC2_ENST00000401874.2_Splice_Site|TSC2_ENST00000439673.2_Splice_Site|TSC2_ENST00000382538.6_Splice_Site	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2						cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TTCTCTTCAAAGGTGATGGCC	0.527000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				12	276					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52516637	52516637	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:52516637G>A	ENST00000242839.4	-	15	3453	c.3297C>T	c.(3295-3297)ggC>ggT	p.G1099G	ATP7B_ENST00000448424.2_Silent_p.G1021G|ATP7B_ENST00000418097.2_Silent_p.G1034G|ATP7B_ENST00000400366.3_Silent_p.G988G|ATP7B_ENST00000400370.3_Silent_p.G669G|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000417240.2_Silent_p.G310G|ATP7B_ENST00000344297.5_Silent_p.G892G	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1099			G -> S (in WD).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CAATTCCACAGCCTGGCACTG	0.577000									Wilson disease				47	99					0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110735143	110735143	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:110735143C>T	ENST00000331565.4	+	8	1607	c.1122C>T	c.(1120-1122)atC>atT	p.I374I		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	374					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CTGAGAAAATCCTAGGGTACC	0.557000													15	72					0	0	1	0	0
NCOA4	8031	broad.mit.edu	37	10	51582882	51582882	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:51582882A>G	ENST00000452682.1	+	8	957	c.705A>G	c.(703-705)atA>atG	p.I235M	NCOA4_ENST00000374082.1_Missense_Mutation_p.I219M|NCOA4_ENST00000443446.1_Missense_Mutation_p.I219M|NCOA4_ENST00000414907.2_Missense_Mutation_p.I53M|NCOA4_ENST00000430396.2_Missense_Mutation_p.I119M|NCOA4_ENST00000374087.4_Missense_Mutation_p.I219M|NCOA4_ENST00000344348.6_Missense_Mutation_p.I219M|NCOA4_ENST00000438493.1_Missense_Mutation_p.I235M|NCOA4_ENST00000498586.1_3'UTR	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	219					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CTCCTTACATACCCAGCACCG	0.483000			T	RET	papillary thyroid								7	37					0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23926923	23926923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:23926923G>A	ENST00000402377.3	-	4	1570	c.1429C>T	c.(1429-1431)Ccc>Tcc	p.P477S	ZNF681_ENST00000395385.3_Missense_Mutation_p.P408S	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CATTTGTAGGGTTTCTCTCCA	0.363000													27	57					0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2524340	2524340	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:2524340G>A	ENST00000288709.6	-	20	2146	c.1906C>T	c.(1906-1908)Cgg>Tgg	p.R636W	MMEL1_ENST00000378412.3_Missense_Mutation_p.R645W|MMEL1_ENST00000502556.1_Missense_Mutation_p.R488W	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	645					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GACTGCTCCCGGAAGTGCTGG	0.607000													23	131					0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180372715	180372715	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:180372715C>T	ENST00000273654.4	-	13	1636	c.1017G>A	c.(1015-1017)acG>acA	p.T339T	CCDC39_ENST00000442201.2_Silent_p.T255T			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	255					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTTTTTCTCTCGTTTCCTGCT	0.289000													3	8					0	0	1	0	0
TSTA3	7264	broad.mit.edu	37	8	144697044	144697044	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:144697044G>A	ENST00000425753.2	-	4	406	c.303C>T	c.(301-303)gcC>gcT	p.A101A	TSTA3_ENST00000529064.1_Silent_p.A101A	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	101					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	CCACCTCAAAGGCCGAGTGCA	0.612000													35	62					0	0	1	0	0
HOXA3	3200	broad.mit.edu	37	7	27149908	27149908	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:27149908C>T	ENST00000396352.4	-	2	551	c.352G>A	c.(352-354)Gcg>Acg	p.A118T	HOXA3_ENST00000317201.2_Missense_Mutation_p.A118T|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	118	Pro-rich.				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						ggcgggggcgcggcaggggta	0.736000													7	17					0	0	1	0	0
OR6C2	341416	broad.mit.edu	37	12	55846192	55846192	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:55846192C>T	ENST00000322678.1	+	1	195	c.195C>T	c.(193-195)tcC>tcT	p.S65S	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						GAAATTTTTCCTTCTTAGAAG	0.398000													10	22					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422411	26422411	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:26422411G>A	ENST00000335473.7	+	43	6721	c.6470_splice	c.e43-1	p.R2157_splice	MYO18B_ENST00000407587.2_Splice_Site_p.R2158_splice|MYO18B_ENST00000536101.1_Splice_Site_p.R2157_splice	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2157						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						CTTGGCACAGGATAAACGAAG	0.488000													109	164					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066340	9066340	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:9066340G>A	ENST00000397910.4	-	3	21309	c.21106C>T	c.(21106-21108)Cct>Tct	p.P7036S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7038	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						GACCCAGAAGGACCTGTTTGA	0.478000													38	59					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140588665	140588665	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:140588665G>A	ENST00000239450.2	+	1	375	c.186G>A	c.(184-186)cgG>cgA	p.R62R	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		62	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTCTTCGCGGGGGGCTCGGG	0.507000													71	14					0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25481291	25481291	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:25481291C>T	ENST00000381884.4	-	6	1200	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	CENPJ_ENST00000545981.1_Missense_Mutation_p.E339K	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	339					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		AAGTAATCTTCAAAGGTCTGT	0.338000													5	36					0	0	1	0	0
CTTN	2017	broad.mit.edu	37	11	70267599	70267599	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:70267599A>G	ENST00000301843.8	+	11	1020	c.814A>G	c.(814-816)Aaa>Gaa	p.K272E	CTTN_ENST00000376561.3_Intron|CTTN_ENST00000538675.1_Intron|CTTN_ENST00000346329.3_Intron	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	272						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TTTTGGAGGCAAATTCGGTGT	0.502000													129	282					0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756838	56756838	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:56756838C>T	ENST00000326855.2	+	1	492	c.450C>T	c.(448-450)atC>atT	p.I150I		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						GTTCATACATCATGGGCTCAA	0.438000													31	54					0	0	1	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254876	30254876	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:30254876G>A	ENST00000361644.2	+	5	1572	c.835G>A	c.(835-837)Gcc>Acc	p.A279T	MAGEB3_ENST00000378986.1_Missense_Mutation_p.A279T	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	279	MAGE.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						GGGTCCAAGAGCCCATGCTGA	0.488000													36	5					0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44490150	44490150	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:44490150G>A	ENST00000425708.2	-	7	1354	c.1013C>T	c.(1012-1014)tCa>tTa	p.S338L	ZNF445_ENST00000396077.2_Missense_Mutation_p.S338L			P59923	ZN445_HUMAN	zinc finger protein 445	338					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AGGACATCCTGATGACACAGC	0.403000													33	8					0	0	1	0	0
C2orf40	84417	broad.mit.edu	37	2	106694261	106694261	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:106694261G>A	ENST00000409944.1	+	5	449	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	C2orf40_ENST00000238044.3_Missense_Mutation_p.R109Q			Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	109						extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						AACAGAGATCGAAATGGACAT	0.453000													10	93					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19184164	19184164	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:19184164G>A	ENST00000263200.10	-	25	3949	c.3877C>T	c.(3877-3879)Cgt>Tgt	p.R1293C	CLTCL1_ENST00000427926.1_Missense_Mutation_p.R1293C|CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000353891.5_Missense_Mutation_p.R1293C	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1293	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AAGTAGCCACGATCCTAGCAG	0.622000			T	?	ALCL								17	21					0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116048881	116048881	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:116048881G>A	ENST00000603594.1	+	12	2076	c.1755G>A	c.(1753-1755)ctG>ctA	p.L585L	VWA2_ENST00000392982.3_Silent_p.L585L	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	585	VWFA 3.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CCTTCGGGCTGGACACCAAAC	0.642000													13	20					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101544502	101544502	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:101544502G>A	ENST00000370449.4	+	2	284	c.171G>A	c.(169-171)aaG>aaA	p.K57K	ABCC2_ENST00000370434.1_Silent_p.K57K	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	57						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CCAGGACCAAGAGATCCTCTA	0.468000													32	30					0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182521566	182521566	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:182521566C>T	ENST00000410087.3	-	1	268	c.168G>A	c.(166-168)agG>agA	p.R56R	CERKL_ENST00000374970.2_Silent_p.R56R|CERKL_ENST00000409440.3_Silent_p.R56R|CERKL_ENST00000339098.5_Silent_p.R56R|CERKL_ENST00000374969.2_Silent_p.R56R|CERKL_ENST00000479558.1_Intron	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	56					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CACAACTGTCCCTCCCGATCT	0.711000													6	71					0	0	1	0	0
ITCH	83737	broad.mit.edu	37	20	33067434	33067434	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:33067434G>A	ENST00000374864.4	+	18	1871		c.e18-1		ITCH_ENST00000483727.1_Splice_Site|ITCH_ENST00000535650.1_Splice_Site|ITCH_ENST00000262650.6_Splice_Site	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase						apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TTTGATTTCAGAGAATGGTTC	0.378000													4	26					0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36064993	36064993	+	Silent	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:36064993T>C	ENST00000258840.6	-	37	6069	c.5679A>G	c.(5677-5679)gtA>gtG	p.V1893V	RALGAPA1_ENST00000307138.6_Silent_p.V1846V|RALGAPA1_ENST00000389698.3_Silent_p.V1846V|RALGAPA1_ENST00000382366.3_Silent_p.V1859V			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1846	Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP.				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTGTAAGATTTACCTAGAAGT	0.328000													10	3					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8661987	8661987	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:8661987C>T	ENST00000270328.4	-	7	1190	c.924G>A	c.(922-924)ggG>ggA	p.G308G	ADAMTS10_ENST00000597188.1_Silent_p.G308G			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	308	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CCAGGGACTTCCCGGCATGGT	0.582000													64	76					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141460054	141460054	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:141460054T>A	ENST00000389484.3	-	38	7063	c.6092A>T	c.(6091-6093)aAg>aTg	p.K2031M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2031					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)		AAGGACAACCTTCTCTGAGCC	0.418000										TSP Lung(27;0.18)			19	12					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164396	139164396	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:139164396G>A	ENST00000395297.1	-	13	2492	c.2322C>T	c.(2320-2322)ccC>ccT	p.P774P		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	774										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)			TACTGATGTGGGGAGCAGATA	0.522000										HNSCC(54;0.14)			32	40					0	0	1	0	0
POLD4	57804	broad.mit.edu	37	11	67120853	67120853	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:67120853G>A	ENST00000312419.3	-	1	164	c.18C>T	c.(16-18)ctC>ctT	p.L6L	POLD4_ENST00000539074.1_Silent_p.L6L|AP003419.11_ENST00000543494.1_RNA|POLD4_ENST00000529704.1_Intron	NM_021173.4	NP_066996.3	Q9HCU8	DPOD4_HUMAN	polymerase (DNA-directed), delta 4, accessory subunit	6					base-excision repair|DNA strand elongation involved in DNA replication|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	DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(15;3.08e-06)			AATCAGTGATGAGCCGCTTCC	0.662000													18	37					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839353	62839353	+	Silent	SNP	A	A	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:62839353A>G	ENST00000536311.1	+	7	1168	c.804A>G	c.(802-804)gaA>gaG	p.E268E	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.E268E			Q01538	MYT1_HUMAN	myelin transcription factor 1	268	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E268E(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaagaggaggagg	0.572000													2	9					0	0	1	0	0
NFS1	9054	broad.mit.edu	37	20	34263027	34263027	+	Silent	SNP	C	C	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:34263027C>A	ENST00000374092.4	-	8	958	c.888G>T	c.(886-888)gtG>gtT	p.V296V	NFS1_ENST00000374085.1_Silent_p.V236V|NFS1_ENST00000397425.1_Silent_p.V236V|NFS1_ENST00000541387.1_Silent_p.V245V|NFS1_ENST00000540053.1_Silent_p.V94V	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	296					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	AGGGTGTGGGCACTGTCCCAG	0.657000													71	86					6.47592e-44	6.68319e-44	1	1	0
RANBP3	8498	broad.mit.edu	37	19	5923823	5923823	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:5923823C>T	ENST00000340578.6	-	12	1156	c.1099_splice	c.e12+1	p.E367_splice	RANBP3_ENST00000541471.1_Splice_Site_p.E239_splice|RANBP3_ENST00000439268.2_Splice_Site_p.E362_splice|RANBP3_ENST00000034275.8_Splice_Site_p.E299_splice|RANBP3_ENST00000591092.1_Splice_Site_p.E294_splice	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	367				E -> G (in Ref. 1; CAA69957).	intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						GCTAACATACCTTTCTCAGGG	0.592000													20	21					0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55638907	55638907	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:55638907T>G	ENST00000370830.3	-	4	1665	c.967A>C	c.(967-969)Aat>Cat	p.N323H	BMP5_ENST00000446683.2_Missense_Mutation_p.N323H	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	323					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CGGTTTTGATTTTTTCGTTTG	0.473000													19	36					0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	140744261	140744261	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:140744261G>A	ENST00000389328.4	-	22	3548	c.3534C>T	c.(3532-3534)acC>acT	p.T1178T	TRAPPC9_ENST00000438773.2_Silent_p.T1080T|TRAPPC9_ENST00000389327.3_Silent_p.T1071T|TRAPPC9_ENST00000522504.1_5'UTR	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	1080					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CGAAGGAGACGGTGTCGTGCA	0.652000													4	14					0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900372	151900372	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:151900372G>A	ENST00000393900.3	-	3	782	c.429C>T	c.(427-429)ttC>ttT	p.F143F	MAGEA12_ENST00000393869.3_Silent_p.F143F|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Silent_p.F143F	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	143	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAGTCCTGGAAATTTCTGA	0.507000													75	8					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31115691	31115691	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:31115691C>T	ENST00000597505.1	-	14	2023	c.2024G>A	c.(2023-2025)gGa>gAa	p.G675E	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	91					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ACTCCACTTTCCAATGGAAAC	0.448000													16	26					0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	224008966	224008966	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:224008966G>A	ENST00000343537.7	-	2	422	c.131C>T	c.(130-132)cCc>cTc	p.P44L	TP53BP2_ENST00000391878.2_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	38					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)		ACTCTCGCCGGGTTCTTTGCA	0.468000													87	7					0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24310004	24310004	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:24310004T>C	ENST00000357002.4	+	4	1317	c.1202T>C	c.(1201-1203)gTt>gCt	p.V401A	ZNF254_ENST00000342944.6_Missense_Mutation_p.V316A	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	401					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATAATTCATGTTGGAGAGAAA	0.338000													2	9					0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126155217	126155217	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:126155217G>A	ENST00000393425.1	+	17	1908	c.1809G>A	c.(1807-1809)gaG>gaA	p.E603E	CCDC37_ENST00000505024.1_Silent_p.E603E|CCDC37_ENST00000506204.1_3'UTR|CCDC37_ENST00000352312.1_Silent_p.E602E			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	602	Poly-Glu.									NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		TGGACAAGGAGGAGGAGGAGC	0.527000													37	58					0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48267270	48267270	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:48267270C>T	ENST00000302329.3	+	1	663	c.615C>T	c.(613-615)gtC>gtT	p.V205V		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GTTTTGGGGTCCTCTTAGCAT	0.527000													20	45					0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69318946	69318946	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:69318946G>A	ENST00000260364.5	+	3	376	c.75G>A	c.(73-75)ggG>ggA	p.G25G	NOX5_ENST00000388866.3_Silent_p.G43G|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Silent_p.G36G|NOX5_ENST00000448182.3_Silent_p.G25G|NOX5_ENST00000530406.2_Silent_p.G43G			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	43	N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GAGAAGATGGGGAGATCAGCC	0.537000													35	12					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25432759	25432759	+	RNA	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:25432759G>A	ENST00000424208.1	+	0	761				SNORD115-10_ENST00000365073.1_RNA	NR_003305.1																						ATTACGCTGAGGCCCAGCCTA	0.493000													237	31					0	0	1	0	0
PSMA7	5688	broad.mit.edu	37	20	60712006	60712006	+	Splice_Site	SNP	C	C	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:60712006C>A	ENST00000370873.4	-	7	781		c.e7-1		PSMA7_ENST00000370861.1_Splice_Site|PSMA7_ENST00000484488.1_Splice_Site	NM_002792.3	NP_002783.1	O14818	PSA7_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 7						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			large_intestine(1)|lung(2)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			GATTTAAAATCTATAGAAAAA	0.398000											OREG0026105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	33					1.10513e-12	1.12926e-12	1	1	0
EPHA2	1969	broad.mit.edu	37	1	16464675	16464675	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:16464675G>A	ENST00000358432.5	-	5	1139	c.985C>T	c.(985-987)Ccc>Tcc	p.P329S		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	329	Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		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;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GGGGCGGAGGGGGGTCCTGCA	0.667000													5	30					0	0	1	0	0
SH3GL2	6456	broad.mit.edu	37	9	17795610	17795610	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:17795610G>A	ENST00000380607.4	+	9	1048	c.928G>A	c.(928-930)Gga>Aga	p.G310R	SH3GL2_ENST00000537391.1_Missense_Mutation_p.G263R	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	310	SH3.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		AGGGGAGTTGGGATTTAAAGA	0.478000													8	6					0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81972454	81972454	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:81972454C>T	ENST00000359376.3	+	29	3461	c.3247C>T	c.(3247-3249)Ccc>Tcc	p.P1083S		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1083	C2.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TATTGCCTGTCCCTTTGTAGA	0.527000													38	18					0	0	1	0	0
ZBTB9	221504	broad.mit.edu	37	6	33423088	33423088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:33423088C>T	ENST00000395064.2	+	2	479	c.211C>T	c.(211-213)Cct>Tct	p.P71S		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	71	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						TGCTGCCTCTCCTTACTTCCA	0.557000													93	343					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073356	17073356	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:17073356C>T	ENST00000359963.3	-	1	344	c.85G>A	c.(85-87)Gag>Aag	p.E29K		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	29					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGGGGCTCCTCCTCTTCTGGA	0.662000													44	59					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109352090	109352090	+	Missense_Mutation	SNP	C	C	T	rs140279690		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:109352090C>T	ENST00000283195.6	+	5	634	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	170					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						TGTGAACATCCGGCTAGTGGA	0.433000													132	191					0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203681256	203681256	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:203681256G>A	ENST00000357681.5	+	13	3323	c.2200G>A	c.(2200-2202)Gag>Aag	p.E734K	ATP2B4_ENST00000367218.3_Missense_Mutation_p.E734K|ATP2B4_ENST00000341360.2_Missense_Mutation_p.E734K|ATP2B4_ENST00000391954.2_Missense_Mutation_p.E734K|ATP2B4_ENST00000367219.3_Missense_Mutation_p.E722K	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	734					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CATCCGCAACGAGAAAGGCGA	0.562000													66	4					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13776634	13776634	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:13776634C>T	ENST00000265104.4	-	55	9391	c.9287G>A	c.(9286-9288)cGa>cAa	p.R3096Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3096	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGCTCTGTTTCGAAATTTCTC	0.478000									Kartagener syndrome				4	33					0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24652710	24652710	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:24652710G>A	ENST00000354464.6	-	21	2249	c.2073C>T	c.(2071-2073)ttC>ttT	p.F691F	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	691					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TGTATGGAAGGAAGGCCACAC	0.587000													7	19					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180022198	180022198	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:180022198C>T	ENST00000367607.3	+	23	5304	c.4886C>T	c.(4885-4887)cCt>cTt	p.P1629L		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1629						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						TCATTACTACCTTCAGAGAGT	0.373000													28	3					0	0	1	0	0
OVCH2	341277	broad.mit.edu	37	11	7727857	7727857	+	RNA	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:7727857T>C	ENST00000454689.1	-	0	84				RP11-35J10.5_ENST00000527565.1_lincRNA|OVCH2_ENST00000534193.1_RNA|RP11-35J10.4_ENST00000527443.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		AACTTACCTTTGGGGAGCGAA	0.393000													3	5					0	0	1	0	0
ACKR3	57007	broad.mit.edu	37	2	237490146	237490146	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:237490146C>T	ENST00000272928.3	+	2	1348	c.1038C>T	c.(1036-1038)gcC>gcT	p.A346A		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		TCATCGATGCCTCCAGAGTCT	0.517000													35	11					0	0	1	0	0
MELK	9833	broad.mit.edu	37	9	36671045	36671045	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:36671045C>T	ENST00000543751.1	+	15	1605	c.1460C>T	c.(1459-1461)cCa>cTa	p.P487L	MELK_ENST00000538311.1_Missense_Mutation_p.P325L|MELK_ENST00000541717.1_Missense_Mutation_p.P478L|MELK_ENST00000536860.1_Missense_Mutation_p.P471L|MELK_ENST00000536987.1_Missense_Mutation_p.P388L|MELK_ENST00000545008.1_Missense_Mutation_p.P448L|MELK_ENST00000298048.2_Missense_Mutation_p.P519L|MELK_ENST00000536329.1_Missense_Mutation_p.P448L	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	519						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			GAGGAGACTCCAAAAAGAAAG	0.502000													28	3					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1263990	1263990	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:1263990G>A	ENST00000447027.1	+	31	5947	c.5889G>A	c.(5887-5889)ggG>ggA	p.G1963G	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.G1960G			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1960	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)		CCAGTCCAGGGACTGCAACCG	0.637000													105	86					0	0	1	0	0
NARS	4677	broad.mit.edu	37	18	55274437	55274437	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr18:55274437G>A	ENST00000256854.5	-	9	1385	c.930C>T	c.(928-930)gcC>gcT	p.A310A	NARS_ENST00000423481.2_Silent_p.A61A	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	310					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	CATCTCCCAGGGCTGGGAGGC	0.463000													36	46					0	0	1	0	0
SOX13	9580	broad.mit.edu	37	1	204091518	204091518	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:204091518C>T	ENST00000367204.1	+	9	1124	c.1015C>T	c.(1015-1017)Ctg>Ttg	p.L339L		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	339	Pro-rich.				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CCCCCCGAGCCTGCCTCTGGG	0.677000													8	0					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56953163	56953163	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:56953163G>A	ENST00000504904.3	-	7	1920	c.1201C>T	c.(1201-1203)Ctt>Ttt	p.L401F	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Missense_Mutation_p.L401F|ZNF667_ENST00000342634.3_Missense_Mutation_p.L529F			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TGTTGAATAAGGGATGAATGC	0.358000													12	13					0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24310230	24310230	+	Silent	SNP	C	C	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:24310230C>A	ENST00000357002.4	+	4	1543	c.1428C>A	c.(1426-1428)acC>acA	p.T476T	ZNF254_ENST00000342944.6_Silent_p.T391T	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	476					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				GGTCCTCAACCCTAACTAGAC	0.393000													5	55					0.184627	0.184755	1	1	0
DNAH10	196385	broad.mit.edu	37	12	124341761	124341761	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:124341761G>A	ENST00000409039.3	+	36	6268	c.6243G>A	c.(6241-6243)ctG>ctA	p.L2081L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2081	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGCAGGTCCTGGAGGAGAACG	0.527000													23	39					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201779105	201779105	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:201779105C>T	ENST00000367296.4	+	23	4853	c.4433C>T	c.(4432-4434)aCc>aTc	p.T1478I	NAV1_ENST00000295624.6_Missense_Mutation_p.T1475I|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Missense_Mutation_p.T1431I|NAV1_ENST00000367300.3_Missense_Mutation_p.T1418I|NAV1_ENST00000367295.1_Missense_Mutation_p.T1084I|NAV1_ENST00000367297.4_Missense_Mutation_p.T1470I	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1478					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCAGCCTCTACCCTGGGACTA	0.483000													25	77					0	0	1	0	0
SMOC1	64093	broad.mit.edu	37	14	70490067	70490067	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:70490067G>A	ENST00000381280.4	+	11	1447	c.1194G>A	c.(1192-1194)aaG>aaA	p.K398K	SMOC1_ENST00000361956.3_Silent_p.K398K	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	398	EF-hand 2.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	p.K398N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CCAAGCCCAAGAAATGTGCCC	0.512000													101	10					0	0	1	0	0
LDB1	8861	broad.mit.edu	37	10	103869429	103869429	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:103869429G>A	ENST00000361198.5	-	8	1175	c.552C>T	c.(550-552)ccC>ccT	p.P184P	LDB1_ENST00000425280.1_Silent_p.P220P	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	220					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		CCAACATCTGGGGGTCTTGGG	0.532000													35	52					0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1080336	1080336	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:1080336G>A	ENST00000313093.2	+	14	2017	c.1786G>A	c.(1786-1788)Gaa>Aaa	p.E596K	HMHA1_ENST00000543365.1_Missense_Mutation_p.E479K|HMHA1_ENST00000536472.1_Missense_Mutation_p.E436K|HMHA1_ENST00000590577.1_Missense_Mutation_p.E231K|HMHA1_ENST00000590214.1_Missense_Mutation_p.E623K|HMHA1_ENST00000586866.1_Missense_Mutation_p.E600K|HMHA1_ENST00000539243.2_Missense_Mutation_p.E612K	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	596					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCCCAGAAGAAGGCGGGTG	0.706000													13	30					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072047	34072047	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:34072047C>T	ENST00000254466.6	-	6	2496	c.2469G>A	c.(2467-2469)aaG>aaA	p.K823K	GAS2L2_ENST00000587565.1_Silent_p.K807K	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	823					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTCCCCTCCCTTGCTGCCCA	0.632000													75	10					0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79354082	79354082	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:79354082C>T	ENST00000350881.2	+	4	784	c.594C>T	c.(592-594)gcC>gcT	p.A198A	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Silent_p.A107A	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	198					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TCCAGGTGGCCAGCCTGCAAG	0.527000													8	3					0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72916645	72916645	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:72916645T>A	ENST00000319642.1	-	2	468	c.286A>T	c.(286-288)Aac>Tac	p.N96Y		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	96					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					TGGTAGTCGTTGTCTAGGCAC	0.607000													98	12					0	0	1	0	0
ZWILCH	55055	broad.mit.edu	37	15	66821880	66821880	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:66821880A>T	ENST00000307897.5	+	12	1504	c.1124A>T	c.(1123-1125)cAg>cTg	p.Q375L	ZWILCH_ENST00000565627.1_Missense_Mutation_p.Q261L|ZWILCH_ENST00000535141.2_Missense_Mutation_p.Q261L|ZWILCH_ENST00000446801.2_Missense_Mutation_p.Q261L	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	375					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TTGATCATCCAGAGTCTACAA	0.398000													74	8					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2831998	2831998	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:2831998C>T	ENST00000520002.1	-	57	9273	c.8718G>A	c.(8716-8718)tgG>tgA	p.W2906*	CSMD1_ENST00000542608.1_Nonsense_Mutation_p.W2847*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.W2905*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.W2848*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.W2848*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.W2906*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2906	Sushi 21.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTGCCCCGCTCCAGTGACTGT	0.502000													26	38					0	0	1	0	0
SYNGR4	23546	broad.mit.edu	37	19	48879538	48879538	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:48879538C>T	ENST00000344846.2	+	5	918	c.668C>T	c.(667-669)cCa>cTa	p.P223L	SYNGR4_ENST00000601610.1_3'UTR	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	223						integral to membrane				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		CTGACCGCTCCAAAGTCCCCC	0.537000													21	41					0	0	1	0	0
ZNF615	284370	broad.mit.edu	37	19	52497604	52497604	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:52497604G>A	ENST00000602063.1	-	6	1074	c.725C>T	c.(724-726)tCc>tTc	p.S242F	ZNF615_ENST00000376716.5_Missense_Mutation_p.S242F|ZNF615_ENST00000594083.1_Missense_Mutation_p.S253F|ZNF615_ENST00000598071.1_Missense_Mutation_p.S253F|ZNF615_ENST00000391795.3_Missense_Mutation_p.S247F			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GGATTTTCTGGAGAAAGCTTT	0.408000													48	63					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71134991	71134991	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:71134991G>A	ENST00000333538.5	+	8	1935	c.1301G>A	c.(1300-1302)aGa>aAa	p.R434K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	434						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GTCTCCGAAAGAAGAGCATTA	0.463000													24	61					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70853291	70853291	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:70853291C>T	ENST00000333538.5	+	3	1127	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	165	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GAACGAGGCCCTGTCGGTGAT	0.537000													57	44					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37264484	37264484	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:37264484C>T	ENST00000310758.4	-	9	1348	c.701_splice	c.e9+1	p.G234_splice	ELMO1_ENST00000448602.1_Splice_Site_p.G234_splice|ELMO1_ENST00000442504.1_Splice_Site_p.G234_splice	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	234					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						GCATGCTTACCCTTGCAGGTG	0.493000													42	111					0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28501757	28501757	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:28501757C>T	ENST00000412168.2	+	5	568	c.479C>T	c.(478-480)tCt>tTt	p.S160F	GPX5_ENST00000469384.1_3'UTR|GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	160					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	CCTCATCCCTCTGAGATTTTG	0.453000													53	131					0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	100970981	100970981	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:100970981G>A	ENST00000375066.5	-	9	2210	c.2119C>T	c.(2119-2121)Ccc>Tcc	p.P707S	TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000342112.5_Missense_Mutation_p.P489S|TBC1D2_ENST00000375064.1_Missense_Mutation_p.P707S|TBC1D2_ENST00000375063.1_Missense_Mutation_p.P247S	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	707	Rab-GAP TBC.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CCGATGGTGGGGTTCTGCCAG	0.602000													20	44					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23901907	23901907	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:23901907C>T	ENST00000355349.3	-	5	605	c.443G>A	c.(442-444)aGc>aAc	p.S148N		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	148	Myosin head-like.		S -> I (in CMH1).		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)		CGGGGCCTCGCTCCTCTTCTT	0.597000													118	15					0	0	1	0	0
SLC25A25	114789	broad.mit.edu	37	9	130854363	130854363	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:130854363C>T	ENST00000373066.5	+	1	621	c.214C>T	c.(214-216)Cct>Tct	p.P72S	SLC25A25_ENST00000373069.5_Intron|RP11-379C10.4_ENST00000453870.1_RNA|SLC25A25_ENST00000432073.2_Missense_Mutation_p.P72S|SLC25A25_ENST00000373068.2_Intron	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	52	EF-hand 1.				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						AGAGCAGTTTCCTAAGGTAAT	0.522000													16	22					0	0	1	0	0
GRHL1	29841	broad.mit.edu	37	2	10136028	10136028	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:10136028G>A	ENST00000324907.9	+	13	1657	c.1521G>A	c.(1519-1521)ccG>ccA	p.P507P	GRHL1_ENST00000324883.5_Silent_p.P318P|GRHL1_ENST00000405379.2_Silent_p.P507P|GRHL1_ENST00000480736.1_5'UTR	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	507					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		AAAGGGGGCCGTACGGCACAG	0.468000													4	270					0	0	1	0	0
TRIP10	9322	broad.mit.edu	37	19	6750333	6750333	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:6750333C>T	ENST00000600428.1	+	12	1580	c.934C>T	c.(934-936)Ctt>Ttt	p.L312F	TRIP10_ENST00000313285.8_Missense_Mutation_p.L420F|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000596758.1_Missense_Mutation_p.L420F|TRIP10_ENST00000313244.9_Missense_Mutation_p.L476F			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	476	Interaction with CDC42.|Interaction with PDE6G (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AAGTCGAGTCCTTAGCAACCG	0.667000													66	76					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99575609	99575609	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:99575609C>T	ENST00000376460.1	-	5	513	c.433G>A	c.(433-435)Gat>Aat	p.D145N	DOCK9_ENST00000339416.2_Missense_Mutation_p.D146N|DOCK9_ENST00000448493.2_Missense_Mutation_p.D157N|DOCK9_ENST00000442173.1_Missense_Mutation_p.D145N	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	146					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGAAGTTTATCCAACTTGACC	0.403000													44	91					0	0	1	0	0
STT3B	201595	broad.mit.edu	37	3	31617941	31617941	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:31617941T>C	ENST00000295770.2	+	2	577	c.368T>C	c.(367-369)tTa>tCa	p.L123S	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	123					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TATGAATTTTTAAATTGGTTT	0.289000													27	8					0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41594481	41594481	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:41594481G>A	ENST00000330436.3	+	1	105	c.105G>A	c.(103-105)ccG>ccA	p.P35P		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	35					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	AGCTGCCTCCGGGACCCACCC	0.582000													40	54					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413978	105413978	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:105413978C>T	ENST00000333244.5	-	7	7929	c.7810G>A	c.(7810-7812)Gcc>Acc	p.A2604T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2604						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACATCGGGGGCTGTCACTTCC	0.627000													159	22					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123130369	123130369	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:123130369C>T	ENST00000264501.4	+	18	2181	c.1808C>T	c.(1807-1809)tCt>tTt	p.S603F	KIAA1109_ENST00000388738.3_Missense_Mutation_p.S603F|KIAA1109_ENST00000455637.1_Missense_Mutation_p.S603F|KIAA1109_ENST00000495260.1_Intron			Q2LD37	K1109_HUMAN	KIAA1109	603					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGTAAATATTCTTTATTTATG	0.318000													7	25					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46318953	46318953	+	Missense_Mutation	SNP	C	C	T	rs139603157		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:46318953C>T	ENST00000359930.4	-	5	1505	c.654G>A	c.(652-654)atG>atA	p.M218I	SULF2_ENST00000467815.1_Missense_Mutation_p.M218I|SULF2_ENST00000484875.1_Missense_Mutation_p.M218I|SULF2_ENST00000361612.4_Missense_Mutation_p.M218I	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	218					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)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GGCTGATGACCATGAGGACTG	0.572000													59	56					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76506498	76506498	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:76506498C>T	ENST00000389840.5	-	27	4316	c.4192G>A	c.(4192-4194)Gac>Aac	p.D1398N	DNAH17_ENST00000585328.1_Missense_Mutation_p.D1399N					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACGGCCTTGTCCACGATGTTG	0.542000													75	170					0	0	1	0	0
UBE2D4	51619	broad.mit.edu	37	7	43978038	43978038	+	Silent	SNP	C	C	T	rs146582539	byFrequency	TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:43978038C>T	ENST00000222402.2	+	2	122	c.33C>T	c.(31-33)acC>acT	p.T11T	UBE2D4_ENST00000446008.1_Silent_p.T11T|UBE2D4_ENST00000394798.4_5'UTR	NM_015983.3	NP_057067.1	Q9Y2X8	UB2D4_HUMAN	ubiquitin-conjugating enzyme E2D 4 (putative)	11					protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)	5						AGGAATTAACCGACTTGCAGA	0.488000													47	173					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24359083	24359083	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:24359083C>T	ENST00000175238.6	+	20	2285	c.2202C>T	c.(2200-2202)ttC>ttT	p.F734F	ADAM7_ENST00000520720.1_Silent_p.F506F|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Silent_p.F734F|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	734					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AAATTCATTTCCTAAATGTAA	0.383000													22	22					0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69120344	69120344	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:69120344C>T	ENST00000229179.4	+	19	1974	c.1642C>T	c.(1642-1644)Cgc>Tgc	p.R548C	NUP107_ENST00000378905.2_Missense_Mutation_p.R397C|NUP107_ENST00000539906.1_Missense_Mutation_p.R519C	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	548					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			ACACCTGCTTCGCTTTATGAC	0.378000													29	38					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063255	9063255	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:9063255G>A	ENST00000397910.4	-	3	24394	c.24191C>T	c.(24190-24192)tCc>tTc	p.S8064F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8066	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						TCCAGAACTGGAGGTCCCCAC	0.473000													17	28					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32140250	32140250	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:32140250G>A	ENST00000312561.4	+	5	5494	c.5080G>A	c.(5080-5082)Gag>Aag	p.E1694K	KIAA1551_ENST00000535596.1_3'UTR	NM_018169.3	NP_060639.3			KIAA1551																		AGACAGCCAAGAGAGAGGTAA	0.294000													12	15					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766169	57766169	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:57766169C>T	ENST00000371030.2	+	1	95	c.95C>T	c.(94-96)tCa>tTa	p.S32L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	32	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGCCAGGCCTCACCTCACCTG	0.697000													20	24					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103271215	103271215	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:103271215G>T	ENST00000520539.1	-	57	8705	c.8099C>A	c.(8098-8100)tCa>tAa	p.S2700*	UBR5_ENST00000518205.1_Nonsense_Mutation_p.S428*|UBR5_ENST00000220959.4_Nonsense_Mutation_p.S2699*|UBR5_ENST00000521922.1_Nonsense_Mutation_p.S2693*	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2700	HECT.				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)			TGTCCTACCTGATTCATCATT	0.343000													12	40					3.52763e-06	3.56696e-06	1	1	0
ARHGEF25	115557	broad.mit.edu	37	12	58010182	58010182	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:58010182G>A	ENST00000286494.4	+	14	1996	c.1536G>A	c.(1534-1536)caG>caA	p.Q512Q	ARHGEF25_ENST00000333972.7_Silent_p.Q551Q|ARHGEF25_ENST00000477314.1_3'UTR|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000593846.1_RNA	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	512					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						ATCAGGCCCAGGGCAGCACAC	0.602000													15	43					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117914376	117914376	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:117914376C>T	ENST00000425217.1	-	17	2442	c.2388G>A	c.(2386-2388)caG>caA	p.Q796Q	KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000339824.5_Silent_p.Q825Q	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	825	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCAGCCATTCTGGATGCGCA	0.587000													6	9					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98559063	98559063	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:98559063C>T	ENST00000359863.4	+	45	6857	c.6648C>T	c.(6646-6648)ctC>ctT	p.L2216L	TRRAP_ENST00000355540.3_Silent_p.L2198L|TRRAP_ENST00000446306.3_Silent_p.L2197L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2216	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACAGCCTTCTCTCGCGCCTGA	0.562000													41	89					0	0	1	0	0
MRPS18C	51023	broad.mit.edu	37	4	84377277	84377277	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:84377277T>C	ENST00000295491.4	+	1	160	c.47T>C	c.(46-48)tTg>tCg	p.L16S	MRPS18C_ENST00000507019.1_Missense_Mutation_p.L16S|MRPS18C_ENST00000507349.1_Missense_Mutation_p.L16S	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C	16					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				AGGAAGAAGTTGACACACTTG	0.527000													36	216					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809477	18809477	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:18809477C>G	ENST00000400664.1	+	1	2054	c.2002C>G	c.(2002-2004)Cgc>Ggc	p.R668G		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	668						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCAAGGACCGCACGGCCGA	0.687000													15	33					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	40982966	40982966	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:40982966C>T	ENST00000324545.7	+	2	718	c.85C>T	c.(85-87)Caa>Taa	p.Q29*	USP9X_ENST00000378308.2_Nonsense_Mutation_p.Q29*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	29					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GCCCCCCCTCCAACAGAATCA	0.557000													3	15					0	0	1	0	0
FGF13	2258	broad.mit.edu	37	X	137715022	137715022	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:137715022C>T	ENST00000315930.6	-	5	1388	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	FGF13_ENST00000441825.2_Missense_Mutation_p.E224K|FGF13_ENST00000370603.3_Missense_Mutation_p.E253K|FGF13_ENST00000541469.1_Missense_Mutation_p.E197K|FGF13_ENST00000305414.4_Missense_Mutation_p.E190K	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	243					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					TACGTTGATTCATTGTGGCTC	0.517000													75	9					0	0	1	0	0
ARL14	80117	broad.mit.edu	37	3	160395517	160395517	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:160395517C>T	ENST00000320767.2	+	1	570	c.383C>T	c.(382-384)cCt>cTt	p.P128L		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	128					small GTPase mediated signal transduction	intracellular	GTP binding			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			CAAGACATGCCTGGAGCTCTG	0.468000													39	48					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47855819	47855819	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:47855819T>C	ENST00000371754.4	-	15	3898	c.3445A>G	c.(3445-3447)Acc>Gcc	p.T1149A	DDX27_ENST00000371764.4_Missense_Mutation_p.V645A|DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000469991.1_5'UTR			Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	0							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAGGCAGTGGTCCAAGAGCCC	0.493000													9	46					0	0	1	0	0
PIGU	128869	broad.mit.edu	37	20	33233114	33233114	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:33233114G>A	ENST00000452740.2	-	3	219	c.220C>T	c.(220-222)Cat>Tat	p.H74Y	PIGU_ENST00000374820.2_Intron			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	74					attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						ATTAGGAAATGAAAGAGGTAT	0.279000													13	20					0	0	1	0	0
WIPI1	55062	broad.mit.edu	37	17	66426264	66426264	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:66426264C>T	ENST00000262139.5	-	9	837	c.838G>A	c.(838-840)Gga>Aga	p.G280R	WIPI1_ENST00000546360.1_Missense_Mutation_p.G198R|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	280					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						AACATCTTTCCCATGTAGCCA	0.562000													17	38					0	0	1	0	0
ST6GALNAC4	27090	broad.mit.edu	37	9	130670814	130670814	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:130670814G>A	ENST00000335791.5	-	6	1041	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	ST6GALNAC4_ENST00000495983.1_5'UTR|ST6GALNAC4_ENST00000343609.2_Missense_Mutation_p.R172W	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	256					glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						TCATCTAGCCGGCCCTTCTCA	0.637000													34	50					0	0	1	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135926253	135926253	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:135926253C>T	ENST00000264158.8	+	24	2891	c.2848C>T	c.(2848-2850)Ccc>Tcc	p.P950S	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.P957S|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.P906S|ZRANB3_ENST00000412849.1_Intron	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	950						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		GCGCCCTGCTCCCTACTCCAA	0.537000													29	75					0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21852052	21852052	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:21852052C>A	ENST00000216297.2	-	1	373	c.35G>T	c.(34-36)cGg>cTg	p.R12L	SUPT16H_ENST00000555943.1_Missense_Mutation_p.R12L	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	12					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTTCACTCGCCGATAATAAGC	0.567000													36	9					4.01344e-20	4.12137e-20	1	1	0
KITLG	4254	broad.mit.edu	37	12	88939578	88939578	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:88939578C>T	ENST00000347404.5	-	2	652	c.80G>A	c.(79-81)gGg>gAg	p.G27E	KITLG_ENST00000357116.4_Intron|KITLG_ENST00000228280.5_Missense_Mutation_p.G27E	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN	KIT ligand	27					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						CCTGCAGATCCCTTCAGTTTT	0.378000									Testicular Cancer, Familial Clustering of				7	15					0	0	1	0	0
ANKRD32	84250	broad.mit.edu	37	5	94027899	94027899	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:94027899C>T	ENST00000265140.5	+	20	3052	c.2633C>T	c.(2632-2634)cCt>cTt	p.P878L	ANKRD32_ENST00000493934.1_3'UTR	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	878										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		GGGGTGACTCCTTTGCATGAT	0.448000													19	23					0	0	1	0	0
PLA2G2F	64600	broad.mit.edu	37	1	20466008	20466008	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:20466008G>A	ENST00000375102.3	+	1	190	c.88G>A	c.(88-90)Ggg>Agg	p.G30R		NM_022819.3	NP_073730.3	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	0					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CCCACGCTTCGGGGCCTCCTG	0.602000													4	4					0	0	1	0	0
PHYHIP	9796	broad.mit.edu	37	8	22078975	22078975	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:22078975G>A	ENST00000454243.2	-	5	1458	c.884C>T	c.(883-885)tCc>tTc	p.S295F	PHYHIP_ENST00000321613.3_Missense_Mutation_p.S295F	NM_014759.3	NP_055574.3	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	295										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		GGTGCCCAGGGACAGGTCGAC	0.607000													102	132					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8418550	8418550	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:8418550G>A	ENST00000337907.3	-	21	4679	c.4045C>T	c.(4045-4047)Cgg>Tgg	p.R1349W	RERE_ENST00000476556.1_Missense_Mutation_p.R795W|RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Missense_Mutation_p.R1081W|RERE_ENST00000400908.2_Missense_Mutation_p.R1349W	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1349					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GCGCTGTGCCGGGCAAAGTGC	0.692000													9	18					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6167790	6167790	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:6167790C>T	ENST00000264870.3	-	13	2074	c.1809G>A	c.(1807-1809)gcG>gcA	p.A603A		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	603					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	AGTGCAGGGACGCTTGTTCCA	0.527000													13	43					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47836465	47836465	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr21:47836465C>T	ENST00000359568.5	+	30	6740	c.6633C>T	c.(6631-6633)ccC>ccT	p.P2211P	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2211					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGGCTGGGCCCCGGAAGAGCC	0.617000													39	56					0	0	1	0	0
STAMBP	10617	broad.mit.edu	37	2	74074526	74074526	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:74074526G>A	ENST00000394070.2	+	5	891	c.388G>A	c.(388-390)Gag>Aag	p.E130K	STAMBP_ENST00000339566.3_Missense_Mutation_p.E130K|STAMBP_ENST00000536064.1_Missense_Mutation_p.E130K|STAMBP_ENST00000409707.1_Missense_Mutation_p.E130K|STAMBP_ENST00000394073.1_Missense_Mutation_p.E130K	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	130	Glu-rich.				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						GAAGGAAGCAGAGGAATTGGC	0.458000													31	13					0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143853322	143853322	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:143853322C>T	ENST00000507359.2	+	3	2023	c.932C>T	c.(931-933)tCc>tTc	p.S311F	KCTD16_ENST00000512467.1_Missense_Mutation_p.S311F	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	311						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			AATGACCTCTCCACATCTAGC	0.582000													54	9					0	0	1	0	0
TEAD3	7005	broad.mit.edu	37	6	35454395	35454395	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:35454395G>A	ENST00000338863.7	-	2	272	c.45C>T	c.(43-45)gcC>gcT	p.A15A	TEAD3_ENST00000402886.3_5'UTR	NM_003214.3	NP_003205.2	Q99594	TEAD3_HUMAN	TEA domain family member 3	15					female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						CATCCTCCCGGGCCTCCCCGG	0.701000													40	27					0	0	1	0	0
REV1	51455	broad.mit.edu	37	2	100022401	100022401	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:100022401G>A	ENST00000258428.3	-	17	3010	c.2782C>T	c.(2782-2784)Ctg>Ttg	p.L928L	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Silent_p.L927L	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	928					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCTATACTCAGGTTAAGTCTC	0.403000								Direct reversal of damage					59	17					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131887509	131887509	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:131887509C>T	ENST00000359827.3	-	12	3444	c.2482G>A	c.(2482-2484)Ggc>Agc	p.G828S	PLXNA4_ENST00000321063.4_Missense_Mutation_p.G828S			Q9HCM2	PLXA4_HUMAN	plexin A4	828	PSI 3.					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						TGGCCTGGGCCCTGGCACCAG	0.637000													7	7					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144998534	144998534	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:144998534C>T	ENST00000322810.4	-	31	6143	c.5974G>A	c.(5974-5976)Gcg>Acg	p.A1992T	PLEC_ENST00000398774.2_Missense_Mutation_p.A1823T|PLEC_ENST00000354589.3_Missense_Mutation_p.A1855T|PLEC_ENST00000356346.3_Missense_Mutation_p.A1841T|PLEC_ENST00000527096.1_Missense_Mutation_p.A1878T|PLEC_ENST00000345136.3_Missense_Mutation_p.A1855T|PLEC_ENST00000354958.2_Missense_Mutation_p.A1833T|PLEC_ENST00000436759.2_Missense_Mutation_p.A1882T|PLEC_ENST00000357649.2_Missense_Mutation_p.A1859T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1992	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCTTGAGCGCGATCTCCGCC	0.736000													3	28					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120150480	120150480	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:120150480C>T	ENST00000392521.2	-	36	4655	c.4600G>A	c.(4600-4602)Gaa>Aaa	p.E1534K	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.E1492K	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1492	PH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		AGCTCAAATTCTTCCACCGGC	0.522000													33	37					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64394104	64394104	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:64394104G>A	ENST00000262043.3	+	4	821	c.481G>A	c.(481-483)Gca>Aca	p.A161T	PHF3_ENST00000393387.1_Missense_Mutation_p.A161T|PHF3_ENST00000509330.1_Missense_Mutation_p.A161T			Q92576	PHF3_HUMAN	PHD finger protein 3	161					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CACAAAAAAAGCATCTGGGAA	0.393000													80	262					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115466111	115466111	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:115466111G>A	ENST00000369522.3	+	21	2000	c.1760G>A	c.(1759-1761)aGa>aAa	p.R587K	SYCP1_ENST00000369518.1_Missense_Mutation_p.R587K	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	587					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAACAGAAAAGAGATGAAGTT	0.274000													4	5					0	0	1	0	0
LRRC6	23639	broad.mit.edu	37	8	133627289	133627289	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:133627289G>A	ENST00000519595.1	-	8	1067	c.969C>T	c.(967-969)gtC>gtT	p.V323V	LRRC6_ENST00000250173.1_Silent_p.V323V|LRRC6_ENST00000518642.1_Silent_p.V323V			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	323	CS.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TTTACCTATAGACAGCAAGGT	0.303000													25	39					0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13098175	13098175	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:13098175C>T	ENST00000399002.2	+	8	1229	c.955C>T	c.(955-957)Ctg>Ttg	p.L319L	SPTLC3_ENST00000378194.4_Intron	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	319					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	CATCGTGCATCTGCCCCAGAT	0.502000													55	151					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142479926	142479926	+	RNA	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:142479926G>A	ENST00000603901.1	+	0	58					NR_001296.3																						CCCCTTTGATGATGATGACAA	0.547000													115	71					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195711423	195711423	+	RNA	SNP	A	A	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:195711423A>G	ENST00000427841.1	-	0	524					NR_003264.2																						CTCTTGTACTAGAAACAGACC	0.552000													3	75					0	0	1	0	0
SMO	6608	broad.mit.edu	37	7	128851509	128851509	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:128851509G>A	ENST00000249373.3	+	11	2114	c.1834G>A	c.(1834-1836)Gct>Act	p.A612T	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	612					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGAGCCCTCAGCTGATGTCTC	0.577000			Mis		skin basal cell								88	66					0	0	1	0	0
ZNF415	55786	broad.mit.edu	37	19	53612696	53612696	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:53612696G>A	ENST00000455735.2	-	7	1066	c.746C>T	c.(745-747)tCa>tTa	p.S249L	ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000601493.1_5'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000500065.4_Missense_Mutation_p.S201L|ZNF415_ENST00000440291.1_Missense_Mutation_p.S188L|ZNF415_ENST00000243643.4_Missense_Mutation_p.S201L|ZNF415_ENST00000421033.1_Missense_Mutation_p.S213L|ZNF415_ENST00000448501.1_Missense_Mutation_p.S249L			Q09FC8	ZN415_HUMAN	zinc finger protein 415	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TGTGAGTAATGAAGAACAGAT	0.383000													30	41					0	0	1	0	0
SH3BP1	23616	broad.mit.edu	37	22	38051524	38051524	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:38051524C>T	ENST00000357436.4	+	18	2252	c.1939C>T	c.(1939-1941)Cca>Tca	p.P647S	Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000599616.1_Intron	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	647					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CCCGGCCTCCCCAGGTCCAGC	0.706000													6	18					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37026648	37026648	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:37026648G>A	ENST00000358047.3	+	1	217	c.165G>A	c.(163-165)atG>atA	p.M55I		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	55										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						CGGAGGGCATGGACGACTTCC	0.557000													21	2					0	0	1	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987431	154987431	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:154987431C>A	ENST00000368426.3	+	3	432	c.295C>A	c.(295-297)Cta>Ata	p.L99I	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.L99I|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.L133I|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.L99I	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	99	BTB.				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCAGAGGCACTAGGCGCCCT	0.672000													18	16					2.4624e-09	2.50381e-09	1	1	0
EVC	2121	broad.mit.edu	37	4	5806560	5806560	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:5806560C>T	ENST00000382674.2	+	17	2737	c.2553C>T	c.(2551-2553)gtC>gtT	p.V851V	EVC_ENST00000264956.6_Silent_p.V851V			P57679	EVC_HUMAN	Ellis van Creveld syndrome	851					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CCCAGGCGGTCCACCAGAGGT	0.582000													15	29					0	0	1	0	0
ZNF540	163255	broad.mit.edu	37	19	38103100	38103100	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:38103100G>A	ENST00000592533.1	+	5	1251	c.919G>A	c.(919-921)Gtt>Att	p.V307I	ZNF540_ENST00000343599.5_Missense_Mutation_p.V307I|ZNF540_ENST00000316433.4_Missense_Mutation_p.V307I|ZNF540_ENST00000589117.1_Missense_Mutation_p.V275I	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGTGGAAAAGTTTTTCAACT	0.303000													8	17					0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5021131	5021131	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:5021131C>T	ENST00000321543.1	+	1	919	c.919C>T	c.(919-921)Cac>Tac	p.H307Y		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGAATTCTCCACAAGTTTGT	0.403000													22	9					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179412796	179412796	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:179412796A>G	ENST00000589042.1	-	339	93781	c.93557T>C	c.(93556-93558)gTg>gCg	p.V31186A	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V28618A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V22246A|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V22121A|TTN_ENST00000342175.6_Missense_Mutation_p.V22313A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V29545A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29545	Fibronectin type-III 127.						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)			CTTGGCCTTCACACGGAATTC	0.463000													6	40					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6678293	6678293	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:6678293C>T	ENST00000245907.6	-	40	4812	c.4720G>A	c.(4720-4722)Gat>Aat	p.D1574N	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1574	NTR.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TGCACCTCATCCGAGCCTGGA	0.597000													25	36					0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48429244	48429244	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:48429244G>A	ENST00000224605.2	-	2	907	c.642C>T	c.(640-642)cgC>cgT	p.R214R		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	214					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						CGCCATCCCGGCGGGCCGCCT	0.721000													17	13					0	0	1	0	0
RP11-464F9.1	0	broad.mit.edu	37	10	75482224	75482224	+	RNA	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:75482224C>T	ENST00000399449.3	-	0	618				BMS1P4_ENST00000584747.1_RNA|RP11-574K11.28_ENST00000580790.1_RNA																							TTGAAGAAGTCGAGGTGGGTG	0.383000													15	14					0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	66021535	66021535	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:66021535C>T	ENST00000443035.3	-	11	1577	c.1362G>A	c.(1360-1362)ctG>ctA	p.L454L	DENND4A_ENST00000431932.2_Silent_p.L454L	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	454	DENN.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTGCTAAAGCCAGTGGGCAGA	0.423000													7	1					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17699085	17699085	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:17699085C>T	ENST00000399080.2	-	1	621	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	200										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GATTTAGTTTCCTTGTAAAAG	0.299000													4	46					0	0	1	0	0
BTN2A1	11120	broad.mit.edu	37	6	26460004	26460004	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:26460004C>T	ENST00000429381.1	+	3	590	c.378C>T	c.(376-378)taC>taT	p.Y126Y	BTN2A1_ENST00000469185.1_Silent_p.Y126Y|BTN2A1_ENST00000541522.1_Silent_p.Y65Y|BTN2A1_ENST00000312541.5_Silent_p.Y126Y			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	126	Ig-like V-type.				lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						ACCGCTGTTACTTCCAAGAAG	0.537000													26	39					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100356181	100356181	+	RNA	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:100356181G>A	ENST00000542585.1	+	0	3627				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TTGGTCTACGGAGACCCTCAT	0.602000													7	5					0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13916456	13916456	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:13916456C>T	ENST00000285018.4	-	2	590	c.286G>A	c.(286-288)Gag>Aag	p.E96K	WNT7A_ENST00000497808.1_5'UTR	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	96					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						ACTTTGAGCTCCTTCCCGAAG	0.587000													24	2					0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189713187	189713187	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:189713187G>A	ENST00000319332.5	-	2	722	c.525C>T	c.(523-525)ttC>ttT	p.F175F	LEPREL1_ENST00000427335.2_5'UTR	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	175					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	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-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGTTAGCCACGAAAAATGTGT	0.433000													29	42					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42794644	42794644	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:42794644C>T	ENST00000572681.2	+	11	4519	c.4451C>T	c.(4450-4452)cCc>cTc	p.P1484L	CIC_ENST00000575354.2_Missense_Mutation_p.P575L|CIC_ENST00000160740.3_Missense_Mutation_p.P575L			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	575					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CGGCCCCCACCCCCTGGGGCT	0.672000			"""Mis, F, S"""		oligodendroglioma								23	33					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059493	9059493	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:9059493G>A	ENST00000397910.4	-	3	28156	c.27953C>T	c.(27952-27954)aCt>aTt	p.T9318I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9320	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						GGAGACCTCAGTAGTAGCACC	0.512000													31	46					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155507613	155507613	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:155507613G>A	ENST00000302053.3	-	5	1046	c.968C>T	c.(967-969)cCt>cTt	p.P323L	FGA_ENST00000403106.3_Missense_Mutation_p.P323L	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	323					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGAGCTCCCAGGTTTCCAGGT	0.567000													19	41					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158257886	158257886	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:158257886G>A	ENST00000296526.7	+	11	2156	c.1831G>A	c.(1831-1833)Gat>Aat	p.D611N	GRIA2_ENST00000507898.1_Missense_Mutation_p.D564N|GRIA2_ENST00000264426.9_Missense_Mutation_p.D611N|GRIA2_ENST00000393815.2_Missense_Mutation_p.D564N|GRIA2_ENST00000449365.1_Missense_Mutation_p.D564N	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	611					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GCAAGGATGCGATATTTCGCC	0.398000													16	72					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64973537	64973537	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:64973537G>A	ENST00000399262.2	-	8	2608	c.2390C>T	c.(2389-2391)cCc>cTc	p.P797L	JMJD1C_ENST00000402544.1_Missense_Mutation_p.P578L|JMJD1C_ENST00000399251.1_Missense_Mutation_p.P578L|JMJD1C_ENST00000542921.1_Missense_Mutation_p.P615L	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	797					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TAACACAGTGGGAAGTAAATG	0.507000													13	17					0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30883522	30883522	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:30883522G>A	ENST00000321897.5	+	4	1016		c.e4-1		VARS2_ENST00000416670.2_Splice_Site|VARS2_ENST00000542001.1_Splice_Site|VARS2_ENST00000541562.1_Splice_Site			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial						valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TCTTCCTCTAGGCCCGGCTGC	0.527000													65	69					0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45316363	45316363	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:45316363C>T	ENST00000313237.5	-	3	278	c.128G>A	c.(127-129)gGa>gAa	p.G43E	PHF21B_ENST00000396103.3_Missense_Mutation_p.G43E|PHF21B_ENST00000447824.3_Missense_Mutation_p.G31E|PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000404079.2_Missense_Mutation_p.G31E	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	43							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		AGTGATCGTTCCCAAAGCCTG	0.627000													12	36					0	0	1	0	0
CTSD	1509	broad.mit.edu	37	11	1775286	1775286	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:1775286G>A	ENST00000236671.2	-	7	1042	c.910C>T	c.(910-912)Ccg>Tcg	p.P304S	RP11-295K3.1_ENST00000427721.1_Silent_p.A174A	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	304					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCATCCACCGGGCCCACCATG	0.711000													14	13					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1079275	1079275	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:1079275G>A	ENST00000308624.5	+	2	273	c.144G>A	c.(142-144)acG>acA	p.T48T	SNTG2_ENST00000407292.1_Silent_p.T48T	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	48					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGAAGCTGACGAAAGAGGTGC	0.468000													46	9					0	0	1	0	0
GLP1R	2740	broad.mit.edu	37	6	39033567	39033567	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:39033567G>A	ENST00000373256.4	+	4	407	c.364G>A	c.(364-366)Gac>Aac	p.D122N		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	122					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	GCCCTGGAGGGACTTGTCGGA	0.642000													11	17					0	0	1	0	0
ZNF75D	7626	broad.mit.edu	37	X	134421469	134421469	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:134421469G>A	ENST00000370766.3	-	7	3842	c.1133C>T	c.(1132-1134)tCt>tTt	p.S378F	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.S283F	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	378					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AATAAGATCAGAGCTAACTCT	0.408000													19	2					0	0	1	0	0
SPDL1	54908	broad.mit.edu	37	5	169021206	169021206	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:169021206C>T	ENST00000265295.4	+	5	868	c.589C>T	c.(589-591)Ctt>Ttt	p.L197F	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		GCTAGAACTTCTTATTACTAA	0.383000													11	23					0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151785505	151785505	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:151785505A>T	ENST00000356728.6	-	8	1294	c.1140T>A	c.(1138-1140)ttT>ttA	p.F380L	RORC_ENST00000480719.1_5'UTR|RORC_ENST00000392697.3_Missense_Mutation_p.F455L|RORC_ENST00000318247.6_Missense_Mutation_p.F401L	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	RAR-related orphan receptor C	401	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGGAGAAGTCAAAGATGGAGC	0.537000													35	50					0	0	1	0	0
NBN	4683	broad.mit.edu	37	8	90958432	90958432	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:90958432G>A	ENST00000265433.3	-	13	2160	c.2006C>T	c.(2005-2007)tCc>tTc	p.S669F	NBN_ENST00000409330.1_Missense_Mutation_p.S587F	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	669					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGGATTTCTGGAAGTAGAGTT	0.328000								Homologous recombination					21	37					0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32367002	32367002	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:32367002C>T	ENST00000298386.2	+	16	1634	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	RXFP2_ENST00000380314.1_Silent_p.F497F	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	521						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TGGAGAAGTTCCTGGTCATTG	0.507000													16	21					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	69281676	69281676	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:69281676G>A	ENST00000433211.1	-	5	677	c.503C>T	c.(502-504)tCt>tTt	p.S168F	CTNNA3_ENST00000373744.4_Missense_Mutation_p.S168F|CTNNA3_ENST00000545309.1_Missense_Mutation_p.S168F	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	168					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CTGGAGGTCAGATTTGTTGGC	0.393000													21	32					0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62788589	62788589	+	RNA	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:62788589G>A	ENST00000582986.1	-	0	2020					NR_024386.1																						ACAGAGACGCGTTCACCATCT	0.627000													36	102					0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999214	27999214	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:27999214C>T	ENST00000441525.1	-	1	352	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	80	Glu-rich.							p.E80K(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CTTTCAAGTTCGACGTCTTCA	0.488000													67	8					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47305233	47305233	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:47305233C>T	ENST00000396220.1	-	10	1318	c.1296G>A	c.(1294-1296)cgG>cgA	p.R432R	PREX1_ENST00000371941.3_Silent_p.R432R			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	432	DEP 1.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TCAGCTTTCTCCGGCGGTCCT	0.562000													20	77					0	0	1	0	0
CD300A	11314	broad.mit.edu	37	17	72469847	72469847	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:72469847G>A	ENST00000360141.3	+	2	501	c.213G>A	c.(211-213)agG>agA	p.R71R	CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000310828.5_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	71	Ig-like V-type.				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						CAGGAAAAAGGAACGGCCGAG	0.522000													25	47					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179561797	179561797	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:179561797G>A	ENST00000444136.1	+	2	297	c.47G>A	c.(46-48)aGg>aAg	p.R16K	TDRD5_ENST00000294848.8_Missense_Mutation_p.R16K|TDRD5_ENST00000367614.1_Missense_Mutation_p.R16K	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	16	Lotus/OST-HTH 1.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AAGGAAATAAGGTCACTTCTC	0.493000													53	162					0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107080872	107080872	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:107080872G>A	ENST00000392842.1	+	6	1002	c.588G>A	c.(586-588)gaG>gaA	p.E196E	RFX4_ENST00000357881.4_Silent_p.E205E|RFX4_ENST00000229387.5_Silent_p.E102E|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	196					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						TGCCTGAGGAGAAGGTAACTA	0.483000													42	47					0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19318163	19318163	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:19318163G>A	ENST00000461366.1	+	10	1304	c.1089G>A	c.(1087-1089)ggG>ggA	p.G363G		NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	363							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CTGCCCCAGGGAGGCGGCGGA	0.637000													26	4					0	0	1	0	0
F9	2158	broad.mit.edu	37	X	138643952	138643952	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:138643952C>T	ENST00000218099.2	+	8	1115	c.1108C>T	c.(1108-1110)Cag>Tag	p.Q370*	F9_ENST00000394090.2_Nonsense_Mutation_p.Q332*	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	370	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TTTAGTTCTTCAGTACCTTAG	0.448000													33	5					0	0	1	0	0
RNF183	138065	broad.mit.edu	37	9	116060265	116060265	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:116060265G>A	ENST00000478815.1	-	1	1780	c.200C>T	c.(199-201)tCa>tTa	p.S67L	RNF183_ENST00000441031.3_Missense_Mutation_p.S67L|RNF183_ENST00000416588.2_Missense_Mutation_p.S67L|RNF183_ENST00000297894.5_Missense_Mutation_p.S67L			Q96D59	RN183_HUMAN	ring finger protein 183	67						integral to membrane	zinc ion binding			lung(1)|prostate(1)|skin(1)	3						AGGCTGCCCTGAGGCCAGCAC	0.662000													26	24					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734245	12734245	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:12734245A>T	ENST00000380682.1	+	15	2173	c.1667A>T	c.(1666-1668)cAa>cTa	p.Q556L		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	556					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						TGTATACCCCAAATGACCACC	0.453000													84	13					0	0	1	0	0
RPGR	6103	broad.mit.edu	37	X	38150212	38150212	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:38150212C>T	ENST00000378505.2	-	13	1748	c.1572_splice	c.e13+1	p.K524_splice	RPGR_ENST00000309513.3_Splice_Site_p.K462_splice|RPGR_ENST00000339363.3_Splice_Site_p.K524_splice|RPGR_ENST00000318842.7_Splice_Site_p.K524_splice|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Splice_Site_p.K524_splice|RPGR_ENST00000338898.3_3'UTR	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	524					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						CATATTATACCTTTTGTTTCT	0.269000													11	5					0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70071286	70071286	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:70071286C>T	ENST00000446444.1	-	4	1011		c.e4-1		RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11						estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TCCACAGAACCTGTTACAGTA	0.398000													5	19					0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62547972	62547972	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:62547972G>A	ENST00000430451.2	+	4	1611	c.1414G>A	c.(1414-1416)Gag>Aag	p.E472K		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	472										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)		TCTGGTTCTGGAGCCAAGAAG	0.473000													12	1					0	0	1	0	0
F2RL3	9002	broad.mit.edu	37	19	17000832	17000832	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:17000832C>T	ENST00000248076.3	+	2	888	c.558C>T	c.(556-558)gcC>gcT	p.A186A	F2RL3_ENST00000599210.1_3'UTR	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	186					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GGGCCCGCGCCCTGCGTGGCC	0.711000													10	6					0	0	1	0	0
IGKV1-5	28299	broad.mit.edu	37	2	89247063	89247063	+	RNA	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:89247063G>A	ENST00000496168.1	-	0	287																											GTCTCCTACAGATGCAGACAG	0.468000													8	135					0	0	1	0	0
TPK1	27010	broad.mit.edu	37	7	144288563	144288563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:144288563G>A	ENST00000549981.1	-	9	826	c.103C>T	c.(103-105)Cca>Tca	p.P35S	TPK1_ENST00000538212.2_Intron|TPK1_ENST00000378099.3_Intron|TPK1_ENST00000360057.3_Missense_Mutation_p.P152S|TPK1_ENST00000547966.1_5'UTR			Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	152					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ATTATAATTGGAAAAGGAGTG	0.448000													57	57					0	0	1	0	0
ANKRD32	84250	broad.mit.edu	37	5	94027898	94027898	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:94027898C>G	ENST00000265140.5	+	20	3051	c.2632C>G	c.(2632-2634)Cct>Gct	p.P878A	ANKRD32_ENST00000493934.1_3'UTR	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	878										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CGGGGTGACTCCTTTGCATGA	0.448000													19	24					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554378	140554378	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:140554378C>T	ENST00000231137.3	+	1	2136	c.1962C>T	c.(1960-1962)gcC>gcT	p.A654A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		654	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCGCTCGGCCACCGCCACGC	0.706000													51	7					0	0	1	0	0
WASF1	8936	broad.mit.edu	37	6	110424719	110424719	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:110424719A>T	ENST00000392589.1	-	9	1591	c.755T>A	c.(754-756)cTt>cAt	p.L252H	WASF1_ENST00000392586.1_Missense_Mutation_p.L252H|WASF1_ENST00000359451.2_Missense_Mutation_p.L252H|WASF1_ENST00000392588.1_Missense_Mutation_p.L252H|WASF1_ENST00000392587.2_Missense_Mutation_p.L252H	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	252					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		CAAGGCAGAAAGTGAGTAAGA	0.413000													41	7					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702693	27702693	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:27702693C>T	ENST00000438700.3	-	1	604	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	163					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TCTTCCTCTTCGTCCTTGGGT	0.662000													25	77					0	0	1	0	0
NTSR1	4923	broad.mit.edu	37	20	61386057	61386057	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:61386057C>T	ENST00000370501.3	+	2	1106	c.735C>T	c.(733-735)ttC>ttT	p.F245F		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	245						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			TCATGTCCTTCATATTCCCCA	0.607000													44	240					0	0	1	0	0
ART1	417	broad.mit.edu	37	11	3681336	3681336	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:3681336G>A	ENST00000250693.1	+	3	688	c.587G>A	c.(586-588)aGg>aAg	p.R196K		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	196					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	GCCACCGTGAGGCTGGGGGGC	0.682000													5	7					0	0	1	0	0
DDX3X	1654	broad.mit.edu	37	X	41203370	41203370	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:41203370G>A	ENST00000399959.2	+	9	1708	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K	DDX3X_ENST00000542215.1_Missense_Mutation_p.G300E|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.E269K|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	285	Helicase ATP-binding.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						GATCTACGAGGAAGCCAGAAA	0.363000										HNSCC(61;0.18)			11	0					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			145	97					0	0	1	0	0
SOHLH2	54937	broad.mit.edu	37	13	36776168	36776168	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:36776168C>T	ENST00000379881.3	-	2	199	c.111G>A	c.(109-111)caG>caA	p.Q37Q	SOHLH2_ENST00000317764.6_Silent_p.Q37Q|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.Q114Q|SOHLH2_ENST00000554962.1_Silent_p.Q114Q	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CAAATAGTTTCTGTACAGTAT	0.428000													23	72					0	0	1	0	0
PHB2	11331	broad.mit.edu	37	12	7079364	7079364	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:7079364G>A	ENST00000535923.1	-	2	488	c.207C>T	c.(205-207)caC>caT	p.H69H	PHB2_ENST00000399433.2_Silent_p.H69H|PHB2_ENST00000544134.1_5'UTR|PHB2_ENST00000542912.1_Silent_p.H69H|PHB2_ENST00000546111.1_Silent_p.H69H|PHB2_ENST00000440277.1_Silent_p.H69H	NM_001144831.1	NP_001138303.1	Q99623	PHB2_HUMAN	prohibitin 2	69					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						ATTACCTGAAGTGAAGGCCCT	0.597000													12	161					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75086477	75086477	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:75086477T>A	ENST00000326665.5	-	8	1159	c.941A>T	c.(940-942)tAt>tTt	p.Y314F	C1orf173_ENST00000420661.2_Missense_Mutation_p.Y117F|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	314										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTGCTGCTGATAAACTTTAAT	0.363000													31	33					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91091009	91091009	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:91091009G>A	ENST00000373094.1	+	1	1351	c.506G>A	c.(505-507)gGa>gAa	p.G169E	PCDH11X_ENST00000406881.1_Missense_Mutation_p.G169E|PCDH11X_ENST00000373097.1_Missense_Mutation_p.G169E|PCDH11X_ENST00000395337.2_Missense_Mutation_p.G169E|PCDH11X_ENST00000361655.2_Missense_Mutation_p.G169E|PCDH11X_ENST00000361724.1_Missense_Mutation_p.G169E|PCDH11X_ENST00000373088.1_Missense_Mutation_p.G169E|PCDH11X_ENST00000298274.8_Missense_Mutation_p.G169E|PCDH11X_ENST00000504220.1_Missense_Mutation_p.G169E	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	169	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCTGACGTAGGAATAAACGGA	0.343000													25	2					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227953470	227953470	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:227953470G>A	ENST00000396625.3	-	22	1729	c.1522C>T	c.(1522-1524)Cct>Tct	p.P508S	COL4A4_ENST00000329662.7_Missense_Mutation_p.P508S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	508	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGCCTCCCAGGAAGTCCTGGA	0.587000													31	11					0	0	1	0	0
GAS2L1	10634	broad.mit.edu	37	22	29704557	29704557	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:29704557C>T	ENST00000471961.1	+	1	1510	c.462C>T	c.(460-462)gcC>gcT	p.A154A	GAS2L1_ENST00000407854.1_Silent_p.A154A|GAS2L1_ENST00000407647.2_Silent_p.A154A|GAS2L1_ENST00000403764.1_Silent_p.A154A|GAS2L1_ENST00000341313.6_Silent_p.A154A|GAS2L1_ENST00000360113.2_Silent_p.A154A|GAS2L1_ENST00000406549.3_Silent_p.A154A			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	154					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						GCCTGCTGGCCCCACGCCTCG	0.677000													8	15					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101817609	101817609	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:101817609C>T	ENST00000375001.3	+	34	3570	c.3147C>T	c.(3145-3147)ttC>ttT	p.F1049F		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1049	Nonhelical region 8 (NC8).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				ATGGCAGCTTCCTTATGTCTG	0.507000													26	38					0	0	1	0	0
SCLY	51540	broad.mit.edu	37	2	239003128	239003128	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:239003128C>T	ENST00000254663.6	+	10	1239	c.1097C>T	c.(1096-1098)aCc>aTc	p.T366I	SCLY_ENST00000422984.2_Missense_Mutation_p.T264I|SCLY_ENST00000555827.1_Missense_Mutation_p.T358I|SCLY_ENST00000429612.2_Missense_Mutation_p.T152I	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN	selenocysteine lyase	358					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)		CTTCCCAATACCTGTAACTTT	0.522000													11	95					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24188792	24188792	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:24188792G>A	ENST00000265769.4	+	12	1343	c.1233G>A	c.(1231-1233)ggG>ggA	p.G411G	ADAM28_ENST00000437154.2_Silent_p.G411G|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000540823.1_Silent_p.G178G|ADAM28_ENST00000397649.3_Silent_p.G158G|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	411	Disintegrin.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CAATTTGTGGGAACCAGTTGG	0.408000													20	29					0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444341	5444341	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:5444341G>A	ENST00000300778.4	+	1	1001	c.911G>A	c.(910-912)gGa>gAa	p.G304E	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCCAATGGGGAATGTTAAAT	0.418000													16	5					0	0	1	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217297462	217297462	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:217297462C>T	ENST00000357276.4	+	8	1686	c.1356C>T	c.(1354-1356)ggC>ggT	p.G452G	SMARCAL1_ENST00000358207.5_Silent_p.G452G|SMARCAL1_ENST00000479008.1_3'UTR	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	452	Helicase ATP-binding.				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)		CCAAAGGAGGCCGCCTGCTGC	0.602000									Schimke Immuno-Osseous Dysplasia				41	21					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107703396	107703396	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:107703396G>A	ENST00000388781.3	-	23	3188	c.3105C>T	c.(3103-3105)ccC>ccT	p.P1035P	LAMB4_ENST00000388780.3_Silent_p.P1035P|LAMB4_ENST00000205386.4_Silent_p.P1035P	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1035	Laminin EGF-like 11.				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						CCCCACCAGGGGGACACTCCA	0.532000													21	40					0	0	1	0	0
LRRC47	57470	broad.mit.edu	37	1	3703748	3703748	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:3703748C>T	ENST00000378251.1	-	2	769	c.742G>A	c.(742-744)Ggc>Agc	p.G248S		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	248					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GTCTGGCAGCCGCTGACCATC	0.637000													3	79					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124333348	124333348	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:124333348C>T	ENST00000409039.3	+	33	5692	c.5667C>T	c.(5665-5667)atC>atT	p.I1889I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1889	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTAATCGAATCGATGCTTCTG	0.532000													7	12					0	0	1	0	0
C17orf70	80233	broad.mit.edu	37	17	79517678	79517678	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:79517678G>A	ENST00000537152.1	-	3	914	c.389C>T	c.(388-390)cCc>cTc	p.P130L	C17orf70_ENST00000327787.8_Missense_Mutation_p.P281L	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	281					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GAAGATGACGGGCTCCTCCAG	0.587000													44	3					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8698409	8698409	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:8698409G>T	ENST00000378641.3	+	14	1902	c.1427G>T	c.(1426-1428)gGa>gTa	p.G476V	PLCB1_ENST00000338037.6_Missense_Mutation_p.G476V|PLCB1_ENST00000378637.2_Missense_Mutation_p.G476V|PLCB1_ENST00000494924.1_3'UTR	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	476					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TCATCAGAAGGAAGCGGCAAA	0.463000													9	51					7.48243e-07	7.57642e-07	1	1	0
SYNPR	132204	broad.mit.edu	37	3	63601104	63601104	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:63601104G>A	ENST00000478300.1	+	6	1216	c.805G>A	c.(805-807)Gat>Aat	p.D269N	SYNPR_ENST00000479198.1_3'UTR|SYNPR_ENST00000295894.5_Missense_Mutation_p.D249N|SYNPR_ENST00000465156.1_Missense_Mutation_p.D185N|SYNPR_ENST00000460711.1_Missense_Mutation_p.D260N	NM_001130003.1	NP_001123475.1	Q8TBG9	SYNPR_HUMAN	synaptoporin	249						cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		GCCAACCTCAGATGAGTTTGG	0.493000													15	3					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	62023728	62023728	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:62023728G>A	ENST00000280772.1	-	6	755	c.564C>T	c.(562-564)gtC>gtT	p.V188V	ANK3_ENST00000373827.2_Silent_p.V182V|ANK3_ENST00000503366.1_Silent_p.V171V	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	188					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGAGCGAAACGACTTGGTCGT	0.507000													9	21					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027156	37027156	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:37027156C>G	ENST00000358047.3	+	1	725	c.673C>G	c.(673-675)Cag>Gag	p.Q225E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	225										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						TCTCCGCCCACAGCCTCCCAA	0.647000													4	44					0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52067877	52067877	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:52067877C>T	ENST00000361781.2	-	10	1886	c.927G>A	c.(925-927)tgG>tgA	p.W309*	SGMS1_ENST00000429490.1_Nonsense_Mutation_p.W140*	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	315					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GCCAGCAAATCCAGTGATACC	0.483000													17	28					0	0	1	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654498	31654498	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr21:31654498C>T	ENST00000340345.4	-	1	778	c.753G>A	c.(751-753)ctG>ctA	p.L251L		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	251	6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK].					keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						AATAGCATTTCAGAGGTCTGC	0.428000													8	77					0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42116019	42116019	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:42116019C>T	ENST00000457542.2	+	29	4259	c.3973C>T	c.(3973-3975)Ccg>Tcg	p.P1325S	MAPKBP1_ENST00000260357.7_Missense_Mutation_p.P1164S|MAPKBP1_ENST00000514566.1_Intron|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.P1331S|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.P1208S	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1331										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GCCTGGCTTCCCGGTGGGCCT	0.617000													59	6					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33581441	33581441	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:33581441G>A	ENST00000321505.4	+	6	3291	c.3111G>A	c.(3109-3111)ccG>ccA	p.P1037P	KIAA1549L_ENST00000265654.5_Silent_p.P1043P|KIAA1549L_ENST00000389726.3_Silent_p.P1043P					KIAA1549-like																		CCTATCCGCCGCTAACCATTG	0.567000													4	217					0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48414000	48414000	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:48414000C>G	ENST00000249598.1	-	2	1027	c.868G>C	c.(868-870)Gac>Cac	p.D290H		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	290					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GTGGAGCCGTCCTTGGACAGC	0.612000													13	26					0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92459677	92459677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:92459677C>T	ENST00000318445.6	+	2	849	c.635C>T	c.(634-636)tCg>tTg	p.S212L	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.S212L	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	212					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			AAGGACTCCTCGCTCTATATA	0.587000													10	3					0	0	1	0	0
ZNF793	390927	broad.mit.edu	37	19	38024238	38024238	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:38024238C>T	ENST00000445217.1	+	3	206	c.171C>T	c.(169-171)atC>atT	p.I57I	ZNF793_ENST00000587143.1_Silent_p.I57I|ZNF793_ENST00000542455.1_Silent_p.I57I|ZNF793_ENST00000589319.1_Silent_p.I57I|ZNF793_ENST00000588578.1_Silent_p.I57I|ZNF793_ENST00000587986.1_Silent_p.I57I			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	57	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGATGTGATCCTCAGACTGG	0.527000													54	54					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137756403	137756403	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:137756403T>G	ENST00000314358.5	+	15	3924	c.3724T>G	c.(3724-3726)Tcc>Gcc	p.S1242A	KDM3B_ENST00000542866.1_Missense_Mutation_p.S274A|KDM3B_ENST00000394866.1_Missense_Mutation_p.S898A|KDM3B_ENST00000508386.1_3'UTR	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1242					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(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AGAAGCAGGGTCCCTGAGGTC	0.458000													53	10					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154667733	154667733	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:154667733C>T	ENST00000404039.1	+	20	2396	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F	DPP6_ENST00000332007.3_Silent_p.F605F|DPP6_ENST00000427557.1_Silent_p.F560F|DPP6_ENST00000377770.3_Silent_p.F667F	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	667					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)			GCAGCGGCTTCCAAGGGACCA	0.657000													12	7					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130832760	130832760	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:130832760C>T	ENST00000357462.5	-	15	2378	c.2285G>A	c.(2284-2286)aGa>aAa	p.R762K	POTEF_ENST00000409914.2_Missense_Mutation_p.R762K			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	762	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CAGGATGCCTCTTTTGCTCTG	0.577000													99	26					0	0	1	0	0
SNORD113-9	767569	broad.mit.edu	37	14	101412008	101412008	+	RNA	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:101412008G>A	ENST00000365080.1	+	0	23					NR_003237.1																						GAGTACCCTGGGGTGTCTGAA	0.338000													33	9					0	0	1	0	0
IL1R2	7850	broad.mit.edu	37	2	102641101	102641101	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:102641101G>A	ENST00000332549.3	+	7	1087	c.858G>A	c.(856-858)ccG>ccA	p.P286P	IL1R2_ENST00000393414.2_Silent_p.P286P|IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000441002.1_Silent_p.P286P	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	286	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	GCGCCTACCCGGGAGGCCGCG	0.572000													3	40					0	0	1	0	0
MAB21L3	126868	broad.mit.edu	37	1	116675774	116675774	+	Missense_Mutation	SNP	G	G	A	rs150571972		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:116675774G>A	ENST00000369500.3	+	7	1142	c.877G>A	c.(877-879)Gag>Aag	p.E293K		NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	293										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						TTGGACCTGCGAGAAATATCC	0.478000													11	25					0	0	1	0	0
SLC10A3	8273	broad.mit.edu	37	X	153716816	153716816	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:153716816G>A	ENST00000263512.4	-	2	962	c.464C>T	c.(463-465)gCc>gTc	p.A155V	SLC10A3_ENST00000393586.1_Missense_Mutation_p.A210V|SLC10A3_ENST00000369649.4_Missense_Mutation_p.A126V|SLC10A3_ENST00000393587.4_Missense_Mutation_p.A155V	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	155					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	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)					TGTGGGCGGGGCCTCATGGGC	0.647000													49	13					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134648171	134648171	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:134648171G>A	ENST00000368586.5	-	48	6953	c.6853C>T	c.(6853-6855)Ctc>Ttc	p.L2285F	TTC40_ENST00000263170.5_Missense_Mutation_p.L446F	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	446										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GCCTTGGAGAGGCTGAGCAGG	0.642000													13	13					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751628	19751628	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:19751628G>A	ENST00000400113.3	-	4	599	c.495C>T	c.(493-495)tcC>tcT	p.S165S		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	165					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ATTCTAGCTTGGACTTCTTGC	0.577000													45	126					0	0	1	0	0
ALDH3A1	218	broad.mit.edu	37	17	19648365	19648365	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:19648365C>T	ENST00000457500.2	-	1	407	c.78G>A	c.(76-78)cgG>cgA	p.R26R	ALDH3A1_ENST00000225740.6_Silent_p.R26R|ALDH3A1_ENST00000395555.3_Silent_p.R26R|ALDH3A1_ENST00000494157.2_Intron|ALDH3A1_ENST00000444455.1_Silent_p.R26R|ALDH3A1_ENST00000485231.1_Intron	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	26					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	GCTGCTGGATCCGGAACTGCA	0.706000													9	1					0	0	1	0	0
PLA2G16	11145	broad.mit.edu	37	11	63357818	63357818	+	Silent	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:63357818T>C	ENST00000323646.5	-	3	495	c.141A>G	c.(139-141)gcA>gcG	p.A47A	PLA2G16_ENST00000394613.3_5'UTR|PLA2G16_ENST00000415826.1_Silent_p.A47A	NM_007069.3	NP_009000.2	P53816	PAG16_HUMAN	phospholipase A2, group XVI	47					lipid catabolic process	integral to membrane|perinuclear region of cytoplasm	hydrolase activity|protein binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5						TGACACTGGCTGCACCAGCTC	0.582000													12	29					0	0	1	0	0
TMEM110	375346	broad.mit.edu	37	3	52883814	52883814	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:52883814C>T	ENST00000355083.5	-	4	566	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.E141K	NM_198563.2	NP_940965.1			transmembrane protein 110											kidney(1)|large_intestine(1)|lung(2)	4				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		TTACCATATTCGCCGAAGCGC	0.627000													39	9					0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84526400	84526400	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:84526400C>T	ENST00000360700.4	+	10	2876	c.1990C>T	c.(1990-1992)Cct>Tct	p.P664S	ZNF711_ENST00000395402.1_Missense_Mutation_p.P626S|ZNF711_ENST00000373165.3_Missense_Mutation_p.P618S|ZNF711_ENST00000276123.3_Missense_Mutation_p.P618S|ZNF711_ENST00000542798.1_Missense_Mutation_p.P460S			Q9Y462	ZN711_HUMAN	zinc finger protein 711	618					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TAAGGATTTTCCTCACAAATG	0.423000													4	1					0	0	1	0	0
EVI5	7813	broad.mit.edu	37	1	93091480	93091480	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:93091480G>A	ENST00000370331.1	-	13	1500	c.1491C>T	c.(1489-1491)tcC>tcT	p.S497S	EVI5_ENST00000543509.1_Silent_p.S508S|EVI5_ENST00000540033.1_Silent_p.S497S|EVI5_ENST00000491940.1_5'UTR	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	497	Dimerization.|Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		CATCAGGAAGGGAGTTATTCC	0.343000													8	20					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140228279	140228279	+	Missense_Mutation	SNP	G	G	A	rs71588635		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:140228279G>A	ENST00000378122.3	+	1	923	c.199G>A	c.(199-201)Gat>Aat	p.D67N	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.D67N|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCCAGTTGGATTCCAAAGG	0.642000													145	23					0	0	1	0	0
FER1L5	90342	broad.mit.edu	37	2	97361546	97361546	+	RNA	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:97361546G>A	ENST00000457909.1	+	0	3465							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						TGGGCCTTCGGCCAGCAGACC	0.607000													8	15					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66461119	66461119	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:66461119C>G	ENST00000404260.3	+	29	6429	c.6121C>G	c.(6121-6123)Ccg>Gcg	p.P2041A	MAST4_ENST00000403666.1_Missense_Mutation_p.P1849A|MAST4_ENST00000405643.1_Missense_Mutation_p.P1859A|MAST4_ENST00000261569.7_Missense_Mutation_p.P1844A|MAST4_ENST00000403625.2_Missense_Mutation_p.P2038A			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2041						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGCATGGGCGCCGGGTGGGAA	0.557000													9	11					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201779106	201779106	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:201779106C>T	ENST00000367296.4	+	23	4854	c.4434C>T	c.(4432-4434)acC>acT	p.T1478T	NAV1_ENST00000295624.6_Silent_p.T1475T|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Silent_p.T1431T|NAV1_ENST00000367300.3_Silent_p.T1418T|NAV1_ENST00000367295.1_Silent_p.T1084T|NAV1_ENST00000367297.4_Silent_p.T1470T	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1478					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CAGCCTCTACCCTGGGACTAA	0.488000													26	78					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173756	126173756	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:126173756C>T	ENST00000339582.2	-	9	2488	c.1680G>A	c.(1678-1680)caG>caA	p.Q560Q	GRM8_ENST00000444921.2_Silent_p.Q560Q|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Silent_p.Q560Q			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	560					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGTTGGGTCTCTGATCCAGAG	0.527000										HNSCC(24;0.065)			32	107					0	0	1	0	0
XPO7	23039	broad.mit.edu	37	8	21846589	21846589	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:21846589C>T	ENST00000434536.1	+	16	1992	c.1890C>T	c.(1888-1890)tcC>tcT	p.S630S	XPO7_ENST00000252512.9_Silent_p.S621S|XPO7_ENST00000433566.4_Silent_p.S622S			Q9UIA9	XPO7_HUMAN	exportin 7	621					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		ATGACCTGTCCATTGGATATC	0.438000													11	20					0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28547322	28547322	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:28547322C>T	ENST00000357727.2	+	4	648	c.258C>T	c.(256-258)ttC>ttT	p.F86F	CREB5_ENST00000409603.1_Silent_p.F53F|CREB5_ENST00000396299.2_Silent_p.F53F|CREB5_ENST00000396300.2_Silent_p.F79F	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	86					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						AGCACGAGTTCAGGAAGGCTC	0.562000													79	68					0	0	1	0	0
ADAM8	101	broad.mit.edu	37	10	135087705	135087705	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:135087705C>T	ENST00000485491.2	-	2	131	c.81G>A	c.(79-81)tgG>tgA	p.W27*	ADAM8_ENST00000559180.1_5'UTR|ADAM8_ENST00000415217.3_Missense_Mutation_p.G62E|ADAM8_ENST00000445355.3_Missense_Mutation_p.G62E	NM_001164490.1	NP_001157962.1	B4DVM6	B4DVM6_HUMAN	ADAM metallopeptidase domain 8	27					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		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;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		CCCTGTGGCCCCAAGGACGTA	0.687000													19	30					0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7244122	7244122	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:7244122C>T	ENST00000542285.1	-	2	303	c.154G>A	c.(154-156)Gga>Aga	p.G52R				P00736	C1R_HUMAN	complement component 1, r subcomponent	53	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					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)	ACCCTGTATCCCGTGGGGACT	0.537000													5	8					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68950458	68950458	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:68950458C>T	ENST00000288368.4	+	7	1047	c.770C>T	c.(769-771)tCt>tTt	p.S257F	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	257	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AAAATTTCTTCTGGAAATATT	0.388000													7	19					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52524474	52524474	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:52524474C>T	ENST00000242839.4	-	10	2665	c.2509G>A	c.(2509-2511)Gga>Aga	p.G837R	ATP7B_ENST00000448424.2_Missense_Mutation_p.G759R|ATP7B_ENST00000418097.2_Missense_Mutation_p.G837R|ATP7B_ENST00000400366.3_Missense_Mutation_p.G726R|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000417240.2_Missense_Mutation_p.G109R|ATP7B_ENST00000344297.5_Missense_Mutation_p.G675R	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	837				G -> A (in Ref. 8; AAA16173).	ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GGAAACTTTCCCCCAGGGACC	0.547000									Wilson disease				13	60					0	0	1	0	0
FMNL3	91010	broad.mit.edu	37	12	50045894	50045894	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:50045894G>A	ENST00000335154.5	-	14	1658	c.1425C>T	c.(1423-1425)gtC>gtT	p.V475V	FMNL3_ENST00000293590.5_Silent_p.V475V|FMNL3_ENST00000550488.1_Silent_p.V475V|FMNL3_ENST00000352151.5_Silent_p.V424V	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	475					actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CCAGGCCCCGGACATTTGGCT	0.592000													5	6					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154315361	154315361	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:154315361C>T	ENST00000368489.3	+	15	1476	c.1476C>T	c.(1474-1476)atC>atT	p.I492I		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	478					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTGTCAAGATCGGGGACCCCC	0.542000													25	23					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89811436	89811436	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:89811436C>T	ENST00000389301.3	-	36	3587	c.3557G>A	c.(3556-3558)aGg>aAg	p.R1186K	FANCA_ENST00000568369.1_Missense_Mutation_p.R1186K	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1186					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GCAGTGTCTCCTCCACCGGCA	0.637000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	21					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1251274	1251274	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:1251274G>A	ENST00000447027.1	+	11	1327	c.1269G>A	c.(1267-1269)ccG>ccA	p.P423P	MUC5B_ENST00000529681.1_Silent_p.P420P			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	420					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)		AGGACCTGCCGTGCCCTGGCA	0.657000													21	23					0	0	1	0	0
HLTF	6596	broad.mit.edu	37	3	148792061	148792061	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:148792061C>T	ENST00000310053.5	-	4	663	c.470G>A	c.(469-471)aGa>aAa	p.R157K	HLTF_ENST00000392912.2_Missense_Mutation_p.R157K|HLTF_ENST00000494055.1_Missense_Mutation_p.R157K|HLTF_ENST00000465259.1_Missense_Mutation_p.R157K	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	157					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AACCGCTTTTCTATTTTCTTC	0.338000													21	23					0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15052767	15052767	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:15052767C>T	ENST00000248072.3	+	1	467	c.467C>T	c.(466-468)tCc>tTc	p.S156F		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					GTCATGGGTTCCTTGCTTGAG	0.522000													75	110					0	0	1	0	0
ZGPAT	84619	broad.mit.edu	37	20	62364624	62364624	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:62364624C>T	ENST00000328969.5	+	3	765	c.638C>T	c.(637-639)cCa>cTa	p.P213L	ZGPAT_ENST00000490623.1_3'UTR|ZGPAT_ENST00000369967.3_Missense_Mutation_p.P213L|ZGPAT_ENST00000355969.6_Missense_Mutation_p.P213L|ZGPAT_ENST00000448100.1_Missense_Mutation_p.P213L|ZGPAT_ENST00000357119.4_Missense_Mutation_p.P213L	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	213					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					TTCCAGGACCCAGACCTGAGC	0.677000													30	35					0	0	1	0	0
TIGD4	201798	broad.mit.edu	37	4	153691349	153691349	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:153691349G>A	ENST00000304337.2	-	2	1628	c.808C>T	c.(808-810)Cga>Tga	p.R270*		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	270	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	p.R270*(1)		breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					TCAAGCTTTCGCATCCATTGT	0.403000													33	87					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20649568	20649568	+	RNA	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:20649568C>T	ENST00000428453.1	-	0	2630																				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						TTCCTTCTTTCCCCATCCTGT	0.597000													83	160					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58589735	58589735	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:58589735G>A	ENST00000317147.5	-	20	2889	c.2557C>T	c.(2557-2559)Cag>Tag	p.Q853*	CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000441024.2_Nonsense_Mutation_p.Q853*|CNOT1_ENST00000569240.1_Nonsense_Mutation_p.Q848*	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	853					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TATATTCGCTGGAAATAGCTG	0.398000													18	70					0	0	1	0	0
ARID4B	51742	broad.mit.edu	37	1	235345322	235345322	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:235345322G>A	ENST00000264183.3	-	20	3409	c.2912C>T	c.(2911-2913)aCt>aTt	p.T971I	ARID4B_ENST00000349213.3_Missense_Mutation_p.T885I|ARID4B_ENST00000366603.2_Missense_Mutation_p.T971I	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	971					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	p.T971fs*3(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTCAGCCACAGTCTGCAGTGA	0.498000													135	12					0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	69972190	69972190	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:69972190G>A	ENST00000355303.5	+	10	1291	c.986G>A	c.(985-987)gGc>gAc	p.G329D	ANO1_ENST00000531349.1_Missense_Mutation_p.G64D|ANO1_ENST00000316296.5_Missense_Mutation_p.G301D|ANO1_ENST00000538023.1_Missense_Mutation_p.G329D|ANO1_ENST00000530676.1_Missense_Mutation_p.G213D|ANO1_ENST00000398543.2_Missense_Mutation_p.G213D	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	329					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						GAGAAGATCGGCCTGTACTTC	0.552000													45	108					0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48371067	48371067	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:48371067G>A	ENST00000395702.2	+	2	762	c.535G>A	c.(535-537)Gtc>Atc	p.V179I	ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Missense_Mutation_p.V72I			Q96MN9	ZN488_HUMAN	zinc finger protein 488	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						GCTAACCTCAGTCTTCCCTGC	0.562000													24	26					0	0	1	0	0
TRIM10	10107	broad.mit.edu	37	6	30124759	30124759	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:30124759G>A	ENST00000449742.2	-	5	927	c.852C>T	c.(850-852)ccC>ccT	p.P284P	TRIM10_ENST00000376704.3_Silent_p.P284P	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	284						cytoplasm	zinc ion binding			ovary(1)	1						GGGCCTGCTGGGGAAAGTCCC	0.597000													41	75					0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150698465	150698465	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:150698465C>T	ENST00000297494.3	+	11	1737	c.1380C>T	c.(1378-1380)ttC>ttT	p.F460F	NOS3_ENST00000484524.1_Silent_p.F460F|NOS3_ENST00000467517.1_Silent_p.F460F|NOS3_ENST00000461406.1_Silent_p.F254F	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	460	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CTCCTGTTTTCCATCAGGAGA	0.607000													57	51					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62871785	62871785	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:62871785G>A	ENST00000536311.1	+	23	3795	c.3431G>A	c.(3430-3432)aGg>aAg	p.R1144K	MYT1_ENST00000328439.1_Missense_Mutation_p.R1117K			Q01538	MYT1_HUMAN	myelin transcription factor 1	1117					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CAGGCTGTGAGGGGCATCCAG	0.602000													40	54					0	0	1	0	0
CFHR1	3078	broad.mit.edu	37	1	196797325	196797325	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:196797325G>A	ENST00000320493.5	+	4	644	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	CFHR1_ENST00000498248.1_3'UTR|CFHR1_ENST00000367424.3_Intron|CFHR2_ENST00000367421.3_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	186	Sushi 3.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GTTTGGGGATGAAGAAGTGAT	0.378000													42	109					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152529135	152529135	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:152529135G>A	ENST00000427231.2	-	37	4249	c.4047C>T	c.(4045-4047)ctC>ctT	p.L1349L	NEB_ENST00000604864.1_Silent_p.L1349L|NEB_ENST00000409198.1_Silent_p.L1349L|NEB_ENST00000172853.10_Silent_p.L1349L|NEB_ENST00000397345.3_Silent_p.L1349L|NEB_ENST00000603639.1_Silent_p.L1349L	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	1349					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GATCATCCTGGAGGCTTCTGA	0.438000													71	12					0	0	1	0	0
C3AR1	719	broad.mit.edu	37	12	8212549	8212549	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:8212549G>A	ENST00000307637.4	-	2	436	c.233C>T	c.(232-234)tCg>tTg	p.S78L		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	78					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		GTGAGCCAGCGAGAAGGGCAA	0.577000													11	10					0	0	1	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74876442	74876442	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:74876442C>T	ENST00000331628.3	-	2	253	c.6G>A	c.(4-6)gaG>gaA	p.E2E	SYNDIG1L_ENST00000554823.1_Silent_p.E2E	NM_001105579.1	NP_001099049.1	A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	2					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						CACTCAGACTCTCCATGGTTC	0.647000													11	20					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137676837	137676837	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:137676837G>A	ENST00000371817.3	+	30	2901	c.2487G>A	c.(2485-2487)ggG>ggA	p.G829G		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	829	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)		GCTTGCAGGGGGAGATCGGCC	0.637000													7	32					0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110735144	110735144	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:110735144C>T	ENST00000331565.4	+	8	1608	c.1123C>T	c.(1123-1125)Cta>Tta	p.L375L		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	375					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TGAGAAAATCCTAGGGTACCT	0.552000													16	72					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103400111	103400111	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:103400111C>T	ENST00000358392.2	-	46	3847	c.3528_splice	c.e46-1	p.G1177_splice	COL11A1_ENST00000370096.3_Splice_Site_p.G1165_splice|COL11A1_ENST00000512756.1_Splice_Site_p.G1049_splice|COL11A1_ENST00000353414.4_Splice_Site_p.G1126_splice	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1165	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCATCACCTCCCTAGAGAAG	0.433000													35	29					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103339354	103339354	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:103339354G>A	ENST00000375735.2	+	88	12830	c.12686G>A	c.(12685-12687)gGa>gAa	p.G4229E	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.G4236E|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.G842E	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4229					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGTTTTGATGGAAATCAACTT	0.388000													19	2					0	0	1	0	0
LRRC23	10233	broad.mit.edu	37	12	7021922	7021922	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:7021922C>T	ENST00000007969.8	+	7	1007	c.787C>T	c.(787-789)Ctg>Ttg	p.L263L	LRRC23_ENST00000443597.2_Silent_p.L263L|LRRC23_ENST00000436789.1_Intron|LRRC23_ENST00000429740.1_Intron|LRRC23_ENST00000323702.5_Intron	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	263										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						CCTGGGGGAGCTGGCCAAGCT	0.602000													3	94					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43524059	43524059	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr21:43524059G>A	ENST00000400427.1	+	9	1561	c.1165G>A	c.(1165-1167)Gga>Aga	p.G389R	C21orf128_ENST00000329015.2_Silent_p.S58S|UMODL1_ENST00000408989.2_Missense_Mutation_p.G461R|UMODL1_ENST00000400424.1_Missense_Mutation_p.G389R|UMODL1_ENST00000408910.2_Missense_Mutation_p.G461R	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	461	Fibronectin type-III 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TCTCCAGGCGGGAAGTGTGGT	0.602000													116	124					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156504330	156504330	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:156504330G>A	ENST00000361170.2	-	29	3713	c.3703C>T	c.(3703-3705)Ctg>Ttg	p.L1235L		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1235					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TAGTCATTCAGGACCCGTAGG	0.602000													25	4					0	0	1	0	0
APOC1	341	broad.mit.edu	37	19	45422430	45422430	+	Splice_Site	SNP	G	G	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:45422430G>T	ENST00000588750.1	+	5	520	c.194_splice	c.e5-1	p.R65_splice	APOC1_ENST00000589781.1_Splice_Site_p.G20_splice|APOC1_ENST00000588802.1_Splice_Site_p.R65_splice|APOC1_ENST00000252491.4_Splice_Site_p.R65_splice|APOC1_ENST00000586638.1_Splice_Site_p.G77_splice|APOC1_ENST00000592885.1_Splice_Site_p.G114_splice			P02654	APOC1_HUMAN	apolipoprotein C-I	65					cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of fatty acid biosynthetic process|negative regulation of lipoprotein lipase activity|negative regulation of phosphatidylcholine catabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of cholesterol esterification|very-low-density lipoprotein particle assembly|very-low-density lipoprotein particle clearance	chylomicron|endoplasmic reticulum|high-density lipoprotein particle|very-low-density lipoprotein particle	fatty acid binding|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipase inhibitor activity			cervix(1)|large_intestine(1)|lung(2)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		CTCCCCACAGGGAGTGGTTTT	0.522000													150	163					7.77156e-87	8.03744e-87	1	1	0
C1orf127	148345	broad.mit.edu	37	1	11007824	11007824	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:11007824G>A	ENST00000377004.4	-	12	2367	c.2368C>T	c.(2368-2370)Cag>Tag	p.Q790*	C1orf127_ENST00000377008.4_Nonsense_Mutation_p.Q623*	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	641										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		AGCTCCTGCTGGAGTGAGGCC	0.627000													8	20					0	0	1	0	0
MMP15	4324	broad.mit.edu	37	16	58073817	58073817	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:58073817C>T	ENST00000219271.3	+	4	1264	c.479C>T	c.(478-480)tCg>tTg	p.S160L		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	160					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						TGGTACCACTCGATGGAGGCG	0.647000													76	41					0	0	1	0	0
RTN4R	65078	broad.mit.edu	37	22	20230341	20230341	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:20230341G>A	ENST00000043402.7	-	2	753	c.315C>T	c.(313-315)gcC>gcT	p.A105A	RTN4R_ENST00000469601.1_5'UTR	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	105					axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					GCTCCAGGAGGGCCAGGCCAG	0.647000													16	83					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118242361	118242361	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:118242361C>T	ENST00000402510.2	-	6	850	c.851G>A	c.(850-852)gGa>gAa	p.G284E		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	284										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						AAGCACAGCTCCTGACATGGC	0.478000													66	10					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52422287	52422287	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:52422287C>T	ENST00000420323.2	+	57	9369	c.9108C>T	c.(9106-9108)atC>atT	p.I3036I		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3036	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCACCTCCATCTGCCAGTGGG	0.602000													4	14					0	0	1	0	0
GPSM2	29899	broad.mit.edu	37	1	109440582	109440582	+	Splice_Site	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:109440582T>C	ENST00000406462.1	+	6	1189	c.414_splice	c.e6-1	p.V139_splice	GPSM2_ENST00000264126.3_Splice_Site_p.V139_splice|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	139					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TTCATTTAGGTGGGAGAAGCA	0.378000													13	169					0	0	1	0	0
SGK3	23678	broad.mit.edu	37	8	67706033	67706033	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:67706033C>T	ENST00000396596.1	+	2	276	c.62C>T	c.(61-63)tCc>tTc	p.S21F	C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.S21F|SGK3_ENST00000520976.1_Missense_Mutation_p.S21F|SGK3_ENST00000345714.4_Missense_Mutation_p.S21F|SGK3_ENST00000521198.2_Missense_Mutation_p.S21F|C8orf44-SGK3_ENST00000520044.1_3'UTR|SGK3_ENST00000522398.1_Missense_Mutation_p.S21F	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	21	PX.				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)			ATTCCCAGCTCCGATGAACAC	0.383000													21	24					0	0	1	0	0
ANKRD13A	88455	broad.mit.edu	37	12	110451049	110451049	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:110451049C>A	ENST00000261739.4	+	3	515	c.349C>A	c.(349-351)Ctc>Atc	p.L117I	ANKRD13A_ENST00000550404.1_3'UTR	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	117										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						CCAAAAAATTCTCGAGGTATC	0.468000													23	29					1.7367e-05	1.74875e-05	1	1	0
PLXNA4	91584	broad.mit.edu	37	7	131865363	131865363	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:131865363G>A	ENST00000359827.3	-	19	4583	c.3621C>T	c.(3619-3621)atC>atT	p.I1207I	PLXNA4_ENST00000321063.4_Silent_p.I1207I			Q9HCM2	PLXA4_HUMAN	plexin A4	1207	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						TGTGCCTGCCGATGAGGTTGG	0.597000													52	55					0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20073953	20073953	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:20073953G>A	ENST00000351989.3	+	2	896	c.467G>A	c.(466-468)aGt>aAt	p.S156N	DGCR8_ENST00000383024.2_Missense_Mutation_p.S156N|DGCR8_ENST00000407755.1_Missense_Mutation_p.S156N	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	156	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGCCCTGTCAGTGGGGACGTG	0.587000													165	179					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75264455	75264455	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:75264455C>T	ENST00000325680.7	+	5	2579	c.2455C>T	c.(2455-2457)Caa>Taa	p.Q819*	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Nonsense_Mutation_p.Q624*	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	624	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GCCAGCATCTCAATTTTATAT	0.537000													27	5					0	0	1	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24892968	24892968	+	Missense_Mutation	SNP	G	G	A	rs149288885	byFrequency	TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:24892968G>A	ENST00000382071.2	+	3	264	c.179G>A	c.(178-180)cGt>cAt	p.R60H	C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.R60H			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	60	Collagen-like 1.					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)		GAACCAGGACGTCCTGGCAGC	0.478000													6	230					0	0	1	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103574811	103574811	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:103574811C>T	ENST00000380069.3	+	10	2009	c.1933C>T	c.(1933-1935)Cag>Tag	p.Q645*		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	645										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						AGATGACATCCAGCGGCACCT	0.607000													96	138					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887399	12887399	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:12887399C>T	ENST00000535591.1	-	3	653	c.458G>A	c.(457-459)cGc>cAc	p.R153H		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	153										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TCTGATATTGCGGAAGGGCAT	0.468000													81	313					0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20199241	20199241	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:20199241T>C	ENST00000400331.5	-	5	1051	c.743A>G	c.(742-744)gAg>gGg	p.E248G	MACC1_ENST00000589011.1_Missense_Mutation_p.E248G|MACC1_ENST00000332878.4_Missense_Mutation_p.E248G	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	248					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TAGAGACACCTCTTGGAATTC	0.473000													46	47					0	0	1	0	0
SPOPL	339745	broad.mit.edu	37	2	139308107	139308107	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:139308107C>T	ENST00000280098.4	+	3	512	c.133C>T	c.(133-135)Cga>Tga	p.R45*		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	45	MATH.		R -> Q (in dbSNP:rs36099753).			nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		CAGTTTTTGTCGAGAGGAAAT	0.303000													4	55					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57328876	57328876	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:57328876C>T	ENST00000326441.9	-	10	1297	c.934G>A	c.(934-936)Gga>Aga	p.G312R	ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G188R|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G186R|PEG3_ENST00000423103.2_Missense_Mutation_p.G312R|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	312					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ATTATCACTCCGTGGGAAGAT	0.463000													6	74					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84738857	84738857	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:84738857G>A	ENST00000372142.2	+	9	1175	c.901G>A	c.(901-903)Gat>Aat	p.D301N	NRG3_ENST00000404547.1_Missense_Mutation_p.D522N|NRG3_ENST00000556918.1_Missense_Mutation_p.D352N|NRG3_ENST00000537893.1_Missense_Mutation_p.D172N|NRG3_ENST00000404576.2_Missense_Mutation_p.D326N|NRG3_ENST00000545131.1_Missense_Mutation_p.D172N|NRG3_ENST00000372141.2_Missense_Mutation_p.D522N	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	522	EGF-like.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CCCAGACCAGGATACGATACC	0.478000													10	14					0	0	1	0	0
ADAM15	8751	broad.mit.edu	37	1	155029730	155029730	+	Silent	SNP	A	A	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:155029730A>C	ENST00000356955.2	+	12	1316	c.1215A>C	c.(1213-1215)ggA>ggC	p.G405G	ADAM15_ENST00000368410.2_Silent_p.G111G|ADAM15_ENST00000368412.3_Silent_p.G405G|ADAM15_ENST00000360674.4_Silent_p.G405G|ADAM15_ENST00000355956.2_Silent_p.G405G|ADAM15_ENST00000271836.6_Silent_p.G405G|ADAM15_ENST00000531455.1_Silent_p.G415G|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000447332.3_Silent_p.G389G|ADAM15_ENST00000368413.1_Silent_p.G111G|ADAM15_ENST00000449910.2_Silent_p.G405G|ADAM15_ENST00000359280.4_Silent_p.G405G	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	405	Peptidase M12B.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	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)			TCCTGGATGGAATGGGCAGCT	0.617000													36	29					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027200	37027200	+	Silent	SNP	A	A	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:37027200A>C	ENST00000358047.3	+	1	769	c.717A>C	c.(715-717)ccA>ccC	p.P239P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	239										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						TGGAGCCTCCAGAGACTGGAG	0.637000													3	46					0	0	1	0	0
H6PD	9563	broad.mit.edu	37	1	9305520	9305520	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:9305520T>A	ENST00000377403.2	+	2	829	c.527T>A	c.(526-528)tTt>tAt	p.F176Y	H6PD_ENST00000602477.1_Missense_Mutation_p.F187Y	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	176	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|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;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GAGAAACCCTTTGGCCATGAC	0.592000													65	43					0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16535154	16535154	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:16535154C>T	ENST00000270747.3	-	2	532	c.396G>A	c.(394-396)tcG>tcA	p.S132S	ARHGEF19_ENST00000421561.1_Silent_p.S132S	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	132					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		ACTTCTTCTCCGAGCCGTGGC	0.672000													10	24					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9090133	9090133	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:9090133G>A	ENST00000397910.4	-	1	1885	c.1682C>T	c.(1681-1683)tCt>tTt	p.S561F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	561	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						TGAGGGAACAGAAGTGGTGAT	0.522000													19	28					0	0	1	0	0
NACC2	138151	broad.mit.edu	37	9	138908222	138908222	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:138908222G>A	ENST00000371753.1	-	2	998	c.940C>T	c.(940-942)Cgc>Tgc	p.R314C	NACC2_ENST00000277554.2_Missense_Mutation_p.R314C|NACC2_ENST00000467669.1_5'UTR			Q96BF6	NACC2_HUMAN	NACC family member 2, BEN and BTB (POZ) domain containing	314					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization	nuclear body				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						AGGTCGCGGCGGATGAGGACG	0.662000													52	61					0	0	1	0	0
AMBP	259	broad.mit.edu	37	9	116824957	116824957	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:116824957C>T	ENST00000265132.3	-	7	947	c.685_splice	c.e7+1	p.D229_splice		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	229					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TGTTCATTACCTTCTTTCTTG	0.537000													30	50					0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52789550	52789550	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:52789550C>T	ENST00000257974.2	-	8	1391	c.1314G>A	c.(1312-1314)gtG>gtA	p.V438V	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	438	Tail.					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)		TACAGATATTCACGGGCCCGA	0.552000													13	17					0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7831586	7831586	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:7831586G>A	ENST00000327325.5	+	5	947	c.829G>A	c.(829-831)Gga>Aga	p.G277R	CLEC4M_ENST00000334806.5_Missense_Mutation_p.G226R|CLEC4M_ENST00000596707.1_Missense_Mutation_p.G210R|CLEC4M_ENST00000394122.2_Missense_Mutation_p.G265R|CLEC4M_ENST00000596363.1_Missense_Mutation_p.G249R|CLEC4M_ENST00000359059.5_Missense_Mutation_p.G210R|CLEC4M_ENST00000357361.2_Missense_Mutation_p.G277R|CLEC4M_ENST00000248228.4_Missense_Mutation_p.G255R|CLEC4M_ENST00000597522.1_Missense_Mutation_p.G185R|CLEC4M_ENST00000595496.1_Missense_Mutation_p.G141R	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	277	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						ATTCTTCCAAGGAAACTGTTA	0.557000													30	59					0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102743450	102743450	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:102743450C>T	ENST00000210633.3	+	14	2172	c.2094C>T	c.(2092-2094)tcC>tcT	p.S698S	MRPL43_ENST00000318325.2_Intron|SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000299179.5_Intron|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000342071.1_Intron|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000370250.4_Silent_p.S693S|MRPL43_ENST00000370241.3_Intron			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	693					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		TCCTGGCCTCCTCCCTCCTCT	0.647000													6	13					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104433261	104433261	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:104433261C>T	ENST00000361820.3	-	3	2033	c.1433G>A	c.(1432-1434)tGg>tAg	p.W478*		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	478					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CAAGCGGGTCCACATTGGCTT	0.498000													37	32					0	0	1	0	0
MAGEA11	4110	broad.mit.edu	37	X	148798152	148798152	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:148798152G>A	ENST00000355220.5	+	5	1108	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K	MAGEA11_ENST00000333104.4_Missense_Mutation_p.E307K	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	336	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGTTATGTGGGAAGTCCTGAG	0.512000													26	90					0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15537565	15537565	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr21:15537565C>T	ENST00000344577.2	-	6	968	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	LIPI_ENST00000536861.1_Missense_Mutation_p.E294K	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	294					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CATGATTTTTCCTTAAAACAG	0.318000													37	36					0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64520612	64520612	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:64520612G>A	ENST00000164139.3	-	12	1849	c.1451C>T	c.(1450-1452)aCc>aTc	p.T484I	PYGM_ENST00000377432.3_Missense_Mutation_p.T396I	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	484					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GATGCCGTTGGTCTTATTCTG	0.567000													99	205					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40061888	40061888	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:40061888C>T	ENST00000336649.4	+	26	3999	c.3999C>T	c.(3997-3999)ctC>ctT	p.L1333L	CACNA1I_ENST00000407673.1_Silent_p.L1292L|CACNA1I_ENST00000404898.1_Silent_p.L1292L|CACNA1I_ENST00000402142.3_Silent_p.L1327L|CACNA1I_ENST00000401624.1_Silent_p.L1327L|CACNA1I_ENST00000400164.3_Silent_p.L1292L			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1327					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)	TTCCCCAGCTCTTCAAGGGCA	0.572000													134	208					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98155083	98155083	+	Silent	SNP	C	C	T	rs151335014		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:98155083C>T	ENST00000357947.3	-	13	1812	c.1587G>A	c.(1585-1587)acG>acA	p.T529T	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	529	CUB 2.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.T529T(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CACTCTCTTCCGTGGGGCCAT	0.527000													31	42					0	0	1	0	0
TEF	7008	broad.mit.edu	37	22	41783607	41783607	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:41783607C>T	ENST00000266304.4	+	2	526	c.410C>T	c.(409-411)tCc>tTc	p.S137F	TEF_ENST00000406644.3_Missense_Mutation_p.S107F	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	137					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						GCCAGCTCTTCCACAGCATCC	0.612000													51	46					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121016408	121016408	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:121016408C>T	ENST00000392793.1	+	12	3959	c.3688C>T	c.(3688-3690)Cct>Tct	p.P1230S	TECTA_ENST00000478058.1_3'UTR|TECTA_ENST00000264037.2_Missense_Mutation_p.P1230S			O75443	TECTA_HUMAN	tectorin alpha	1230	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CATCACAGTCCCTCGGAGCAT	0.507000													20	7					0	0	1	0	0
GAS2L1	10634	broad.mit.edu	37	22	29704556	29704556	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:29704556C>T	ENST00000471961.1	+	1	1509	c.461C>T	c.(460-462)gCc>gTc	p.A154V	GAS2L1_ENST00000407854.1_Missense_Mutation_p.A154V|GAS2L1_ENST00000407647.2_Missense_Mutation_p.A154V|GAS2L1_ENST00000403764.1_Missense_Mutation_p.A154V|GAS2L1_ENST00000341313.6_Missense_Mutation_p.A154V|GAS2L1_ENST00000360113.2_Missense_Mutation_p.A154V|GAS2L1_ENST00000406549.3_Missense_Mutation_p.A154V			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	154					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						GGCCTGCTGGCCCCACGCCTC	0.672000													8	15					0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39436032	39436032	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:39436032G>A	ENST00000257408.4	+	2	1125	c.1028G>A	c.(1027-1029)gGg>gAg	p.G343E		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	343	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						TATCCAGAGGGGATGAGAAAG	0.453000													31	53					0	0	1	0	0
PEX11B	8799	broad.mit.edu	37	1	145522864	145522864	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:145522864C>T	ENST00000369306.3	+	4	874	c.725C>T	c.(724-726)tCc>tTc	p.S242F	PEX11B_ENST00000537888.1_Missense_Mutation_p.S228F	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	242	Interaction with PEX19 and peroxisome targeting.				peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGCCTCGTGTCCTCCATCCTG	0.542000													62	52					0	0	1	0	0
ALKBH3	221120	broad.mit.edu	37	11	43918749	43918749	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:43918749C>T	ENST00000378840.4	+	7	777	c.372C>T	c.(370-372)tcC>tcT	p.S124S	ALKBH3_ENST00000532410.1_Intron|ALKBH3_ENST00000302708.4_Intron			Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	125					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	tttcagattccatattgcaac	0.458000								Direct reversal of damage					8	9					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46792594	46792594	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:46792594C>T	ENST00000262738.3	-	13	5750	c.5751G>A	c.(5749-5751)gaG>gaA	p.E1917E		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1917	EGF-like 6; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCCCCATGTTCTCGCAGGGGT	0.607000													13	17					0	0	1	0	0
GPR108	56927	broad.mit.edu	37	19	6736626	6736626	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:6736626C>T	ENST00000264080.7	-	2	243	c.217G>A	c.(217-219)Gag>Aag	p.E73K	GPR108_ENST00000430424.4_5'UTR	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	73						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TCTTCTGCCTCCCGGAGGCCC	0.622000											OREG0025202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	20					0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99445814	99445814	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:99445814G>A	ENST00000342499.4	+	4	395	c.45G>A	c.(43-45)tgG>tgA	p.W15*	CYP3A43_ENST00000312017.5_Missense_Mutation_p.G153E|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000354829.2_Missense_Mutation_p.G153E|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000222382.5_Missense_Mutation_p.G153E			Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	0					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	TCCCAATGTGGAGATATGTTG	0.473000													30	23					0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64485121	64485121	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:64485121C>T	ENST00000355086.3	+	12	2026	c.1502C>T	c.(1501-1503)aCt>aTt	p.T501I	RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Intron|SRGAP1_ENST00000357825.3_Intron	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	501					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CAGTATAATACTAAGTTGTTT	0.483000													21	33					0	0	1	0	0
SNAI3	333929	broad.mit.edu	37	16	88747685	88747685	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:88747685G>A	ENST00000332281.5	-	2	600	c.514C>T	c.(514-516)Cag>Tag	p.Q172*	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	172					oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		CAGTGCAGCTGCCGGTGCCTG	0.652000													77	38					0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4388870	4388870	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:4388870G>A	ENST00000408920.2	-	1	746	c.656C>T	c.(655-657)tCc>tTc	p.S219F		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGCATATAGGAAATAAAAAT	0.408000													3	10					0	0	1	0	0
ZC3H10	84872	broad.mit.edu	37	12	56515173	56515173	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:56515173G>A	ENST00000257940.2	+	3	1103	c.827G>A	c.(826-828)cGc>cAc	p.R276H	RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	276							nucleic acid binding|zinc ion binding			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			GCTCAGTTCCGCAATCAGGCC	0.537000													3	66					0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7751588	7751588	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:7751588G>A	ENST00000254846.5	+	11	2371	c.1982G>A	c.(1981-1983)gGg>gAg	p.G661E	KDM6B_ENST00000448097.2_Missense_Mutation_p.G661E	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	661	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCCGGGGTTGGGGAGCTGCCT	0.682000													52	9					0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102271687	102271687	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:102271687C>T	ENST00000370103.4	-	5	857	c.644G>A	c.(643-645)gGa>gAa	p.G215E	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.G235E	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	235						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AAATCGGGTTCCAGATGTCTT	0.423000													24	48					0	0	1	0	0
RGS11	8786	broad.mit.edu	37	16	320594	320594	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:320594C>T	ENST00000397770.3	-	15	1151	c.1134G>A	c.(1132-1134)ctG>ctA	p.L378L	ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000316163.5_Silent_p.L357L|RGS11_ENST00000359740.5_Silent_p.L367L			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	378	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GCAGCCCCTCCAGGGTCTGCT	0.652000													23	9					0	0	1	0	0
KIF2A	3796	broad.mit.edu	37	5	61673497	61673497	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:61673497G>A	ENST00000381103.2	+	19	2232	c.1747G>A	c.(1747-1749)Gtc>Atc	p.V583I	KIF2A_ENST00000401507.3_Missense_Mutation_p.V603I|KIF2A_ENST00000506857.1_Missense_Mutation_p.V557I|KIF2A_ENST00000407818.3_Missense_Mutation_p.V641I|KIF2A_ENST00000509663.2_Intron	NM_001243952.1	NP_001230881.1	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	603					blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		GGAAGAAGAAGTCTCTCCACA	0.284000													6	1					0	0	1	0	0
GET4	51608	broad.mit.edu	37	7	927101	927101	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:927101C>T	ENST00000407192.1	+	3	2769	c.252C>T	c.(250-252)tcC>tcT	p.S84S	GET4_ENST00000265857.3_Silent_p.S137S			Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	137					tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding			breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GTGGGGGCTCCGGGAAGCTGG	0.642000													32	49					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122002657	122002657	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:122002657T>C	ENST00000498619.1	+	7	2324	c.1886T>C	c.(1885-1887)tTt>tCt	p.F629S	CASR_ENST00000490131.1_Missense_Mutation_p.F619S|CASR_ENST00000296154.5_Missense_Mutation_p.F619S	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	619					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTCACCCTCTTTGCCGTGCTG	0.542000													40	50					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48698213	48698213	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:48698213G>A	ENST00000544264.1	-	1	2135	c.1855C>T	c.(1855-1857)Cgc>Tgc	p.R619C	CELSR3_ENST00000164024.4_Missense_Mutation_p.R619C			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	619	Cadherin 3.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCCCTGATGCGCAAGGCATAC	0.587000													8	22					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20648723	20648723	+	Missense_Mutation	SNP	C	C	T	rs142566677		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:20648723C>T	ENST00000219151.4	-	8	1234	c.24G>A	c.(22-24)atG>atA	p.M8I	ACSM1_ENST00000520010.1_Missense_Mutation_p.M389I|ACSM1_ENST00000307493.4_Missense_Mutation_p.M389I			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	389					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TGGCCTTCCCCATGAAACCCG	0.537000													18	59					0	0	1	0	0
PLOD1	5351	broad.mit.edu	37	1	12027068	12027068	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:12027068C>T	ENST00000196061.4	+	16	1702	c.1675C>T	c.(1675-1677)Ccc>Tcc	p.P559S	PLOD1_ENST00000376369.3_Missense_Mutation_p.P606S	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	559					epidermis development|hydroxylysine biosynthetic process|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 homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	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)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTATTGGTTCCCCATCTTCAC	0.607000													85	83					0	0	1	0	0
SYTL4	94121	broad.mit.edu	37	X	99956510	99956510	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:99956510G>A	ENST00000372981.1	-	3	456	c.270C>T	c.(268-270)gaC>gaT	p.D90D	SYTL4_ENST00000455616.1_Silent_p.D90D|SYTL4_ENST00000454200.2_Silent_p.D90D|SYTL4_ENST00000372989.1_Silent_p.D90D|SYTL4_ENST00000263033.5_Silent_p.D90D|SYTL4_ENST00000276141.6_Silent_p.D90D			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	90	RabBD.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTATGCGGCAGTCCCGACACA	0.572000													16	76					0	0	1	0	0
DERA	51071	broad.mit.edu	37	12	16109925	16109925	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:16109925G>A	ENST00000428559.2	+	2	299	c.87G>A	c.(85-87)gcG>gcA	p.A29A	DERA_ENST00000532964.1_Silent_p.A29A|DERA_ENST00000526530.1_5'UTR	NM_015954.2	NP_057038.2	Q9Y315	DEOC_HUMAN	deoxyribose-phosphate aldolase (putative)	29					deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process	cytoplasm	deoxyribose-phosphate aldolase activity|protein binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		Hepatocellular(102;0.121)				TGAGGCGTGCGGAACAAATCC	0.443000													6	41					0	0	1	0	0
FRMD3	257019	broad.mit.edu	37	9	85862874	85862874	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:85862874C>T	ENST00000304195.3	-	14	1959	c.1753G>A	c.(1753-1755)Ggg>Agg	p.G585R	FRMD3_ENST00000328788.1_Intron|FRMD3_ENST00000376438.1_Intron|FRMD3_ENST00000376434.1_Intron	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	585						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TGGACTTTCCCAGCCACCCAC	0.453000													103	130					0	0	1	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45241179	45241179	+	Silent	SNP	C	C	T	rs147582478	byFrequency	TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:45241179C>T	ENST00000352766.7	+	13	1257	c.1257C>T	c.(1255-1257)atC>atT	p.I419I	ARHGAP8_ENST00000336963.4_Silent_p.I209I|ARHGAP8_ENST00000389773.5_Silent_p.I331I|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.I340I|ARHGAP8_ENST00000517296.3_Silent_p.I419I|ARHGAP8_ENST00000389774.2_Silent_p.I240I|ARHGAP8_ENST00000356099.6_Silent_p.I209I														p.P242fs*3(1)|p.P247fs*3(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						GCGAACTCATCCCCCCTGTGC	0.532000													62	62					0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113684069	113684069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:113684069C>T	ENST00000295878.3	-	17	2890	c.2744G>A	c.(2743-2745)aGg>aAg	p.R915K		NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	915										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CTCGTGGTACCTTCCAGGTAC	0.403000													25	55					0	0	1	0	0
MFSD1	64747	broad.mit.edu	37	3	158539796	158539796	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:158539796C>T	ENST00000415822.2	+	11	1232	c.1091C>T	c.(1090-1092)cCc>cTc	p.P364L	MFSD1_ENST00000392813.4_Missense_Mutation_p.P325L|MFSD1_ENST00000264266.8_Missense_Mutation_p.P315L	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	315					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATATCAGCTCCCATGTCCCCG	0.443000													29	37					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56321526	56321526	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:56321526G>A	ENST00000443188.1	-	5	1160	c.450C>T	c.(448-450)ttC>ttT	p.F150F	NLRP11_ENST00000592953.1_Silent_p.F51F|NLRP11_ENST00000589824.2_Silent_p.F150F|NLRP11_ENST00000589093.1_Silent_p.F150F|NLRP11_ENST00000360133.3_Silent_p.F150F	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	150	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CTCCCATCAGGAACACATTGA	0.393000													5	32					0	0	1	0	0
ZFP3	124961	broad.mit.edu	37	17	4995165	4995165	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:4995165C>T	ENST00000318833.3	+	2	702	c.366C>T	c.(364-366)ttC>ttT	p.F122F		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						GCCAAAACTTCCTAGAGATTT	0.433000													11	35					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857546	9857546	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:9857546C>T	ENST00000396573.2	-	14	4164	c.3855G>A	c.(3853-3855)agG>agA	p.R1285R	GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000330684.3_Silent_p.R1285R|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000396575.2_Silent_p.R1285R	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1285					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GACGGCTAATCCTTAGCTTGT	0.532000													28	52					0	0	1	0	0
PVRL2	5819	broad.mit.edu	37	19	45389394	45389394	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:45389394C>T	ENST00000252483.5	+	8	1265	c.1265C>T	c.(1264-1266)tCc>tTc	p.S422F	CTB-129P6.4_ENST00000585408.1_RNA	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	422					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CTACAGCCCTCCCAGCTCTTC	0.662000													17	27					0	0	1	0	0
NAIF1	203245	broad.mit.edu	37	9	130825874	130825874	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:130825874G>A	ENST00000373078.4	-	2	1036	c.817C>T	c.(817-819)Cag>Tag	p.Q273*	NAIF1_ENST00000488519.1_5'UTR	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	273					apoptosis|induction of apoptosis	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCCATGGCCTGGGCCTGGCGC	0.612000													18	24					0	0	1	0	0
NOP14	8602	broad.mit.edu	37	4	2943344	2943344	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:2943344G>A	ENST00000416614.2	-	15	2229	c.2164C>T	c.(2164-2166)Cac>Tac	p.H722Y	NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000398071.4_Missense_Mutation_p.H722Y|NOP14-AS1_ENST00000507702.1_RNA|NOP14_ENST00000502735.1_Missense_Mutation_p.H722Y|NOP14-AS1_ENST00000512712.2_RNA|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000314262.6_Missense_Mutation_p.H722Y|NOP14_ENST00000507120.1_5'UTR			P78316	NOP14_HUMAN	NOP14 nucleolar protein	722					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TCCGCCAGGTGATCCGTGAGG	0.672000													8	17					0	0	1	0	0
CLEC4D	338339	broad.mit.edu	37	12	8671757	8671757	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:8671757G>A	ENST00000299665.2	+	4	577		c.e4+1			NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D						innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					AGCTGAGCAGGTGTGTTGGGA	0.473000													13	32					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190423889	190423889	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:190423889G>A	ENST00000534846.1	-	2	214	c.17C>T	c.(16-18)tCg>tTg	p.S6L	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000367462.3_Silent_p.F44F			Q76B58	FAM5C_HUMAN		0						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)					GGAGCCAGTCGAAGGGGCTTG	0.498000													28	28					0	0	1	0	0
TLE3	7090	broad.mit.edu	37	15	70346850	70346850	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:70346850C>T	ENST00000558939.1	-	16	3139	c.1762G>A	c.(1762-1764)Gcc>Acc	p.A588T	TLE3_ENST00000539550.1_Missense_Mutation_p.A515T|TLE3_ENST00000557997.1_Missense_Mutation_p.A580T|TLE3_ENST00000559929.1_Missense_Mutation_p.A598T|TLE3_ENST00000317509.8_Missense_Mutation_p.A576T|TLE3_ENST00000559191.1_Missense_Mutation_p.A169T|TLE3_ENST00000558201.1_Missense_Mutation_p.A594T|TLE3_ENST00000557907.1_Missense_Mutation_p.A580T|TLE3_ENST00000559048.1_Missense_Mutation_p.A588T|TLE3_ENST00000451782.2_Missense_Mutation_p.A585T|TLE3_ENST00000440567.3_Missense_Mutation_p.A578T|TLE3_ENST00000560939.1_Missense_Mutation_p.A590T|TLE3_ENST00000442299.2_Missense_Mutation_p.A580T|TLE3_ENST00000558379.1_Missense_Mutation_p.A583T|TLE3_ENST00000560589.1_Missense_Mutation_p.A532T			Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	588					organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CAGACTTTGGCGTCAGGGCTA	0.637000													3	51					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161020597	161020597	+	Silent	SNP	A	A	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:161020597A>G	ENST00000447678.1	-	21	3342	c.3222T>C	c.(3220-3222)acT>acC	p.T1074T	LPA_ENST00000316300.5_Silent_p.T1074T	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3582	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AAGCTTGGCAAGTTCTTCCTG	0.498000													4	319					0	0	1	0	0
ABCB9	23457	broad.mit.edu	37	12	123433228	123433228	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:123433228G>A	ENST00000542678.1	-	5	3834	c.996C>T	c.(994-996)acC>acT	p.T332T	ABCB9_ENST00000442833.2_Silent_p.T332T|ABCB9_ENST00000280560.8_Silent_p.T332T|ABCB9_ENST00000442028.2_Silent_p.T332T|ABCB9_ENST00000344275.7_Silent_p.T332T|ABCB9_ENST00000346530.5_Silent_p.T332T|ABCB9_ENST00000392439.3_Silent_p.T332T|ABCB9_ENST00000540285.1_Silent_p.T332T			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	332	ABC transmembrane type-1.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		AGCCCATGAAGGTGACCAAGG	0.557000													21	26					0	0	1	0	0
KRT16P6	353194	broad.mit.edu	37	17	16725634	16725634	+	RNA	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:16725634G>A	ENST00000417510.1	-	0	259																											TCCCCCAGAGGAGAAGCAGGA	0.677000													4	5					0	0	1	0	0
C16orf71	146562	broad.mit.edu	37	16	4797541	4797541	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:4797541C>T	ENST00000299320.5	+	9	1956	c.1478C>T	c.(1477-1479)cCa>cTa	p.P493L	C16orf71_ENST00000590191.1_Missense_Mutation_p.P510L|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	493										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						GCTCGACTCCCAAGAGGCAGG	0.637000													12	11					0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64676500	64676500	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:64676500G>A	ENST00000421419.2	-	16	2441	c.2327C>T	c.(2326-2328)cCc>cTc	p.P776L	ATG2A_ENST00000377264.3_Missense_Mutation_p.P776L			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	776							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						AGAGGAGAAGGGCGAGGGCTC	0.642000													11	5					0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29737602	29737602	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:29737602C>T	ENST00000357586.2	-	13	1870	c.1684G>A	c.(1684-1686)Gag>Aag	p.E562K	AP1B1_ENST00000415447.1_Missense_Mutation_p.E562K|AP1B1_ENST00000432560.2_Missense_Mutation_p.E562K|AP1B1_ENST00000405198.1_Missense_Mutation_p.E562K|AP1B1_ENST00000356015.2_Missense_Mutation_p.E562K|AP1B1_ENST00000402502.1_Missense_Mutation_p.E562K|AP1B1_ENST00000317368.7_Missense_Mutation_p.E562K	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	562					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CAGATAAGCTCGTCTAACAGT	0.617000													19	147					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179650595	179650595	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:179650595C>T	ENST00000589042.1	-	14	2574	c.2350G>A	c.(2350-2352)Gga>Aga	p.G784R	TTN_ENST00000360870.5_Missense_Mutation_p.G784R|TTN_ENST00000342992.6_Missense_Mutation_p.G784R|TTN_ENST00000359218.5_Missense_Mutation_p.G738R|TTN_ENST00000460472.2_Missense_Mutation_p.G738R|TTN_ENST00000342175.6_Missense_Mutation_p.G738R|TTN_ENST00000591111.1_Missense_Mutation_p.G784R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	784							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G784R(3)|p.G738R(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGTGCATTCCCTTTTGATCA	0.463000													17	27					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226446942	226446942	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:226446942A>C	ENST00000272907.6	+	4	1222	c.809A>C	c.(808-810)gAa>gCa	p.E270A	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	270																	GTCTACGAGGAAATGAAGTAC	0.552000													79	13					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72830075	72830075	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:72830075G>A	ENST00000268489.5	-	9	7178	c.6506C>T	c.(6505-6507)tCc>tTc	p.S2169F	ZFHX3_ENST00000397992.5_Missense_Mutation_p.S1255F	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2169					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTCACTGGGGGAGTTGTTAAT	0.502000													53	45					0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20628605	20628605	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:20628605C>T	ENST00000525748.1	+	4	1005	c.732C>T	c.(730-732)atC>atT	p.I244I		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	244					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GATTACCCATCTTCTTCTTGG	0.572000													21	58					0	0	1	0	0
TGM1	7051	broad.mit.edu	37	14	24718553	24718553	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:24718553T>C	ENST00000206765.6	-	15	2543	c.2420A>G	c.(2419-2421)gAg>gGg	p.E807G	TGM1_ENST00000544573.1_Missense_Mutation_p.E365G	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	807					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)	AGGGATGGTCTCTCCTAAGTG	0.602000													54	7					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091598	9091598	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:9091598C>T	ENST00000397910.4	-	1	420	c.217G>A	c.(217-219)Gga>Aga	p.G73R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	73	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						GTGGTTCTTCCCACAACCGAA	0.522000													34	56					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262173	45262173	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:45262173G>A	ENST00000303230.4	-	8	2580	c.2523C>T	c.(2521-2523)ctC>ctT	p.L841L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	841				L -> F (in Ref. 2; AAC39759).		integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			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						TCTGTCGGAAGAGGGTGACGC	0.667000													6	41					0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42788431	42788431	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:42788431G>A	ENST00000372980.3	-	2	1868	c.996C>T	c.(994-996)ccC>ccT	p.P332P		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	332					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGTGGCCGTCGGGCAGCGTGG	0.662000													37	48					0	0	1	0	0
CCSER2	54462	broad.mit.edu	37	10	86131537	86131537	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:86131537C>T	ENST00000224756.8	+	2	914	c.729C>T	c.(727-729)tcC>tcT	p.S243S	CCSER2_ENST00000372088.2_Silent_p.S243S|CCSER2_ENST00000359979.4_Silent_p.S243S	NM_018999.2	NP_061872.2			coiled-coil serine-rich protein 2																		GATCACATTCCTTTAATAGAG	0.378000													10	23					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73723752	73723752	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:73723752C>T	ENST00000200181.3	+	5	472	c.285C>T	c.(283-285)acC>acT	p.T95T	ITGB4_ENST00000450894.3_Silent_p.T95T|ITGB4_ENST00000449880.2_Silent_p.T95T|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Silent_p.T95T|ITGB4_ENST00000339591.3_Silent_p.T95T	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	95					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGACACCACCCTGCGGCGCA	0.682000													11	3					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6690229	6690229	+	Silent	SNP	A	A	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:6690229A>G	ENST00000309577.6	-	32	5137	c.4974T>C	c.(4972-4974)ccT>ccC	p.P1658P	CHD4_ENST00000544484.1_Silent_p.P1655P|CHD4_ENST00000357008.2_Silent_p.P1630P|CHD4_ENST00000544040.1_Silent_p.P1623P|RP5-940J5.6_ENST00000501075.2_RNA			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1630	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CTGTCTCCATAGGTTCCTCTG	0.512000													3	176					0	0	1	0	0
ZNF569	148266	broad.mit.edu	37	19	37917218	37917218	+	Silent	SNP	A	A	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:37917218A>G	ENST00000316950.6	-	4	635	c.78T>C	c.(76-78)gaT>gaC	p.D26D	ZNF569_ENST00000589833.1_Silent_p.D50D|ZNF569_ENST00000392149.2_Silent_p.D26D|ZNF569_ENST00000392150.2_Intron|ZNF569_ENST00000592490.1_Intron	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	26	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTGAGCAGGATCCAATCTCT	0.393000													33	40					0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100154844	100154844	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:100154844C>T	ENST00000263174.4	+	7	1403	c.1028C>T	c.(1027-1029)cCg>cTg	p.P343L	PALMD_ENST00000605497.1_Missense_Mutation_p.P343L	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	343					regulation of cell shape	cytoplasm|membrane		p.P343L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		CTTCACACCCCGCAAAAAAGG	0.488000													17	26					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117175431	117175431	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:117175431C>T	ENST00000003084.6	+	6	841	c.709C>T	c.(709-711)Cag>Tag	p.Q237*	CFTR_ENST00000454343.1_Nonsense_Mutation_p.Q237*	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	237	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGCCCTTTTTCAGGCTGGGCT	0.433000									Cystic Fibrosis				27	23					0	0	1	0	0
RSL24D1	51187	broad.mit.edu	37	15	55475591	55475591	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:55475591T>C	ENST00000260443.4	-	5	516	c.340A>G	c.(340-342)Aaa>Gaa	p.K114E		NM_016304.2	NP_057388.1	Q9UHA3	RLP24_HUMAN	ribosomal L24 domain containing 1	114					ribosome biogenesis|translation	nucleolus|ribosome	structural constituent of ribosome			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	7						TCTTTATTTTTCTTCAATCTA	0.343000													8	3					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117710685	117710685	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:117710685G>A	ENST00000368508.3	-	12	1785	c.1587C>T	c.(1585-1587)atC>atT	p.I529I	ROS1_ENST00000368507.3_Silent_p.I538I|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	529					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CACATCCCACGATGAATTCAT	0.458000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								48	3					0	0	1	0	0
OR9A4	130075	broad.mit.edu	37	7	141619542	141619542	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:141619542C>T	ENST00000548136.1	+	1	926	c.867C>T	c.(865-867)atC>atT	p.I289I	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					ATCCTTTCATCTTCACCCTCC	0.458000													5	76					0	0	1	0	0
DUSP22	56940	broad.mit.edu	37	6	348175	348175	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:348175G>A	ENST00000604971.1	+	3	1140	c.27G>A	c.(25-27)gaG>gaA	p.E9E	DUSP22_ENST00000419235.2_Silent_p.E112E|DUSP22_ENST00000344450.5_Silent_p.E112E|DUSP22_ENST00000605315.1_Silent_p.E9E|DUSP22_ENST00000603453.1_Silent_p.E9E|DUSP22_ENST00000605035.1_Silent_p.E9E|DUSP22_ENST00000605863.1_Silent_p.E9E			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	112					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TTGGCTGGGAGGATGCCCTGC	0.602000													94	284					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34091156	34091156	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:34091156C>T	ENST00000397527.1	+	30	5679	c.4959C>T	c.(4957-4959)ctC>ctT	p.L1653L	CEP250_ENST00000342580.4_Silent_p.L1597L	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1653	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTCAGGATCTCGAGAGGAGAG	0.567000													79	92					0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116196096	116196096	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:116196096C>T	ENST00000369252.4	-	23	2381	c.2080G>A	c.(2080-2082)Gga>Aga	p.G694R	ABLIM1_ENST00000392952.3_Missense_Mutation_p.G431R|ABLIM1_ENST00000369266.3_Missense_Mutation_p.G431R|ABLIM1_ENST00000369253.2_Missense_Mutation_p.G377R|ABLIM1_ENST00000533213.2_Missense_Mutation_p.G694R|ABLIM1_ENST00000277895.5_Missense_Mutation_p.G754R	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	754					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		ATGGACATTCCAAAGATTTCC	0.448000													29	44					0	0	1	0	0
LY75	4065	broad.mit.edu	37	2	160661572	160661572	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:160661572G>A	ENST00000263636.4	-	35	5179	c.5152C>T	c.(5152-5154)Cct>Tct	p.P1718S	LY75-CD302_ENST00000505052.1_Intron|LY75-CD302_ENST00000504764.1_Intron|LY75_ENST00000553424.1_Intron|LY75_ENST00000554112.1_Intron	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TGGAAAGAAGGAAGCATAATC	0.388000													5	41					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134670529	134670529	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:134670529C>T	ENST00000398015.3	+	3	810	c.440C>T	c.(439-441)tCc>tTc	p.S147F	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	147						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						GAGAGCTTCTCCCAGGTGGAC	0.493000													73	105					0	0	1	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103574810	103574810	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:103574810C>T	ENST00000380069.3	+	10	2008	c.1932C>T	c.(1930-1932)atC>atT	p.I644I		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	644										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						AAGATGACATCCAGCGGCACC	0.607000													99	135					0	0	1	0	0
KCND1	3750	broad.mit.edu	37	X	48826487	48826487	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:48826487G>A	ENST00000218176.3	-	1	1489	c.192C>T	c.(190-192)acC>acT	p.T64T		NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	64						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						TGCCCAGCAAGGTGTCTGGGT	0.562000													4	13					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9009896	9009896	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:9009896G>A	ENST00000299698.7	+	24	3165	c.2985G>A	c.(2983-2985)acG>acA	p.T995T	A2ML1_ENST00000539547.1_Silent_p.T504T	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	839						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						GGCTGCTGACGGAGGAGATCA	0.522000													77	116					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87041138	87041138	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:87041138G>A	ENST00000370563.3	+	11	1849	c.1807G>A	c.(1807-1809)Gac>Aac	p.D603N	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	603						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AATGAATAAGGACGTAAACAG	0.403000													29	27					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51258636	51258636	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:51258636C>T	ENST00000395542.2	-	4	780	c.596G>A	c.(595-597)aGg>aAg	p.R199K	COBL_ENST00000395540.2_Missense_Mutation_p.R199K|COBL_ENST00000265136.7_Missense_Mutation_p.R199K|COBL_ENST00000441453.1_Missense_Mutation_p.R199K			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	199										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AATGTTGTCCCTGAGGAGAAC	0.562000													30	25					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21549990	21549990	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:21549990C>T	ENST00000425654.2	+	11	1588	c.1108C>T	c.(1108-1110)Ctt>Ttt	p.L370F	CNKSR2_ENST00000485012.1_3'UTR|CNKSR2_ENST00000379510.3_Missense_Mutation_p.L370F|CNKSR2_ENST00000279451.4_Missense_Mutation_p.L370F|CNKSR2_ENST00000543067.1_Missense_Mutation_p.L321F	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	370	DUF1170.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AAAAGGAAACCTTCCTTGTGA	0.388000													9	2					0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111530276	111530276	+	Silent	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:111530276T>C	ENST00000261486.5	-	17	1767	c.1491A>G	c.(1489-1491)aaA>aaG	p.K497K	CTC-459M5.2_ENST00000515563.1_RNA|EPB41L4A_ENST00000507810.1_5'UTR|CTC-459M5.2_ENST00000506875.1_RNA	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	497						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TGTTTCTCTTTTTCCGGTATT	0.378000													14	14					0	0	1	0	0
E2F7	144455	broad.mit.edu	37	12	77423987	77423987	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:77423987G>A	ENST00000322886.7	-	10	1743	c.1508C>T	c.(1507-1509)tCt>tTt	p.S503F	E2F7_ENST00000416496.2_Missense_Mutation_p.S503F	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	503					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CTGAGCAACAGAAAATACTGG	0.522000													51	64					0	0	1	0	0
ARMC12	221481	broad.mit.edu	37	6	35704998	35704998	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:35704998G>A	ENST00000373866.3	+	1	135	c.113G>A	c.(112-114)gGc>gAc	p.G38D	ARMC12_ENST00000288065.2_Missense_Mutation_p.G38D|ARMC12_ENST00000373869.3_Missense_Mutation_p.G38D			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	38							binding										ATCAAGGCTGGCATAAAATGC	0.617000											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	28					0	0	1	0	0
UBD	10537	broad.mit.edu	37	6	29524120	29524120	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:29524120A>T	ENST00000377050.4	-	2	258	c.35T>A	c.(34-36)gTc>gAc	p.V12D	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	12	Ubiquitin 1.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CTCGGAACGGACATGCACCTG	0.488000													31	32					0	0	1	0	0
FAM194A	131831	broad.mit.edu	37	3	150416638	150416638	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:150416638G>A	ENST00000295910.6	-	3	545	c.493C>T	c.(493-495)Cca>Tca	p.P165S	FAM194A_ENST00000491361.1_Missense_Mutation_p.P19S	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	165										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ACTGATACTGGAATTCCTGGA	0.368000													81	112					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32972844	32972844	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:32972844G>T	ENST00000544455.1	+	27	10421	c.10194G>T	c.(10192-10194)caG>caT	p.Q3398H	BRCA2_ENST00000380152.3_Missense_Mutation_p.Q3398H	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3398					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGAGTTCCCAGGCCAGTACGG	0.393000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			16	37					5.03518e-11	5.14149e-11	1	1	0
GTF3C1	2975	broad.mit.edu	37	16	27506150	27506150	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:27506150G>A	ENST00000356183.4	-	16	2727	c.2712C>T	c.(2710-2712)ctC>ctT	p.L904L	GTF3C1_ENST00000561623.1_Silent_p.L904L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	904						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						TGTCGCTGACGAGAGCCCAGC	0.532000													43	31					0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45234324	45234324	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:45234324C>T	ENST00000066544.3	-	7	890	c.797G>A	c.(796-798)cGa>cAa	p.R266Q	CDC27_ENST00000531206.1_Missense_Mutation_p.R266Q|CDC27_ENST00000446365.2_Missense_Mutation_p.R205Q|CDC27_ENST00000527547.1_Missense_Mutation_p.R266Q	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	266					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TAATAAACTTCGACCAGTTTT	0.358000													10	94					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236792	33236792	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:33236792C>T	ENST00000401073.2	+	6	2082	c.2012C>T	c.(2011-2013)tCc>tTc	p.S671F	KIAA1522_ENST00000373481.3_Missense_Mutation_p.S623F|KIAA1522_ENST00000373480.1_Missense_Mutation_p.S612F|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	612	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GCCCCCTTCTCCCCACCTCCC	0.642000													128	75					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712259	140712259	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:140712259G>A	ENST00000517417.1	+	1	2008	c.2008G>A	c.(2008-2010)Gac>Aac	p.D670N	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.D670N	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGATCTCCGACATCCTGGC	0.697000													99	15					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48453376	48453376	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:48453376T>A	ENST00000358536.4	-	28	5412	c.5143A>T	c.(5143-5145)Aag>Tag	p.K1715*	PLXNB1_ENST00000358459.4_Nonsense_Mutation_p.K1532*|PLXNB1_ENST00000456774.1_Nonsense_Mutation_p.K1532*|PLXNB1_ENST00000296440.6_Nonsense_Mutation_p.K1715*|PLXNB1_ENST00000448774.2_Nonsense_Mutation_p.K326*	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1715					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACTTGGTGCTTAATCCCTCGA	0.572000													170	30					0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128471452	128471452	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:128471452G>A	ENST00000322313.4	-	18	3171	c.3013C>T	c.(3013-3015)Cct>Tct	p.P1005S		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1005					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCTGGGTGAGGGCCACGCCTA	0.652000													14	234					0	0	1	0	0
DGKQ	1609	broad.mit.edu	37	4	954932	954932	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:954932G>A	ENST00000273814.3	-	22	2705	c.2632C>T	c.(2632-2634)Cga>Tga	p.R878*		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	878					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGCGTGACTCGGAAGTAGGAA	0.692000													22	23					0	0	1	0	0
ACTC1	70	broad.mit.edu	37	15	35083353	35083353	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:35083353C>T	ENST00000290378.4	-	6	1607	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	318					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GCAGTGATTTCCTTCTGCATA	0.453000													166	19					0	0	1	0	0
CYP24A1	1591	broad.mit.edu	37	20	52773722	52773722	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:52773722C>T	ENST00000216862.3	-	11	1934	c.1541G>A	c.(1540-1542)cGa>cAa	p.R514Q	CYP24A1_ENST00000395954.3_Missense_Mutation_p.R372Q|CYP24A1_ENST00000460643.1_5'UTR|CYP24A1_ENST00000395955.3_Missense_Mutation_p.R448Q	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	514					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GGCGTATTATCGCTGGCAAAA	0.557000													15	18					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72009043	72009043	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:72009043C>T	ENST00000378743.3	-	28	5556	c.5198G>A	c.(5197-5199)gGg>gAg	p.G1733E		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1733					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATCAAAATTCCCTTTACATAA	0.358000													26	37					0	0	1	0	0
PTPN1	5770	broad.mit.edu	37	20	49197870	49197870	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:49197870C>T	ENST00000371621.3	+	9	1331	c.1157C>T	c.(1156-1158)tCc>tTc	p.S386F	PTPN1_ENST00000541713.1_Missense_Mutation_p.S313F	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	386					blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	CAGGCTGCCTCCCCAGCCAAA	0.587000													24	43					0	0	1	0	0
CCDC86	79080	broad.mit.edu	37	11	60609844	60609844	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:60609844G>A	ENST00000227520.5	+	1	301	c.247G>A	c.(247-249)Ggg>Agg	p.G83R	RP11-804A23.4_ENST00000538705.1_RNA|RP11-804A23.2_ENST00000539897.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	83	Pro-rich.				interspecies interaction between organisms	nucleus				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						GTCACCCCAAGGGCAGCCAGA	0.657000													33	28					0	0	1	0	0
POU2F3	25833	broad.mit.edu	37	11	120175775	120175775	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:120175775G>A	ENST00000260264.4	+	7	521	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	POU2F3_ENST00000543440.2_Missense_Mutation_p.E161K	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	161					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		ATCCTCTTTAGAACCCCACCT	0.527000													36	9					0	0	1	0	0
MAP6	4135	broad.mit.edu	37	11	75298473	75298473	+	Silent	SNP	T	T	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:75298473T>G	ENST00000304771.3	-	4	2823	c.2073A>C	c.(2071-2073)gcA>gcC	p.A691A	CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Silent_p.A362A	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	691	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					CGTGAACCTTTGCATGCTCTG	0.473000													34	52					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2676817	2676817	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:2676817C>T	ENST00000399655.1	+	13	2017	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	CACNA1C_ENST00000406454.3_Silent_p.F584F|CACNA1C_ENST00000335762.5_Silent_p.F609F|CACNA1C_ENST00000399634.1_Silent_p.F584F|CACNA1C_ENST00000399649.1_Silent_p.F584F|CACNA1C_ENST00000399629.1_Silent_p.F584F|CACNA1C_ENST00000399644.1_Silent_p.F584F|CACNA1C_ENST00000399603.1_Silent_p.F584F|CACNA1C_ENST00000399638.1_Silent_p.F584F|CACNA1C_ENST00000347598.4_Silent_p.F584F|CACNA1C_ENST00000399595.1_Silent_p.F584F|CACNA1C_ENST00000327702.7_Silent_p.F584F|CACNA1C_ENST00000399606.1_Silent_p.F584F|CACNA1C_ENST00000344100.3_Silent_p.F584F|CACNA1C_ENST00000399621.1_Silent_p.F584F|CACNA1C_ENST00000399597.1_Silent_p.F584F|CACNA1C_ENST00000399591.1_Silent_p.F584F|CACNA1C_ENST00000399617.1_Silent_p.F584F|CACNA1C_ENST00000399637.1_Silent_p.F584F|CACNA1C_ENST00000399601.1_Silent_p.F584F|CACNA1C_ENST00000402845.3_Silent_p.F584F|CACNA1C_ENST00000480911.1_Silent_p.F584F|CACNA1C_ENST00000399641.1_Silent_p.F584F	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	584					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)	AGGCCTACTTCGTGTCCCTCT	0.607000													6	14					0	0	1	0	0
CHODL	140578	broad.mit.edu	37	21	19629404	19629404	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr21:19629404G>A	ENST00000299295.2	+	3	898	c.507G>A	c.(505-507)agG>agA	p.R169R	CHODL_ENST00000400127.1_Silent_p.R128R|CHODL_ENST00000400131.1_Silent_p.R128R|CHODL_ENST00000400128.1_Silent_p.R128R|CHODL_ENST00000338326.3_Silent_p.R128R|CHODL_ENST00000400135.1_Silent_p.R128R|CHODL_ENST00000543733.1_Silent_p.R150R	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	169	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		ATGATGACAGGTGTAACATGA	0.403000													7	88					0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75289404	75289404	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:75289404G>A	ENST00000319786.7	-	15	2937	c.2094C>T	c.(2092-2094)ctC>ctT	p.L698L	USP54_ENST00000339859.4_Intron|USP54_ENST00000428547.1_Intron|USP54_ENST00000394811.2_Intron|USP54_ENST00000408019.1_Intron|USP54_ENST00000497106.1_Intron			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	0					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					ATTGCTGCAAGAGACAATGTT	0.507000											OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	50					0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24372999	24372999	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:24372999C>T	ENST00000005284.3	+	4	1965	c.763C>T	c.(763-765)Cac>Tac	p.H255Y		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	255					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 complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CAAAGGCTTCCACACCATCCC	0.612000													62	51					0	0	1	0	0
TMEM59L	25789	broad.mit.edu	37	19	18729265	18729265	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:18729265C>T	ENST00000600490.1	+	8	1048	c.863C>T	c.(862-864)aCc>aTc	p.T288I	TMEM59L_ENST00000262817.3_Missense_Mutation_p.T288I			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	288						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						AGCTGCTCCACCCTGGTGACC	0.677000													11	10					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227906890	227906890	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:227906890C>T	ENST00000396625.3	-	37	3686	c.3479G>A	c.(3478-3480)gGg>gAg	p.G1160E	COL4A4_ENST00000329662.7_Missense_Mutation_p.G1160E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1160	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ACCTGGTATCCCTGGATCCCC	0.542000													5	57					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280073	152280073	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:152280073C>T	ENST00000368799.1	-	3	7324	c.7289G>A	c.(7288-7290)cGg>cAg	p.R2430Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2430	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)			GGTCCCGGTCCGTCCATGGGC	0.587000									Ichthyosis				115	273					0	0	1	0	0
FAM53B	9679	broad.mit.edu	37	10	126370273	126370273	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:126370273G>A	ENST00000337318.3	-	4	1020	c.809C>T	c.(808-810)cCg>cTg	p.P270L	RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000392754.3_Missense_Mutation_p.P270L|FAM53B_ENST00000280780.6_Missense_Mutation_p.P270L	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	270										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		AAGGACACACGGCTGGGAGCG	0.582000													4	5					0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176517623	176517623	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:176517623C>T	ENST00000292408.4	+	3	569	c.324C>T	c.(322-324)atC>atT	p.I108I	FGFR4_ENST00000502906.1_Silent_p.I108I|FGFR4_ENST00000393648.2_Silent_p.I108I|FGFR4_ENST00000292410.3_Silent_p.I108I|FGFR4_ENST00000393637.1_Silent_p.I108I	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	108	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)	GCTCCATGATCGTCCTGCAGA	0.597000										TSP Lung(9;0.080)			26	8					0	0	1	0	0
MMP20	9313	broad.mit.edu	37	11	102482568	102482568	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:102482568C>T	ENST00000260228.2	-	3	453	c.441G>A	c.(439-441)caG>caA	p.Q147Q	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	147					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		TACTCCAGGCCTGCAAGGCCA	0.438000													23	3					0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325563	150325563	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:150325563C>T	ENST00000328902.5	-	3	339	c.123G>A	c.(121-123)ctG>ctA	p.L41L	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	41							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAATGAGCCTCAGTCTCCTTG	0.517000													119	236					0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113547963	113547963	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:113547963C>T	ENST00000416899.2	+	11	1845	c.1719C>T	c.(1717-1719)atC>atT	p.I573I	MUSK_ENST00000374438.1_Silent_p.I97I|MUSK_ENST00000374448.4_Silent_p.I581I|MUSK_ENST00000189978.5_Silent_p.I581I			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	581					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TGAGAGACATCGGAGAGGGAG	0.428000													10	28					0	0	1	0	0
OR7C1	26664	broad.mit.edu	37	19	14910890	14910890	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:14910890G>A	ENST00000248073.2	-	1	133	c.59C>T	c.(58-60)aCg>aTg	p.T20M	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	20					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AATCTCTGACGTTGCTGAAAA	0.458000													8	126					0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114141464	114141464	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:114141464G>A	ENST00000276198.1	+	6	1591	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Missense_Mutation_p.R288Q	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	288					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	p.R288Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	AACGCACGCCGAAGAAAGAAG	0.488000													23	3					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116428926	116428926	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:116428926G>A	ENST00000281928.3	-	17	4039	c.3833C>T	c.(3832-3834)gCg>gTg	p.A1278V		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1278					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CTGCTCCAACGCATTAAAGCA	0.493000													33	66					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123512533	123512533	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:123512533G>A	ENST00000360772.3	-	5	534	c.156C>T	c.(154-156)ttC>ttT	p.F52F	MYLK_ENST00000360304.3_Silent_p.F52F|MYLK_ENST00000346322.5_Silent_p.F52F|MYLK_ENST00000359169.1_Silent_p.F52F|MYLK_ENST00000475616.1_Silent_p.F52F			Q15746	MYLK_HUMAN	myosin light chain kinase	52	Ig-like C2-type 1.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.F52F(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCCGCCCTTCGAACTTGGCGG	0.602000													24	32					0	0	1	0	0
KRT23	25984	broad.mit.edu	37	17	39092524	39092524	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:39092524C>T	ENST00000209718.3	-	2	756	c.332G>A	c.(331-333)aGa>aAa	p.R111K	KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	111	Linker 1.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GCCAGGATCTCTCTGCTGGTG	0.547000													59	8					0	0	1	0	0
KDM1A	23028	broad.mit.edu	37	1	23382520	23382520	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:23382520T>A	ENST00000400181.4	+	7	1083	c.979T>A	c.(979-981)Ttg>Atg	p.L327M	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Missense_Mutation_p.L327M|KDM1A_ENST00000356634.3_Missense_Mutation_p.L307M	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	307	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGTCACACTTTTGGAAGCCAG	0.368000													20	49					0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24309789	24309789	+	Silent	SNP	A	A	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:24309789A>G	ENST00000357002.4	+	4	1102	c.987A>G	c.(985-987)aaA>aaG	p.K329K	ZNF254_ENST00000342944.6_Silent_p.K244K	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	329					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AATGTGGCAAAGCATTTATAT	0.403000													4	31					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320429	79320429	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:79320429C>T	ENST00000428286.1	-	8	6884	c.5684G>A	c.(5683-5685)aGc>aAc	p.S1895N	PRUNE2_ENST00000376718.3_Missense_Mutation_p.S2254N			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2254					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGGAGAAAAGCTGTCTGATAT	0.453000													6	15					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107568639	107568639	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:107568639G>A	ENST00000374736.3	-	31	4741	c.4347C>T	c.(4345-4347)ttC>ttT	p.F1449F		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1449					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCCCATTCTGGAAGAGGTCCA	0.577000													10	19					0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18661787	18661787	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:18661787C>T	ENST00000308799.4	+	6	1708	c.1489C>T	c.(1489-1491)Ctc>Ttc	p.L497F	FBXW10_ENST00000395665.4_Missense_Mutation_p.L468F|FBXW10_ENST00000301938.4_Missense_Mutation_p.L468F|FBXW10_ENST00000395667.1_Missense_Mutation_p.L468F			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	468										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GGAAAACTTTCTCCTAAGCGG	0.527000													6	45					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87150165	87150165	+	Silent	SNP	G	G	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:87150165G>T	ENST00000265724.3	-	23	3130	c.2713C>A	c.(2713-2715)Cga>Aga	p.R905R	ABCB1_ENST00000543898.1_Silent_p.R841R|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	905	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	ACAACGGTTCGGAAGTTTTCT	0.413000													7	45					1.26484e-09	1.28702e-09	1	1	0
NR5A1	2516	broad.mit.edu	37	9	127262844	127262844	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:127262844G>A	ENST00000373588.4	-	4	591	c.395C>T	c.(394-396)cCc>cTc	p.P132L		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	132					cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						TGCGGGAGGGGGCGGCGGGGG	0.697000													11	28					0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5758698	5758698	+	Missense_Mutation	SNP	C	C	T	rs148131819		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:5758698C>T	ENST00000317121.3	+	1	1018	c.952C>T	c.(952-954)Ctt>Ttt	p.L318F	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	318					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		GCTGTTTGCCCTTACAAAAGA	0.408000													35	29					0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155920117	155920117	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:155920117G>A	ENST00000368316.1	-	25	3246	c.2776C>T	c.(2776-2778)Cgt>Tgt	p.R926C	ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R926C|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R953C|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.R955C|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R954C			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	954					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGAGACAGACGGCTGCTACCT	0.622000													45	128					0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41729922	41729922	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:41729922C>T	ENST00000242208.4	-	3	853	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	INHBA_ENST00000442711.1_Missense_Mutation_p.E203K|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	203					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGCAACAGTTCACTCCTCTCC	0.582000										TSP Lung(11;0.080)			17	29					0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130286925	130286925	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:130286925C>T	ENST00000257359.6	-	3	1712	c.1006G>A	c.(1006-1008)Gac>Aac	p.D336N		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	336	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GTCCCGATGTCTGCCACACCC	0.602000													6	52					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28992935	28992935	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr18:28992935G>A	ENST00000359747.4	+	15	2586	c.2557G>A	c.(2557-2559)Gaa>Aaa	p.E853K	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.E834K|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	834					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AAGCTGCATGGAAACTTTAGA	0.433000													43	46					0	0	1	0	0
ZNF343	79175	broad.mit.edu	37	20	2464182	2464182	+	Silent	SNP	A	A	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:2464182A>G	ENST00000278772.4	-	6	1912	c.1425T>C	c.(1423-1425)agT>agC	p.S475S	RP4-734P14.4_ENST00000461548.1_Intron	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S475S(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						GTGATTTCCGACTAAAGCCTC	0.527000													3	106					0	0	1	0	0
ZNF276	92822	broad.mit.edu	37	16	89789220	89789220	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:89789220G>A	ENST00000289816.5	+	2	574	c.262G>A	c.(262-264)Ggt>Agt	p.G88S	ZNF276_ENST00000568064.1_Missense_Mutation_p.G88S|ZNF276_ENST00000443381.2_Missense_Mutation_p.G163S|ZNF276_ENST00000446326.2_5'UTR	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	163	ZAD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCCCCGGCTGGTCGCCGGAA	0.592000													53	47					0	0	1	0	0
IGFL2	147920	broad.mit.edu	37	19	46664137	46664137	+	Splice_Site	SNP	A	A	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:46664137A>G	ENST00000434646.2	+	4	664	c.374_splice	c.e4+1	p.S125_splice	IGFL2_ENST00000600243.1_3'UTR|AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000377693.4_Splice_Site_p.S114_splice	NM_001002915.2	NP_001002915.2	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	114						extracellular region	protein binding			cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		TAAATGTGAAAGGTAGGGACC	0.532000													14	24					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860284	16860284	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:16860284C>T	ENST00000524140.2	+	6	1249	c.831C>T	c.(829-831)gtC>gtT	p.V277V	NWD1_ENST00000552788.1_Silent_p.V277V|NWD1_ENST00000549814.1_Silent_p.V277V|NWD1_ENST00000379808.3_Silent_p.V277V|NWD1_ENST00000339803.6_Silent_p.V142V|NWD1_ENST00000523826.1_Silent_p.V71V	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	277							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATCACCAGGTCCTCACACGCC	0.602000													14	29					0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150698342	150698342	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:150698342C>G	ENST00000297494.3	+	11	1614	c.1257C>G	c.(1255-1257)gaC>gaG	p.D419E	NOS3_ENST00000484524.1_Missense_Mutation_p.D419E|NOS3_ENST00000467517.1_Missense_Mutation_p.D419E|NOS3_ENST00000461406.1_Missense_Mutation_p.D213E	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	419	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CCATCGTGGACCACCACGCCG	0.627000													33	162					0	0	1	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724753	38724753	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:38724753C>T	ENST00000342213.2	-	1	821	c.475G>A	c.(475-477)Gag>Aag	p.E159K		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	159	C-type lectin.					integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CATCGCATCTCCTTCCAGCCT	0.677000													48	4					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754646	49754646	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:49754646G>A	ENST00000304801.3	-	1	407	c.255C>T	c.(253-255)ctC>ctT	p.L85L		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	85					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GCAAGGATTTGAGCTCAACAG	0.512000													41	30					0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107331743	107331743	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:107331743G>A	ENST00000335040.1	+	1	295	c.295G>A	c.(295-297)Gtg>Atg	p.V99M		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TGGGTGTATGGTGCAAATGTT	0.483000													16	38					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80735836	80735836	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:80735836C>T	ENST00000458043.2	+	43	5138	c.5132C>T	c.(5131-5133)tCa>tTa	p.S1711L	OTOGL_ENST00000547103.1_Missense_Mutation_p.S1699L	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATTGAGAAATCATTTGAAGTA	0.333000													6	7					0	0	1	0	0
PCSK2	5126	broad.mit.edu	37	20	17434589	17434589	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:17434589C>T	ENST00000262545.2	+	9	1403	c.1088C>T	c.(1087-1089)cCc>cTc	p.P363L	PCSK2_ENST00000536609.1_Missense_Mutation_p.P328L|PCSK2_ENST00000377899.1_Missense_Mutation_p.P344L	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	363	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAAAGGAACCCCGAGGCCGGT	0.602000													30	29					0	0	1	0	0
TRIM17	51127	broad.mit.edu	37	1	228596950	228596950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:228596950G>A	ENST00000366697.2	-	5	1762	c.806C>T	c.(805-807)cCa>cTa	p.P269L	TRIM17_ENST00000456946.2_Missense_Mutation_p.P269L|TRIM17_ENST00000366698.2_Missense_Mutation_p.P269L|TRIM17_ENST00000295033.3_Missense_Mutation_p.P269L|RP11-245P10.4_ENST00000436779.1_RNA			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	269					protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				GGCAACCTCTGGGCACTGCAC	0.607000													12	260					0	0	1	0	0
ATF4	468	broad.mit.edu	37	22	39918231	39918231	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:39918231C>T	ENST00000337304.2	+	2	1562	c.680C>T	c.(679-681)tCc>tTc	p.S227F	ATF4_ENST00000396680.1_Missense_Mutation_p.S227F|ATF4_ENST00000404241.2_Missense_Mutation_p.S227F	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	227					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					AGCCCAGAGTCCTATCTGGGG	0.542000													8	13					0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17370460	17370460	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:17370460G>A	ENST00000252597.3	-	6	1023	c.850C>T	c.(850-852)Cag>Tag	p.Q284*	USHBP1_ENST00000431146.2_Nonsense_Mutation_p.Q220*	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	284							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CTGAGGGGCTGGTTGGGAAGA	0.582000													66	97					0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	53980363	53980363	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:53980363C>T	ENST00000312233.2	-	7	1859	c.1293G>A	c.(1291-1293)ctG>ctA	p.L431L		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	431					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						TGGTGGCATCCAGCGGGTGGT	0.642000													51	75					0	0	1	0	0
MFI2	4241	broad.mit.edu	37	3	196749883	196749883	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:196749883C>T	ENST00000296350.5	-	5	702	c.589G>A	c.(589-591)Ggg>Agg	p.G197R	MFI2_ENST00000296351.4_Missense_Mutation_p.G197R	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	197	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		TCACACACCCCTTCCCCAGAG	0.652000													63	103					0	0	1	0	0
RTDR1	27156	broad.mit.edu	37	22	23401775	23401775	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:23401775C>T	ENST00000216036.4	-	7	1108	c.912G>A	c.(910-912)gaG>gaA	p.E304E		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	304							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CCTTGCGGCCCTCGGGGGCCT	0.647000													20	76					0	0	1	0	0
LMF2	91289	broad.mit.edu	37	22	50944159	50944159	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:50944159T>C	ENST00000216080.5	-	6	953	c.785A>G	c.(784-786)gAc>gGc	p.D262G	LMF2_ENST00000380796.3_Missense_Mutation_p.D287G|LMF2_ENST00000505981.1_5'UTR|LMF2_ENST00000474879.2_Missense_Mutation_p.D287G			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	287						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTGCTGGTCGTCCAGCAGCGC	0.642000													4	65					0	0	1	0	0
SECISBP2	79048	broad.mit.edu	37	9	91949601	91949601	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:91949601C>T	ENST00000375807.3	+	7	1116	c.1045C>T	c.(1045-1047)Cct>Tct	p.P349S	SECISBP2_ENST00000534113.2_Missense_Mutation_p.P281S|SECISBP2_ENST00000339901.4_Missense_Mutation_p.P276S	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	349					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						ATCTTCGGATCCTTCCTACAA	0.388000													21	29					0	0	1	0	0
DHX33	56919	broad.mit.edu	37	17	5372023	5372023	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:5372023G>A	ENST00000225296.3	-	1	357	c.157C>T	c.(157-159)Ccg>Tcg	p.P53S	DHX33_ENST00000433302.3_Missense_Mutation_p.P53S	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	53						nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCCAGGGGCGGCTGCTGCCTC	0.711000													3	27					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185184628	185184628	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:185184628T>C	ENST00000265026.3	+	10	1854	c.1520T>C	c.(1519-1521)gTg>gCg	p.V507A	MAP3K13_ENST00000443863.1_Missense_Mutation_p.V363A|MAP3K13_ENST00000424227.1_Missense_Mutation_p.V507A|MAP3K13_ENST00000535426.1_Missense_Mutation_p.V363A|MAP3K13_ENST00000446828.1_Missense_Mutation_p.V300A	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	507	Leucine-zipper 2.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GAGCAAGCAGTGGAAAAGAAG	0.473000													4	105					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61761101	61761101	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:61761101G>A	ENST00000577390.1	-	9	2387	c.1433C>T	c.(1432-1434)tCa>tTa	p.S478L	CDH8_ENST00000577730.1_Missense_Mutation_p.S478L|CDH8_ENST00000299345.6_Missense_Mutation_p.S478L|CDH8_ENST00000584337.1_Missense_Mutation_p.S478L	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	478	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AGGTACTCGTGATATCTGACT	0.413000													9	37					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118537122	118537122	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:118537122G>A	ENST00000336338.5	-	35	5150	c.5085C>T	c.(5083-5085)ttC>ttT	p.F1695F		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1695						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATGCTTCATGGAAAGGGCGAA	0.428000													14	26					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24787875	24787875	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:24787875G>A	ENST00000310677.4	-	25	3179	c.3066C>T	c.(3064-3066)gtC>gtT	p.V1022V	ADCY4_ENST00000554068.2_Silent_p.V1022V|ADCY4_ENST00000418030.2_Silent_p.V1022V	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	1022					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|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TTTTGCCAAGGACTCCTGTAC	0.552000													64	8					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179598410	179598410	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:179598410C>T	ENST00000589042.1	-	53	15930	c.15706G>A	c.(15706-15708)Ggc>Agc	p.G5236S	TTN_ENST00000342992.6_Missense_Mutation_p.G3992S|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G4919S|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4919	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)			GTGTATTTGCCTCCAAAACTA	0.393000													29	9					0	0	1	0	0
YIPF7	285525	broad.mit.edu	37	4	44626661	44626661	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:44626661G>A	ENST00000332990.5	-	5	653	c.637C>T	c.(637-639)Ccc>Tcc	p.P213S		NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	213						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						ATGACCATGGGGAGCAGGCAG	0.542000													13	10					0	0	1	0	0
ZNF134	7693	broad.mit.edu	37	19	58132598	58132598	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:58132598C>T	ENST00000396161.5	+	3	1421	c.1111C>T	c.(1111-1113)Cct>Tct	p.P371S		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	371						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TGGTGAAAGGCCTTTTGTGTG	0.453000													15	29					0	0	1	0	0
BMP3	651	broad.mit.edu	37	4	81967395	81967395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:81967395G>A	ENST00000282701.2	+	2	1140	c.820G>A	c.(820-822)Gat>Aat	p.D274N		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	274					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TCCCAAATGGGATAGCCACAT	0.517000													26	16					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34006261	34006261	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:34006261C>T	ENST00000373381.4	-	60	9671	c.9495G>A	c.(9493-9495)ggG>ggA	p.G3165G		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3139	Sushi 25.					integral to membrane|plasma membrane	protein binding	p.G3021G(1)		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)				CCACCACCTTCCCATTGGGGA	0.602000													9	171					0	0	1	0	0
SRRT	51593	broad.mit.edu	37	7	100485698	100485698	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:100485698C>A	ENST00000388793.4	+	18	2579	c.2359C>A	c.(2359-2361)Cca>Aca	p.P787T	SRRT_ENST00000347433.4_Missense_Mutation_p.P788T|SRRT_ENST00000432932.1_Missense_Mutation_p.P783T|SRRT_ENST00000457580.2_Missense_Mutation_p.P784T	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	788	Pro-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ACTCCCCTACCCACACCAGAC	0.607000													4	164					0.217242	0.217242	1	1	0
TNFRSF12A	51330	broad.mit.edu	37	16	3071913	3071913	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:3071913G>A	ENST00000575124.1	+	3	662	c.639G>A	c.(637-639)cgG>cgA	p.R213R	TNFRSF12A_ENST00000326577.4_3'UTR|TNFRSF12A_ENST00000573001.1_3'UTR|TNFRSF12A_ENST00000341627.5_3'UTR			Q9NP84	TNR12_HUMAN	tumor necrosis factor receptor superfamily, member 12A	107					angiogenesis|apoptosis	integral to membrane	receptor activity			lung(1)|skin(1)	2						AGACGCGGCGGGAGCCAAGCT	0.637000													3	7					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36230906	36230906	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:36230906A>C	ENST00000303965.4	-	2	692	c.203T>G	c.(202-204)tTg>tGg	p.L68W		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	68	SAM.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CATTTTTGACAAGATTATCTG	0.368000													9	23					0	0	1	0	0
DLX3	1747	broad.mit.edu	37	17	48072097	48072097	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:48072097C>T	ENST00000434704.2	-	1	491	c.266G>A	c.(265-267)gGa>gAa	p.G89E		NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	89						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GTAGGAGGCTCCGTAGGTATA	0.622000													5	49					0	0	1	0	0
TRBV6-7	28600	broad.mit.edu	37	7	142143833	142143833	+	RNA	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:142143833G>A	ENST00000390373.2	-	0	162																											GGGTCTTGTCGATACCGATAC	0.493000													95	115					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152410454	152410454	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:152410454G>T	ENST00000427231.2	-	126	19716	c.19514C>A	c.(19513-19515)tCc>tAc	p.S6505Y	NEB_ENST00000604864.1_Missense_Mutation_p.S6505Y|NEB_ENST00000409198.1_Missense_Mutation_p.S4804Y|NEB_ENST00000172853.10_Missense_Mutation_p.S4804Y|NEB_ENST00000397345.3_Missense_Mutation_p.S6505Y|NEB_ENST00000603639.1_Missense_Mutation_p.S6505Y	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	4804	Interaction with SVIL.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTCTTCTGGGAATCCTTGGC	0.453000													81	22					1.92787e-56	1.99099e-56	1	1	0
ANLN	54443	broad.mit.edu	37	7	36462335	36462335	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:36462335T>C	ENST00000265748.2	+	14	2614	c.2393T>C	c.(2392-2394)aTg>aCg	p.M798T	ANLN_ENST00000396068.2_Missense_Mutation_p.M761T	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	798	Localization to the cleavage furrow.				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						AGTGAATTTATGCCATCCAAA	0.398000													49	80					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13824344	13824344	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:13824344G>A	ENST00000265104.4	-	39	6647	c.6543C>T	c.(6541-6543)gtC>gtT	p.V2181V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2181					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTACACGCATGACAATCGTGG	0.443000									Kartagener syndrome				46	10					0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155239418	155239418	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:155239418C>A	ENST00000368361.4	-	3	575	c.260G>T	c.(259-261)gGa>gTa	p.G87V	CLK2_ENST00000355560.4_Missense_Mutation_p.G86V|CLK2_ENST00000536801.1_Missense_Mutation_p.G87V|CLK2_ENST00000361168.5_Missense_Mutation_p.G87V			P49760	CLK2_HUMAN	CDC-like kinase 2	87						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTAGGCATCTCCCCGATCCCG	0.547000								Other conserved DNA damage response genes					204	192					1.8298e-113	1.8951e-113	1	1	0
SLAMF8	56833	broad.mit.edu	37	1	159803058	159803058	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:159803058G>A	ENST00000289707.5	+	4	829	c.680G>A	c.(679-681)gGg>gAg	p.G227E	SLAMF8_ENST00000471286.1_3'UTR|SLAMF8_ENST00000368104.4_Missense_Mutation_p.G118E	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	227						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					TCAGCACCAGGGAAGGCCTCC	0.567000													211	180					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75893013	75893013	+	Silent	SNP	G	G	A	rs147111006	by1000genomes	TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:75893013G>A	ENST00000322507.8	-	10	1953	c.1644C>T	c.(1642-1644)atC>atT	p.I548I	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Silent_p.I548I|COL12A1_ENST00000483888.2_Silent_p.I548I	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	548	VWFA 2.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TCCCATCCGTGATAAGAATCA	0.413000													69	14					0	0	1	0	0
TEPP	374739	broad.mit.edu	37	16	58010475	58010475	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:58010475A>G	ENST00000290871.5	+	1	137	c.100A>G	c.(100-102)Act>Gct	p.T34A	TEPP_ENST00000441824.2_Missense_Mutation_p.T34A	NM_199046.2	NP_950247.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	34						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						CAGTCAAAGAACTGAAAGTCC	0.512000													38	32					0	0	1	0	0
SFXN5	94097	broad.mit.edu	37	2	73215456	73215456	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:73215456G>A	ENST00000272433.2	-	10	686	c.556C>T	c.(556-558)Cag>Tag	p.Q186*	SFXN5_ENST00000410065.1_Nonsense_Mutation_p.Q186*|SFXN5_ENST00000474528.1_5'UTR	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	186					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						TTGGCTTTCTGAACCAGGACA	0.498000													19	4					0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51412038	51412038	+	Missense_Mutation	SNP	G	G	A	rs141762692		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:51412038G>A	ENST00000319760.6	-	1	410	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	120					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)				GCCACATAGCGATCACAGGCC	0.468000													11	20					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13883157	13883157	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:13883157G>A	ENST00000265104.4	-	20	3134	c.3030C>T	c.(3028-3030)ttC>ttT	p.F1010F	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1010	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGCTTGCCCGGAAAATGGGCA	0.458000									Kartagener syndrome				5	97					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1042381	1042381	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:1042381G>A	ENST00000263094.6	+	6	714	c.483G>A	c.(481-483)acG>acA	p.T161T	ABCA7_ENST00000433129.1_Silent_p.T161T	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	161					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTGCTGACGTCACTGCTGC	0.682000													4	126					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77334279	77334279	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:77334279G>A	ENST00000282849.5	-	17	2973	c.2555C>T	c.(2554-2556)cCa>cTa	p.P852L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	852	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGCTATCCCTGGATTTTTGCC	0.438000													22	78					0	0	1	0	0
CRTAC1	55118	broad.mit.edu	37	10	99770906	99770906	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:99770906G>A	ENST00000370597.3	-	2	568	c.213C>T	c.(211-213)atC>atT	p.I71I	CRTAC1_ENST00000298819.4_Silent_p.I71I|CRTAC1_ENST00000370591.2_Silent_p.I71I	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	71						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CCGCCACGACGATCTCAAAGT	0.493000													38	54					0	0	1	0	0
HTATSF1	27336	broad.mit.edu	37	X	135581896	135581896	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:135581896C>T	ENST00000535601.1	+	3	748	c.326C>T	c.(325-327)aCt>aTt	p.T109I	HTATSF1_ENST00000218364.4_Missense_Mutation_p.T109I	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	109					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					CCGGAACCCACTGATGCCAGA	0.433000													22	3					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118365428	118365428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:118365428C>T	ENST00000534358.1	+	18	5332	c.5309C>T	c.(5308-5310)cCa>cTa	p.P1770L	KMT2A_ENST00000354520.4_Missense_Mutation_p.P1729L|KMT2A_ENST00000389506.5_Missense_Mutation_p.P1767L	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CGTGTTTTTCCATGGTTCAGT	0.333000													5	8					0	0	1	0	0
SUN3	256979	broad.mit.edu	37	7	48026965	48026965	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:48026965G>A	ENST00000453192.2	-	11	1243	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*	SUN3_ENST00000412142.1_Nonsense_Mutation_p.R258*|SUN3_ENST00000395572.2_Nonsense_Mutation_p.R346*|SUN3_ENST00000297325.4_Nonsense_Mutation_p.R346*|SUN3_ENST00000473723.1_5'UTR			Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	346	SUN.					integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACCCTGAATCGATATAAACAA	0.383000													46	132					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48381965	48381965	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:48381965C>T	ENST00000224600.4	-	4	3797	c.3684G>A	c.(3682-3684)gaG>gaA	p.E1228E		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1228	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GCTGGAGCATCTCCTTGGCCC	0.662000													12	11					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167031894	167031894	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:167031894G>A	ENST00000392766.2	-	16	1625	c.1285C>T	c.(1285-1287)Cat>Tat	p.H429Y	ZBBX_ENST00000392767.2_Missense_Mutation_p.H429Y|ZBBX_ENST00000392764.1_Missense_Mutation_p.H400Y|ZBBX_ENST00000455345.2_Missense_Mutation_p.H429Y|ZBBX_ENST00000307529.5_Missense_Mutation_p.H429Y	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	429						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGACAATCATGAAAAGCACAA	0.289000													8	24					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76506499	76506499	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:76506499C>T	ENST00000389840.5	-	27	4315	c.4191G>A	c.(4189-4191)gtG>gtA	p.V1397V	DNAH17_ENST00000585328.1_Silent_p.V1398V					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGGCCTTGTCCACGATGTTGC	0.537000													75	170					0	0	1	0	0
HS3ST5	222537	broad.mit.edu	37	6	114379321	114379321	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:114379321C>T	ENST00000312719.5	-	5	1329	c.141G>A	c.(139-141)ctG>ctA	p.L47L	RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.L47L			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	47					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GGGCTCCACCCAGTCGACCTT	0.542000													11	12					0	0	1	0	0
SH2B2	10603	broad.mit.edu	37	7	101957830	101957830	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:101957830G>A	ENST00000536178.1	+	8	1519	c.1474G>A	c.(1474-1476)Gtg>Atg	p.V492M	SH2B2_ENST00000306803.8_Missense_Mutation_p.V454M			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	455	SH2.				blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						TGGGGAGTACGTGCTGACCTT	0.657000													8	48					0	0	1	0	0
DGKE	8526	broad.mit.edu	37	17	54940014	54940014	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:54940014G>A	ENST00000284061.3	+	12	1746	c.1566G>A	c.(1564-1566)ggG>ggA	p.G522G		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	522					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					AGGTGGATGGGGAGCCTTGGG	0.433000													8	2					0	0	1	0	0
ABHD1	84696	broad.mit.edu	37	2	27346828	27346828	+	Silent	SNP	C	C	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:27346828C>A	ENST00000316470.4	+	1	126	c.12C>A	c.(10-12)tcC>tcA	p.S4S		NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	4						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGAGCTCCTTCCTGAGCC	0.637000													6	69					5.18039e-06	5.23086e-06	1	1	0
PPP2R2A	5520	broad.mit.edu	37	8	26218498	26218498	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:26218498C>T	ENST00000380737.3	+	6	797	c.468C>T	c.(466-468)gtC>gtT	p.V156V	PPP2R2A_ENST00000315985.7_Silent_p.V166V	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha											kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		AGGTGCCAGTCTTTAGGCCTA	0.338000													35	48					0	0	1	0	0
ATL3	25923	broad.mit.edu	37	11	63426317	63426317	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:63426317G>A	ENST00000398868.3	-	3	597	c.321C>T	c.(319-321)tcC>tcT	p.S107S	ATL3_ENST00000538786.1_Silent_p.S89S|ATL3_ENST00000332645.4_Silent_p.S134S|RP11-697H9.2_ENST00000540307.1_RNA	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	107					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						CCCCTCTCCAGGAAAATCCTG	0.403000													42	88					0	0	1	0	0
DCUN1D1	54165	broad.mit.edu	37	3	182683387	182683387	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:182683387C>T	ENST00000292782.4	-	2	311	c.158G>A	c.(157-159)cGa>cAa	p.R53Q	DCUN1D1_ENST00000469954.1_Missense_Mutation_p.R38Q	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	53						ubiquitin ligase complex	protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TACACTCTCTCGTATATAAAG	0.348000													5	62					0	0	1	0	0
MANBAL	63905	broad.mit.edu	37	20	35929739	35929739	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:35929739G>C	ENST00000373605.3	+	3	885	c.73G>C	c.(73-75)Gga>Cga	p.G25R	MANBAL_ENST00000397150.1_Missense_Mutation_p.G25R|MANBAL_ENST00000373606.3_Missense_Mutation_p.G25R|MANBAL_ENST00000397152.3_Missense_Mutation_p.G25R|MANBAL_ENST00000397156.3_Missense_Mutation_p.G25R|MANBAL_ENST00000397151.1_Missense_Mutation_p.G25R			Q9NQG1	MANBL_HUMAN	mannosidase, beta A, lysosomal-like	25						integral to membrane				large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(115;0.00878)				GCTACGGTACGGACTCTTCCT	0.597000													64	62					0	0	1	0	0
ENTPD3	956	broad.mit.edu	37	3	40468952	40468952	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:40468952A>C	ENST00000301825.3	+	11	1661	c.1543A>C	c.(1543-1545)Aag>Cag	p.K515Q	ENTPD3_ENST00000456402.1_Missense_Mutation_p.K515Q|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	515						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		AACCAGAAGAAAGAGGCACTC	0.537000													25	35					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55533636	55533636	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:55533636G>A	ENST00000220676.1	+	2	258	c.110G>A	c.(109-111)cGa>cAa	p.R37Q		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	37	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTGGCCAAGCGAATCAGTTTC	0.522000													55	55					0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241929524	241929524	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:241929524C>T	ENST00000366552.2	+	15	2129	c.1922C>T	c.(1921-1923)cCc>cTc	p.P641L	WDR64_ENST00000437684.2_Missense_Mutation_p.P641L	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	641										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CTTCAGAATCCCACCATGGAT	0.363000													24	26					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33584226	33584226	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:33584226G>A	ENST00000262873.7	+	27	3239	c.3147G>A	c.(3145-3147)caG>caA	p.Q1049Q		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1007						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGGCGTTGCAGGAGGCCCACC	0.657000													23	20					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19433144	19433144	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:19433144C>T	ENST00000375267.2	-	83	12315	c.12312G>A	c.(12310-12312)agG>agA	p.R4104R	UBR4_ENST00000375226.2_Silent_p.R4080R|UBR4_ENST00000375217.2_Silent_p.R4097R|UBR4_ENST00000375254.3_Silent_p.R4104R			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4104					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACTGTTTCCACCTCCACACAT	0.552000													116	124					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81579779	81579779	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:81579779G>A	ENST00000356860.3	-	39	3543	c.3205C>T	c.(3205-3207)Ctg>Ttg	p.L1069L	CACNA2D1_ENST00000535308.1_Silent_p.L281L|CACNA2D1_ENST00000356253.5_Silent_p.L1081L	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	1081						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)	ATATACCACAGGGAGGGATTT	0.363000													7	10					0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61414206	61414206	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:61414206G>A	ENST00000395348.3	-	5	1214	c.578C>T	c.(577-579)tCt>tTt	p.S193F	SLC16A9_ENST00000395347.1_Missense_Mutation_p.S193F	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	193					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						ACAATCAGAAGATTGGAGGGG	0.388000													6	50					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67806951	67806951	+	Splice_Site	SNP	A	A	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr18:67806951A>C	ENST00000255674.6	-	21	2958	c.2670_splice	c.e21-1	p.V891_splice	RTTN_ENST00000454359.1_Splice_Site_p.G861_splice|RTTN_ENST00000437017.1_Splice_Site_p.V891_splice	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	891							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ACATTCTACAACCTGGGCCAG	0.403000													18	23					0	0	1	0	0
LY6G6D	58530	broad.mit.edu	37	6	31675750	31675750	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:31675750G>A	ENST00000503322.1	+	3	488	c.485G>A	c.(484-486)gGg>gAg	p.G162E	XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000556581.1_Missense_Mutation_p.G162E|LY6G6F_ENST00000375832.4_Missense_Mutation_p.G162E																							TGGCAGGAAGGGAAGGGTCCC	0.627000													43	37					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106917019	106917019	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:106917019G>C	ENST00000369701.3	+	10	1833	c.1606G>C	c.(1606-1608)Gga>Cga	p.G536R		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	536						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGACCTGAGAGGAAGCCCAGT	0.567000													11	21					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564698	176564698	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:176564698G>A	ENST00000367662.3	+	3	3122	c.1958G>A	c.(1957-1959)cGc>cAc	p.R653H	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R653H	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	653	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCTGATGTGCGCAAGACCTGC	0.527000													7	51					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75017886	75017886	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:75017886G>A	ENST00000261978.4	-	7	1953	c.1567C>T	c.(1567-1569)Ctc>Ttc	p.L523F	LTBP2_ENST00000557425.1_5'UTR|LTBP2_ENST00000556690.1_Missense_Mutation_p.L523F	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	523					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTGTCCCAGAGGCTGTGGCCA	0.706000													31	3					0	0	1	0	0
PTX4	390667	broad.mit.edu	37	16	1536082	1536082	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:1536082C>T	ENST00000447419.2	-	3	1320	c.1295G>A	c.(1294-1296)cGg>cAg	p.R432Q	PTX4_ENST00000293922.1_Missense_Mutation_p.R427Q|PTX4_ENST00000440447.2_3'UTR			Q96A99	PTX4_HUMAN	pentraxin 4, long	432	Pentaxin.					extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						AACCAGCGCCCGATCCCAGAT	0.627000													44	39					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10469316	10469316	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:10469316C>T	ENST00000382483.3	-	4	2515	c.2292G>A	c.(2290-2292)ggG>ggA	p.G764G		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	764					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACCCCGCGTCCCCTGCCCACC	0.652000													64	66					0	0	1	0	0
MYL3	4634	broad.mit.edu	37	3	46899902	46899902	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:46899902C>T	ENST00000395869.1	-	5	582	c.531G>A	c.(529-531)gaG>gaA	p.E177E	MYL3_ENST00000292327.4_Silent_p.E177E			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	177	EF-hand 3.				cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		CATTGGAGTCCTCTTGCCCAG	0.617000													75	5					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5756944	5756944	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:5756944C>T	ENST00000327087.8	-	16	1640	c.1569G>A	c.(1567-1569)tgG>tgA	p.W523*	ANO2_ENST00000356134.5_Nonsense_Mutation_p.W524*|ANO2_ENST00000546188.1_Nonsense_Mutation_p.W524*|ANO2_ENST00000538154.1_5'UTR			Q9NQ90	ANO2_HUMAN	anoctamin 2	528						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AACGATCCTTCCAGGTCAGTT	0.428000													4	6					0	0	1	0	0
GOLGA1	2800	broad.mit.edu	37	9	127700867	127700867	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:127700867C>T	ENST00000373555.4	-	3	457	c.124G>A	c.(124-126)Gga>Aga	p.G42R		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	42						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						AAGTCATCTCCTGAGTCAGCT	0.403000													17	47					0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9325456	9325456	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:9325456C>T	ENST00000308682.2	-	1	86	c.58G>A	c.(58-60)Gat>Aat	p.D20N		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						AGTTCAGGATCATCTGAGAGT	0.507000													34	52					0	0	1	0	0
OR1F2P	26184	broad.mit.edu	37	16	3266155	3266155	+	RNA	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:3266155C>T	ENST00000576468.1	+	0	418																											GATGTGACTCCCCTCCTGAAA	0.532000													10	53					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508615	106508615	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:106508615G>A	ENST00000359195.3	+	2	919	c.609G>A	c.(607-609)acG>acA	p.T203T	PIK3CG_ENST00000440650.2_Silent_p.T203T|PIK3CG_ENST00000496166.1_Silent_p.T203T	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	203					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						CGTGGGTGACGTCCAAGCCCC	0.617000													29	125					0	0	1	0	0
MOXD1	26002	broad.mit.edu	37	6	132643979	132643979	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:132643979G>A	ENST00000367963.3	-	8	1262	c.1144C>T	c.(1144-1146)Cat>Tat	p.H382Y	MOXD1_ENST00000336749.3_Missense_Mutation_p.H314Y|MOXD1_ENST00000489128.1_5'UTR	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	382					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GCAAACACATGAATTCCACTT	0.463000													23	2					0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50464043	50464043	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:50464043C>T	ENST00000447370.2	-	2	316	c.226G>A	c.(226-228)Gga>Aga	p.G76R	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.G76R	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	76	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CTGGTCCGTCCTTTGAACCAG	0.607000													20	43					0	0	1	0	0
PGS1	9489	broad.mit.edu	37	17	76411042	76411042	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:76411042C>G	ENST00000262764.6	+	8	1511	c.1485C>G	c.(1483-1485)caC>caG	p.H495Q	PGS1_ENST00000588281.1_3'UTR|PGS1_ENST00000329897.7_Missense_Mutation_p.H360Q	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	495					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			GGTCAGTTCACCGGGACCTGG	0.607000													38	5					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55544848	55544848	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:55544848G>A	ENST00000436346.1	-	20	4295	c.3454C>T	c.(3454-3456)Ctc>Ttc	p.L1152F	CCDC88A_ENST00000413716.2_Missense_Mutation_p.L1151F|AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.L1151F|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.L1152F|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1152					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GAATCATAGAGAGATTTTAGG	0.383000													3	54					0	0	1	0	0
CCDC149	91050	broad.mit.edu	37	4	24875320	24875320	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:24875320G>A	ENST00000504487.1	-	3	253	c.247C>T	c.(247-249)Cct>Tct	p.P83S	CCDC149_ENST00000389609.4_Missense_Mutation_p.P83S|CCDC149_ENST00000428116.2_Missense_Mutation_p.P28S|CCDC149_ENST00000502801.1_Missense_Mutation_p.P83S	NM_001130726.2	NP_001124198.1	B4DZG3	B4DZG3_HUMAN	coiled-coil domain containing 149	83										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				CTTTTTTCAGGAGGAAGTGAT	0.333000													11	32					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167420156	167420156	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:167420156C>T	ENST00000519204.1	+	4	910	c.792C>T	c.(790-792)ctC>ctT	p.L264L	TENM2_ENST00000518659.1_Silent_p.L385L|TENM2_ENST00000545108.1_Silent_p.L385L|TENM2_ENST00000520394.1_Silent_p.L194L|TENM2_ENST00000403607.2_Silent_p.L218L					teneurin transmembrane protein 2																		CCGCGGCCCTCCTCTTGGCTA	0.537000													18	35					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8188379	8188379	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:8188379G>A	ENST00000600128.1	-	24	3465	c.3051C>T	c.(3049-3051)ttC>ttT	p.F1017F	FBN3_ENST00000601739.1_Silent_p.F1017F|FBN3_ENST00000270509.2_Silent_p.F1017F			Q75N90	FBN3_HUMAN	fibrillin 3	1017	EGF-like 12; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CATCCAGGGCGAAGCCCCCCG	0.597000													14	17					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	3991526	3991526	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:3991526G>T	ENST00000404826.2	+	7	1263	c.1124G>T	c.(1123-1125)aGg>aTg	p.R375M	SDK1_ENST00000389531.3_Missense_Mutation_p.R375M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	375	Ig-like C2-type 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GAACCGGCCAGGGCGACGGCC	0.587000													10	38					1.49906e-05	1.51051e-05	1	1	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256408	24256408	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:24256408C>T	ENST00000538205.1	+	10	1094	c.547C>T	c.(547-549)Caa>Taa	p.Q183*	RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000256412.4_Nonsense_Mutation_p.Q262*|ADAMDEC1_ENST00000522298.1_Nonsense_Mutation_p.Q183*|RP11-624C23.1_ENST00000523578.1_RNA	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	262					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CATAGATGTTCAAGTGGCCTT	0.428000													33	50					0	0	1	0	0
SPSB4	92369	broad.mit.edu	37	3	140866004	140866004	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:140866004G>A	ENST00000310546.2	+	3	1459	c.715G>A	c.(715-717)Gac>Aac	p.D239N	SPSB4_ENST00000507895.1_3'UTR	NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	239	SOCS box.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GCCACTGATGGACCTGTGCCG	0.627000													35	33					0	0	1	0	0
OR52K2	119774	broad.mit.edu	37	11	4471397	4471397	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:4471397C>T	ENST00000325719.4	+	1	873	c.828C>T	c.(826-828)atC>atT	p.I276I		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGTCCACATCCTCCTTGCCA	0.498000													79	100					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49225058	49225058	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:49225058C>T	ENST00000327979.2	-	11	1223	c.812G>A	c.(811-813)cGg>cAg	p.R271Q	FAM65C_ENST00000045083.2_Missense_Mutation_p.R271Q|FAM65C_ENST00000535356.1_Missense_Mutation_p.R275Q			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	271										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCCCAGGCCCCGCAACTCCGT	0.682000													103	120					0	0	1	0	0
APBB1	322	broad.mit.edu	37	11	6422613	6422613	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:6422613G>A	ENST00000389906.2	-	10	1649	c.1550C>T	c.(1549-1551)tCc>tTc	p.S517F	APBB1_ENST00000530885.1_Missense_Mutation_p.S295F|APBB1_ENST00000533407.1_3'UTR|APBB1_ENST00000311051.3_Missense_Mutation_p.S515F|APBB1_ENST00000299402.6_Missense_Mutation_p.S515F|APBB1_ENST00000524626.1_5'UTR	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	517					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)		GTGGTCCAGGGAGAGTCCATT	0.547000													33	50					0	0	1	0	0
MSH2	4436	broad.mit.edu	37	2	47656987	47656987	+	Nonsense_Mutation	SNP	C	C	T	rs63750302		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:47656987C>T	ENST00000406134.1	+	7	1245	c.1183C>T	c.(1183-1185)Caa>Taa	p.Q395*	MSH2_ENST00000233146.2_Nonsense_Mutation_p.Q395*|MSH2_ENST00000543555.1_Nonsense_Mutation_p.Q329*			P43246	MSH2_HUMAN	mutS homolog 2	395					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CAAGAAGTTTCAAAGACAAGC	0.378000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				57	15					0	0	1	0	0
RPF1	80135	broad.mit.edu	37	1	84961718	84961718	+	Silent	SNP	C	C	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:84961718C>A	ENST00000370654.5	+	7	868	c.853C>A	c.(853-855)Cgg>Agg	p.R285R		NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	285	Brix.				rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						CCACAATCAACGGGATTACAT	0.363000													18	61					1.9806e-07	2.00688e-07	1	1	0
NLRP8	126205	broad.mit.edu	37	19	56487552	56487552	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:56487552T>G	ENST00000291971.3	+	8	2830	c.2759T>G	c.(2758-2760)cTc>cGc	p.L920R	NLRP8_ENST00000590542.1_Missense_Mutation_p.L901R	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	920						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ATCTCTGCGCTCTGTAAAAAT	0.413000													29	33					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57233561	57233561	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:57233561G>A	ENST00000343433.6	-	5	1084	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	335								p.S335L(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TCTCAGATATGAAATTGTTGC	0.353000													31	75					0	0	1	0	0
PTGIS	5740	broad.mit.edu	37	20	48124592	48124592	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:48124592G>A	ENST00000244043.4	-	10	1397	c.1368C>T	c.(1366-1368)ttC>ttT	p.F456F	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	456					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	CCAGCACAAGGAACACAAATC	0.562000													18	86					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	122000994	122000994	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:122000994G>T	ENST00000265922.3	-	5	1085	c.624C>A	c.(622-624)gaC>gaA	p.D208E	DBC1_ENST00000373964.2_Missense_Mutation_p.D208E	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		208	MACPF.				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						AGTCCAGATTGTCATAGCTGT	0.502000													13	37					6.94344e-10	7.07013e-10	1	1	0
FGF10	2255	broad.mit.edu	37	5	44310584	44310584	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:44310584G>A	ENST00000264664.4	-	2	488	c.374C>T	c.(373-375)gCc>gTc	p.A125V		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	125					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					GCTGTTAATGGCTTTGACGGC	0.353000													5	2					0	0	1	0	0
NR2E1	7101	broad.mit.edu	37	6	108492756	108492756	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:108492756C>T	ENST00000368986.4	+	2	828	c.120C>T	c.(118-120)ttC>ttT	p.F40F	NR2E1_ENST00000368983.3_Silent_p.F77F	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	40					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CAGGTTTTTTCAAACGGAGCA	0.567000													148	17					0	0	1	0	0
PXN	5829	broad.mit.edu	37	12	120652670	120652670	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:120652670G>A	ENST00000397506.3	-	6	1725	c.672C>T	c.(670-672)ctC>ctT	p.L224L	PXN_ENST00000424649.2_Silent_p.L378L|PXN_ENST00000458477.2_Silent_p.L245L|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000228307.7_Silent_p.L412L|PXN_ENST00000267257.7_Silent_p.L426L|PXN_ENST00000536957.1_Silent_p.L410L			P49023	PAXI_HUMAN	paxillin	412					cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGGGGAGAAGAGGTTGTGGT	0.617000													38	51					0	0	1	0	0
NAA35	60560	broad.mit.edu	37	9	88631453	88631453	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:88631453G>A	ENST00000361671.5	+	18	1701		c.e18-1			NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit						smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						TATCCTTTAAGGTATCTCTCT	0.363000													21	27					0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25270530	25270530	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:25270530G>A	ENST00000400359.4	+	13	1447	c.1440G>A	c.(1438-1440)ccG>ccA	p.P480P	SGSM1_ENST00000400358.4_Intron	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	480						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CGCCAAGCCCGAAGGAGCAGC	0.632000													9	10					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7802714	7802714	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:7802714C>T	ENST00000380358.4	+	15	2575	c.2574C>T	c.(2572-2574)aaC>aaT	p.N858N	CHD3_ENST00000330494.7_Silent_p.N799N|CHD3_ENST00000358181.4_Silent_p.N799N	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	799	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCATCATTAACTGGGAGCGGG	0.537000													130	18					0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70562809	70562809	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:70562809G>T	ENST00000302516.5	+	3	315	c.104G>T	c.(103-105)gGg>gTg	p.G35V		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	35					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GTTTCCCGTGGGAAGATCTTG	0.478000													13	53					6.49762e-13	6.64415e-13	1	1	0
GPR158	57512	broad.mit.edu	37	10	25887683	25887683	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:25887683C>T	ENST00000376351.3	+	11	3487	c.3128C>T	c.(3127-3129)tCc>tTc	p.S1043F	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1043						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						CCCACTTTTTCCTTAAAGGAG	0.453000													16	9					0	0	1	0	0
GLYAT	10249	broad.mit.edu	37	11	58491917	58491917	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:58491917A>G	ENST00000344743.3	-	2	194	c.53T>C	c.(52-54)tTg>tCg	p.L18S	GLYAT_ENST00000529732.1_Missense_Mutation_p.L18S|GLYAT_ENST00000278400.3_Missense_Mutation_p.L18S	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	18					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GCTCTTCCTCAAGGATTTCTC	0.443000													18	13					0	0	1	0	0
GFOD1	54438	broad.mit.edu	37	6	13365276	13365276	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:13365276G>A	ENST00000379287.3	-	2	1536	c.872C>T	c.(871-873)cCg>cTg	p.P291L	GFOD1_ENST00000379284.1_Missense_Mutation_p.P188L	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	291						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			GGCCTTCTCCGGAAGCAGGGA	0.697000													27	83					0	0	1	0	0
MLXIP	22877	broad.mit.edu	37	12	122614161	122614161	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:122614161C>T	ENST00000319080.6	+	5	855	c.723C>T	c.(721-723)ctC>ctT	p.L241L				Q9HAP2	MLXIP_HUMAN	MLX interacting protein	241	Required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		ATGAGGACCTCTCCAGCCTGG	0.602000													4	15					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71825755	71825755	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:71825755C>T	ENST00000258104.3	+	33	3859	c.3582C>T	c.(3580-3582)acC>acT	p.T1194T	DYSF_ENST00000394120.2_Silent_p.T1195T|DYSF_ENST00000429174.2_Silent_p.T1194T|DYSF_ENST00000409366.1_Silent_p.T1195T|DYSF_ENST00000409582.3_Silent_p.T1211T|DYSF_ENST00000413539.2_Silent_p.T1225T|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410020.3_Silent_p.T1212T|DYSF_ENST00000409744.1_Silent_p.T1181T|DYSF_ENST00000410041.1_Silent_p.T1212T|DYSF_ENST00000409651.1_Silent_p.T1226T|DYSF_ENST00000409762.1_Silent_p.T1211T	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1194	C2 4.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGAAGAACACCCTTAACCCCA	0.602000													48	16					0	0	1	0	0
EVA1A	84141	broad.mit.edu	37	2	75745252	75745252	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:75745252G>A	ENST00000233712.1	-	3	452	c.15C>T	c.(13-15)ctC>ctT	p.L5L	EVA1A_ENST00000490746.1_5'UTR|EVA1A_ENST00000393913.3_Silent_p.L5L|EVA1A_ENST00000410113.1_Silent_p.L5L|EVA1A_ENST00000410071.1_Silent_p.L5L	NM_032181.2	NP_115557.1			eva-1 homolog A (C. elegans)																		GGCTGTGGCTGAGGGGCAGCC	0.567000													5	49					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6661491	6661491	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:6661491G>A	ENST00000299441.3	-	2	1765	c.1354C>T	c.(1354-1356)Ctg>Ttg	p.L452L		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	452	Cadherin 4.				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)		TCAGCCCGCAGTGGAGGTGAG	0.592000													6	10					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7585571	7585571	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:7585571G>A	ENST00000379802.3	+	24	8417	c.8076G>A	c.(8074-8076)caG>caA	p.Q2692Q	DSP_ENST00000418664.2_Silent_p.Q2093Q	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2692	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGCCTGCTCAGAAAGCCTTCA	0.557000													58	102					0	0	1	0	0
POFUT2	23275	broad.mit.edu	37	21	46687372	46687372	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr21:46687372G>A	ENST00000331343.7	-	8	1295	c.1269C>T	c.(1267-1269)ctC>ctT	p.L423L	POFUT2_ENST00000471540.1_Intron|POFUT2_ENST00000349485.5_Intron	NM_015227.4	NP_056042.1	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	0					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)		AGACTCAGACGAGGAGGCAAA	0.493000													17	63					0	0	1	0	0
CCND2	894	broad.mit.edu	37	12	4383338	4383338	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:4383338C>T	ENST00000261254.3	+	1	401	c.132C>T	c.(130-132)ttC>ttT	p.F44F	RP11-264F23.3_ENST00000539135.1_RNA|RP11-264F23.4_ENST00000537370.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	44	Cyclin N-terminal.				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			GCTCCTACTTCAAGTGCGTGC	0.652000			T	IGL@	"""NHL,CLL"""								50	55					0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78922179	78922179	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:78922179C>T	ENST00000261751.3	-	5	579	c.468G>A	c.(466-468)gaG>gaA	p.E156E	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	156					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						AGTACTTCACCTCAATCTTGC	0.562000													45	4					0	0	1	0	0
ACTN3	89	broad.mit.edu	37	11	66330268	66330268	+	RNA	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:66330268G>A	ENST00000513398.1	+	0	2487				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						TCCCTGCAGGGGGAAGTGGAG	0.602000													83	164					0	0	1	0	0
KIF3C	3797	broad.mit.edu	37	2	26203522	26203522	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:26203522G>A	ENST00000264712.3	-	1	1844	c.1265C>T	c.(1264-1266)cCt>cTt	p.P422L	KIF3C_ENST00000405914.1_Missense_Mutation_p.P422L	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	422					blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGGCCCTCAGGGTACCCAGG	0.662000													82	13					0	0	1	0	0
HNRNPR	10236	broad.mit.edu	37	1	23664332	23664332	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:23664332C>T	ENST00000374612.1	-	4	422	c.299G>A	c.(298-300)gGa>gAa	p.G100E	HNRNPR_ENST00000606561.1_5'UTR|HNRNPR_ENST00000427764.2_Missense_Mutation_p.G100E|HNRNPR_ENST00000478691.1_5'UTR|HNRNPR_ENST00000426846.2_5'UTR|HNRNPR_ENST00000374616.3_Missense_Mutation_p.G100E|HNRNPR_ENST00000302271.6_Missense_Mutation_p.G100E	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	100	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		CTTCATAACTCCACATAAAAA	0.363000													55	39					0	0	1	0	0
ARRB1	408	broad.mit.edu	37	11	74983964	74983964	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:74983964C>T	ENST00000420843.2	-	12	1070	c.973G>A	c.(973-975)Gtg>Atg	p.V325M	ARRB1_ENST00000393505.4_Missense_Mutation_p.V325M|ARRB1_ENST00000360025.3_Missense_Mutation_p.V325M	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	325	Interaction with TRAF6.				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						ACCAGCTTCACTTTCACTTTG	0.622000													20	39					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31215761	31215761	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:31215761T>G	ENST00000349752.5	-	2	881	c.242A>C	c.(241-243)cAg>cCg	p.Q81P	GALNT14_ENST00000406653.1_Missense_Mutation_p.Q61P|GALNT14_ENST00000356174.3_Missense_Mutation_p.Q81P|GALNT14_ENST00000420311.2_Missense_Mutation_p.Q46P|GALNT14_ENST00000324589.5_Intron	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	81						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					ACTCTCCCGCTGGTTGAAAGC	0.567000													109	27					0	0	1	0	0
TTC24	164118	broad.mit.edu	37	1	156552955	156552955	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:156552955G>A	ENST00000368236.3	+	4	1068	c.1032G>A	c.(1030-1032)cgG>cgA	p.R344R	TTC24_ENST00000495690.1_3'UTR|TTC24_ENST00000368237.3_Silent_p.R344R	NM_001105669.2	NP_001099139.2	A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	344							binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGCTGCCCGGGACTCTGGTA	0.647000													55	46					0	0	1	0	0
SLC35E3	55508	broad.mit.edu	37	12	69140394	69140394	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:69140394C>T	ENST00000398004.2	+	1	509	c.237C>T	c.(235-237)ctC>ctT	p.L79L		NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	79	Poly-Leu.					integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			GGCTCCTCCTCCTGGCCCTCA	0.577000													24	35					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161528978	161528978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:161528978G>A	ENST00000392142.4	+	21	4244	c.4096G>A	c.(4096-4098)Ggg>Agg	p.G1366R	MAP3K4_ENST00000366919.2_Missense_Mutation_p.G1316R|MAP3K4_ENST00000366920.2_Missense_Mutation_p.G1362R|MAP3K4_ENST00000348824.7_Missense_Mutation_p.G1312R	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1366	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CGTCGACACCGGGGAGCTGAT	0.577000													12	41					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168352612	168352612	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:168352612C>T	ENST00000366806.2	+	30	4699	c.4557C>T	c.(4555-4557)gaC>gaT	p.D1519D	MLLT4_ENST00000447894.2_Silent_p.D1519D|MLLT4_ENST00000344191.4_Silent_p.D1519D|MLLT4_ENST00000392108.3_Silent_p.D1519D|MLLT4_ENST00000400822.3_Silent_p.D1518D|MLLT4_ENST00000392112.1_Silent_p.D1502D|MLLT4_ENST00000351017.4_Silent_p.D1526D			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1519					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GGAAGCGGGACGCCAAGGAGA	0.612000			T	MLL	AL								11	24					0	0	1	0	0
FOXK1	221937	broad.mit.edu	37	7	4780636	4780636	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:4780636C>T	ENST00000328914.4	+	2	728	c.728C>T	c.(727-729)tCc>tTc	p.S243F	FOXK1_ENST00000446823.1_Missense_Mutation_p.S80F	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	243					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion 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	p.S243F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CCCGTCCCCTCCCCGACGGGC	0.701000													30	13					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41551479	41551479	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:41551479C>T	ENST00000396942.1	-	29	3552	c.3469G>A	c.(3469-3471)Gac>Aac	p.D1157N	ANK1_ENST00000379758.2_Missense_Mutation_p.D1157N|ANK1_ENST00000289734.7_Missense_Mutation_p.D1157N|ANK1_ENST00000265709.8_Missense_Mutation_p.D1198N|ANK1_ENST00000352337.4_Missense_Mutation_p.D1157N|ANK1_ENST00000396945.1_Missense_Mutation_p.D1157N|ANK1_ENST00000347528.4_Missense_Mutation_p.D1157N			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1157					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTCGGGTTGTCGGTCCAGGAA	0.657000													24	39					0	0	1	0	0
ACKR2	1238	broad.mit.edu	37	3	42906432	42906432	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:42906432C>T	ENST00000422265.1	+	3	613	c.438C>T	c.(436-438)atC>atT	p.I146I	CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Silent_p.I146I|ACKR2_ENST00000471537.1_Intron|ACKR2_ENST00000442925.1_Silent_p.I146I|KRBOX1_ENST00000426937.1_Intron	NM_001296.4	NP_001287.2			atypical chemokine receptor 2																		ACCTGGAGATCGTTCATGCTC	0.507000													59	11					0	0	1	0	0
NAT2	10	broad.mit.edu	37	8	18257755	18257755	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:18257755C>T	ENST00000286479.3	+	2	349	c.242C>T	c.(241-243)aCa>aTa	p.T81I	NAT2_ENST00000520116.1_Intron	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	81					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		GCTCTGACCACAATCGGTTTT	0.463000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				18	74					0	0	1	0	0
ARSG	22901	broad.mit.edu	37	17	66416533	66416533	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:66416533T>C	ENST00000448504.2	+	12	2303	c.1507T>C	c.(1507-1509)Tac>Cac	p.Y503H	RP11-120M18.2_ENST00000592030.1_RNA|ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Missense_Mutation_p.Y339H	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	503					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGCGCAGATTACACTCAGGA	0.527000													124	157					0	0	1	0	0
SLC17A9	63910	broad.mit.edu	37	20	61594944	61594944	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:61594944T>C	ENST00000370349.3	+	8	920	c.716T>C	c.(715-717)gTc>gCc	p.V239A	SLC17A9_ENST00000370351.4_Missense_Mutation_p.V245A|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	245					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						AGGGCAGCCGTCGTCTCCCAG	0.697000													5	25					0	0	1	0	0
CCDC38	120935	broad.mit.edu	37	12	96300182	96300182	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:96300182C>T	ENST00000344280.3	-	5	909	c.352G>A	c.(352-354)Gac>Aac	p.D118N		NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	118										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGAAACCTGTCTCTCTGGTCA	0.353000													20	23					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153914354	153914354	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:153914354G>A	ENST00000361217.4	-	6	1464	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	349	DENN.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CGCTTCCAAGGGTAGGCGGTG	0.632000													38	71					0	0	1	0	0
FAR1	84188	broad.mit.edu	37	11	13736178	13736178	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:13736178C>T	ENST00000354817.3	+	9	1222	c.1078C>T	c.(1078-1080)Cca>Tca	p.P360S	FAR1_ENST00000527202.1_3'UTR	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	360					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						CCATAAGGCCCCAGCATTCCT	0.448000													12	14					0	0	1	0	0
DTX2	113878	broad.mit.edu	37	7	76112102	76112102	+	Silent	SNP	G	G	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:76112102G>T	ENST00000324432.5	+	5	1056	c.546G>T	c.(544-546)gtG>gtT	p.V182V	DTX2_ENST00000446820.2_Silent_p.V182V|DTX2_ENST00000307569.8_Silent_p.V182V|DTX2_ENST00000446600.1_Silent_p.V91V|DTX2_ENST00000413936.2_Silent_p.V182V|DTX2_ENST00000430490.2_Silent_p.V182V	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	182					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CTTACCCGGTGACCACCATCA	0.652000													14	27					2.31682e-05	2.33128e-05	1	1	0
DOCK11	139818	broad.mit.edu	37	X	117786037	117786037	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:117786037G>A	ENST00000276204.6	+	42	4766	c.4692G>A	c.(4690-4692)atG>atA	p.M1564I	DOCK11_ENST00000276202.7_Missense_Mutation_p.M1564I			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1564	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						ACAGACCTATGAAGGTATGTT	0.343000													19	0					0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	658005	658005	+	Silent	SNP	C	C	T	rs144847778		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:658005C>T	ENST00000255622.6	+	17	2167	c.2124C>T	c.(2122-2124)atC>atT	p.I708I	PDE6B_ENST00000429163.2_Silent_p.I429I|PDE6B_ENST00000496514.1_Silent_p.I708I	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	708					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GGAAGGAGATCGTCATGTGAG	0.622000													27	56					0	0	1	0	0
SOHLH2	54937	broad.mit.edu	37	13	36748880	36748880	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:36748880G>A	ENST00000379881.3	-	7	856	c.768C>T	c.(766-768)atC>atT	p.I256I	CCDC169-SOHLH2_ENST00000511166.1_Silent_p.I333I|SOHLH2_ENST00000554962.1_Silent_p.I333I	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CGGCTGGAGAGATTTTCTCCC	0.373000													19	51					0	0	1	0	0
CHRAC1	54108	broad.mit.edu	37	8	141525238	141525238	+	Missense_Mutation	SNP	G	G	A	rs140626835		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:141525238G>A	ENST00000519533.1	+	2	350	c.161G>A	c.(160-162)aGa>aAa	p.R54K	CHRAC1_ENST00000220913.5_Silent_p.K96K			Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1	0					chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			TATTACCAAAGAAGATTTTAG	0.343000													43	68					0	0	1	0	0
RABL3	285282	broad.mit.edu	37	3	120417383	120417383	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:120417383G>A	ENST00000273375.3	-	5	450	c.421C>T	c.(421-423)Cca>Tca	p.P141S	RABL3_ENST00000483733.1_Missense_Mutation_p.P141S|RABL3_ENST00000491398.1_5'UTR	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	141	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		ACCAACAGTGGTATTTGGTTA	0.368000													175	237					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31592981	31592981	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:31592981C>T	ENST00000376033.2	+	6	731	c.497C>T	c.(496-498)tCt>tTt	p.S166F	PRRC2A_ENST00000469577.1_3'UTR|PRRC2A_ENST00000376007.4_Missense_Mutation_p.S166F	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	166	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TCACGATTCTCTCGAGAGGAA	0.552000													59	61					0	0	1	0	0
UBP1	7342	broad.mit.edu	37	3	33451019	33451019	+	Silent	SNP	A	A	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:33451019A>T	ENST00000283629.3	-	6	1159	c.630T>A	c.(628-630)gtT>gtA	p.V210V	UBP1_ENST00000447368.2_Silent_p.V210V|UBP1_ENST00000283628.5_Silent_p.V210V	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	210					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TAAAGGTGTCAACCTGGATCC	0.438000													49	5					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13715923	13715923	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:13715923C>T	ENST00000279593.3	-	13	4458	c.4249G>A	c.(4249-4251)Gcc>Acc	p.A1417T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1417					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCCGGCCTGGCTTTCGACGCC	0.607000													11	12					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90501596	90501596	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:90501596G>A	ENST00000325643.5	+	4	2260	c.2194G>A	c.(2194-2196)Gaa>Aaa	p.E732K		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		GGCTCTGGACGAAGACAAGGA	0.557000													11	25					0	0	1	0	0
WEE2	494551	broad.mit.edu	37	7	141419018	141419018	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:141419018G>A	ENST00000397541.2	+	4	1138	c.732G>A	c.(730-732)atG>atA	p.M244I	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	244	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					AGCGCTCTATGAAAACTTTTA	0.323000													11	32					0	0	1	0	0
GDF3	9573	broad.mit.edu	37	12	7842962	7842962	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:7842962C>T	ENST00000329913.3	-	2	654	c.607G>A	c.(607-609)Gag>Aag	p.E203K		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	203					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	p.E203K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						ACCAGTATCTCCAGGAATAAC	0.502000													31	51					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3267006	3267006	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:3267006C>T	ENST00000520002.1	-	14	2241	c.1686G>A	c.(1684-1686)ggG>ggA	p.G562G	CSMD1_ENST00000542608.1_Silent_p.G561G|CSMD1_ENST00000539096.1_Silent_p.G561G|CSMD1_ENST00000537824.1_Silent_p.G561G|CSMD1_ENST00000602723.1_Silent_p.G562G|CSMD1_ENST00000400186.3_Silent_p.G562G|CSMD1_ENST00000602557.1_Silent_p.G562G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	562	Sushi 3.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TAACTCTCTCCCCCACCAGCT	0.562000													14	19					0	0	1	0	0
C1orf105	92346	broad.mit.edu	37	1	172434497	172434497	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:172434497C>T	ENST00000367727.4	+	6	598	c.400C>T	c.(400-402)Cca>Tca	p.P134S	C1orf105_ENST00000367725.4_Missense_Mutation_p.P124S|C1orf105_ENST00000367726.1_3'UTR	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	134										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						TGATGACATCCCAACAGGTTT	0.353000													21	20					0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134989114	134989114	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:134989114G>A	ENST00000535938.1	+	8	933	c.766G>A	c.(766-768)Gag>Aag	p.E256K	SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000324447.3_Missense_Mutation_p.E256K|SAGE1_ENST00000370709.3_Missense_Mutation_p.E256K	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	256										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TGTCCCTGAGGAGAAGATGGA	0.473000													55	6					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166189	19166189	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:19166189G>A	ENST00000375371.3	-	6	2445	c.2424C>T	c.(2422-2424)ttC>ttT	p.F808F		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	808					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)	ACTTGGGGCCGAAGTAGCCCA	0.597000													21	44					0	0	1	0	0
RP11-691N7.6	0	broad.mit.edu	37	11	57509641	57509641	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:57509641C>T	ENST00000531074.1	+	1	7	c.7C>T	c.(7-9)Ccc>Tcc	p.P3S	C11orf31_ENST00000534355.1_Silent_p.F107F|C11orf31_ENST00000388857.4_Silent_p.F107F|TMX2-CTNND1_ENST00000528395.1_Intron																							AACTCAAATTCCCTGAGCCTC	0.527000													4	9					0	0	1	0	0
HSPD1	3329	broad.mit.edu	37	2	198353814	198353814	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:198353814T>C	ENST00000388968.3	-	9	1394	c.1127A>G	c.(1126-1128)gAg>gGg	p.E376G	HSPD1_ENST00000345042.2_Missense_Mutation_p.E376G	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	376					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			ATCTAACTGCTCAATGATTTC	0.388000													5	52					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19193608	19193608	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:19193608C>T	ENST00000328041.6	+	1	319	c.122C>T	c.(121-123)tCg>tTg	p.S41L	RP11-97N19.2_ENST00000446849.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	41						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGGTCGCTGTCGAGCCTGCGA	0.766000													5	17					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17279938	17279938	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:17279938G>A	ENST00000375541.5	+	21	3217	c.3148G>A	c.(3148-3150)Gac>Aac	p.D1050N	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1050					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCAGGAGCGCGACGAGGGCCT	0.652000													19	33					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183650253	183650253	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:183650253A>C	ENST00000511685.1	+	14	2627	c.2504A>C	c.(2503-2505)aAa>aCa	p.K835T	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.K835T					teneurin transmembrane protein 3																		CAAGCTGCCAAATCCTTTTAT	0.448000													30	21					0	0	1	0	0
FKBP6	8468	broad.mit.edu	37	7	72744236	72744236	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:72744236G>A	ENST00000252037.4	+	4	418	c.349G>A	c.(349-351)Gcc>Acc	p.A117T	FKBP6_ENST00000431982.2_Missense_Mutation_p.A112T|FKBP6_ENST00000413573.2_Missense_Mutation_p.A87T	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	117	PPIase FKBP-type.				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				ACCGAACTACGCCTATGGAAC	0.532000													35	76					0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110168821	110168821	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:110168821C>T	ENST00000256578.3	+	4	915	c.555C>T	c.(553-555)ttC>ttT	p.F185F	AMPD2_ENST00000393688.3_Silent_p.F66F|AMPD2_ENST00000528454.1_Silent_p.F67F|AMPD2_ENST00000342115.4_Silent_p.F104F|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000358729.4_Silent_p.F110F|AMPD2_ENST00000528667.1_Silent_p.F185F	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	185					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGCAAGATTTCCTGAAGACGG	0.632000													21	49					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs138265355	by1000genomes	TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532000													6	180					0	0	1	0	0
KLK13	26085	broad.mit.edu	37	19	51563062	51563062	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:51563062C>T	ENST00000596955.1	-	3	574	c.528G>A	c.(526-528)tgG>tgA	p.W176*	KLK13_ENST00000335422.3_Intron|KLK13_ENST00000595793.1_Intron|KLK13_ENST00000595547.1_Intron			Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	0	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GGGCCTCAGGCCACCTGTGTG	0.552000													21	35					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28662324	28662324	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr18:28662324C>A	ENST00000280904.6	-	9	1586	c.1143G>T	c.(1141-1143)aaG>aaT	p.K381N	DSC2_ENST00000251081.6_Missense_Mutation_p.K381N	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	381	Cadherin 3.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TCACTAAGTCCTTATCCTCAA	0.318000													17	26					1.55795e-14	1.59645e-14	1	1	0
PKIA	5569	broad.mit.edu	37	8	79514046	79514046	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:79514046C>T	ENST00000396418.2	+	4	707	c.221C>T	c.(220-222)tCt>tTt	p.S74F	PKIA_ENST00000518467.1_Missense_Mutation_p.S74F|PKIA_ENST00000352966.5_Missense_Mutation_p.S74F	NM_006823.3|NM_181839.2	NP_006814.1|NP_862822.1	P61925	IPKA_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor alpha	74							cAMP-dependent protein kinase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6						GCAGCAAAATCTGAAAGCTAA	0.433000													9	15					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10448788	10448788	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:10448788T>C	ENST00000245503.5	-	5	764	c.380A>G	c.(379-381)aAc>aGc	p.N127S	MYH2_ENST00000532183.1_Missense_Mutation_p.N127S|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.N127S	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	127	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						CTTGTAGGGGTTGACAGTGAC	0.473000													48	7					0	0	1	0	0
FGF1	2246	broad.mit.edu	37	5	141993609	141993609	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:141993609G>A	ENST00000359370.6	-	2	163	c.84C>T	c.(82-84)ctC>ctT	p.L28L	FGF1_ENST00000407758.1_Silent_p.L28L|FGF1_ENST00000337706.2_Silent_p.L28L|FGF1_ENST00000419524.2_Silent_p.L28L|AC005592.2_ENST00000414314.1_RNA|AC005592.2_ENST00000443800.1_RNA|FGF1_ENST00000378046.1_Silent_p.L28L|FGF1_ENST00000494579.1_Intron|FGF1_ENST00000360966.5_Silent_p.L28L	NM_000800.4|NM_001144892.2|NM_001144934.1|NM_001144935.1|NM_001257205.1|NM_001257206.1|NM_001257207.1|NM_001257210.1|NM_001257212.1|NM_033137.2	NP_000791.1|NP_001138364.1|NP_001138406.1|NP_001138407.1|NP_001244134.1|NP_001244135.1|NP_001244136.1|NP_001244139.1|NP_001244141.1|NP_149128.1	P05230	FGF1_HUMAN	fibroblast growth factor 1 (acidic)	28					angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter	cell cortex|cytosol|extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding			large_intestine(1)|lung(2)	3		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Pentosan Polysulfate(DB00686)	TACAGTAGAGGAGTTTGGGCT	0.557000													33	11					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85449926	85449926	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:85449926A>T	ENST00000393217.2	+	8	1416	c.1355A>T	c.(1354-1356)gAt>gTt	p.D452V		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	452										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAAAATGTAGATAGACAGACT	0.299000													15	14					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179425152	179425152	+	Silent	SNP	A	A	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:179425152A>G	ENST00000589042.1	-	326	85931	c.85707T>C	c.(85705-85707)ctT>ctC	p.L28569L	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.L26001L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.L19629L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.L19504L|TTN_ENST00000342175.6_Silent_p.L19696L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Silent_p.L26928L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26928	Ig-like 132.						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)			TTGACCAGCAAAGTGTCATAG	0.413000													17	2					0	0	1	0	0
CCDC146	57639	broad.mit.edu	37	7	76885817	76885817	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:76885817C>T	ENST00000285871.4	+	6	802	c.675C>T	c.(673-675)gtC>gtT	p.V225V	CCDC146_ENST00000431197.1_5'UTR|AC073635.5_ENST00000476561.2_RNA	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	225										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				GACATCAGGTCGTCCTAAAGG	0.353000													28	46					0	0	1	0	0
ZBTB9	221504	broad.mit.edu	37	6	33423089	33423089	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:33423089C>T	ENST00000395064.2	+	2	480	c.212C>T	c.(211-213)cCt>cTt	p.P71L		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	71	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						GCTGCCTCTCCTTACTTCCAT	0.557000													91	345					0	0	1	0	0
PLA2G2C	391013	broad.mit.edu	37	1	20490512	20490512	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:20490512C>T	ENST00000429261.2	-	4	482	c.422G>A	c.(421-423)aGg>aAg	p.R141K	PLA2G2C_ENST00000495760.2_Intron|PLA2G2C_ENST00000247992.5_Missense_Mutation_p.R142K					phospholipase A2, group IIC											NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)	7		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCTGCCACACCTGGGCTGGCT	0.547000													9	8					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40939481	40939481	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:40939481C>T	ENST00000246914.5	+	7	1683	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	554					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCAGTGTCTTCCCCCCTGAGC	0.607000													131	16					0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14577751	14577751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:14577751C>T	ENST00000544627.1	+	2	1246	c.926C>T	c.(925-927)cCt>cTt	p.P309L	ATF7IP_ENST00000543189.1_Missense_Mutation_p.P301L|ATF7IP_ENST00000261168.4_Missense_Mutation_p.P301L|ATF7IP_ENST00000540793.1_Missense_Mutation_p.P301L|ATF7IP_ENST00000536444.1_Missense_Mutation_p.P301L|ATF7IP_ENST00000541654.1_3'UTR			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	301					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GAACCAGTTCCTGAAATTGAC	0.383000													18	38					0	0	1	0	0
CDK10	8558	broad.mit.edu	37	16	89759817	89759817	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:89759817C>T	ENST00000331006.8	+	7	2150	c.409C>T	c.(409-411)Ctg>Ttg	p.L137L	CDK10_ENST00000353379.7_Silent_p.L184L|CDK10_ENST00000505473.1_Silent_p.L113L			Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	184	Protein kinase.				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		GGATTTCGGCCTGGCCCGGGC	0.607000													40	82					0	0	1	0	0
IGKV1-5	28299	broad.mit.edu	37	2	89247062	89247062	+	RNA	SNP	A	A	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:89247062A>G	ENST00000496168.1	-	0	288																											TGTCTCCTACAGATGCAGACA	0.468000													8	133					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157497674	157497674	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:157497674G>A	ENST00000361835.3	-	9	1850	c.1693C>T	c.(1693-1695)Cgc>Tgc	p.R565C	FCRL5_ENST00000368190.3_Missense_Mutation_p.R565C|FCRL5_ENST00000368191.3_Missense_Mutation_p.R480C|FCRL5_ENST00000356953.4_Missense_Mutation_p.R565C	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	565						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)				AGGATGGGGCGAGACACTGGA	0.522000													21	69					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49448490	49448490	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:49448490T>C	ENST00000374201.3	-	6	915	c.613A>G	c.(613-615)Aga>Gga	p.R205G	FRMPD2_ENST00000305531.3_Missense_Mutation_p.R181G|FRMPD2_ENST00000407470.4_Missense_Mutation_p.R174G	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	205					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)		AGGTAGCTTCTGTTCTGCTGC	0.582000													4	36					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52359642	52359642	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:52359642G>A	ENST00000356297.4	-	12	1547	c.1447C>T	c.(1447-1449)Caa>Taa	p.Q483*	PXDNL_ENST00000543296.1_Nonsense_Mutation_p.Q483*	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	483	Ig-like C2-type 3.				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)				TATTGGCCTTGATCGTGCTGT	0.468000													126	182					0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49772339	49772339	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:49772339C>T	ENST00000492622.2	+	22	3017	c.2712C>T	c.(2710-2712)tcC>tcT	p.S904S	FNDC3A_ENST00000541916.1_Silent_p.S904S|FNDC3A_ENST00000398316.3_Silent_p.S848S	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	904	Fibronectin type-III 7.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		ATAAACAATCCCTAACAGTGG	0.373000													36	81					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94159576	94159576	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:94159576C>T	ENST00000282020.4	+	8	1438	c.1180C>T	c.(1180-1182)Ccc>Tcc	p.P394S	GRID2_ENST00000510992.1_Missense_Mutation_p.P299S	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	394					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)	TGGAGGCAATCCCAATGTCCA	0.403000													31	27					0	0	1	0	0
FILIP1L	11259	broad.mit.edu	37	3	99569252	99569252	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:99569252C>T	ENST00000331335.5	-	5	1738	c.1268G>A	c.(1267-1269)aGa>aAa	p.R423K	FILIP1L_ENST00000383694.2_Missense_Mutation_p.R183K|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_5'UTR|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.R423K|FILIP1L_ENST00000471562.1_Missense_Mutation_p.R183K	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	423						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						AGCCATAATTCTTTTACTGAG	0.363000													6	33					0	0	1	0	0
FADS3	3995	broad.mit.edu	37	11	61643878	61643878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:61643878G>A	ENST00000278829.2	-	9	1185	c.1033C>T	c.(1033-1035)Ccc>Tcc	p.P345S	FADS3_ENST00000525588.1_Missense_Mutation_p.P317S|FADS3_ENST00000540820.1_3'UTR|FADS3_ENST00000527697.1_Missense_Mutation_p.P221S	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	345					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ATCTCCTTGGGGATGTGGTTC	0.652000													24	88					0	0	1	0	0
AMBN	258	broad.mit.edu	37	4	71472162	71472162	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:71472162C>T	ENST00000322937.6	+	13	1162	c.1059C>T	c.(1057-1059)ctC>ctT	p.L353L	AMBN_ENST00000449493.2_Silent_p.L338L	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	353					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			ACGCAGGGCTCCTTGCTCTCC	0.592000													12	15					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35957469	35957469	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:35957469G>A	ENST00000274278.3	-	5	1253	c.896C>T	c.(895-897)gCc>gTc	p.A299V	UGT3A1_ENST00000503189.1_Missense_Mutation_p.A299V|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.A265V	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	299						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAGCCAAAGGCCACAAGGAC	0.493000													33	10					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10940945	10940945	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:10940945C>T	ENST00000314646.5	+	20	2598	c.2434C>T	c.(2434-2436)Cgg>Tgg	p.R812W	DNM2_ENST00000585892.1_Missense_Mutation_p.R812W|DNM2_ENST00000389253.4_Missense_Mutation_p.R812W|DNM2_ENST00000359692.6_Missense_Mutation_p.R808W|DNM2_ENST00000355667.6_Missense_Mutation_p.R812W|DNM2_ENST00000408974.4_Missense_Mutation_p.R808W			P50570	DYN2_HUMAN	dynamin 2	812	Pro-rich.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	p.R808R(1)|p.R812R(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			AATCCCATCCCGGCCTGGACC	0.697000			"""F, N, Splice, Mis, O"""		ETP ALL								68	132					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39262110	39262110	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:39262110C>T	ENST00000391415.1	+	1	527	c.470C>T	c.(469-471)tCc>tTc	p.S157F		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	157	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						tgcagcatctccagctgctgc	0.657000													12	5					0	0	1	0	0
AKR1C4	1109	broad.mit.edu	37	10	5238831	5238831	+	Translation_Start_Site	SNP	A	A	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:5238831A>G	ENST00000380448.1	+	3	254	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	AKR1CL1_ENST00000445191.1_Intron|AKR1C4_ENST00000263126.1_Start_Codon_SNP_p.M1V			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	1					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	GTGGCAAGCAATGGATCCCAA	0.443000													40	58					0	0	1	0	0
XPR1	9213	broad.mit.edu	37	1	180756945	180756945	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:180756945C>T	ENST00000367590.4	+	3	376	c.178C>T	c.(178-180)Caa>Taa	p.Q60*	XPR1_ENST00000367589.3_Nonsense_Mutation_p.Q60*	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	60	SPX.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GAAGTTTTTCCAAACCTGTGA	0.343000													55	44					0	0	1	0	0
PAFAH2	5051	broad.mit.edu	37	1	26301045	26301045	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:26301045G>A	ENST00000374282.3	-	9	1034	c.855C>T	c.(853-855)ttC>ttT	p.F285F	PAFAH2_ENST00000374284.1_Silent_p.F285F	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	285					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		CCATTGTCTGGAATTTCTCAG	0.473000													15	39					0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37626042	37626042	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:37626042A>T	ENST00000434837.2	-	3	1539	c.361T>A	c.(361-363)Tcc>Acc	p.S121T	MDGA1_ENST00000505425.1_Missense_Mutation_p.S121T|MDGA1_ENST00000297153.7_Missense_Mutation_p.S121T	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	121	Ig-like 1.				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						ACGCGGATGGACTTGATGGCC	0.682000													11	9					0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7244123	7244123	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:7244123C>T	ENST00000542285.1	-	2	302	c.153G>A	c.(151-153)acG>acA	p.T51T				P00736	C1R_HUMAN	complement component 1, r subcomponent	52	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					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)	CCCTGTATCCCGTGGGGACTG	0.532000													4	8					0	0	1	0	0
MIR513A2	574510	broad.mit.edu	37	X	146307386	146307386	+	RNA	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:146307386G>A	ENST00000385249.1	-	0	84					NR_030232.1																						acccttctcagaaaggtgaaa	0.478000													25	2					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6661492	6661492	+	Silent	SNP	T	T	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:6661492T>A	ENST00000299441.3	-	2	1764	c.1353A>T	c.(1351-1353)ccA>ccT	p.P451P		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	451	Cadherin 4.				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)		CAGCCCGCAGTGGAGGTGAGC	0.592000													6	10					0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50351074	50351074	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:50351074A>T	ENST00000376020.2	-	6	3093	c.3068T>A	c.(3067-3069)cTc>cAc	p.L1023H	SHROOM4_ENST00000460112.3_Missense_Mutation_p.L907H|SHROOM4_ENST00000289292.7_Missense_Mutation_p.L1023H	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1023					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GTCTCCAAGGAGGTCAAGAGA	0.502000													11	2					0	0	1	0	0
NFE2	4778	broad.mit.edu	37	12	54686238	54686238	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:54686238C>T	ENST00000540264.2	-	2	1551	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	NFE2_ENST00000435572.2_Missense_Mutation_p.E348K|NFE2_ENST00000312156.4_Missense_Mutation_p.E348K|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Missense_Mutation_p.E348K			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	348					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						GCGTACTCTTCAGGAGAGTAG	0.602000													43	65					0	0	1	0	0
NBR1	4077	broad.mit.edu	37	17	41349035	41349035	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:41349035C>T	ENST00000422280.1	+	16	2397	c.1938C>T	c.(1936-1938)acC>acT	p.T646T	NBR1_ENST00000542611.1_Silent_p.T625T|NBR1_ENST00000341165.6_Silent_p.T646T|NBR1_ENST00000590996.1_Silent_p.T646T|NBR1_ENST00000589872.1_Silent_p.T646T|NBR1_ENST00000389312.4_Silent_p.T646T	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	646					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TGAGTGGGACCCAGTTTGTGT	0.493000													44	9					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332481	70332481	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:70332481G>A	ENST00000338508.4	-	32	3919	c.3920C>T	c.(3919-3921)tCc>tTc	p.S1307F	SHANK2_ENST00000449833.2_Missense_Mutation_p.S711F|SHANK2_ENST00000409161.1_Missense_Mutation_p.S710F|SHANK2_ENST00000423696.2_Missense_Mutation_p.S927F			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	927					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CTTCTGCTGGGACGTGTCCAT	0.597000													39	90					0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101304234	101304234	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:101304234G>A	ENST00000259455.2	-	3	1010	c.551C>T	c.(550-552)cCa>cTa	p.P184L	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	184					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CAGAATGGCTGGATTCACCGC	0.507000													3	56					0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	107823126	107823126	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:107823126C>T	ENST00000375915.2	-	3	1234	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	366						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						AGAAAGGTTTCATAAAGCCCT	0.423000													10	43					0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200869306	200869306	+	Silent	SNP	C	C	T	rs34596202	byFrequency	TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:200869306C>T	ENST00000367342.4	+	4	710	c.510C>T	c.(508-510)atC>atT	p.I170I	C1orf106_ENST00000413687.2_Silent_p.I85I	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	170										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GCCGCAGGATCGGAGCGGCTT	0.607000													31	27					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24923989	24923989	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:24923989G>A	ENST00000329468.2	+	1	3449	c.2975G>A	c.(2974-2976)gGa>gAa	p.G992E		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCTGGCACTGGAGACAGTACC	0.502000													33	2					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130417205	130417205	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:130417205G>A	ENST00000370904.1	-	12	1584	c.674C>T	c.(673-675)cCt>cTt	p.P225L	IGSF1_ENST00000370903.3_Missense_Mutation_p.P234L|IGSF1_ENST00000370910.1_Missense_Mutation_p.P225L|IGSF1_ENST00000361420.3_Missense_Mutation_p.P234L			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	234					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GATGGGCCCAGGATGGGCTGT	0.478000													15	7					0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47649305	47649305	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:47649305C>T	ENST00000398742.2	+	5	855	c.806C>T	c.(805-807)tCt>tTt	p.S269F	GPR111_ENST00000296862.1_Missense_Mutation_p.S337F|GPR111_ENST00000507065.1_Missense_Mutation_p.S269F			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	337					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CCTTCCCCTTCTCAGGTCATC	0.413000													5	153					0	0	1	0	0
FGF10	2255	broad.mit.edu	37	5	44310583	44310583	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:44310583G>A	ENST00000264664.4	-	2	489	c.375C>T	c.(373-375)gcC>gcT	p.A125A		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	125					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					TGCTGTTAATGGCTTTGACGG	0.353000													5	2					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164786915	164786915	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:164786915G>A	ENST00000264382.3	-	4	386	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	108	P-type 1.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GATTATCAACGAAGAAGCACC	0.358000										HNSCC(35;0.089)			39	42					0	0	1	0	0
GP5	2814	broad.mit.edu	37	3	194118881	194118881	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:194118881G>A	ENST00000401815.1	-	1	202	c.131C>T	c.(130-132)tCc>tTc	p.S44F	GP5_ENST00000323007.3_Missense_Mutation_p.S44F			P40197	GPV_HUMAN	glycoprotein V (platelet)	44	LRRNT.				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)		GCCTAGCGCGGAGATGCGCGC	0.697000													24	71					0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48414001	48414001	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:48414001C>T	ENST00000249598.1	-	2	1026	c.867G>A	c.(865-867)aaG>aaA	p.K289K		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	289					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TGGAGCCGTCCTTGGACAGCT	0.607000													13	26					0	0	1	0	0
RASA3	22821	broad.mit.edu	37	13	114778680	114778680	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:114778680G>A	ENST00000334062.7	-	15	1571	c.1450C>T	c.(1450-1452)Ctg>Ttg	p.L484L	RASA3_ENST00000389544.4_Silent_p.L452L	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	484	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			AAGAACCTCAGGAAGATGAAG	0.617000													12	30					0	0	1	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140730737	140730737	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:140730737G>A	ENST00000523390.1	+	1	910	c.910G>A	c.(910-912)Gat>Aat	p.D304N	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCACATTGGATTTTGAAGA	0.413000													85	7					0	0	1	0	0
GALNT10	55568	broad.mit.edu	37	5	153765888	153765888	+	Silent	SNP	C	C	A	rs146278879		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:153765888C>A	ENST00000297107.6	+	7	1091	c.954C>A	c.(952-954)gcC>gcA	p.A318A	GALNT10_ENST00000519544.1_3'UTR|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000425427.2_Silent_p.A318A|GALNT10_ENST00000377661.2_Silent_p.A256A	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	318	Catalytic subdomain B.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CCGTGATGGCCGGTGGACTGT	0.572000													164	19					2.6979e-105	2.79219e-105	1	1	0
LMBRD2	92255	broad.mit.edu	37	5	36143317	36143317	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:36143317G>A	ENST00000296603.4	-	2	597	c.135C>T	c.(133-135)tgC>tgT	p.C45C		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	45						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAATAAGAAAGCAGAGATACC	0.343000													25	6					0	0	1	0	0
KIAA0895L	653319	broad.mit.edu	37	16	67214001	67214001	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:67214001G>A	ENST00000290881.7	-	3	1439	c.513C>T	c.(511-513)ccC>ccT	p.P171P	KIAA0895L_ENST00000563902.1_Silent_p.P171P|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000561621.1_Silent_p.P171P			Q68EN5	K895L_HUMAN	KIAA0895-like	171										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						CCGTGGGCATGGGCTCCTGGT	0.577000													53	33					0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27875442	27875442	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:27875442G>T	ENST00000374011.2	-	6	4153	c.3185C>A	c.(3184-3186)aCa>aAa	p.T1062K	AHDC1_ENST00000247087.5_Missense_Mutation_p.T1062K|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1062							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GGGCGAGACTGTGCTGGCCCG	0.677000													6	2					0.00116845	0.00117249	1	1	0
SV2B	9899	broad.mit.edu	37	15	91832897	91832897	+	Missense_Mutation	SNP	C	C	T	rs150512068	by1000genomes	TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:91832897C>T	ENST00000394232.1	+	12	2325	c.1855C>T	c.(1855-1857)Ccc>Tcc	p.P619S	SV2B_ENST00000545111.2_Missense_Mutation_p.P468S|SV2B_ENST00000330276.4_Missense_Mutation_p.P619S	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	619					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GGAGCTGTATCCCACCAACCA	0.532000													18	7					0	0	1	0	0
ARFGAP3	26286	broad.mit.edu	37	22	43218407	43218407	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:43218407G>A	ENST00000263245.5	-	9	900	c.681C>T	c.(679-681)gcC>gcT	p.A227A	ARFGAP3_ENST00000429508.2_Silent_p.A155A|ARFGAP3_ENST00000437119.2_Silent_p.A183A	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	227					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TTCCTTTTTTGGCCCCAAGCT	0.428000													59	68					0	0	1	0	0
ERCC6L	54821	broad.mit.edu	37	X	71427432	71427432	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:71427432C>T	ENST00000373657.1	-	3	1418	c.816G>A	c.(814-816)atG>atA	p.M272I	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.M395I			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	395	Helicase ATP-binding.				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					AGCGCGTCTCCATTAGCAACT	0.413000													4	31					0	0	1	0	0
SLC25A23	79085	broad.mit.edu	37	19	6452425	6452425	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:6452425C>T	ENST00000301454.4	-	8	1075	c.969G>A	c.(967-969)agG>agA	p.R323R	SLC25A23_ENST00000414491.2_Intron|SLC25A23_ENST00000334510.5_Silent_p.R323R	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	323					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						CCAGGATACGCCTGGCGCAGT	0.652000													15	12					0	0	1	0	0
LONRF3	79836	broad.mit.edu	37	X	118109231	118109231	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:118109231G>A	ENST00000365713.2	+	1	651	c.488G>A	c.(487-489)gGg>gAg	p.G163E	LONRF3_ENST00000304778.7_Missense_Mutation_p.G163E|LONRF3_ENST00000371628.3_Missense_Mutation_p.G163E			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	163					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						AAATGTCATGGGTTTCTATCA	0.672000													15	2					0	0	1	0	0
EPYC	1833	broad.mit.edu	37	12	91372011	91372011	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:91372011C>T	ENST00000261172.3	-	3	286	c.194G>A	c.(193-195)gGg>gAg	p.G65E		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	65					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	p.G65E(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						CTCTCTGTTCCCTGAAGGCAT	0.483000											OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	10					0	0	1	0	0
AMBP	259	broad.mit.edu	37	9	116823304	116823304	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:116823304C>T	ENST00000265132.3	-	9	1190	c.928G>A	c.(928-930)Ggg>Agg	p.G310R		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	310	BPTI/Kunitz inhibitor 2.				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	ACGCACTTCCCCTTGACAGCA	0.607000													16	29					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19662566	19662566	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:19662566G>A	ENST00000328041.6	+	10	1029	c.832G>A	c.(832-834)Gga>Aga	p.G278R		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	278						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CATGGTCAACGGATTGGCCAA	0.498000													43	91					0	0	1	0	0
NR5A1	2516	broad.mit.edu	37	9	127262843	127262843	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:127262843G>A	ENST00000373588.4	-	4	592	c.396C>T	c.(394-396)ccC>ccT	p.P132P		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	132					cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						GTGCGGGAGGGGGCGGCGGGG	0.701000													10	28					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110460542	110460542	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:110460542C>T	ENST00000378402.5	+	39	6051	c.5947C>T	c.(5947-5949)Cat>Tat	p.H1983Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1983	IPT/TIG 12.				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)			TATGATGCATCATAAGACAAA	0.408000										HNSCC(38;0.096)			16	22					0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637323	248637323	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:248637323C>T	ENST00000359594.2	+	1	697	c.672C>T	c.(670-672)acC>acT	p.T224T		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			GCTCATACACCCTCATCCTGC	0.562000													11	212					0	0	1	0	0
MGEA5	10724	broad.mit.edu	37	10	103546243	103546243	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:103546243G>A	ENST00000361464.3	-	16	3111	c.2716C>T	c.(2716-2718)Cca>Tca	p.P906S	MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000357797.5_Missense_Mutation_p.P839S|MGEA5_ENST00000439817.1_Missense_Mutation_p.P853S	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	906	Histone acetyltransferase activity (By similarity).				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		ACATCCTTTGGAAATCCTTCC	0.413000													31	39					0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7168027	7168027	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:7168027G>A	ENST00000341500.5	-	7	1601	c.1562C>T	c.(1561-1563)cCc>cTc	p.P521L	INSR_ENST00000302850.5_Missense_Mutation_p.P521L	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	521					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAAGTCGGGGGGCCAGTACGG	0.478000													12	35					0	0	1	0	0
PRLH	51052	broad.mit.edu	37	2	238475737	238475737	+	Silent	SNP	G	G	A	rs145946342	byFrequency	TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:238475737G>A	ENST00000165524.1	+	2	183	c.183G>A	c.(181-183)ggG>ggA	p.G61G		NM_015893.1	NP_056977.1	P81277	PRRP_HUMAN	prolactin releasing hormone	61						extracellular region				endometrium(1)|large_intestine(1)	2		Lung NSC(271;0.142)|all_lung(227;0.175)		Epithelial(121;8.28e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.03e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000329)|Lung(119;0.0106)|LUSC - Lung squamous cell carcinoma(224;0.0249)		CAACCCTGGGGGACGTCCCCA	0.647000													18	37					0	0	1	0	0
DTD1	92675	broad.mit.edu	37	20	18608840	18608840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:18608840C>T	ENST00000377452.3	+	4	620	c.440C>T	c.(439-441)tCg>tTg	p.S147L	DTD1_ENST00000494921.1_3'UTR	NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	147					D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds			large_intestine(4)|lung(1)|ovary(2)	7						GAGCTGGAATCGCCAGCTCCC	0.537000													37	54					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173060	126173060	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:126173060G>A	ENST00000339582.2	-	9	3184	c.2376C>T	c.(2374-2376)atC>atT	p.I792I	GRM8_ENST00000444921.2_Silent_p.I792I|GRM8_ENST00000358373.3_Silent_p.I792I			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	792					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CTAACCAAATGATGCAGGTGG	0.398000										HNSCC(24;0.065)			34	35					0	0	1	0	0
BPIFB1	92747	broad.mit.edu	37	20	31890830	31890830	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:31890830G>A	ENST00000253354.1	+	11	1251	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	364						extracellular space	lipid binding										GATCGTGCTGGAAGTGTTTCC	0.537000													49	143					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366836	248366836	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:248366836G>A	ENST00000456743.1	+	1	505	c.467G>A	c.(466-468)gGa>gAa	p.G156E		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTACGGATGGAATTATTGAT	0.463000													68	65					0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47977514	47977514	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr21:47977514C>T	ENST00000318711.7	+	31	3832	c.3649C>T	c.(3649-3651)Caa>Taa	p.Q1217*	DIP2A_ENST00000400274.1_Nonsense_Mutation_p.Q1212*|DIP2A_ENST00000417564.2_Nonsense_Mutation_p.Q1216*	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1216					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CTCGGGACACCAATCAGTGCT	0.637000													25	67					0	0	1	0	0
MAN1A2	10905	broad.mit.edu	37	1	117944839	117944839	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:117944839C>T	ENST00000356554.3	+	2	1069	c.334C>T	c.(334-336)Cga>Tga	p.R112*	MAN1A2_ENST00000482811.1_Intron	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	112					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		AAATAAAATTCGAGCTGATCA	0.348000													20	28					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41064601	41064601	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:41064601C>T	ENST00000399564.4	-	5	883	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TTCATCCTTTCATCCTCGGCC	0.463000													22	6					0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43585697	43585697	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:43585697C>T	ENST00000452443.2	-	2	147	c.143G>A	c.(142-144)aGc>aAc	p.S48N		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	48					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GAAGGGTCGGCTGAAGCTCAG	0.622000													108	13					0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150912691	150912691	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:150912691G>A	ENST00000329903.4	+	6	1749	c.1716G>A	c.(1714-1716)gaG>gaA	p.E572E		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	572					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTAGAAGAGAGGGGTCGGG	0.537000													59	9					0	0	1	0	0
PNP	4860	broad.mit.edu	37	14	20943058	20943058	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:20943058C>T	ENST00000361505.5	+	4	558	c.412C>T	c.(412-414)Cta>Tta	p.L138L	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P00491	PNPH_HUMAN	purine nucleoside phosphorylase	138					immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	CCATATCAACCTACCTGGTTT	0.483000													46	4					0	0	1	0	0
LRP3	4037	broad.mit.edu	37	19	33698422	33698422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:33698422C>T	ENST00000253193.7	+	7	2456	c.2254C>T	c.(2254-2256)Ccg>Tcg	p.P752S		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	752	Poly-Pro.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CAGGAACCCCCCGCCCCCCTG	0.697000													6	5					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30732064	30732064	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:30732064C>T	ENST00000262518.4	+	20	3403	c.3018C>T	c.(3016-3018)ggC>ggT	p.G1006G	SRCAP_ENST00000395059.2_Silent_p.G1006G|SRCAP_ENST00000344771.4_Silent_p.G1006G	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1006	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGCAAGAAGGCCGGACAGTGG	0.567000													50	107					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761880	92761880	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:92761880C>T	ENST00000318238.4	-	5	4621	c.3405G>A	c.(3403-3405)ttG>ttA	p.L1135L	SAMD9L_ENST00000411955.1_Silent_p.L1135L|SAMD9L_ENST00000437805.1_Silent_p.L1135L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1135										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGTTCCCATCCAACCACCATT	0.418000													22	32					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21087380	21087380	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:21087380G>A	ENST00000255882.6	-	36	4253	c.4167C>T	c.(4165-4167)ccC>ccT	p.P1389P	PI4KA_ENST00000572273.1_Silent_p.P1331P|PI4KA_ENST00000414196.3_Silent_p.P141P	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1331					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GGAACTTTGGGGGACAGCTTC	0.488000													35	72					0	0	1	0	0
TUB	7275	broad.mit.edu	37	11	8060559	8060559	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:8060559G>A	ENST00000305253.4	+	1	380	c.139G>A	c.(139-141)Ggc>Agc	p.G47S	RP11-236J17.6_ENST00000526646.1_RNA|RP11-236J17.6_ENST00000528151.1_RNA|TUB_ENST00000534099.1_Intron	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	0					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CCTGAAACGGGGCCACCGAAG	0.572000													19	8					0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7749422	7749422	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:7749422G>A	ENST00000254846.5	+	6	652	c.263G>A	c.(262-264)gGg>gAg	p.G88E	KDM6B_ENST00000448097.2_Missense_Mutation_p.G88E	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	88					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCCCTCCATGGGAAGCTGGAA	0.632000													23	6					0	0	1	0	0
NKX2-5	1482	broad.mit.edu	37	5	172659724	172659724	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:172659724G>A	ENST00000329198.4	-	2	1096	c.823C>T	c.(823-825)Ccc>Tcc	p.P275S		NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	275	Ala/Pro-rich.		P -> T (in ASD-AVCD).		adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGCCCGGCGGGGTAAGCGGCA	0.677000													3	5					0	0	1	0	0
LRRC23	10233	broad.mit.edu	37	12	7015068	7015068	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:7015068G>A	ENST00000007969.8	+	3	406	c.186G>A	c.(184-186)aaG>aaA	p.K62K	LRRC23_ENST00000443597.2_Silent_p.K62K|LRRC23_ENST00000433346.1_Silent_p.K62K|LRRC23_ENST00000436789.1_Silent_p.K62K|LRRC23_ENST00000449039.1_Intron|LRRC23_ENST00000429740.1_Silent_p.K62K|LRRC23_ENST00000323702.5_Silent_p.K62K	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	62										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						TGCTCTGTAAGACAGGCAATG	0.557000													35	51					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835108	12835108	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:12835108G>T	ENST00000357726.4	+	1	125	c.98G>T	c.(97-99)aGg>aTg	p.R33M		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	33										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCTGCCCAGGGAGCTCTTT	0.622000													48	53					2.69953e-25	2.77803e-25	1	1	0
OCRL	4952	broad.mit.edu	37	X	128674731	128674731	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:128674731G>A	ENST00000371113.4	+	2	215	c.50G>A	c.(49-51)gGt>gAt	p.G17D	OCRL_ENST00000357121.5_Missense_Mutation_p.G17D|OCRL_ENST00000486673.1_Intron	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	17					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						ACTGTCGAGGGTATGGAGATG	0.637000													51	11					0	0	1	0	0
CBX7	23492	broad.mit.edu	37	22	39530418	39530418	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:39530418G>A	ENST00000216133.5	-	5	791	c.586C>T	c.(586-588)Cct>Tct	p.P196S	CBX7_ENST00000475962.1_Intron|CBX7_ENST00000401405.3_Missense_Mutation_p.P103S	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN	chromobox homolog 7	196					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex		p.P196S(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					TCCTCTTCAGGGGGCTGCGCA	0.662000													6	17					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123452895	123452895	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:123452895G>A	ENST00000360772.3	-	11	1326	c.948C>T	c.(946-948)ccC>ccT	p.P316P	MYLK_ENST00000359169.1_Silent_p.P316P|MYLK_ENST00000346322.5_Silent_p.P316P|MYLK_ENST00000475616.1_Silent_p.P316P|MYLK_ENST00000360304.3_Silent_p.P316P			Q15746	MYLK_HUMAN	myosin light chain kinase	316					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ACTCCCTTGGGGGCTGAGGCT	0.642000													14	51					0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12978122	12978122	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:12978122G>A	ENST00000273221.4	-	3	652	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C	IQSEC1_ENST00000473088.1_5'UTR	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	146	IQ.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGGTACTGGCGAAACGCCGTC	0.582000													3	4					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50103127	50103127	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:50103127C>T	ENST00000418929.2	+	5	4289	c.4277C>T	c.(4276-4278)cCc>cTc	p.P1426L		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	605							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCCTTGGCCCCCGCGGCTGCA	0.667000													19	38					0	0	1	0	0
SEPP1	6414	broad.mit.edu	37	5	42808345	42808345	+	Silent	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:42808345T>C	ENST00000514985.1	-	2	367	c.111A>G	c.(109-111)agA>agG	p.R37R	SEPP1_ENST00000506577.1_Silent_p.R37R|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000511224.1_Silent_p.R37R|SEPP1_ENST00000507920.1_Silent_p.R37R	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	37					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						GATCTTGATCTCTTATGCTCC	0.522000													10	32					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30732065	30732065	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:30732065C>T	ENST00000262518.4	+	20	3404	c.3019C>T	c.(3019-3021)Cgg>Tgg	p.R1007W	SRCAP_ENST00000395059.2_Missense_Mutation_p.R1007W|SRCAP_ENST00000344771.4_Missense_Mutation_p.R1007W	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1007	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.R1007W(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCAAGAAGGCCGGACAGTGGT	0.572000													53	109					0	0	1	0	0
MB21D2	151963	broad.mit.edu	37	3	192516937	192516937	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:192516937C>T	ENST00000392452.2	-	2	1034	c.714G>A	c.(712-714)gtG>gtA	p.V238V		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	238										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TGAAAGATACCACAGGGACAA	0.478000													15	27					0	0	1	0	0
AMHR2	269	broad.mit.edu	37	12	53818111	53818111	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:53818111C>T	ENST00000257863.4	+	2	169	c.89C>T	c.(88-90)cCt>cTt	p.P30L	AMHR2_ENST00000550311.1_Missense_Mutation_p.P30L|AMHR2_ENST00000379791.3_Missense_Mutation_p.P30L	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	30					Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	TTTGAGGCCCCTGGAGTGCGG	0.572000													22	22					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128135017	128135017	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:128135017C>T	ENST00000368250.1	-	5	1030	c.532G>A	c.(532-534)Gat>Aat	p.D178N	THEMIS_ENST00000368248.2_Missense_Mutation_p.D257N|THEMIS_ENST00000543064.1_Missense_Mutation_p.D257N|THEMIS_ENST00000537166.1_Missense_Mutation_p.D222N			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	257	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCGTAAGAATCAGTGATGTCT	0.353000													49	3					0	0	1	0	0
DOK5	55816	broad.mit.edu	37	20	53205048	53205048	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:53205048C>T	ENST00000262593.5	+	3	551	c.201C>T	c.(199-201)aaC>aaT	p.N67N	DOK5_ENST00000395939.1_5'UTR	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	67	PH.						insulin receptor binding	p.N67K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			ATGTGAAGAACGTAGCTCGAT	0.408000													26	109					0	0	1	0	0
EPS8L1	54869	broad.mit.edu	37	19	55597332	55597332	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:55597332C>T	ENST00000201647.6	+	15	1565	c.1509C>T	c.(1507-1509)gaC>gaT	p.D503D	EPS8L1_ENST00000586329.1_Silent_p.D517D|EPS8L1_ENST00000245618.5_Silent_p.D376D|EPS8L1_ENST00000588359.1_Silent_p.D189D|EPS8L1_ENST00000540810.1_Silent_p.D439D	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	503	SH3.					cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		AGCAGCGGGACGTACTGGAGG	0.577000													12	21					0	0	1	0	0
POM121C	100101267	broad.mit.edu	37	7	75048688	75048688	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:75048688C>T	ENST00000453279.2	-	14	3645	c.2781G>A	c.(2779-2781)gcG>gcA	p.A927A	POM121C_ENST00000257665.5_Silent_p.A1169A	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1169	Pore side (Potential).				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CCACTCCAGGCGCAGGGGTGT	0.637000													19	36					0	0	1	0	0
ALDH7A1	501	broad.mit.edu	37	5	125887819	125887819	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:125887819C>T	ENST00000409134.3	-	14	1430	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H	ALDH7A1_ENST00000447989.2_Missense_Mutation_p.R367H|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.R340H	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	404					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity	p.R376H(1)		endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	ATTTCCAGGGCGATCCATAAC	0.398000													7	14					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156591	155156591	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:155156591C>T	ENST00000357232.3	-	25	7847	c.7848G>A	c.(7846-7848)tgG>tgA	p.W2616*		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2616					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTAAACTCAACCATTCCGGAG	0.488000													25	21					0	0	1	0	0
MORN5	254956	broad.mit.edu	37	9	124922255	124922255	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:124922255G>T	ENST00000536616.1	+	1	42	c.4G>T	c.(4-6)Gag>Tag	p.E2*	MORN5_ENST00000373764.3_Nonsense_Mutation_p.E2*			Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	2										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						AGGCGCCATGGAGTACACAGG	0.488000													36	37					2.13384e-23	2.19433e-23	1	1	0
EIF3F	8665	broad.mit.edu	37	11	8008887	8008887	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:8008887C>T	ENST00000537635.1	+	1	451	c.33C>T	c.(31-33)ttC>ttT	p.F11F	EIF3F_ENST00000449102.2_Intron|EIF3F_ENST00000533626.1_5'UTR|EIF3F_ENST00000309828.4_5'UTR			O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3, subunit F	0						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)		CCGCCTCCTTCTTTCTCGACA	0.562000											OREG0020726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	110	109					0	0	1	0	0
ZNF444	55311	broad.mit.edu	37	19	56671150	56671150	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:56671150C>T	ENST00000337080.3	+	5	931	c.564C>T	c.(562-564)tcC>tcT	p.S188S	ZNF444_ENST00000592949.1_Silent_p.S187S|ZNF444_ENST00000592171.1_3'UTR	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	188					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		GCAAAACGTCCCTGAAACCAG	0.716000													8	8					0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143960841	143960841	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:143960841G>A	ENST00000377675.3	-	2	301	c.295C>T	c.(295-297)Ctg>Ttg	p.L99L	CYP11B1_ENST00000292427.4_Intron|CYP11B1_ENST00000517471.1_Intron			P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	80					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CAGCGCCACAGACCAGCACGT	0.632000									Familial Hyperaldosteronism type I				26	21					0	0	1	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79974728	79974728	+	Silent	SNP	C	C	T	rs138723012		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:79974728C>T	ENST00000306729.7	+	15	1837	c.1740C>T	c.(1738-1740)gcC>gcT	p.A580A	ASPSCR1_ENST00000582404.1_3'UTR|ASPSCR1_ENST00000306739.4_Silent_p.A486A|ASPSCR1_ENST00000580534.1_Silent_p.A434A	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	486							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CATCTGCGGCCGATGTGCTGG	0.657000			T	TFE3	alveolar soft part sarcoma								11	32					0	0	1	0	0
DLG1	1739	broad.mit.edu	37	3	196921404	196921404	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:196921404G>A	ENST00000346964.2	-	5	564	c.375C>T	c.(373-375)atC>atT	p.I125I	DLG1_ENST00000450955.1_Silent_p.I125I|DLG1_ENST00000419354.1_Silent_p.I125I|DLG1_ENST00000357674.4_Silent_p.I125I|DLG1_ENST00000422288.1_Silent_p.I125I|DLG1_ENST00000485409.1_5'UTR|DLG1_ENST00000314062.3_Silent_p.I125I|DLG1_ENST00000448528.2_Silent_p.I125I|DLG1_ENST00000392382.2_Silent_p.I125I	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	125					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)		CTTCATTTGTGATTTGTGGGG	0.368000													31	67					0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100813710	100813710	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:100813710C>T	ENST00000323346.5	+	12	1856	c.1543C>T	c.(1543-1545)Ctc>Ttc	p.L515F	SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Missense_Mutation_p.L465F	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	515					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.L515V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CCCAGAGAATCTCTCTGAGGA	0.468000													14	29					0	0	1	0	0
TMEM41A	90407	broad.mit.edu	37	3	185213024	185213024	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:185213024C>T	ENST00000421852.1	-	3	448	c.353G>A	c.(352-354)tGc>tAc	p.C118Y	TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	118						integral to membrane				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CAGGTAGCAGCATGTGGCACC	0.517000													21	107					0	0	1	0	0
EFCAB7	84455	broad.mit.edu	37	1	64033988	64033988	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:64033988C>T	ENST00000371088.4	+	12	1751	c.1505C>T	c.(1504-1506)cCa>cTa	p.P502L	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	502							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						CAGGCATGTCCATTTGTCATT	0.313000													5	9					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57648247	57648247	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:57648247G>A	ENST00000269834.1	-	4	620	c.235C>T	c.(235-237)Cgt>Tgt	p.R79C		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	79	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTACCTGCACGGCCACTTCCC	0.522000													15	47					0	0	1	0	0
C1orf186	440712	broad.mit.edu	37	1	206240150	206240150	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:206240150G>A	ENST00000331555.5	-	5	940	c.302C>T	c.(301-303)tCg>tTg	p.S101L		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	101						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GGCAGGAGGCGAACTGCAGGA	0.512000													172	19					0	0	1	0	0
CCP110	9738	broad.mit.edu	37	16	19554303	19554303	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:19554303G>A	ENST00000396212.2	+	9	2907	c.2471G>A	c.(2470-2472)cGa>cAa	p.R824Q	CCP110_ENST00000396208.2_Missense_Mutation_p.R824Q|CCP110_ENST00000381396.5_Missense_Mutation_p.R824Q	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	824					centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						AAGCAACTTCGACAAACTGTA	0.348000													16	24					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69934248	69934248	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:69934248C>T	ENST00000358913.5	+	11	2887	c.2399C>T	c.(2398-2400)tCc>tTc	p.S800F	MYPN_ENST00000540630.1_Missense_Mutation_p.S800F|MYPN_ENST00000354393.2_Missense_Mutation_p.S525F	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	800	Pro-rich.					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						TTCACATTTTCCATCCCCAGC	0.547000													22	28					0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25913647	25913647	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:25913647G>A	ENST00000360488.3	-	11	1604	c.1187C>T	c.(1186-1188)tCc>tTc	p.S396F	SLC17A2_ENST00000265425.3_3'UTR|SLC17A2_ENST00000377850.3_Silent_p.F445F	NM_005835.2	NP_005826.1	O00624	NPT3_HUMAN	solute carrier family 17, member 2	0					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						CAGCAGACAGGAAAAAGACAT	0.453000													26	17					0	0	1	0	0
PNMAL1	55228	broad.mit.edu	37	19	46973885	46973885	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:46973885G>A	ENST00000313683.10	-	2	713	c.408C>T	c.(406-408)tcC>tcT	p.S136S	PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Silent_p.S136S	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	136										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		gctggttctgggacagggtgg	0.577000													34	60					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45843526	45843526	+	Splice_Site	SNP	A	A	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr21:45843526A>G	ENST00000397928.1	+	23	3906		c.e23-1		TRPM2_ENST00000397932.2_Splice_Site|TRPM2_ENST00000300482.5_Splice_Site|TRPM2_ENST00000300481.9_Splice_Site|TRPM2_ENST00000498430.1_Splice_Site	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2							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						TTCCTCTTTCAGGGTTGACGC	0.652000													16	11					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7063813	7063813	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:7063813G>A	ENST00000299481.4	+	4	902	c.556G>A	c.(556-558)Gga>Aga	p.G186R		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	186	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GGGAGCTGCTGGAGTTGGGAA	0.463000													42	37					0	0	1	0	0
HNRNPDL	9987	broad.mit.edu	37	4	83349475	83349475	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:83349475C>A	ENST00000295470.5	-	2	743	c.568G>T	c.(568-570)Gga>Tga	p.G190*	HNRNPDL_ENST00000349655.4_Nonsense_Mutation_p.G71*|HNRNPDL_ENST00000602300.1_Nonsense_Mutation_p.G71*|HNRNPDL_ENST00000514511.1_Intron|HNRNPDL_ENST00000502762.1_Nonsense_Mutation_p.G190*	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1			heterogeneous nuclear ribonucleoprotein D-like																		AATCCAAATCCTCTTGATCTC	0.398000													8	155					0.000978159	0.000982221	1	1	0
PDE6B	5158	broad.mit.edu	37	4	654258	654258	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:654258G>A	ENST00000255622.6	+	12	1513	c.1470G>A	c.(1468-1470)aaG>aaA	p.K490K	PDE6B_ENST00000429163.2_Silent_p.K211K|PDE6B_ENST00000496514.1_Silent_p.K490K	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	490					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						TCCCACAGAAGGAGGAGCTGC	0.567000													9	44					0	0	1	0	0
USP45	85015	broad.mit.edu	37	6	99883615	99883615	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:99883615G>A	ENST00000327681.6	-	18	2954	c.2422C>T	c.(2422-2424)Ctt>Ttt	p.L808F	USP45_ENST00000500704.2_Missense_Mutation_p.L808F|USP45_ENST00000539675.1_Missense_Mutation_p.L101F|USP45_ENST00000392738.2_Missense_Mutation_p.L488F|USP45_ENST00000369233.2_Missense_Mutation_p.L760F	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	808					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		TCATAGAAAAGAAGGTAGGCT	0.368000													40	7					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11097627	11097627	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:11097627C>T	ENST00000358026.2	+	5	1091	c.807C>T	c.(805-807)ccC>ccT	p.P269P	SMARCA4_ENST00000590574.1_Silent_p.P269P|SMARCA4_ENST00000413806.3_Silent_p.P269P|SMARCA4_ENST00000541122.2_Silent_p.P269P|SMARCA4_ENST00000450717.3_Silent_p.P269P|SMARCA4_ENST00000429416.3_Silent_p.P269P|SMARCA4_ENST00000344626.4_Silent_p.P269P|SMARCA4_ENST00000589677.1_Silent_p.P269P|SMARCA4_ENST00000444061.3_Silent_p.P269P	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	269	Necessary for interaction with SS18L1/CREST (By similarity).				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGGGCGTGCCCCCCGGGATGC	0.627000			"""F, N, Mis"""		NSCLC								35	38					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235973733	235973733	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:235973733G>A	ENST00000389794.3	-	5	559	c.385C>T	c.(385-387)Ctg>Ttg	p.L129L	LYST_ENST00000389793.2_Silent_p.L129L|LYST_ENST00000536965.1_Silent_p.L129L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	129					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGACTAGACAGGGCACTTCCT	0.383000													39	26					0	0	1	0	0
CELF4	56853	broad.mit.edu	37	18	34854417	34854417	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr18:34854417C>T	ENST00000420428.2	-	6	1053	c.657_splice	c.e6-1	p.G220_splice	CELF4_ENST00000334919.5_Splice_Site_p.G210_splice|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000603232.1_Splice_Site_p.G220_splice|CELF4_ENST00000361795.5_Splice_Site_p.G219_splice|CELF4_ENST00000591287.1_Splice_Site_p.G219_splice|CELF4_ENST00000588597.1_Splice_Site_p.G209_splice|CELF4_ENST00000412753.1_Splice_Site_p.G220_splice|CELF4_ENST00000601019.1_Splice_Site_p.G219_splice|CELF4_ENST00000591282.1_Splice_Site_p.G220_splice	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	220	RRM 2.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GACGAGGCTCCCTGCGGCCGG	0.711000													45	90					0	0	1	0	0
C6orf10	10665	broad.mit.edu	37	6	32260813	32260813	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:32260813G>A	ENST00000375015.4	-	26	1834	c.1634C>T	c.(1633-1635)tCg>tTg	p.S545L	C6orf10_ENST00000527965.1_Missense_Mutation_p.S530L|C6orf10_ENST00000447241.2_Missense_Mutation_p.S546L|C6orf10_ENST00000375007.4_Missense_Mutation_p.S544L|C6orf10_ENST00000442822.2_Intron|C6orf10_ENST00000533191.1_Missense_Mutation_p.S544L			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	546	Lys-rich.					integral to membrane		p.S546L(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CGCCCTTTTCGAGCCTTTTGA	0.333000													18	32					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160969557	160969557	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:160969557G>A	ENST00000447678.1	-	32	5228	c.5108C>T	c.(5107-5109)cCt>cTt	p.P1703L	LPA_ENST00000316300.5_Missense_Mutation_p.P1703L	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4211	Kringle 15.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GACAGTCGGAGGAGCGACCAC	0.537000													44	10					0	0	1	0	0
PHOSPHO2	493911	broad.mit.edu	37	2	170557707	170557707	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:170557707C>T	ENST00000359744.3	+	4	614	c.226C>T	c.(226-228)Cca>Tca	p.P76S	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Intron	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	76							metal ion binding|pyridoxal phosphatase activity			breast(1)|large_intestine(1)|lung(6)|skin(2)	10						GCCTTTCACTCCAGGGATGGT	0.348000													6	44					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	73023356	73023356	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:73023356C>T	ENST00000264839.7	+	24	3658	c.3658C>T	c.(3658-3660)Cgc>Tgc	p.R1220C	RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000517960.1_Missense_Mutation_p.R1163C|RIMS1_ENST00000491071.2_Missense_Mutation_p.R1194C|RIMS1_ENST00000401910.3_Missense_Mutation_p.R691C|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000348717.5_Missense_Mutation_p.R1163C|RIMS1_ENST00000538414.1_Missense_Mutation_p.R177C|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000521978.1_Missense_Mutation_p.R1371C			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1371					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCAATCTGAGCGCCCCAGGGG	0.423000													5	11					0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100497169	100497169	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:100497169G>A	ENST00000471714.1	-	58	4374	c.4265C>T	c.(4264-4266)cCt>cTt	p.P1422L	ABI3BP_ENST00000383691.4_Missense_Mutation_p.P674L|ABI3BP_ENST00000284322.5_Missense_Mutation_p.P720L			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	720						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						TGGTGGTAAAGGTTTTCTTCG	0.458000													14	60					0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180383312	180383312	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:180383312G>A	ENST00000410066.1	-	5	1053	c.450C>T	c.(448-450)ccC>ccT	p.P150P	ZNF385B_ENST00000409692.1_Silent_p.P48P|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Silent_p.P74P|ZNF385B_ENST00000336917.5_Silent_p.P48P	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	150						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TCTTCTTTGGGGGAATGGATA	0.348000													53	14					0	0	1	0	0
NUBP1	4682	broad.mit.edu	37	16	10851795	10851795	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:10851795C>T	ENST00000283027.5	+	7	536	c.517C>T	c.(517-519)Cca>Tca	p.P173S	NUBP1_ENST00000571790.1_3'UTR|NUBP1_ENST00000433392.2_Missense_Mutation_p.P162S	NM_002484.2	NP_002475.2	P53384	NUBP1_HUMAN	nucleotide binding protein 1	173					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						TGTGGACACCCCACCTGGGAC	0.562000													41	121					0	0	1	0	0
TFAP2B	7021	broad.mit.edu	37	6	50810880	50810880	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:50810880C>T	ENST00000263046.4	+	8	1351	c.1185C>T	c.(1183-1185)atC>atT	p.I395I	TFAP2B_ENST00000393655.3_Silent_p.I386I			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	386				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					CCAGCCCCATCCTGGAGCCGG	0.637000													74	71					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196673492	196673492	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:196673492G>A	ENST00000312428.6	-	53	10097	c.9997C>T	c.(9997-9999)Cga>Tga	p.R3333*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3333					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCATCTAATCGACATATTTCA	0.408000													56	17					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99462528	99462528	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:99462528G>A	ENST00000376460.1	-	47	5228	c.5148C>T	c.(5146-5148)ctC>ctT	p.L1716L	DOCK9_ENST00000339416.2_Silent_p.L1717L|DOCK9_ENST00000448493.2_3'UTR	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1717	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACTGCTCAAGGAGCTCCATCA	0.522000													73	68					0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55971583	55971583	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:55971583C>T	ENST00000389286.4	-	7	1081	c.1034G>A	c.(1033-1035)cGa>cAa	p.R345Q		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	345	Ig-like 4.				multicellular organismal development	integral to membrane		p.R345Q(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		ACACACAAATCGAGCAGTGCC	0.393000													36	10					0	0	1	0	0
LRRC31	79782	broad.mit.edu	37	3	169572738	169572738	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:169572738C>T	ENST00000316428.5	-	6	911	c.854G>A	c.(853-855)aGg>aAg	p.R285K	LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.R229K|LRRC31_ENST00000523069.1_Missense_Mutation_p.R285K	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	285										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			ATCTAATTTCCTCAGCTCACC	0.458000													38	50					0	0	1	0	0
BOLA1	51027	broad.mit.edu	37	1	149871954	149871954	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:149871954G>A	ENST00000369153.2	+	3	1006	c.342G>A	c.(340-342)tgG>tgA	p.W114*	BOLA1_ENST00000369152.5_Nonsense_Mutation_p.W114*|BOLA1_ENST00000369150.1_Nonsense_Mutation_p.W114*|BOLA1_ENST00000476344.1_3'UTR			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	114						extracellular region	protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCGCCCAGTGGAGAGAGAACT	0.657000													24	50					0	0	1	0	0
CSF3	1440	broad.mit.edu	37	17	38172816	38172816	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:38172816G>A	ENST00000331769.2	+	3	586	c.370G>A	c.(370-372)Gag>Aag	p.E124K	CSF3_ENST00000577675.1_Missense_Mutation_p.E88K|CSF3_ENST00000394149.3_Missense_Mutation_p.E128K|CSF3_ENST00000394148.3_Missense_Mutation_p.E95K|CSF3_ENST00000225474.2_Missense_Mutation_p.E131K			P09919	CSF3_HUMAN	colony stimulating factor 3 (granulocyte)	131					cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GATCTCCCCCGAGTTGGGTCC	0.627000													129	24					0	0	1	0	0
TAS2R46	259292	broad.mit.edu	37	12	11214245	11214245	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:11214245G>A	ENST00000533467.1	-	1	648	c.649C>T	c.(649-651)Caa>Taa	p.Q217*	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	217					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		CTGGGATCTTGAGATCCTTTG	0.408000													19	34					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38998082	38998082	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:38998082T>G	ENST00000359357.3	+	91	13641	c.13387T>G	c.(13387-13389)Ttc>Gtc	p.F4463V	DNAH8_ENST00000441566.1_Missense_Mutation_p.F4427V					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGATTTGACCTTCATCACTGT	0.478000													41	84					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235969576	235969576	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:235969576G>A	ENST00000389794.3	-	6	3034	c.2860C>T	c.(2860-2862)Cct>Tct	p.P954S	LYST_ENST00000389793.2_Missense_Mutation_p.P954S|LYST_ENST00000536965.1_Missense_Mutation_p.P954S			Q99698	LYST_HUMAN	lysosomal trafficking regulator	954					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATATGTTCAGGAGAAGGCAAG	0.448000													17	74					0	0	1	0	0
LYPD4	147719	broad.mit.edu	37	19	42342965	42342965	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:42342965G>A	ENST00000330743.3	-	3	1412	c.201C>T	c.(199-201)ttC>ttT	p.F67F	LYPD4_ENST00000601246.1_Intron|LYPD4_ENST00000343055.4_Intron	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	67						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						CTGTCTCAATGAACACTAGCG	0.488000													76	79					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997860	115997860	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:115997860G>A	ENST00000264363.2	-	2	1011	c.333C>T	c.(331-333)gcC>gcT	p.A111A		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	111	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CCTTTCCAGGGGCAATAACCA	0.403000													13	31					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40902257	40902257	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:40902257G>A	ENST00000324001.7	-	7	2272	c.2002C>T	c.(2002-2004)Cct>Tct	p.P668S	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	668	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCATTTTAGGGAGTTTCATC	0.572000													55	75					0	0	1	0	0
RRP1B	23076	broad.mit.edu	37	21	45089808	45089808	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr21:45089808C>T	ENST00000340648.4	+	2	291	c.174C>T	c.(172-174)ctC>ctT	p.L58L		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	58					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GGAAGGGGCTCTTCTACTGCA	0.453000													36	51					0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4512515	4512515	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:4512515C>T	ENST00000301286.3	-	3	1414	c.1415G>A	c.(1414-1416)gGc>gAc	p.G472D		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	472	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GTCCAGGCCGCCCTGGACGGC	0.597000													61	81					0	0	1	0	0
FAR1	84188	broad.mit.edu	37	11	13736177	13736177	+	Silent	SNP	C	C	T	rs146816221	byFrequency	TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:13736177C>T	ENST00000354817.3	+	9	1221	c.1077C>T	c.(1075-1077)gcC>gcT	p.A359A	FAR1_ENST00000527202.1_3'UTR	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	359					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						GCCATAAGGCCCCAGCATTCC	0.443000													12	14					0	0	1	0	0
C8orf74	203076	broad.mit.edu	37	8	10557855	10557855	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:10557855G>A	ENST00000304519.5	+	4	788	c.759G>A	c.(757-759)caG>caA	p.Q253Q	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	253								p.Q253H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		TGAAGCTTCAGAAGAAGACTC	0.612000													29	76					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22363239	22363239	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:22363239C>T	ENST00000263160.3	+	2	689	c.252C>T	c.(250-252)tcC>tcT	p.S84S		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	84					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TCTGCATCTCCTTCGGTATCC	0.632000													37	21					0	0	1	0	0
ZNF271P	10778	broad.mit.edu	37	18	32887558	32887558	+	RNA	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr18:32887558C>T	ENST00000399070.3	+	0	1952					NR_024565.1|NR_024566.1															large_intestine(3)|lung(9)	12						TCTCATTAACCATCAAAAAAT	0.438000													16	12					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23929371	23929371	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:23929371G>A	ENST00000382298.3	-	8	1968	c.1380C>T	c.(1378-1380)ctC>ctT	p.L460L	SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382292.3_Silent_p.L460L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	460					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGTGAACTGGGAGGCCTGTGC	0.493000													18	26					0	0	1	0	0
YARS	8565	broad.mit.edu	37	1	33282828	33282828	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:33282828G>A	ENST00000373477.4	-	1	926	c.18C>T	c.(16-18)agC>agT	p.S6S		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	6					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TCTCTTCAGGGCTGGGAGCGT	0.652000													43	80					0	0	1	0	0
NUPR1	26471	broad.mit.edu	37	16	28549464	28549464	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:28549464C>T	ENST00000324873.6	-	2	391	c.125G>A	c.(124-126)cGg>cAg	p.R42Q	NUPR1_ENST00000395641.2_Missense_Mutation_p.R60Q	NM_001042483.1|NM_012385.2	NP_001035948.1|NP_036517.1	O60356	NUPR1_HUMAN	nuclear protein, transcriptional regulator, 1	42					cell growth|induction of apoptosis	nucleus				breast(1)|large_intestine(1)|lung(1)	3						GCGACCTTTCCGGCCTCCACC	0.602000													34	86					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952529	119952529	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:119952529G>A	ENST00000307142.4	+	4	2795	c.2599G>A	c.(2599-2601)Gga>Aga	p.G867R	SYNPO2_ENST00000434046.2_Missense_Mutation_p.G867R|SYNPO2_ENST00000429713.2_Missense_Mutation_p.G867R|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	867						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGAGCTTCCAGGAATGAGTGG	0.527000													47	123					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16838749	16838749	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:16838749G>A	ENST00000355661.3	-	11	1474	c.1464C>T	c.(1462-1464)ccC>ccT	p.P488P	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.P488P|PLEKHA7_ENST00000448080.2_Silent_p.P488P			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	488					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						GCAGGTTTCGGGGAGGTGGCG	0.637000													64	50					0	0	1	0	0
GHDC	84514	broad.mit.edu	37	17	40343158	40343158	+	Silent	SNP	A	A	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:40343158A>G	ENST00000301671.8	-	5	1401	c.960T>C	c.(958-960)ttT>ttC	p.F320F	GHDC_ENST00000414034.3_Silent_p.F320F|GHDC_ENST00000436923.2_Silent_p.F320F|GHDC_ENST00000428494.2_Silent_p.F281F|GHDC_ENST00000587427.1_Silent_p.F320F|GHDC_ENST00000593209.1_Silent_p.F320F			Q8N2G8	GHDC_HUMAN	GH3 domain containing	320						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GCAGCTCGATAAAGGGGGCCC	0.627000													37	13					0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	224008965	224008965	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:224008965G>A	ENST00000343537.7	-	2	423	c.132C>T	c.(130-132)ccC>ccT	p.P44P	TP53BP2_ENST00000391878.2_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	38					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)		CACTCTCGCCGGGTTCTTTGC	0.468000													85	7					0	0	1	0	0
PRKD3	23683	broad.mit.edu	37	2	37543573	37543573	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:37543573G>A	ENST00000379066.1	-	2	857	c.95C>T	c.(94-96)cCt>cTt	p.P32L	PRKD3_ENST00000234179.2_Missense_Mutation_p.P32L			O94806	KPCD3_HUMAN	protein kinase D3	32					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TCCCGTCTTAGGACTTGAACA	0.498000													7	61					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7614987	7614987	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:7614987C>T	ENST00000221249.6	+	17	2117	c.1686C>T	c.(1684-1686)tcC>tcT	p.S562S	PNPLA6_ENST00000450331.3_Silent_p.S562S|PNPLA6_ENST00000414982.3_Silent_p.S610S|PNPLA6_ENST00000545201.2_Silent_p.S536S|PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000600737.1_Silent_p.S601S	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	601					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TCTCCAAGTCCGACTTCTATG	0.622000													49	73					0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94780706	94780706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:94780706C>T	ENST00000341584.3	-	2	426	c.280G>A	c.(280-282)Ggt>Agt	p.G94S		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	94					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	AGGTTGAAACCCAGGCCCTGG	0.537000													7	13					0	0	1	0	0
TNMD	64102	broad.mit.edu	37	X	99849315	99849315	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:99849315A>G	ENST00000373031.4	+	4	596	c.379A>G	c.(379-381)Aaa>Gaa	p.K127E	TNMD_ENST00000485971.1_3'UTR	NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	127	BRICHOS.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						AACTCAGATTAAAGTGATTCC	0.353000													20	3					0	0	1	0	0
KIF22	3835	broad.mit.edu	37	16	29816329	29816329	+	Silent	SNP	C	C	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:29816329C>A	ENST00000561482.1	+	12	2305	c.1668C>A	c.(1666-1668)ctC>ctA	p.L556L	KIF22_ENST00000160827.4_Silent_p.L624L|KIF22_ENST00000569382.2_Silent_p.L570L|KIF22_ENST00000400751.5_Silent_p.L556L	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	624					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						GGCGGGAGCTCCACGGCCCCT	0.657000													17	49					3.99206e-14	4.08784e-14	1	1	0
FKBP5	2289	broad.mit.edu	37	6	35547904	35547904	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:35547904G>A	ENST00000536438.1	-	10	1250	c.935C>T	c.(934-936)tCt>tTt	p.S312F	FKBP5_ENST00000357266.4_Missense_Mutation_p.S312F|FKBP5_ENST00000540787.1_Missense_Mutation_p.S133F|FKBP5_ENST00000539068.1_Missense_Mutation_p.S312F	NM_001145775.1	NP_001139247.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	312					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						AAATGATTCAGAAGCTTTCGA	0.443000													82	47					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79420961	79420961	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:79420961A>C	ENST00000264895.6	+	61	9642	c.9202A>C	c.(9202-9204)Atc>Ctc	p.I3068L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3063	Calx-beta 5.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CATCAAGGTGATCCGCAGAGG	0.547000													76	52					0	0	1	0	0
CDK9	1025	broad.mit.edu	37	9	130551705	130551705	+	Silent	SNP	C	C	T	rs142704308		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:130551705C>T	ENST00000373265.2	+	7	1353	c.1353C>T	c.(1351-1353)tcC>tcT	p.S451S	CDK9_ENST00000373264.4_Silent_p.S334S			P50750	CDK9_HUMAN	cyclin-dependent kinase 9	334					cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(1)	1						ACCTGACGTCCATGTTCGAGT	0.632000													72	109					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57966029	57966029	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:57966029G>A	ENST00000455537.2	+	14	1822	c.1548G>A	c.(1546-1548)gtG>gtA	p.V516V	KIF5A_ENST00000286452.5_Silent_p.V427V	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	516					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AGCTTCTGGTGGATGAGCTGT	0.567000													7	3					0	0	1	0	0
TRIM62	55223	broad.mit.edu	37	1	33613051	33613051	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:33613051G>A	ENST00000291416.5	-	5	1388	c.1155C>T	c.(1153-1155)ggC>ggT	p.G385G	TRIM62_ENST00000543586.1_Silent_p.G264G	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	385	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				TGCAGTAGAAGCCGCGGCTGG	0.637000													27	23					0	0	1	0	0
TAB1	10454	broad.mit.edu	37	22	39811541	39811541	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:39811541C>T	ENST00000216160.6	+	3	269	c.207C>T	c.(205-207)aaC>aaT	p.N69N	TAB1_ENST00000331454.3_Silent_p.N69N	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	69	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GGGTCTTCAACGGCTATGATG	0.622000													19	136					0	0	1	0	0
HLA-DMA	3108	broad.mit.edu	37	6	32917094	32917094	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:32917094G>A	ENST00000374843.4	-	4	820	c.735C>T	c.(733-735)atC>atT	p.I245I	HLA-DMA_ENST00000395305.3_Silent_p.I150I|HLA-DMA_ENST00000395303.3_Silent_p.I211I|HLA-DMA_ENST00000464392.1_5'UTR|XXbac-BPG181M17.5_ENST00000429234.1_Intron	NM_006120.3	NP_006111.2	Q31604	Q31604_HUMAN	major histocompatibility complex, class II, DM alpha	245						integral to membrane|MHC class II protein complex				kidney(1)|large_intestine(2)|lung(8)	11						CAATGCCCACGATGATGCCCA	0.587000													49	50					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42794645	42794645	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:42794645C>T	ENST00000572681.2	+	11	4520	c.4452C>T	c.(4450-4452)ccC>ccT	p.P1484P	CIC_ENST00000575354.2_Silent_p.P575P|CIC_ENST00000160740.3_Silent_p.P575P			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	575					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGCCCCCACCCCCTGGGGCTG	0.677000			"""Mis, F, S"""		oligodendroglioma								24	34					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57648248	57648248	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:57648248G>A	ENST00000269834.1	-	4	619	c.234C>T	c.(232-234)ggC>ggT	p.G78G		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	78	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TACCTGCACGGCCACTTCCCA	0.527000													15	48					0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75315533	75315533	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:75315533G>A	ENST00000297784.5	+	8	876	c.336G>A	c.(334-336)aaG>aaA	p.K112K	TMC1_ENST00000396237.3_Silent_p.K112K|TMC1_ENST00000340019.3_Silent_p.K112K	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	112	Arg/Asp/Glu/Lys-rich (highly charged).				sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						AACCATGGAAGATGGAGAAGA	0.333000													16	16					0	0	1	0	0
SVOP	55530	broad.mit.edu	37	12	109306379	109306379	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:109306379G>A	ENST00000299134.5	-	14	1382	c.1383C>T	c.(1381-1383)gcC>gcT	p.A461A		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						ACCATCTCCTGGCCCCACTCC	0.612000													99	164					0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19318162	19318162	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:19318162G>A	ENST00000461366.1	+	10	1303	c.1088G>A	c.(1087-1089)gGg>gAg	p.G363E		NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	363							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CCTGCCCCAGGGAGGCGGCGG	0.632000													27	4					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52252198	52252198	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:52252198C>T	ENST00000356297.4	-	21	4232	c.4132G>A	c.(4132-4134)Gca>Aca	p.A1378T	PXDNL_ENST00000543296.1_Intron	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1378					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)				TCTCTGAGTGCTGTGATGGTT	0.388000													37	40					0	0	1	0	0
ZDHHC8P1	150244	broad.mit.edu	37	22	23742681	23742681	+	RNA	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:23742681C>T	ENST00000255890.4	-	0	528																											CCCCCGGGCCCATAGTCAGGG	0.622000													11	7					0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52149516	52149516	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:52149516C>T	ENST00000222107.4	-	2	553	c.415G>A	c.(415-417)Gtg>Atg	p.V139M	SIGLEC5_ENST00000599649.1_Missense_Mutation_p.V139M|SIGLEC14_ENST00000360844.6_Missense_Mutation_p.V139M|SIGLEC5_ENST00000429354.3_Intron			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	139					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		ATACCTGTCACCTCCAAGTTC	0.557000													42	66					0	0	1	0	0
TM9SF2	9375	broad.mit.edu	37	13	100211643	100211643	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:100211643C>T	ENST00000376387.4	+	16	1969	c.1779C>T	c.(1777-1779)ttC>ttT	p.F593F		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	593					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					GGCGTTCATTCCTTACGAGTG	0.353000													5	52					0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96827385	96827385	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:96827385G>A	ENST00000371270.3	-	2	326	c.232C>T	c.(232-234)Cat>Tat	p.H78Y	CYP2C8_ENST00000539050.1_5'UTR|CYP2C8_ENST00000535898.1_Intron	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	78					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TCATATCCATGAAACACCACT	0.418000													20	21					0	0	1	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48137379	48137379	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:48137379C>T	ENST00000405493.2	-	18	1842	c.1633G>A	c.(1633-1635)Gca>Aca	p.A545T	RAPGEF3_ENST00000389212.3_Missense_Mutation_p.A587T|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.A587T|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.A545T|RAPGEF3_ENST00000548919.1_Intron|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.A545T	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	545					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GCCAACGCTGCCATCACCTCT	0.607000													30	40					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277838	152277838	+	Missense_Mutation	SNP	G	G	A	rs139489857		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:152277838G>A	ENST00000368799.1	-	3	9559	c.9524C>T	c.(9523-9525)tCc>tTc	p.S3175F	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3175	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)			TGAGTGCCTGGAGCTGTCTCC	0.552000									Ichthyosis				330	247					0	0	1	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61288114	61288114	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:61288114A>G	ENST00000217159.1	+	2	513	c.308A>G	c.(307-309)aAg>aGg	p.K103R	SLCO4A1_ENST00000370507.1_Missense_Mutation_p.K103R	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	103					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			AACACGCCCAAGGGCATCCTG	0.652000													31	48					0	0	1	0	0
LRRC31	79782	broad.mit.edu	37	3	169574228	169574228	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:169574228A>G	ENST00000316428.5	-	5	776	c.719T>C	c.(718-720)gTt>gCt	p.V240A	LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.V184A|LRRC31_ENST00000523069.1_Missense_Mutation_p.V240A	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	240										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CAGACTGCCAACAATGTCTCT	0.378000													19	103					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7409679	7409679	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:7409679A>G	ENST00000361972.4	-	4	458	c.368T>C	c.(367-369)gTa>gCa	p.V123A	SFMBT2_ENST00000397167.1_Missense_Mutation_p.V123A|SFMBT2_ENST00000397160.3_Missense_Mutation_p.V123A|SFMBT2_ENST00000379711.2_Missense_Mutation_p.V123A|SFMBT2_ENST00000379713.3_Missense_Mutation_p.V123A	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	123					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CGCGATGACTACGTCACACCA	0.602000													10	35					0	0	1	0	0
ZNF259	8882	broad.mit.edu	37	11	116656545	116656545	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:116656545C>T	ENST00000227322.3	-	5	608	c.549G>A	c.(547-549)aaG>aaA	p.K183K		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN	zinc finger protein 259	183					cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		GCTTTAGCTCCTTCAGTTTGA	0.468000													20	21					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61987604	61987604	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:61987604G>A	ENST00000409186.1	-	5	2733	c.628C>T	c.(628-630)Cct>Tct	p.P210S	PCDH20_ENST00000409204.4_Missense_Mutation_p.P210S			Q8N6Y1	PCD20_HUMAN	protocadherin 20	183	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TGGGAAACAGGGAACTGCGGG	0.522000													84	70					0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11227604	11227604	+	Missense_Mutation	SNP	G	G	A	rs137929307		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:11227604G>A	ENST00000558518.1	+	12	1962	c.1775G>A	c.(1774-1776)gGg>gAg	p.G592E	LDLR_ENST00000545707.1_Missense_Mutation_p.G465E|LDLR_ENST00000557933.1_Missense_Mutation_p.G592E|LDLR_ENST00000535915.1_Missense_Mutation_p.G551E|LDLR_ENST00000455727.2_Missense_Mutation_p.G424E|LDLR_ENST00000558013.1_Missense_Mutation_p.G592E	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	592			G -> E (in FH; Sicily).		cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GATGTCAACGGGGGCAACCGG	0.537000													79	128					0	0	1	0	0
RNF219	79596	broad.mit.edu	37	13	79191252	79191252	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:79191252C>A	ENST00000282003.6	-	6	702	c.644G>T	c.(643-645)gGa>gTa	p.G215V	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	215							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TGCAAACCTTCCAAACCTACA	0.393000													27	19					2.2171e-23	2.27834e-23	1	1	0
ASB5	140458	broad.mit.edu	37	4	177143511	177143511	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:177143511C>T	ENST00000296525.3	-	3	450	c.337G>A	c.(337-339)Gga>Aga	p.G113R	ASB5_ENST00000511879.1_5'UTR|ASB5_ENST00000512254.1_Missense_Mutation_p.G60R	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	113					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ACGTGATCTCCAAGGCAGGCT	0.423000													65	40					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117715387	117715387	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:117715387A>T	ENST00000368508.3	-	10	1300	c.1102T>A	c.(1102-1104)Tta>Ata	p.L368I	ROS1_ENST00000368507.3_Missense_Mutation_p.L377I|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	368					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GAAGAAATTAATCCTGAACCT	0.373000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								19	5					0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11240222	11240222	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:11240222T>A	ENST00000558518.1	+	17	2610	c.2423T>A	c.(2422-2424)cTt>cAt	p.L808H	LDLR_ENST00000545707.1_Missense_Mutation_p.L630H|LDLR_ENST00000560628.1_Intron|LDLR_ENST00000557933.1_Missense_Mutation_p.F829I|LDLR_ENST00000535915.1_Missense_Mutation_p.L767H|LDLR_ENST00000455727.2_Missense_Mutation_p.L640H|LDLR_ENST00000558013.1_Missense_Mutation_p.L808H	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	808					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GGGGTCTTCCTTCTATGGAAG	0.552000													47	37					0	0	1	0	0
STRA6	64220	broad.mit.edu	37	15	74483560	74483560	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:74483560G>A	ENST00000323940.5	-	10	1058	c.813C>T	c.(811-813)ttC>ttT	p.F271F	STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000563965.1_Silent_p.F310F|STRA6_ENST00000395105.4_Silent_p.F271F|STRA6_ENST00000449139.2_Silent_p.F271F|STRA6_ENST00000535552.1_Silent_p.F308F|STRA6_ENST00000423167.2_Silent_p.F262F|STRA6_ENST00000574278.1_Silent_p.F286F|STRA6_ENST00000416286.3_Silent_p.F263F	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	271					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						CCCAGGACAGGAAGCCATGCT	0.637000													33	7					0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6554674	6554674	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:6554674G>A	ENST00000321612.6	-	19	2460	c.2310C>T	c.(2308-2310)atC>atT	p.I770I		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	770					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)	CTTACACTCCGATGGGCCCCA	0.527000													11	1					0	0	1	0	0
LCE1F	353137	broad.mit.edu	37	1	152749155	152749155	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:152749155C>T	ENST00000334371.2	+	1	308	c.308C>T	c.(307-309)tCc>tTc	p.S103F		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	103					keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCAGCGGGCTCCAGCTGCTGC	0.642000													36	41					0	0	1	0	0
PNMA5	114824	broad.mit.edu	37	X	152159755	152159755	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:152159755G>A	ENST00000439251.1	-	2	826	c.388C>T	c.(388-390)Cct>Tct	p.P130S	PNMA5_ENST00000535214.1_Missense_Mutation_p.P130S|PNMA5_ENST00000452693.1_Missense_Mutation_p.P130S|PNMA5_ENST00000361887.5_Missense_Mutation_p.P130S	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	130					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ctctcggcagggaggctgcaa	0.502000													111	11					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985056	140985056	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:140985056C>T	ENST00000298296.1	+	7	1512	c.1512C>T	c.(1510-1512)ttC>ttT	p.F504F	MAGEC3_ENST00000544766.1_Silent_p.F206F|MAGEC3_ENST00000536088.1_Silent_p.F206F|MAGEC3_ENST00000443323.2_Silent_p.F126F|MAGEC3_ENST00000409007.1_Silent_p.F206F	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	504	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCCATGAGTTCATAGAGCTAA	0.443000													60	10					0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31643289	31643289	+	Silent	SNP	A	A	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:31643289A>G	ENST00000375494.3	+	1	60	c.60A>G	c.(58-60)ccA>ccG	p.P20P		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	20	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										TGGCGACTCCATGCCAGGAGC	0.617000													11	97					0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7293967	7293967	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:7293967G>A	ENST00000537408.1	+	8	2027	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K	CLSTN3_ENST00000266546.6_Missense_Mutation_p.E485K			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	485					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						ACCCCGAAGGGAGCCTGCTCT	0.567000											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	99	100					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52861097	52861097	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:52861097A>C	ENST00000343457.3	-	4	2097	c.2091T>G	c.(2089-2091)tgT>tgG	p.C697W		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	697						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						TCTCCAACTCACAGCAAGTGT	0.522000													26	71					0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	24927579	24927579	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:24927579T>G	ENST00000533227.1	+	6	468	c.181T>G	c.(181-183)Tgt>Ggt	p.C61G	LUZP2_ENST00000336930.6_Missense_Mutation_p.C147G	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	147						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AAACAAGCTCTGTGGCATTCA	0.328000													22	21					0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11007825	11007825	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:11007825G>A	ENST00000377004.4	-	12	2366	c.2367C>T	c.(2365-2367)ctC>ctT	p.L789L	C1orf127_ENST00000377008.4_Silent_p.L622L	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	640										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GCTCCTGCTGGAGTGAGGCCC	0.627000													8	20					0	0	1	0	0
KRT85	3891	broad.mit.edu	37	12	52756677	52756677	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:52756677G>A	ENST00000257901.3	-	6	1113	c.1038C>T	c.(1036-1038)atC>atT	p.I346I	KRT85_ENST00000544265.1_Silent_p.I134I	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	346	Coil 2.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCAGCCTCTGGATCATGCGGT	0.587000													47	77					0	0	1	0	0
PALD1	27143	broad.mit.edu	37	10	72301249	72301249	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:72301249G>A	ENST00000263563.6	+	17	2348	c.2080G>A	c.(2080-2082)Gtg>Atg	p.V694M		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		GGAGGAGCTCGTGAGTGTGCC	0.627000													9	22					0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	33733715	33733715	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:33733715G>A	ENST00000354992.2	-	11	1775	c.1204C>T	c.(1204-1206)Ctg>Ttg	p.L402L	LARGE_ENST00000452586.2_Silent_p.L201L|LARGE_ENST00000337431.2_Intron|LARGE_ENST00000397394.2_Silent_p.L402L|LARGE_ENST00000402320.1_Intron|LARGE_ENST00000437602.2_Silent_p.L402L	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	402					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)				AGGAAGGTCAGGTAGAGGTTG	0.532000													48	55					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860285	16860285	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:16860285C>T	ENST00000524140.2	+	6	1250	c.832C>T	c.(832-834)Ctc>Ttc	p.L278F	NWD1_ENST00000552788.1_Missense_Mutation_p.L278F|NWD1_ENST00000549814.1_Missense_Mutation_p.L278F|NWD1_ENST00000379808.3_Missense_Mutation_p.L278F|NWD1_ENST00000339803.6_Missense_Mutation_p.L143F|NWD1_ENST00000523826.1_Missense_Mutation_p.L72F	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	278							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCACCAGGTCCTCACACGCCT	0.607000													14	29					0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7491976	7491976	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:7491976C>T	ENST00000399429.3	-	18	1623	c.1483G>A	c.(1483-1485)Gtg>Atg	p.V495M		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	495					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCAATTCCCACTGGTCCTCGA	0.398000													59	46					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145003384	145003384	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:145003384C>T	ENST00000322810.4	-	25	3727	c.3558G>A	c.(3556-3558)aaG>aaA	p.K1186K	PLEC_ENST00000398774.2_Silent_p.K1017K|PLEC_ENST00000354589.3_Silent_p.K1049K|PLEC_ENST00000356346.3_Silent_p.K1035K|PLEC_ENST00000527096.1_Silent_p.K1072K|PLEC_ENST00000345136.3_Silent_p.K1049K|PLEC_ENST00000354958.2_Silent_p.K1027K|PLEC_ENST00000436759.2_Silent_p.K1076K|PLEC_ENST00000357649.2_Silent_p.K1053K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1186	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGGCCAAGACCTTCTCGGCCT	0.682000													4	14					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160146383	160146383	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:160146383G>A	ENST00000368081.4	+	17	3052	c.2581G>A	c.(2581-2583)Gga>Aga	p.G861R	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	861					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATGGCCTATGGACAGATTGG	0.542000													10	34					0	0	1	0	0
C7orf43	55262	broad.mit.edu	37	7	99755311	99755311	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:99755311C>T	ENST00000316937.3	-	3	767	c.582G>A	c.(580-582)caG>caA	p.Q194Q	C7orf43_ENST00000419841.1_5'UTR|C7orf43_ENST00000457641.1_5'UTR	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	194										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGATCGGGTCTGCAGCAATC	0.577000											OREG0018198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	227					0	0	1	0	0
GM2A	2760	broad.mit.edu	37	5	150646406	150646406	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:150646406C>T	ENST00000357164.3	+	3	683	c.358C>T	c.(358-360)Cct>Tct	p.P120S		NM_000405.4|NM_001167607.1	NP_000396.2|NP_001161079.1	P17900	SAP3_HUMAN	GM2 ganglioside activator	120						lysosome|nucleolus	sphingolipid activator protein activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATGTTAATTCCTACTGGGGA	0.532000													60	15					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13762910	13762910	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:13762910C>T	ENST00000265104.4	-	60	10306	c.10202G>A	c.(10201-10203)gGa>gAa	p.G3401E	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3401	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGCTACATTTCCACATACGCG	0.408000									Kartagener syndrome				5	45					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9013857	9013857	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:9013857G>A	ENST00000397910.4	-	33	38736	c.38533C>T	c.(38533-38535)Ccc>Tcc	p.P12845S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12847				Missing (in Ref. 3; AAK74120).	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						GTAGGGCTGGGGAGGGAGGAT	0.478000													14	20					0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247614950	247614950	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:247614950C>T	ENST00000318749.6	-	1	358	c.335G>A	c.(334-336)gGa>gAa	p.G112E		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CTCCGTGCATCCCAGCCAGTG	0.592000													43	33					0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66943216	66943216	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:66943216C>T	ENST00000299752.4	-	17	2539	c.2346G>A	c.(2344-2346)acG>acA	p.T782T	CDH16_ENST00000565796.1_Silent_p.T743T|CDH16_ENST00000568632.1_Silent_p.T685T|CDH16_ENST00000570262.1_Silent_p.T702T|CDH16_ENST00000394055.3_Silent_p.T760T	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	782	Ectodomain G.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCGACAGCTTCGTGGGCATGC	0.617000													45	33					0	0	1	0	0
GSTM5	2949	broad.mit.edu	37	1	110259984	110259984	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:110259984T>C	ENST00000369812.5	+	8	721	c.650T>C	c.(649-651)aTg>aCg	p.M217T	GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000369813.1_3'UTR|GSTM5_ENST00000256593.3_Missense_Mutation_p.M198T			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	198					xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TCTGCCTACATGAAGTCCAGC	0.542000													5	168					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7651689	7651689	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:7651689C>T	ENST00000359156.4	-	4	755	c.553G>A	c.(553-555)Gat>Aat	p.D185N	CD163_ENST00000541972.1_Missense_Mutation_p.D173N|CD163_ENST00000396620.3_Missense_Mutation_p.D185N|CD163_ENST00000432237.2_Missense_Mutation_p.D185N	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	185	SRCR 2.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AAGTTATCATCACACACTGTT	0.428000													55	130					0	0	1	0	0
ADTRP	84830	broad.mit.edu	37	6	11735908	11735908	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:11735908G>A	ENST00000414691.3	-	4	809	c.399C>T	c.(397-399)ttC>ttT	p.F133F	ADTRP_ENST00000514824.1_5'UTR|ADTRP_ENST00000229583.5_Silent_p.F151F|ADTRP_ENST00000379413.2_Silent_p.F133F	NM_032744.3	NP_116133.1	Q96IZ2	CF105_HUMAN	androgen-dependent TFPI-regulating protein	133						integral to membrane											TGGGGAATATGAAAGTGTGCT	0.507000													19	17					0	0	1	0	0
HAPLN1	1404	broad.mit.edu	37	5	82940460	82940460	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:82940460C>T	ENST00000274341.4	-	4	1347	c.497G>A	c.(496-498)cGa>cAa	p.R166Q		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	166	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.R166Q(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		GCGCCCCAGTCGTGGAAAGTA	0.537000													23	6					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26592111	26592111	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:26592111G>A	ENST00000381340.3	-	47	7008	c.6592C>T	c.(6592-6594)Cag>Tag	p.Q2198*		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2198					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TCTGTTTGCTGGAAAAAGTCA	0.378000													28	69					0	0	1	0	0
ABHD16A	7920	broad.mit.edu	37	6	31655430	31655430	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:31655430G>A	ENST00000375842.4	-	18	1864	c.878C>T	c.(877-879)cCc>cTc	p.P293L	ABHD16A_ENST00000471644.1_5'UTR|ABHD16A_ENST00000395952.3_Missense_Mutation_p.P512L|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000440843.2_Missense_Mutation_p.P479L			O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	512						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						CACGCTCCAGGGGAAGTCGGG	0.597000													4	59					0	0	1	0	0
NUPR1	26471	broad.mit.edu	37	16	28549463	28549463	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:28549463C>T	ENST00000324873.6	-	2	392	c.126G>A	c.(124-126)cgG>cgA	p.R42R	NUPR1_ENST00000395641.2_Silent_p.R60R	NM_001042483.1|NM_012385.2	NP_001035948.1|NP_036517.1	O60356	NUPR1_HUMAN	nuclear protein, transcriptional regulator, 1	42					cell growth|induction of apoptosis	nucleus				breast(1)|large_intestine(1)|lung(1)	3						TGCGACCTTTCCGGCCTCCAC	0.597000													34	89					0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119239661	119239661	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:119239661G>A	ENST00000296498.3	-	5	1304	c.1022C>T	c.(1021-1023)cCa>cTa	p.P341L		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	341	SRCR 2.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CAACATAACTGGGCCAGACCC	0.448000													17	34					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77623762	77623762	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:77623762G>A	ENST00000461745.1	+	14	2984	c.2084G>A	c.(2083-2085)cGa>cAa	p.R695Q	ROBO2_ENST00000332191.8_Missense_Mutation_p.R695Q|ROBO2_ENST00000487694.3_Missense_Mutation_p.R711Q	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	695	Fibronectin type-III 2.				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	p.R695Q(1)		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)		CCGACTGAACGAAGTGCTGTC	0.443000													20	4					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90501597	90501597	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:90501597A>C	ENST00000325643.5	+	4	2261	c.2195A>C	c.(2194-2196)gAa>gCa	p.E732A		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		GCTCTGGACGAAGACAAGGAG	0.557000													12	25					0	0	1	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145724400	145724400	+	Silent	SNP	G	G	A	rs114186172	by1000genomes	TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:145724400G>A	ENST00000292539.4	+	4	1349	c.432G>A	c.(430-432)gcG>gcA	p.A144A	CTD-2517M14.5_ENST00000569326.1_RNA|PPP1R16A_ENST00000435887.1_Silent_p.A144A|CTD-2517M22.14_ENST00000532766.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	144						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGCATGCTGCGGCCACCTGCG	0.627000													9	88					0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25023936	25023936	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:25023936C>T	ENST00000400382.1	+	13	2081	c.1326C>T	c.(1324-1326)ttC>ttT	p.F442F	GGT1_ENST00000406383.2_Silent_p.F442F|GGT1_ENST00000404223.1_Silent_p.F98F|GGT1_ENST00000404920.1_Silent_p.F98F|GGT1_ENST00000401885.1_Silent_p.F98F|GGT1_ENST00000403838.1_Silent_p.F98F|GGT1_ENST00000248923.4_Silent_p.F442F|GGT1_ENST00000400383.1_Silent_p.F442F|GGT1_ENST00000404532.1_Silent_p.F98F|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000400380.1_Silent_p.F442F			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	442					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CTGCCAATTTCATCCAGCCAG	0.627000													140	173					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2071188	2071188	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:2071188G>A	ENST00000262113.4	+	29	3658	c.3517G>A	c.(3517-3519)Gag>Aag	p.E1173K	MYOM2_ENST00000523438.1_Missense_Mutation_p.E598K	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1173	Ig-like C2-type 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GTATGAAACGGAGACACTGCC	0.423000													49	65					0	0	1	0	0
PSMD3	5709	broad.mit.edu	37	17	38142889	38142889	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:38142889C>T	ENST00000264639.4	+	3	647	c.473C>T	c.(472-474)cCc>cTc	p.P158L	PSMD3_ENST00000541736.1_Missense_Mutation_p.P20L	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	158				TP -> NT (in Ref. 5; AAH12302).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					GCGTCGACACCCCTCCTGCCT	0.532000													156	23					0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159568321	159568321	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:159568321G>A	ENST00000307765.5	+	16	1975	c.1724G>A	c.(1723-1725)gGa>gAa	p.G575E	RXFP1_ENST00000343542.5_Missense_Mutation_p.G527E|RXFP1_ENST00000448688.2_Missense_Mutation_p.G470E|RXFP1_ENST00000460056.2_Missense_Mutation_p.G494E|RXFP1_ENST00000470033.1_Missense_Mutation_p.G542E	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	575						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GAAAGTATTGGAGCCCAGATT	0.333000													8	38					0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2422097	2422097	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:2422097G>A	ENST00000332578.3	+	13	2298	c.2298G>A	c.(2296-2298)ggG>ggA	p.G766G		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	766					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTCCCGGGGGCCACACCCA	0.657000													33	54					0	0	1	0	0
FAM159A	348378	broad.mit.edu	37	1	53122568	53122568	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:53122568G>A	ENST00000517870.1	+	3	579	c.429G>A	c.(427-429)caG>caA	p.Q143Q	FAM159A_ENST00000401050.3_Intron	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	143						integral to membrane				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						TGAACCCGCAGCTGGAGAGCA	0.572000													43	84					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176640232	176640232	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:176640232G>C	ENST00000367662.3	+	4	3282	c.2118G>C	c.(2116-2118)aaG>aaC	p.K706N	PAPPA2_ENST00000367661.3_Missense_Mutation_p.K706N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	706	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTTGGGACAAGGACGCTGTCA	0.498000													10	21					0	0	1	0	0
GATAD2B	57459	broad.mit.edu	37	1	153800618	153800618	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:153800618C>A	ENST00000368655.4	-	2	449	c.206G>T	c.(205-207)gGc>gTc	p.G69V		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	69						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GACACCACTGCCATCCTGTTT	0.478000													10	138					1.5842e-08	1.60859e-08	1	1	0
KCNJ5	3762	broad.mit.edu	37	11	128781893	128781893	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:128781893G>A	ENST00000529694.1	+	2	1101	c.725G>A	c.(724-726)cGg>cAg	p.R242Q	KCNJ5_ENST00000533599.1_Missense_Mutation_p.R242Q|KCNJ5_ENST00000338350.4_Missense_Mutation_p.R242Q	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	242					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	ATCAAGTCCCGGCAGACCAAA	0.612000													52	8					0	0	1	0	0
CSDE1	7812	broad.mit.edu	37	1	115266543	115266543	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:115266543G>A	ENST00000438362.2	-	16	2350	c.1972C>T	c.(1972-1974)Cag>Tag	p.Q658*	CSDE1_ENST00000530886.1_Nonsense_Mutation_p.Q482*|CSDE1_ENST00000534699.1_Nonsense_Mutation_p.Q612*|CSDE1_ENST00000339438.6_Nonsense_Mutation_p.Q581*|CSDE1_ENST00000369530.1_Nonsense_Mutation_p.Q627*|CSDE1_ENST00000261443.5_Nonsense_Mutation_p.Q581*|CSDE1_ENST00000358528.4_Nonsense_Mutation_p.Q612*	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	612	CSD 8.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCAGTCTGTGTTGGATCA	0.438000													175	163					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13708340	13708340	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:13708340G>A	ENST00000265104.4	-	76	13334	c.13230C>T	c.(13228-13230)acC>acT	p.T4410T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4410					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCTCAGTGAGGGTGCTGCGGA	0.483000									Kartagener syndrome				21	167					0	0	1	0	0
IGHV3-21	28444	broad.mit.edu	37	14	106691916	106691916	+	RNA	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:106691916G>A	ENST00000390607.2	-	0	186																											AGAGTCTCAGGGACCCCCCAG	0.587000													87	15					0	0	1	0	0
CYP26A1	1592	broad.mit.edu	37	10	94836975	94836975	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:94836975G>A	ENST00000371531.1	+	7	1579	c.1201G>A	c.(1201-1203)Gga>Aga	p.G401R	CYP26A1_ENST00000394139.1_Missense_Mutation_p.G401R|CYP26A1_ENST00000224356.4_Missense_Mutation_p.G470R	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	470					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				GCTTCTAAATGGACCTCCTAC	0.453000													24	43					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79419781	79419781	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:79419781G>A	ENST00000307745.7	+	18	4349	c.4349G>A	c.(4348-4350)cGg>cAg	p.R1450Q																								CCTGCACGGCGGGGGCCTGGC	0.677000													5	7					0	0	1	0	0
F10	2159	broad.mit.edu	37	13	113798296	113798296	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:113798296G>A	ENST00000375559.3	+	6	672	c.634G>A	c.(634-636)Gag>Aag	p.E212K	F10_ENST00000375551.3_Missense_Mutation_p.E212K|F10_ENST00000409306.1_Missense_Mutation_p.E212K	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	212					blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGACCCCACCGAGAACCCCTT	0.627000													32	84					0	0	1	0	0
WFDC10B	280664	broad.mit.edu	37	20	44313599	44313599	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:44313599C>T	ENST00000330523.5	-	4	322	c.91_splice	c.e4-1	p.R31_splice	WFDC10B_ENST00000335769.2_Splice_Site_p.G47_splice	NM_172006.2	NP_742003.1	Q8IUB3	WF10B_HUMAN	WAP four-disulfide core domain 10B	31	WAP.					extracellular region	peptidase inhibitor activity			lung(2)|ovary(1)|stomach(1)	4		Myeloproliferative disorder(115;0.0122)				GACCTTGATTCCTGAAATGAT	0.478000													24	29					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432921	104432921	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:104432921C>T	ENST00000361820.3	-	3	2373	c.1773G>A	c.(1771-1773)atG>atA	p.M591I		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	591					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGTCAAAGTTCATGTCTTCTG	0.448000													3	12					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33569341	33569341	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:33569341C>T	ENST00000321505.4	+	3	2706	c.2526C>T	c.(2524-2526)atC>atT	p.I842I	KIAA1549L_ENST00000265654.5_Silent_p.I848I|KIAA1549L_ENST00000389726.3_Silent_p.I848I					KIAA1549-like																		GAGTGCAGATCAGTGAATCCT	0.488000													10	12					0	0	1	0	0
SUPT20H	55578	broad.mit.edu	37	13	37583908	37583908	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:37583908T>C	ENST00000360252.4	-	25	2387	c.2140A>G	c.(2140-2142)Agc>Ggc	p.S714G	SUPT20H_ENST00000356185.3_Missense_Mutation_p.S714G|SUPT20H_ENST00000475892.1_Missense_Mutation_p.S792G|SUPT20H_ENST00000350612.6_Silent_p.A747A|SUPT20H_ENST00000464744.1_Missense_Mutation_p.S714G	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1			suppressor of Ty 20 homolog (S. cerevisiae)																		GTGCTGCTGCTGCTGCCATAG	0.458000													16	74					0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14507996	14507996	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:14507996C>T	ENST00000242786.5	+	6	666	c.586C>T	c.(586-588)Ccg>Tcg	p.P196S	CD97_ENST00000587728.1_Intron|CD97_ENST00000358600.3_Intron|CD97_ENST00000357355.3_Intron	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	196	EGF-like 4; calcium-binding (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCAACCGATTCCGGGGTCCCC	0.587000													49	93					0	0	1	0	0
QRFPR	84109	broad.mit.edu	37	4	122301782	122301782	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:122301782G>A	ENST00000394427.2	-	1	432	c.21C>T	c.(19-21)acC>acT	p.T7T	QRFPR_ENST00000334383.5_Silent_p.T7T	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	7						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						ACTGCTCCGGGGTAATGTTAA	0.682000													4	14					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25330436	25330436	+	RNA	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:25330436G>A	ENST00000546682.1	+	0	420				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						GTGTGGCATGGGCTCCTTCAG	0.527000													12	1					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22923846	22923846	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:22923846A>G	ENST00000166244.3	+	10	1879	c.1807A>G	c.(1807-1809)Aag>Gag	p.K603E		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	603						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCCCCCGGGAAAGCTCCCAGA	0.642000													38	79					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188633	140188633	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:140188633C>T	ENST00000530339.1	+	1	1861	c.1861C>T	c.(1861-1863)Ccg>Tcg	p.P621S	PCDHA4_ENST00000356878.4_Missense_Mutation_p.P621S|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.P621S	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)			CGCGCGCATCCCGTTCCGCGT	0.672000													111	20					0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111970318	111970318	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:111970318C>T	ENST00000374566.3	-	18	2281	c.1764G>A	c.(1762-1764)aaG>aaA	p.K588K		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	588						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCGAGACTTTCTTTTCTTCAG	0.398000													23	31					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53573081	53573081	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:53573081G>A	ENST00000601421.1	-	3	1474	c.598C>T	c.(598-600)Cat>Tat	p.H200Y	ZNF160_ENST00000418871.1_Missense_Mutation_p.H236Y|ZNF160_ENST00000599056.1_Missense_Mutation_p.H236Y|ZNF160_ENST00000429604.1_Missense_Mutation_p.H236Y			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	236					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTAAGTTCATGATATTTTTTA	0.368000													39	64					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219875643	219875643	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:219875643C>T	ENST00000341552.5	-	25	4116	c.4033G>A	c.(4033-4035)Gaa>Aaa	p.E1345K	CCDC108_ENST00000453220.1_Missense_Mutation_p.E1345K|CCDC108_ENST00000441968.1_Missense_Mutation_p.E1345K|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1345						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAATTTTTTTCCTGAACCTGT	0.507000													23	9					0	0	1	0	0
ZNF561	93134	broad.mit.edu	37	19	9721471	9721471	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:9721471G>A	ENST00000302851.3	-	6	1229	c.866C>T	c.(865-867)tCc>tTc	p.S289F	ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000354661.4_Missense_Mutation_p.S153F|ZNF561_ENST00000424629.1_Missense_Mutation_p.S220F	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						ATTTCTAAAGGATCTTCCACA	0.358000													22	35					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4777018	4777018	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:4777018G>A	ENST00000354582.6	+	43	5829	c.5479G>A	c.(5479-5481)Gga>Aga	p.G1827R	ITPR1_ENST00000456211.2_Missense_Mutation_p.G1779R|ITPR1_ENST00000443694.2_Missense_Mutation_p.G1827R|ITPR1_ENST00000423119.2_Missense_Mutation_p.G1794R|ITPR1_ENST00000357086.4_Missense_Mutation_p.G1794R|ITPR1_ENST00000302640.8_Missense_Mutation_p.G1827R|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1842					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CCTTCTGGAAGGAGGCAACAC	0.547000													48	8					0	0	1	0	0
SIGLECL1	284369	broad.mit.edu	37	19	51769074	51769074	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:51769074C>T	ENST00000316401.7	+	4	729	c.348C>T	c.(346-348)atC>atT	p.I116I	SIGLECL1_ENST00000593968.1_3'UTR|CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000597824.1_Silent_p.I22I	NM_173635.1	NP_775906.1			SIGLEC family like 1																		AAGGGCTGATCCAGGGTGCTA	0.512000													157	204					0	0	1	0	0
AGO3	192669	broad.mit.edu	37	1	36505490	36505490	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:36505490C>T	ENST00000373191.4	+	15	2291	c.1942C>T	c.(1942-1944)Cgg>Tgg	p.R648W	AGO3_ENST00000246314.6_Missense_Mutation_p.R414W	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3																		CTCCATGGTCCGGGAACTTCT	0.483000													20	66					0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15757899	15757899	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:15757899C>T	ENST00000221307.7	+	4	429	c.381C>T	c.(379-381)ttC>ttT	p.F127F	CYP4F3_ENST00000585846.1_Silent_p.F127F|CYP4F3_ENST00000586182.1_Silent_p.F127F|CYP4F3_ENST00000591058.1_Silent_p.F127F	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	127					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TCTACAGCTTCCTGAAGCCCT	0.582000													30	63					0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102337762	102337762	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:102337762C>T	ENST00000395065.3	-	8	807	c.706G>A	c.(706-708)Gat>Aat	p.D236N	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.D147N	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	236						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						ATCTTAGTATCACGGTTCACC	0.522000													63	9					0	0	1	0	0
IL4	3565	broad.mit.edu	37	5	132018195	132018195	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:132018195G>A	ENST00000231449.2	+	4	443	c.378G>A	c.(376-378)aaG>aaA	p.K126K	IL4_ENST00000350025.2_Silent_p.K110K	NM_000589.3	NP_000580.1	P05112	IL4_HUMAN	interleukin 4	126					B cell differentiation|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|T-helper 2 cell cytokine production	extracellular space	cytokine activity|growth factor activity|interleukin-4 receptor binding			NS(1)|large_intestine(3)|lung(3)|prostate(1)	8		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)		GTCCTGTGAAGGAAGCCAACC	0.398000													37	8					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117662760	117662760	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:117662760G>A	ENST00000368508.3	-	29	4903	c.4705C>T	c.(4705-4707)Cgg>Tgg	p.R1569W	ROS1_ENST00000368507.3_Missense_Mutation_p.R1563W|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1569	Fibronectin type-III 7.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GTGTCTGACCGCACAGTTGTA	0.428000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								8	18					0	0	1	0	0
POLG	5428	broad.mit.edu	37	15	89869920	89869920	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:89869920G>A	ENST00000268124.5	-	9	1968	c.1635C>T	c.(1633-1635)gcC>gcT	p.A545A	POLG_ENST00000442287.2_Silent_p.A545A	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	545					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			AGCAGGCGCGGGCCATGACAT	0.617000								DNA polymerases (catalytic subunits)					30	9					0	0	1	0	0
ACTG2	72	broad.mit.edu	37	2	74140759	74140759	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:74140759C>T	ENST00000409624.1	+	7	1242	c.599C>T	c.(598-600)tCc>tTc	p.S200F	ACTG2_ENST00000409731.3_Missense_Mutation_p.S157F|ACTG2_ENST00000345517.3_Missense_Mutation_p.S200F			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	200					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						AGAGGCTATTCCTTTGTGACC	0.512000													56	18					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10112322	10112322	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:10112322T>A	ENST00000264828.3	-	8	1073	c.988A>T	c.(988-990)Acc>Tcc	p.T330S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	330	Nonhelical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCCAGCTCGGTTCCACTGTCA	0.562000											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	42					0	0	1	0	0
AMZ1	155185	broad.mit.edu	37	7	2752276	2752276	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:2752276G>A	ENST00000312371.4	+	7	1629	c.1261G>A	c.(1261-1263)Gaa>Aaa	p.E421K	AMZ1_ENST00000407112.1_3'UTR|AMZ1_ENST00000489665.1_Intron	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	421							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CCTGCAGCGGGAAGTGGCAGA	0.697000													14	33					0	0	1	0	0
ARHGAP15	55843	broad.mit.edu	37	2	143973980	143973980	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:143973980A>C	ENST00000409869.1	+	5	439	c.262A>C	c.(262-264)Aaa>Caa	p.K88Q	ARHGAP15_ENST00000295095.6_Missense_Mutation_p.K88Q			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	88	PH.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TTATCTGCAAAAAGCTAAAAT	0.313000													12	33					0	0	1	0	0
CNOT11	55571	broad.mit.edu	37	2	101883186	101883186	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:101883186C>T	ENST00000289382.3	+	5	1246	c.1083C>T	c.(1081-1083)ggC>ggT	p.G361G		NM_017546.4	NP_060016.3			CCR4-NOT transcription complex, subunit 11																		ACCATATTGGCCTCACCCCAG	0.423000													43	94					0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57171796	57171796	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:57171796G>A	ENST00000371244.4	+	8	1391	c.1325G>A	c.(1324-1326)aGa>aAa	p.R442K		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	442					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						CGTGTAAGAAGAAAAAATCCA	0.308000													16	39					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38481998	38481998	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:38481998C>T	ENST00000263409.4	-	20	3155	c.2993G>A	c.(2992-2994)gGg>gAg	p.G998E	LIFR_ENST00000453190.2_Missense_Mutation_p.G998E	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	998					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATAGCCTGCCCCTCCTACAGG	0.458000			T	PLAG1	salivary adenoma								32	42					0	0	1	0	0
PRKD3	23683	broad.mit.edu	37	2	37543574	37543574	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:37543574G>A	ENST00000379066.1	-	2	856	c.94C>T	c.(94-96)Cct>Tct	p.P32S	PRKD3_ENST00000234179.2_Missense_Mutation_p.P32S			O94806	KPCD3_HUMAN	protein kinase D3	32					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				CCCGTCTTAGGACTTGAACAC	0.498000													7	61					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31914898	31914898	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:31914898G>A	ENST00000456570.1	+	15	1974	c.1919G>A	c.(1918-1920)cGg>cAg	p.R640Q	CFB_ENST00000477310.1_Missense_Mutation_p.R489Q|CFB_ENST00000556679.1_Missense_Mutation_p.R640Q|CFB_ENST00000425368.2_Missense_Mutation_p.R138Q			P00751	CFAB_HUMAN	complement factor B	138	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TACACTCTCCGGGGCTCTGCC	0.562000													4	185					0	0	1	0	0
MTA2	9219	broad.mit.edu	37	11	62361854	62361854	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:62361854G>A	ENST00000278823.2	-	17	2107	c.1718C>T	c.(1717-1719)tCt>tTt	p.S573F	MTA2_ENST00000524902.1_Missense_Mutation_p.S400F|MTA2_ENST00000527204.1_Missense_Mutation_p.S400F	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	573					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						TCCATTGGCAGAGAAAGGAAC	0.557000													11	13					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22248889	22248889	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:22248889C>T	ENST00000324559.8	+	7	722	c.405C>T	c.(403-405)gcC>gcT	p.A135A		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	135						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGATCCATGCCCCTTGGGAGG	0.413000													14	17					0	0	1	0	0
MTPN	136319	broad.mit.edu	37	7	135636300	135636300	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:135636300G>A	ENST00000393085.3	-	2	366	c.151C>T	c.(151-153)Ctg>Ttg	p.L51L	MTPN_ENST00000435723.1_Intron	NM_001128619.2|NM_145808.3	NP_001122091.2|NP_665807.1	P58546	MTPN_HUMAN	myotrophin	51					cell growth|regulation of striated muscle tissue development|regulation of translation	cytoplasm	protein binding			endometrium(1)|lung(4)|prostate(1)	6						AGAAATTCCAGGATTTCAAGC	0.388000													23	47					0	0	1	0	0
KRTAP21-2	337978	broad.mit.edu	37	21	32119353	32119353	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr21:32119353G>A	ENST00000333892.2	-	1	198	c.168C>T	c.(166-168)ggC>ggT	p.G56G		NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	56						intermediate filament				lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						catatccacagccagagccgt	0.512000													22	50					0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72416259	72416259	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:72416259C>T	ENST00000333850.3	+	9	1290	c.1149C>T	c.(1147-1149)tcC>tcT	p.S383S		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	383					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)	TCCTTTCCTCCATTGGAGAAT	0.423000													14	18					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133196544	133196544	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:133196544C>T	ENST00000388996.4	-	3	968	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	KCNQ3_ENST00000519445.1_Missense_Mutation_p.R183Q|KCNQ3_ENST00000521134.1_Missense_Mutation_p.R63Q	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	183					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GCCTTTGTATCGGCAGCAACA	0.547000													51	88					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79589264	79589264	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:79589264G>A	ENST00000372391.2	-	12	2039	c.2034C>T	c.(2032-2034)atC>atT	p.I678I	DLG5_ENST00000372388.2_Silent_p.I678I	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	678	PDZ 1.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCACATCGTTGATTCTCAGCA	0.592000													69	83					0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7895934	7895934	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:7895934C>T	ENST00000377532.3	+	19	3551	c.3327C>T	c.(3325-3327)gcC>gcT	p.A1109A	PER3_ENST00000361923.2_Silent_p.A1100A			P56645	PER3_HUMAN	period circadian clock 3	1100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CTAATGTCGCCGAAGAGCCCA	0.423000													17	39					0	0	1	0	0
CHRNA2	1135	broad.mit.edu	37	8	27324800	27324800	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:27324800G>A	ENST00000407991.1	-	5	1003	c.395C>T	c.(394-396)tCt>tTt	p.S132F	CHRNA2_ENST00000240132.2_Missense_Mutation_p.S117F|CHRNA2_ENST00000520933.2_Missense_Mutation_p.S132F	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	132						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	GACCCTGAGAGATGTGATGTT	0.547000													30	70					0	0	1	0	0
KCNAB2	8514	broad.mit.edu	37	1	6147560	6147560	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:6147560C>T	ENST00000164247.1	+	8	924	c.360C>T	c.(358-360)ttC>ttT	p.F120F	KCNAB2_ENST00000378092.1_Silent_p.F106F|KCNAB2_ENST00000378083.3_Silent_p.F153F|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000352527.1_Silent_p.F106F|KCNAB2_ENST00000341524.1_Silent_p.F120F|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000602612.1_Silent_p.F120F|KCNAB2_ENST00000378097.1_Silent_p.F120F|KCNAB2_ENST00000458166.2_Silent_p.F53F	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	120						cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		CCAAGATCTTCTGGGGCGGAA	0.642000													52	50					0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18691786	18691786	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:18691786G>A	ENST00000251296.1	+	6	993	c.610G>A	c.(610-612)Ggc>Agc	p.G204S		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	204						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		TGCGAGCTCCGGCCCCCTACA	0.582000													32	59					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151176362	151176362	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:151176362G>A	ENST00000282466.3	-	1	135	c.136C>T	c.(136-138)Cgg>Tgg	p.R46W		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	46	LRRNT.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTCAGGTACCGAAATGTGCAG	0.557000													60	64					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137734005	137734005	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:137734005C>T	ENST00000371817.3	+	66	5787	c.5373C>T	c.(5371-5373)acC>acT	p.T1791T		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1791	Fibrillar collagen NC1.				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)		TTCCCCAGACCAAGAAAGGCT	0.547000													19	43					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103274193	103274193	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:103274193G>T	ENST00000233969.2	+	2	602	c.460G>T	c.(460-462)Ggc>Tgc	p.G154C		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	154						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GCTGGATGCCGGCTATTTCAT	0.478000													235	65					5.96336e-116	6.18059e-116	1	1	0
TTN	7273	broad.mit.edu	37	2	179638758	179638758	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:179638758G>A	ENST00000589042.1	-	31	7361	c.7137C>T	c.(7135-7137)gtC>gtT	p.V2379V	TTN_ENST00000360870.5_Silent_p.V2379V|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Silent_p.V2379V|TTN_ENST00000359218.5_Silent_p.V2333V|TTN_ENST00000460472.2_Silent_p.V2333V|TTN_ENST00000342175.6_Silent_p.V2333V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.V2379V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2101	Ig-like 13.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCCAAGGAGACTTTAACTT	0.468000													54	7					0	0	1	0	0
PRR22	163154	broad.mit.edu	37	19	5784033	5784033	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:5784033G>A	ENST00000419421.2	-	3	329	c.225C>T	c.(223-225)ttC>ttT	p.F75F	CTB-54O9.9_ENST00000586012.1_3'UTR	NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	73										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						TGCGGGGGTCGAAGAAGCACC	0.697000													4	13					0	0	1	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153870694	153870694	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:153870694T>A	ENST00000356448.4	+	6	1744	c.1460T>A	c.(1459-1461)aTt>aAt	p.I487N	ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.I487N	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	487	DH.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						TTCTCCAATATTACAGATGTC	0.378000													2	4					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107703395	107703395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:107703395G>A	ENST00000388781.3	-	23	3189	c.3106C>T	c.(3106-3108)Cct>Tct	p.P1036S	LAMB4_ENST00000388780.3_Missense_Mutation_p.P1036S|LAMB4_ENST00000205386.4_Missense_Mutation_p.P1036S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1036	Laminin EGF-like 11.				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						CCCCCACCAGGGGGACACTCC	0.537000													21	41					0	0	1	0	0
CD226	10666	broad.mit.edu	37	18	67614074	67614074	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr18:67614074A>G	ENST00000280200.4	-	3	546	c.278T>C	c.(277-279)cTt>cCt	p.L93P	CD226_ENST00000577287.1_Intron|CD226_ENST00000582621.1_Missense_Mutation_p.L93P|CD226_ENST00000581982.1_Intron	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	93	Ig-like C2-type 1.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				CCGAAAGAAAAGAGTCATGTT	0.443000													11	20					0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40657439	40657439	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:40657439G>A	ENST00000267889.3	+	6	898	c.811G>A	c.(811-813)Gac>Aac	p.D271N		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	271					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GCCCCTGGAGGACAGAAGGCA	0.612000													34	2					0	0	1	0	0
REV1	51455	broad.mit.edu	37	2	100022402	100022402	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:100022402G>A	ENST00000258428.3	-	17	3009	c.2781C>T	c.(2779-2781)aaC>aaT	p.N927N	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Silent_p.N926N	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	927					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTATACTCAGGTTAAGTCTCG	0.398000								Direct reversal of damage					60	15					0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38775153	38775153	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:38775153C>T	ENST00000308973.4	-	4	2664	c.2059G>A	c.(2059-2061)Gag>Aag	p.E687K	TLR10_ENST00000508334.1_Missense_Mutation_p.E687K|TLR10_ENST00000506111.1_Missense_Mutation_p.E687K|TLR10_ENST00000361424.2_Missense_Mutation_p.E687K	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	687	TIR.				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						TAGCTTTTCTCAATGAAGCTT	0.388000													64	35					0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	484712	484712	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:484712G>A	ENST00000264938.3	-	5	864	c.855C>T	c.(853-855)atC>atT	p.I285I	SLC9A3_ENST00000514375.1_Silent_p.I285I	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	285						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AGCCGGGCTCGATGATACGCA	0.622000													6	63					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3680096	3680096	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:3680096G>A	ENST00000344754.4	-	7	1538	c.1539C>T	c.(1537-1539)ctC>ctT	p.L513L	SIGLEC1_ENST00000202578.4_Silent_p.L513L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	513	Ig-like C2-type 5.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGCTGATGAGGAGACGGGCGG	0.627000													20	13					0	0	1	0	0
STRIP2	57464	broad.mit.edu	37	7	129103954	129103954	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:129103954C>T	ENST00000249344.2	+	15	1661	c.1621C>T	c.(1621-1623)Ctg>Ttg	p.L541L	STRIP2_ENST00000435494.2_Silent_p.L541L	NM_020704.2	NP_065755.1			striatin interacting protein 2																		TATCAATATCCTGGCAGATGT	0.493000													29	50					0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44147811	44147811	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:44147811G>A	ENST00000398776.1	+	14	1589	c.1551G>A	c.(1549-1551)ggG>ggA	p.G517G	CAPN11_ENST00000542245.1_Silent_p.G517G	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	517	Domain III.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGCCTCCGGGGGAATATATCA	0.532000													49	45					0	0	1	0	0
TRAIP	10293	broad.mit.edu	37	3	49877783	49877783	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:49877783C>T	ENST00000331456.2	-	9	842	c.729G>A	c.(727-729)ttG>ttA	p.L243L	TRAIP_ENST00000469027.1_Silent_p.L88L	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	243	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGGCCTGATCCAATTCAGAGT	0.517000													64	6					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31593911	31593911	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:31593911G>T	ENST00000376033.2	+	9	1188	c.954G>T	c.(952-954)ttG>ttT	p.L318F	PRRC2A_ENST00000469577.1_3'UTR|PRRC2A_ENST00000376007.4_Missense_Mutation_p.L318F	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	318	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TTGATCAGTTGGATCAGGAGA	0.468000													3	99					0.0215528	0.0215974	1	1	0
RET	5979	broad.mit.edu	37	10	43614995	43614995	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:43614995C>T	ENST00000355710.3	+	14	2641	c.2409C>T	c.(2407-2409)atC>atT	p.I803I	RET_ENST00000340058.5_Silent_p.I803I	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	803	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TCCTCCTCATCGTGGAGTACG	0.706000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				2	1					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106927072	106927072	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:106927072C>T	ENST00000369701.3	+	13	2093	c.1866C>T	c.(1864-1866)gcC>gcT	p.A622A		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	622						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCCTCGTGGCCATGAAACACA	0.458000													11	22					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21628998	21628998	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:21628998C>T	ENST00000328843.6	+	12	2177	c.2146C>T	c.(2146-2148)Ctc>Ttc	p.L716F	DNAH11_ENST00000409508.3_Missense_Mutation_p.L716F			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	716	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAATGGTCTTCTCTGTGTCAA	0.313000									Kartagener syndrome				25	55					0	0	1	0	0
WASF1	8936	broad.mit.edu	37	6	110424720	110424720	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:110424720G>A	ENST00000392589.1	-	9	1590	c.754C>T	c.(754-756)Ctt>Ttt	p.L252F	WASF1_ENST00000392586.1_Missense_Mutation_p.L252F|WASF1_ENST00000359451.2_Missense_Mutation_p.L252F|WASF1_ENST00000392588.1_Missense_Mutation_p.L252F|WASF1_ENST00000392587.2_Missense_Mutation_p.L252F	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	252					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		AAGGCAGAAAGTGAGTAAGAT	0.413000													42	7					0	0	1	0	0
ENTPD8	377841	broad.mit.edu	37	9	140331055	140331055	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:140331055G>A	ENST00000371506.2	-	6	887	c.704C>T	c.(703-705)tCc>tTc	p.S235F	ENTPD8_ENST00000472938.1_Missense_Mutation_p.S235F|ENTPD8_ENST00000344119.2_Missense_Mutation_p.S235F	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	235						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GCTGTAGTCGGAGCCGTAGAG	0.637000													6	9					0	0	1	0	0
PIK3CB	5291	broad.mit.edu	37	3	138384011	138384011	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:138384011G>A	ENST00000477593.1	-	19	2612	c.2539C>T	c.(2539-2541)Cgc>Tgc	p.R847C	PIK3CB_ENST00000289153.2_Missense_Mutation_p.R847C|PIK3CB_ENST00000544716.1_Missense_Mutation_p.R298C			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	847	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R847G(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AGGCCAGAGCGATCTCCTGTT	0.418000													45	29					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15795970	15795970	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:15795970G>A	ENST00000550308.1	+	9	1458	c.1078G>A	c.(1078-1080)Gag>Aag	p.E360K	CYP4F12_ENST00000324632.9_Missense_Mutation_p.E360K	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GGAGGTGCAAGAGCTTCTGAA	0.572000													3	59					0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96702071	96702071	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:96702071C>T	ENST00000260682.6	+	3	466	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	152					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	AGCCCGCTGCCTTGTGGAGGA	0.498000													30	32					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94697158	94697158	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:94697158G>A	ENST00000260526.6	-	2	192	c.10C>T	c.(10-12)Cac>Tac	p.H4Y	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.H4Y	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	4					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTCTGTTTGTGAGCAATCATC	0.383000													17	58					0	0	1	0	0
MX2	4600	broad.mit.edu	37	21	42771212	42771212	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr21:42771212C>T	ENST00000330714.3	+	10	1546	c.1362C>T	c.(1360-1362)atC>atT	p.I454I	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	454					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				ACAACAAAATCAGAGAGGATT	0.393000													26	68					0	0	1	0	0
DDX3X	1654	broad.mit.edu	37	X	41203369	41203369	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:41203369G>A	ENST00000542215.1	+	8	900	c.898G>A	c.(898-900)Gga>Aga	p.G300R	DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000399959.2_Silent_p.E284E|DDX3X_ENST00000457138.2_Silent_p.E268E|DDX3X_ENST00000441189.2_Intron			O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	415	Helicase ATP-binding.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						AGATCTACGAGGAAGCCAGAA	0.363000										HNSCC(61;0.18)			11	0					0	0	1	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45241180	45241180	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:45241180C>T	ENST00000352766.7	+	13	1258	c.1258C>T	c.(1258-1260)Ccc>Tcc	p.P420S	ARHGAP8_ENST00000336963.4_Missense_Mutation_p.P210S|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.P332S|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.P341S|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.P420S|ARHGAP8_ENST00000389774.2_Missense_Mutation_p.P241S|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.P210S																breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						CGAACTCATCCCCCCTGTGCT	0.532000													62	63					0	0	1	0	0
OR6B1	135946	broad.mit.edu	37	7	143701590	143701590	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:143701590C>T	ENST00000408922.2	+	1	569	c.501C>T	c.(499-501)agC>agT	p.S167S		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CCTGCCTCAGCTTCTGTGGTC	0.502000													22	28					0	0	1	0	0
C12orf60	144608	broad.mit.edu	37	12	14976084	14976084	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:14976084C>G	ENST00000330828.2	+	2	419	c.215C>G	c.(214-216)tCt>tGt	p.S72C	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	72										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						GAGATGCAATCTGTAGTGGAT	0.368000													3	88					0	0	1	0	0
UBE2J2	118424	broad.mit.edu	37	1	1192648	1192648	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:1192648G>A	ENST00000347370.2	-	4	532	c.59C>T	c.(58-60)cCt>cTt	p.P20L	UBE2J2_ENST00000348298.7_Missense_Mutation_p.P20L|UBE2J2_ENST00000349431.6_Missense_Mutation_p.P72L|UBE2J2_ENST00000491779.1_5'UTR|UBE2J2_ENST00000339385.6_Missense_Mutation_p.P37L|UBE2J2_ENST00000360466.2_Missense_Mutation_p.P72L|UBE2J2_ENST00000400929.2_Missense_Mutation_p.P20L|UBE2J2_ENST00000400930.4_Missense_Mutation_p.P88L	NM_194458.1	NP_919440.1	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	72					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		AGGTTTGAAAGGAAATTCTCT	0.512000													13	60					0	0	1	0	0
OR6A2	8590	broad.mit.edu	37	11	6816306	6816306	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:6816306G>A	ENST00000332601.3	-	1	822	c.634C>T	c.(634-636)Ctt>Ttt	p.L212F		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGCCCTAGAAGAATAAAAATG	0.488000													27	37					0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74042462	74042462	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:74042462A>C	ENST00000409561.1	+	3	1233	c.1112A>C	c.(1111-1113)aAg>aCg	p.K371T		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	371										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						AACCTTTCAAAGCCTCTAGAT	0.443000													27	7					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111746297	111746297	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:111746297C>T	ENST00000261726.6	+	14	1379	c.1225C>T	c.(1225-1227)Ctt>Ttt	p.L409F		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	409						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCAGAAATTCCTTCTGGAGAA	0.617000													5	6					0	0	1	0	0
COG3	83548	broad.mit.edu	37	13	46092966	46092966	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:46092966T>C	ENST00000349995.5	+	18	2112	c.2000T>C	c.(1999-2001)tTg>tCg	p.L667S		NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	667					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		AACAATGCCTTGATAGAGTTC	0.393000													53	25					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117962701	117962701	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:117962701G>A	ENST00000425217.1	-	14	2142	c.2088C>T	c.(2086-2088)ttC>ttT	p.F696F	KSR2_ENST00000302438.5_Silent_p.F422F|KSR2_ENST00000339824.5_Silent_p.F725F|KSR2_ENST00000545002.1_5'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	725	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGCACCCATGAAAAGCACCA	0.577000													22	24					0	0	1	0	0
TMEM201	199953	broad.mit.edu	37	1	9661186	9661186	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:9661186C>T	ENST00000340305.5	+	5	639	c.630C>T	c.(628-630)tcC>tcT	p.S210S	TMEM201_ENST00000340381.6_Silent_p.S210S|TMEM201_ENST00000377376.4_Silent_p.S210S	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN	transmembrane protein 201	210						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		CCGTGAAGTCCCCGGTCCAGG	0.657000													76	83					0	0	1	0	0
IL6ST	3572	broad.mit.edu	37	5	55253047	55253047	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:55253047A>C	ENST00000381298.2	-	9	1358	c.1046T>G	c.(1045-1047)cTc>cGc	p.L349R	IL6ST_ENST00000381294.3_Missense_Mutation_p.L349R|IL6ST_ENST00000502326.3_Missense_Mutation_p.L349R|IL6ST_ENST00000536319.1_Intron|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.L349R|IL6ST_ENST00000522633.2_Intron|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381287.4_Intron	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	349	Fibronectin type-III 3.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				CTTCCACACGAGTTGTACAGT	0.348000			O		hepatocellular ca								45	11					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76437281	76437281	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:76437281C>T	ENST00000389840.5	-	72	11611	c.11486_splice	c.e72-1	p.K3829_splice	DNAH17_ENST00000586052.1_Intron|DNAH17_ENST00000585328.1_Splice_Site_p.K3838_splice					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCACGAAGTTCCTAGGGGTGG	0.612000													20	19					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121720613	121720613	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:121720613C>T	ENST00000273691.3	-	4	583	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	ILDR1_ENST00000462014.1_Missense_Mutation_p.E172K|ILDR1_ENST00000393631.1_Intron|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Missense_Mutation_p.E160K	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	160	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		AGCTTTACTTCCTTATCGGGG	0.458000													58	84					0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52759346	52759346	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:52759346C>T	ENST00000287727.3	+	11	3419	c.3247C>T	c.(3247-3249)Cga>Tga	p.R1083*	ZFYVE9_ENST00000357206.2_Nonsense_Mutation_p.R1024*|ZFYVE9_ENST00000371591.1_Nonsense_Mutation_p.R1083*	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1083					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						AGCTGAATATCGACGTAAGTA	0.388000													27	25					0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50546388	50546388	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:50546388C>T	ENST00000267845.3	-	6	1061	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	HDC_ENST00000543581.1_Missense_Mutation_p.R220Q	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	220					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	AGCTTCCCCTCGGAGTGAGAA	0.488000													29	9					0	0	1	0	0
MS4A10	341116	broad.mit.edu	37	11	60567351	60567351	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:60567351G>A	ENST00000308287.1	+	8	869	c.773G>A	c.(772-774)gGa>gAa	p.G258E		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	258						integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						gtcactgacggagctgcgatc	0.507000													5	19					0	0	1	0	0
ITGBL1	9358	broad.mit.edu	37	13	102344973	102344973	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr13:102344973G>A	ENST00000376180.3	+	8	1273	c.1054G>A	c.(1054-1056)Gga>Aga	p.G352R	ITGBL1_ENST00000545560.2_Missense_Mutation_p.G211R|ITGBL1_ENST00000376162.3_Missense_Mutation_p.G259R	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	352	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTATCCTCCAGGAGATCGCCG	0.483000													24	39					0	0	1	0	0
ENOPH1	58478	broad.mit.edu	37	4	83375960	83375960	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:83375960G>A	ENST00000273920.3	+	4	743	c.475G>A	c.(475-477)Gca>Aca	p.A159T	ENOPH1_ENST00000509635.1_Missense_Mutation_p.A71T	NM_021204.3	NP_067027.1	Q9UHY7	ENOPH_HUMAN	enolase-phosphatase 1	159					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						GAGTGTGGAGGCACAGAAACT	0.443000													128	80					0	0	1	0	0
MTHFD1	4522	broad.mit.edu	37	14	64882158	64882158	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:64882158C>T	ENST00000555709.1	+	5	710	c.323C>T	c.(322-324)tCc>tTc	p.S108F	MTHFD1_ENST00000555252.1_Missense_Mutation_p.S88F|MTHFD1_ENST00000216605.7_Missense_Mutation_p.S164F|MTHFD1_ENST00000545908.1_Missense_Mutation_p.S164F	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	108	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TCAGAGAATTCCATTAACACT	0.388000													143	15					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23792410	23792410	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:23792410G>A	ENST00000354639.3	+	9	1487	c.1023G>A	c.(1021-1023)atG>atA	p.M341I	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.M364I|STK31_ENST00000428484.1_Missense_Mutation_p.M341I|STK31_ENST00000433467.2_Missense_Mutation_p.M364I	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	364							ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.M364I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATACCAGAATGAAAAATCTGG	0.338000													14	44					0	0	1	0	0
TYROBP	7305	broad.mit.edu	37	19	36398661	36398661	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:36398661A>C	ENST00000585901.2	-	2	83	c.65T>G	c.(64-66)cTc>cGc	p.L22R	TYROBP_ENST00000589517.1_Missense_Mutation_p.L22R|TYROBP_ENST00000424586.3_Intron|TYROBP_ENST00000544690.2_Intron|TYROBP_ENST00000262629.4_Missense_Mutation_p.L22R			O43914	TYOBP_HUMAN	TYRO protein tyrosine kinase binding protein	22					axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response	integral to plasma membrane|intracellular	identical protein binding|receptor signaling protein activity			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8	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)			GACAGGACGGAGACCTGAGGA	0.597000													19	16					0	0	1	0	0
RAD9A	5883	broad.mit.edu	37	11	67164707	67164707	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:67164707G>A	ENST00000307980.2	+	10	1023	c.930G>A	c.(928-930)atG>atA	p.M310I	RAD9A_ENST00000535644.1_3'UTR	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	310	Sufficient for interaction with ABL1.				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TGATCGCCATGGAAACCACTA	0.612000								Other conserved DNA damage response genes					23	73					0	0	1	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375669	93375669	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:93375669G>A	ENST00000375765.3	-	2	829	c.441C>T	c.(439-441)ttC>ttT	p.F147F		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	147					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						AGGTCTCCATGAAGGCACACT	0.602000													9	50					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100123389	100123389	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:100123389G>A	ENST00000395996.1	+	6	755	c.644G>A	c.(643-645)cGg>cAg	p.R215Q	VPS13B_ENST00000441350.2_Missense_Mutation_p.R215Q|VPS13B_ENST00000357162.2_Missense_Mutation_p.R215Q|VPS13B_ENST00000358544.2_Missense_Mutation_p.R215Q|VPS13B_ENST00000355155.1_Missense_Mutation_p.R215Q			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	215					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)			CTTGATAAACGGAATGCCAGT	0.303000													12	52					0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53762535	53762535	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:53762535C>T	ENST00000341702.3	+	1	991	c.907C>T	c.(907-909)Ctc>Ttc	p.L303F	VN1R2_ENST00000598458.1_3'UTR	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	303					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TAGGAACAATCTCTACCCCAA	0.493000													57	77					0	0	1	0	0
FOXO3	2309	broad.mit.edu	37	6	108985241	108985241	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:108985241C>T	ENST00000406360.1	+	2	1548	c.1205C>T	c.(1204-1206)tCg>tTg	p.S402L	FOXO3_ENST00000540898.1_Missense_Mutation_p.S182L|FOXO3_ENST00000343882.6_Missense_Mutation_p.S402L	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN	forkhead box O3	402					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 factor binding			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		TCCCAGCCATCGCCCACTGGG	0.582000													63	9					0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4674278	4674278	+	Silent	SNP	C	C	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:4674278C>G	ENST00000396952.5	+	2	1172	c.522C>G	c.(520-522)tcC>tcG	p.S174S	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTGCCGCTCCAATATCCTTT	0.537000													99	82					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790479	133790479	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:133790479G>A	ENST00000321016.8	-	18	3371	c.3141C>T	c.(3139-3141)ttC>ttT	p.F1047F	IGSF9B_ENST00000533871.2_Silent_p.F1047F			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1047	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCAGCCCCCCGAAGGGGAATT	0.657000													42	5					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7647994	7647994	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:7647994C>T	ENST00000359156.4	-	6	1305	c.1103G>A	c.(1102-1104)gGa>gAa	p.G368E	CD163_ENST00000541972.1_Missense_Mutation_p.G356E|CD163_ENST00000396620.3_Missense_Mutation_p.G368E|CD163_ENST00000432237.2_Missense_Mutation_p.G368E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	368					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CAGATCTGATCCATCTGCAAA	0.438000													17	23					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37505199	37505199	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:37505199G>A	ENST00000374660.1	+	38	3248	c.3149G>A	c.(3148-3150)gGa>gAa	p.G1050E	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.G931E|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.G931E			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1053						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.G931A(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CAACGTACAGGAAAAATGGAA	0.333000													5	6					0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109940943	109940943	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:109940943C>T	ENST00000342494.3	+	14	1993	c.1398C>T	c.(1396-1398)ctC>ctT	p.L466L	UBE3B_ENST00000280774.5_Silent_p.L466L|UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000434735.2_Silent_p.L466L	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	466					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TCTGTGTCCTCTACCAGACCT	0.522000													29	51					0	0	1	0	0
CACNG8	59283	broad.mit.edu	37	19	54485595	54485595	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:54485595C>T	ENST00000270458.2	+	4	873	c.770C>T	c.(769-771)cCc>cTc	p.P257L	MIR935_ENST00000401179.1_RNA	NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	257	Gly-rich.				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|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GGGAGCGGCCCCTCGGCCATC	0.736000													3	1					0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42143224	42143224	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:42143224G>A	ENST00000444063.1	+	1	172	c.40G>A	c.(40-42)Ggt>Agt	p.G14S	L3MBTL1_ENST00000373135.3_Missense_Mutation_p.G14S|L3MBTL1_ENST00000418998.1_Intron|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.G14S|L3MBTL1_ENST00000427442.2_Intron|L3MBTL1_ENST00000457824.1_3'UTR			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	14					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CTCCGAGATGGGTCAAGGACC	0.637000													13	10					0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100087112	100087112	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:100087112C>T	ENST00000423930.1	+	4	1927	c.1768C>T	c.(1768-1770)Ctg>Ttg	p.L590L	NYAP1_ENST00000300179.2_Silent_p.L590L|NYAP1_ENST00000454988.1_Silent_p.L533L			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	590																	CAAGATCCAGCTGCAGGAGCA	0.632000													56	30					0	0	1	0	0
AIM2	9447	broad.mit.edu	37	1	159033320	159033320	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:159033320C>T	ENST00000368130.4	-	5	1249	c.961G>A	c.(961-963)Gga>Aga	p.G321R		NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	321	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					AGTTTTTCTCCATTTTTTGAC	0.413000													13	138					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													4	70					0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6190872	6190872	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:6190872G>A	ENST00000530810.1	-	1	766	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGGGCAAACGAAACACTGCT	0.478000													7	16					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87588279	87588279	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:87588279T>C	ENST00000320005.5	-	18	2230	c.2183A>G	c.(2182-2184)aAa>aGa	p.K728R		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	728					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ttcattttctttttgtttatc	0.338000													9	12					0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44938250	44938250	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:44938250C>T	ENST00000296125.4	+	6	667	c.599C>T	c.(598-600)tCc>tTc	p.S200F		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	200					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	ACTGAGAGCTCCCTCAAGCCC	0.512000													95	9					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27004735	27004735	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:27004735C>T	ENST00000314616.6	+	8	1183	c.900C>T	c.(898-900)ctC>ctT	p.L300L	SUPT6H_ENST00000347486.4_Silent_p.L300L	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	300					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CACTCCAGCTCCGCTCCATCC	0.463000													67	98					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30357224	30357224	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr21:30357224C>T	ENST00000361371.4	-	4	515	c.365G>A	c.(364-366)cGa>cAa	p.R122Q	LTN1_ENST00000389195.2_Missense_Mutation_p.R168Q|LTN1_ENST00000389194.2_Missense_Mutation_p.R168Q	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	122							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TGTGGCTTCTCGGACGCGACG	0.358000													17	18					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35729256	35729256	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:35729256G>A	ENST00000187397.4	+	6	743	c.287G>A	c.(286-288)aGt>aAt	p.S96N	ARPP21_ENST00000337271.5_Missense_Mutation_p.S96N|ARPP21_ENST00000417925.1_Missense_Mutation_p.S96N|ARPP21_ENST00000458225.1_Missense_Mutation_p.S96N|ARPP21_ENST00000444190.1_Missense_Mutation_p.S96N	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	96						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CAGCTTTCCAGTTTTTCCAGC	0.363000													3	0					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14798250	14798250	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:14798250C>T	ENST00000261170.3	-	16	1847		c.e16-1			NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)						intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TTAAAACTTCCTGAATAGGAA	0.333000													22	21					0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10613143	10613143	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:10613143C>T	ENST00000547195.1	-	17	2419	c.1919G>A	c.(1918-1920)gGg>gAg	p.G640E	MRVI1_ENST00000423302.2_Missense_Mutation_p.G731E|MRVI1_ENST00000545852.1_Missense_Mutation_p.G416E|MRVI1_ENST00000534266.2_Missense_Mutation_p.G416E|MRVI1_ENST00000436272.1_Missense_Mutation_p.G704E|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000552103.1_Missense_Mutation_p.G640E|MRVI1_ENST00000421747.1_Missense_Mutation_p.G722E|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000424001.1_Missense_Mutation_p.G416E|MRVI1_ENST00000527509.2_Missense_Mutation_p.G640E|MRVI1_ENST00000531107.1_Missense_Mutation_p.G723E|MRVI1_ENST00000541483.1_Missense_Mutation_p.G525E|MRVI1_ENST00000558540.1_Missense_Mutation_p.G416E|LYVE1_ENST00000531706.1_Intron	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	704					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GCTGCCTTTCCCATTGGGTGA	0.473000													2	2					0	0	1	0	0
TMEM161A	54929	broad.mit.edu	37	19	19243163	19243163	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:19243163G>A	ENST00000162044.9	-	5	505	c.441C>T	c.(439-441)tcC>tcT	p.S147S	TMEM161A_ENST00000450333.2_Intron|TMEM161A_ENST00000587583.2_Silent_p.S122S|TMEM161A_ENST00000592369.1_5'UTR	NM_017814.2	NP_060284.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	147					cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			AAGGATACATGGAGAAGGTCA	0.582000													52	62					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103048371	103048371	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:103048371G>A	ENST00000375735.2	+	38	6105	c.5961G>A	c.(5959-5961)acG>acA	p.T1987T	DYNC2H1_ENST00000398093.3_Silent_p.T1987T|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1987	AAA 2 (By similarity).		T -> A (in SRPS3).		cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GAAAATCAACGCTTTGGAGAA	0.393000													3	9					0	0	1	0	0
SFRP1	6422	broad.mit.edu	37	8	41122769	41122769	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:41122769C>T	ENST00000220772.3	-	3	1199	c.862G>A	c.(862-864)Gac>Aac	p.D288N	SFRP1_ENST00000379845.3_Missense_Mutation_p.D152N	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	288	NTR.				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			TTTTTCTTGTCCCACTTGTGG	0.517000													17	69					0	0	1	0	0
SLC18A1	6570	broad.mit.edu	37	8	20022406	20022406	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:20022406G>A	ENST00000440926.1	-	11	1459	c.989C>T	c.(988-990)aCc>aTc	p.T330I	SLC18A1_ENST00000381608.4_Missense_Mutation_p.T330I|SLC18A1_ENST00000265808.7_Intron|SLC18A1_ENST00000519026.1_Intron|SLC18A1_ENST00000276373.5_Missense_Mutation_p.T330I|SLC18A1_ENST00000437980.1_Missense_Mutation_p.T330I	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	330					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		GGAGCACATGGTCTGCATCAT	0.617000													49	62					0	0	1	0	0
IGLV4-3	28786	broad.mit.edu	37	22	23214022	23214022	+	RNA	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:23214022G>A	ENST00000390318.2	+	0	211																											CAGAGACCAGGGAGGTCCCCC	0.572000													101	169					0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43833312	43833312	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr21:43833312G>A	ENST00000319294.6	+	4	565	c.534G>A	c.(532-534)acG>acA	p.T178T	UBASH3A_ENST00000398367.1_Silent_p.T178T|UBASH3A_ENST00000291535.6_Silent_p.T178T	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	178						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CCTTCGCCACGGAAGCATCTC	0.622000													24	75					0	0	1	0	0
MIER2	54531	broad.mit.edu	37	19	327884	327884	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:327884G>A	ENST00000264819.4	-	4	359	c.349C>T	c.(349-351)Cca>Tca	p.P117S	MIER2_ENST00000592722.1_5'UTR	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCATGTCTGGGAGGTTCGGG	0.617000													18	31					0	0	1	0	0
SNCG	6623	broad.mit.edu	37	10	88718536	88718536	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:88718536G>A	ENST00000372017.3	+	1	124	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	SNCG_ENST00000348795.4_Missense_Mutation_p.E28K	NM_003087.2	NP_003078.2	O76070	SYUG_HUMAN	synuclein, gamma (breast cancer-specific protein 1)	28	4 X 11 AA tandem repeats of [EGSA]-K-T-K- [EQ]-[GQ]-V-X(4).					microtubule organizing center|perinuclear region of cytoplasm|spindle	protein binding			endometrium(1)|skin(1)	2						GGGGGTGACGGAAGCAGCTGA	0.592000													35	34					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1265445	1265445	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:1265445G>A	ENST00000447027.1	+	31	7402	c.7344G>A	c.(7342-7344)acG>acA	p.T2448T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T2445T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2445	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	p.T2448T(1)		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)		CAGCCACTACGACTGAGTCCA	0.672000													71	124					0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22749597	22749597	+	RNA	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:22749597G>A	ENST00000508166.1	+	0	1067				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000503442.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AACAAGAAAGGAGAACTAGGT	0.383000													4	9					0	0	1	0	0
RSPO4	343637	broad.mit.edu	37	20	947858	947858	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:947858G>A	ENST00000217260.4	-	3	464	c.368C>T	c.(367-369)cCg>cTg	p.P123L	RSPO4_ENST00000400634.2_Missense_Mutation_p.P123L	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	123					Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						AGTGCCCGGCGGGCAGGTGGG	0.647000													62	79					0	0	1	0	0
PRKRIR	5612	broad.mit.edu	37	11	76072103	76072103	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:76072103G>A	ENST00000260045.3	-	3	320	c.215C>T	c.(214-216)cCt>cTt	p.P72L	PRKRIR_ENST00000531878.1_5'UTR	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	72					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TGTCCTATAAGGACTCTGAAA	0.308000													16	33					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7661952	7661952	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:7661952C>T	ENST00000572933.1	+	14	3651	c.2191C>T	c.(2191-2193)Cgt>Tgt	p.R731C	DNAH2_ENST00000389173.2_Missense_Mutation_p.R731C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	731	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CACGGAGTGCCGTATACATGC	0.527000													31	7					0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123324046	123324046	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:123324046C>T	ENST00000358487.5	-	4	696	c.424G>A	c.(424-426)Gat>Aat	p.D142N	FGFR2_ENST00000359354.2_Missense_Mutation_p.D142N|FGFR2_ENST00000346997.2_Missense_Mutation_p.D142N|FGFR2_ENST00000351936.6_Missense_Mutation_p.D142N|FGFR2_ENST00000369061.4_Missense_Mutation_p.D142N|FGFR2_ENST00000369056.1_Missense_Mutation_p.D142N|FGFR2_ENST00000457416.2_Missense_Mutation_p.D142N|FGFR2_ENST00000360144.3_Missense_Mutation_p.D53N|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000369060.4_Missense_Mutation_p.D142N|FGFR2_ENST00000357555.5_Missense_Mutation_p.D53N|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369059.1_Intron	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	142					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CTGACAAAATCTTCCGCACCA	0.478000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				49	82					0	0	1	0	0
FLYWCH2	114984	broad.mit.edu	37	16	2946570	2946570	+	Silent	SNP	C	C	T	rs151309938		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:2946570C>T	ENST00000396958.3	+	3	500	c.120C>T	c.(118-120)tcC>tcT	p.S40S	FLYWCH2_ENST00000293981.6_Silent_p.S40S|FLYWCH2_ENST00000572006.1_Silent_p.S40S	NM_001142500.1|NM_138439.2	NP_001135972.1|NP_612448.1	Q96CP2	FWCH2_HUMAN	FLYWCH family member 2	40										central_nervous_system(1)|lung(3)|ovary(1)|skin(1)	6						GAAAGTTCTCCAAACTGGTCC	0.652000													50	138					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47746434	47746434	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:47746434C>T	ENST00000273857.4	-	5	783	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	CORIN_ENST00000502252.1_Missense_Mutation_p.E195K|CORIN_ENST00000504584.1_Missense_Mutation_p.E262K|CORIN_ENST00000505909.1_Missense_Mutation_p.E262K|CORIN_ENST00000508498.1_Missense_Mutation_p.E123K	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	262					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TTTCCGTTTTCCTGCTGAGGT	0.378000													27	84					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121647371	121647371	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:121647371C>T	ENST00000489711.1	+	15	1698	c.1310C>T	c.(1309-1311)tCt>tTt	p.S437F	SLC15A2_ENST00000465060.1_3'UTR|SLC15A2_ENST00000295605.2_Missense_Mutation_p.S406F	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	437					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GAAAACAATTCTCTGTTGATA	0.428000													36	160					0	0	1	0	0
SLC26A1	10861	broad.mit.edu	37	4	985081	985081	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:985081C>T	ENST00000361661.2	-	3	788	c.411G>A	c.(409-411)gtG>gtA	p.V137V	SLC26A1_ENST00000398520.2_Silent_p.V137V|SLC26A1_ENST00000398516.2_Silent_p.V137V|IDUA_ENST00000453894.1_Intron|IDUA_ENST00000247933.4_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	137						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCTCCCGGTCCACCACCTGCC	0.647000													57	37					0	0	1	0	0
ACOT12	134526	broad.mit.edu	37	5	80626239	80626239	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:80626239C>A	ENST00000307624.3	-	15	1670	c.1642G>T	c.(1642-1644)Gat>Tat	p.D548Y	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	548	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		AACCCATCATCAGGAGGATTC	0.398000													57	4					1.77355e-41	1.82772e-41	1	1	0
DNER	92737	broad.mit.edu	37	2	230231825	230231825	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:230231825C>T	ENST00000341772.4	-	12	2000	c.1866G>A	c.(1864-1866)tgG>tgA	p.W622*		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	622					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)		GCCCGGACTTCCATTGGAGGT	0.483000													30	10					0	0	1	0	0
ACMSD	130013	broad.mit.edu	37	2	135630212	135630212	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:135630212G>A	ENST00000356140.5	+	8	985		c.e8+1		ACMSD_ENST00000283054.4_Splice_Site|ACMSD_ENST00000392928.1_Splice_Site|AC016725.4_ENST00000537615.1_RNA|AC016725.4_ENST00000392929.2_RNA|AC016725.4_ENST00000413962.1_RNA|AC016725.4_ENST00000428857.1_RNA	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase						quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		CATAGGAAAGGTAAGCCCAGT	0.478000													33	10					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21526164	21526164	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr18:21526164C>T	ENST00000313654.9	+	70	9508	c.9267C>T	c.(9265-9267)gcC>gcT	p.A3089A	LAMA3_ENST00000399516.3_Silent_p.A3033A|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.A1424A|LAMA3_ENST00000269217.6_Silent_p.A1480A	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3089	Laminin G-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACTGAGGGCCCGGGAGGGAA	0.493000													32	42					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10209938	10209938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:10209938C>T	ENST00000418404.3	-	36	5467	c.5304G>A	c.(5302-5304)atG>atA	p.M1768I	MYH13_ENST00000570743.1_Missense_Mutation_p.M1768I|MYH13_ENST00000252172.4_Missense_Mutation_p.M1768I			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1768					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCTCAGCCATCATGGCAGCCT	0.582000													43	3					0	0	1	0	0
CCL22	6367	broad.mit.edu	37	16	57397450	57397450	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:57397450G>A	ENST00000219235.4	+	3	277	c.232G>A	c.(232-234)Gat>Aat	p.D78N		NM_002990.4	NP_002981.2	O00626	CCL22_HUMAN	chemokine (C-C motif) ligand 22	78					cell-cell signaling|chemotaxis|immune response|inflammatory response|response to virus|signal transduction	extracellular space	chemokine activity			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						GATCTGTGCCGATCCCAGAGT	0.542000													13	45					0	0	1	0	0
DAGLB	221955	broad.mit.edu	37	7	6476070	6476070	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:6476070C>T	ENST00000297056.6	-	3	511	c.342G>A	c.(340-342)ctG>ctA	p.L114L	DAGLB_ENST00000428902.2_Intron|DAGLB_ENST00000436575.1_Silent_p.L73L|DAGLB_ENST00000425398.2_Silent_p.L114L|DAGLB_ENST00000479922.2_5'UTR|DAGLB_ENST00000421761.2_Intron	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	114					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		AGGCAGCCCCCAGAGAGGCCC	0.537000													80	73					0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15053176	15053176	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:15053176G>A	ENST00000248072.3	+	1	876	c.876G>A	c.(874-876)agG>agA	p.R292R		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					ACAGCCTGAGGAACAAGGACA	0.527000													38	63					0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6081970	6081970	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:6081970C>T	ENST00000409021.3	-	7	1620	c.1171G>A	c.(1171-1173)Gat>Aat	p.D391N	JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.D391N|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.D226N|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.D226N|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.D391N	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	391	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCTGCTCATCCCTCGTCAGG	0.592000													8	33					0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44815477	44815477	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:44815477G>A	ENST00000372262.3	-	8	1933	c.1533C>T	c.(1531-1533)gcC>gcT	p.A511A	CDH22_ENST00000537909.1_Silent_p.A511A	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	511	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GGCCTGGCTTGGCATCCTCGC	0.617000													128	114					0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20692709	20692709	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:20692709A>G	ENST00000315519.2	+	1	919	c.841A>G	c.(841-843)Aca>Gca	p.T281A		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TGTGAGCCCAACATCAGGGAA	0.453000													54	2					0	0	1	0	0
DIO1	1733	broad.mit.edu	37	1	54360058	54360058	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:54360058G>A	ENST00000361921.3	+	1	199	c.175G>A	c.(175-177)Gac>Aac	p.D59N	DIO1_ENST00000524406.1_Intron|DIO1_ENST00000388876.3_Missense_Mutation_p.D59N|DIO1_ENST00000322679.6_Missense_Mutation_p.D59N|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000532493.1_Missense_Mutation_p.D59N|DIO1_ENST00000525202.1_Intron	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	59					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						TTTCAGCCACGACAACTGGAT	0.532000													103	115					0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45281316	45281316	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:45281316C>T	ENST00000270279.3	+	1	191	c.128C>T	c.(127-129)tCg>tTg	p.S43L	CBLC_ENST00000341505.4_Missense_Mutation_p.S43L	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	43	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				AGTCCCCCTTCGCTGCGGGAC	0.741000			M		AML								21	39					0	0	1	0	0
NEURL4	84461	broad.mit.edu	37	17	7230914	7230914	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:7230914G>A	ENST00000399464.2	-	2	587	c.572C>T	c.(571-573)gCc>gTc	p.A191V	NEURL4_ENST00000315614.7_Missense_Mutation_p.A191V|NEURL4_ENST00000570460.1_Missense_Mutation_p.A191V	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTCCACGACGGCCCAGACACG	0.677000													28	3					0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5021092	5021092	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:5021092T>A	ENST00000321543.1	+	1	880	c.880T>A	c.(880-882)Tat>Aat	p.Y294N		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCTATTGTCTATAGTGTCAG	0.453000													13	35					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96949076	96949076	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:96949076G>A	ENST00000323853.5	-	34	4855	c.4778C>T	c.(4777-4779)aCc>aTc	p.T1593I	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1593	Helicase C-terminal 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						ATCCTTCTCGGTGCAGTGCAA	0.567000													48	13					0	0	1	0	0
TRIM15	89870	broad.mit.edu	37	6	30136262	30136262	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:30136262G>A	ENST00000376694.4	+	3	1132	c.663G>A	c.(661-663)aaG>aaA	p.K221K	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	221					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CCCAGGTCAAGGAGCTGGAGG	0.547000													10	16					0	0	1	0	0
GRK6	2870	broad.mit.edu	37	5	176863138	176863138	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:176863138C>T	ENST00000355472.5	+	12	1290	c.1122C>T	c.(1120-1122)ctC>ctT	p.L374L	GRK6_ENST00000355958.5_Silent_p.L374L|GRK6_ENST00000393576.3_Silent_p.L340L|GRK6_ENST00000528793.1_Silent_p.L374L|GRK6_ENST00000507633.1_Silent_p.L374L	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	374	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			TCGGCTGCCTCCTGTACGAGA	0.637000													41	3					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43815682	43815682	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:43815682G>A	ENST00000382031.1	+	5	2756	c.2725G>A	c.(2725-2727)Gaa>Aaa	p.E909K	MAP1A_ENST00000399453.1_Missense_Mutation_p.E671K|MAP1A_ENST00000300231.5_Missense_Mutation_p.E671K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	671						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGATGAGGAGGAAGAGGACGC	0.478000													16	5					0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1484890	1484890	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:1484890G>A	ENST00000297508.7	-	6	991	c.816C>T	c.(814-816)tcC>tcT	p.S272S	MICALL2_ENST00000405088.4_Silent_p.S60S	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	272						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CCTTCTGTGGGGAACAGGAGG	0.682000													14	13					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102505055	102505055	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:102505055C>T	ENST00000360184.4	+	59	11240	c.11076C>T	c.(11074-11076)ctC>ctT	p.L3692L	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3692	AAA 5 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CACCAGATCTCTGTTCCCGGG	0.453000													100	10					0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157768008	157768008	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:157768008C>T	ENST00000358292.3	-	7	991	c.940G>A	c.(940-942)Gag>Aag	p.E314K	FCRL1_ENST00000368176.3_Missense_Mutation_p.E353K|FCRL1_ENST00000491942.1_Missense_Mutation_p.E353K|FCRL1_ENST00000489998.1_5'UTR	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	353						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TAGGTGAACTCTTGGGGTAGA	0.493000													3	48					0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72132046	72132046	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:72132046G>A	ENST00000265381.4	-	2	303	c.81C>T	c.(79-81)gcC>gcT	p.A27A		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	27					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GCTCCAGGTCGGCCTCCACCG	0.687000													3	6					0	0	1	0	0
CXorf58	254158	broad.mit.edu	37	X	23953394	23953394	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:23953394C>T	ENST00000379211.3	+	7	1186	c.637C>T	c.(637-639)Ccc>Tcc	p.P213S		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	213										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						TGAAAATATTCCCAGGACAAT	0.398000													37	7					0	0	1	0	0
TALDO1	6888	broad.mit.edu	37	11	764334	764334	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:764334C>T	ENST00000528097.1	+	7	932	c.878C>T	c.(877-879)tCc>tTc	p.S293F	TALDO1_ENST00000319006.3_Silent_p.F294F	NM_006755.1	NP_006746.1	P37837	TALDO_HUMAN	transaldolase 1	0					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		AGAAGTCTTTCCGTTGGTTGC	0.572000													27	34					0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17548864	17548864	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:17548864G>A	ENST00000005226.7	-	5	401	c.402C>T	c.(400-402)atC>atT	p.I134I	USH1C_ENST00000318024.4_Silent_p.I134I|USH1C_ENST00000527020.1_Silent_p.I134I|USH1C_ENST00000527720.1_Silent_p.I103I	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	134	PDZ 1.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TGATCCGGACGATCTCGTCCC	0.552000													19	54					0	0	1	0	0
SIRPB2	284759	broad.mit.edu	37	20	1460519	1460519	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:1460519G>A	ENST00000359801.3	-	2	313	c.277C>T	c.(277-279)Cct>Tct	p.P93S	SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000537284.1_Intron|SIRPB2_ENST00000381630.1_Intron	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	93	Ig-like V-type 1.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ATTACCCCAGGGAAGGAGCCA	0.468000													41	51					0	0	1	0	0
SOX10	6663	broad.mit.edu	37	22	38370059	38370059	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:38370059T>C	ENST00000396884.2	-	4	1126	c.844A>G	c.(844-846)Agc>Ggc	p.S282G	POLR2F_ENST00000407936.1_Intron|SOX10_ENST00000360880.2_Missense_Mutation_p.S282G|POLR2F_ENST00000405557.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	282						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					ACCTCGTGGCTGATCTCACCA	0.617000													10	335					0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171607827	171607827	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:171607827C>T	ENST00000037502.5	-	2	699	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	214					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)					GACTTCAGTTCCTGGAAGGCC	0.438000													39	51					0	0	1	0	0
OR5H1	26341	broad.mit.edu	37	3	97851967	97851967	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:97851967C>T	ENST00000354565.2	+	1	426	c.426C>T	c.(424-426)atC>atT	p.I142I	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GACTGTGCATCCGGCTATTAA	0.393000													54	105					0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35827096	35827096	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:35827096G>A	ENST00000085219.5	+	4	636	c.570G>A	c.(568-570)tcG>tcA	p.S190S	CD22_ENST00000419549.2_Silent_p.S18S|CD22_ENST00000270311.6_Silent_p.S70S|CD22_ENST00000544992.2_Silent_p.S190S|CD22_ENST00000594250.1_Silent_p.S190S|CD22_ENST00000341773.6_Silent_p.S190S|CD22_ENST00000536635.2_Silent_p.S190S	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	190	Ig-like C2-type 1.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CTGTCACCTCGACCTCCTTGA	0.547000													36	45					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201009192	201009192	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:201009192G>T	ENST00000362061.3	-	44	5615	c.5389C>A	c.(5389-5391)Ctg>Atg	p.L1797M	RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Missense_Mutation_p.L1778M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1797					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAGGTGCCCAGGCCCCCTCGA	0.602000													28	66					3.6622e-26	3.77136e-26	1	1	0
PTGER1	5731	broad.mit.edu	37	19	14583464	14583464	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:14583464T>G	ENST00000292513.3	-	3	1234	c.1117A>C	c.(1117-1119)Aag>Cag	p.K373Q		NM_000955.2	NP_000946.2	P34995	PE2R1_HUMAN	prostaglandin E receptor 1 (subtype EP1), 42kDa	373						integral to plasma membrane	prostaglandin E receptor activity									Alprostadil(DB00770)|Bimatoprost(DB00905)|Bupivacaine(DB00297)|Carboprost Tromethamine(DB00429)	GGGCCGCCCTTGGCTCCGGCC	0.697000													3	4					0	0	1	0	0
TINF2	26277	broad.mit.edu	37	14	24709494	24709494	+	Silent	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:24709494T>C	ENST00000267415.7	-	7	1445	c.1104A>G	c.(1102-1104)ttA>ttG	p.L368L	TINF2_ENST00000538777.1_3'UTR|TINF2_ENST00000399423.4_3'UTR|TINF2_ENST00000540705.1_Silent_p.L333L|TINF2_ENST00000558566.1_3'UTR	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	368					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		TAGGAGGTAATAATGATAGTC	0.498000									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				78	8					0	0	1	0	0
LIN9	286826	broad.mit.edu	37	1	226453309	226453309	+	Silent	SNP	C	C	T	rs144126698		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:226453309C>T	ENST00000328205.5	-	10	1556	c.1011G>A	c.(1009-1011)tcG>tcA	p.S337S	LIN9_ENST00000366801.1_Silent_p.S286S|LIN9_ENST00000481685.1_Silent_p.S302S	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 homolog (C. elegans)	321					cell cycle|DNA replication	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TTCTCCACGGCGACTGTCCTA	0.313000													12	48					0	0	1	0	0
HLA-DQB1	3119	broad.mit.edu	37	6	32629825	32629825	+	Missense_Mutation	SNP	C	C	T	rs76620513		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:32629825C>T	ENST00000399084.1	-	4	758	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.E194K|HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.E194K|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000399082.3_Missense_Mutation_p.E104K|HLA-DQB1_ENST00000399079.3_Missense_Mutation_p.E194K			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	194	Beta-2.|Ig-like C1-type.		E -> D (in dbSNP:rs9273952).		antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGAGTCATTTCCAGCATCACC	0.567000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				69	48					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906455	164906455	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:164906455C>T	ENST00000475390.1	-	2	2607	c.2164G>A	c.(2164-2166)Ggt>Agt	p.G722S	SLITRK3_ENST00000241274.3_Missense_Mutation_p.G722S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	722	Poly-Gly.					integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GGTCGaccaccacccccactt	0.572000										HNSCC(40;0.11)			55	34					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057032	9057032	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:9057032G>A	ENST00000397910.4	-	3	30617	c.30414C>T	c.(30412-30414)tcC>tcT	p.S10138S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10140	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						TTTCAGCCATGGAAGAGGGAG	0.458000													7	6					0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4945015	4945015	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:4945015C>G	ENST00000321961.2	-	1	622	c.555G>C	c.(553-555)gaG>gaC	p.E185D	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTTCATGATCTCCAGGTGAA	0.517000													6	14					0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586350	15586350	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:15586350C>T	ENST00000292609.4	-	2	1260	c.1132_splice	c.e2+1	p.L377_splice	PGLYRP2_ENST00000340880.4_Splice_Site_p.L377_splice			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	377					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CTTCCTCACCCAGGAAGGCCT	0.567000													75	122					0	0	1	0	0
TFAP2B	7021	broad.mit.edu	37	6	50810881	50810881	+	Silent	SNP	C	C	T	rs112599056	byFrequency	TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:50810881C>T	ENST00000263046.4	+	8	1352	c.1186C>T	c.(1186-1188)Ctg>Ttg	p.L396L	TFAP2B_ENST00000393655.3_Silent_p.L387L			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	387				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					CAGCCCCATCCTGGAGCCGGG	0.632000													74	69					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241700163	241700163	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:241700163G>A	ENST00000498729.2	-	25	2609	c.2363C>T	c.(2362-2364)cCc>cTc	p.P788L	KIF1A_ENST00000320389.7_Missense_Mutation_p.P779L	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	779					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GCGGGGGAAGGGCCGCGTCTC	0.652000													22	4					0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143632954	143632954	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:143632954C>T	ENST00000408955.2	+	1	696	c.629C>T	c.(628-630)cCt>cTt	p.P210L		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CTGATGACACCTTTCTGCCTG	0.502000													35	53					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117808727	117808727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:117808727C>T	ENST00000350763.4	-	17	5498	c.5087G>A	c.(5086-5088)gGa>gAa	p.G1696E	TNC_ENST00000341037.4_Missense_Mutation_p.G1514E|TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Missense_Mutation_p.G1241E|TNC_ENST00000423613.2_Intron|TNC_ENST00000346706.3_Missense_Mutation_p.G1150E|TNC_ENST00000345230.3_Intron|TNC_ENST00000542877.1_Missense_Mutation_p.G1333E|TNC_ENST00000340094.3_Missense_Mutation_p.G1332E	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1696	Fibronectin type-III 12.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGATCGCCTTCCTTTGCTTAT	0.458000													64	86					0	0	1	0	0
TBC1D26	353149	broad.mit.edu	37	17	15641669	15641669	+	Silent	SNP	A	A	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:15641669A>C	ENST00000437605.2	+	7	605	c.355A>C	c.(355-357)Aga>Cga	p.R119R	ZNF286A_ENST00000413242.2_3'UTR|TBC1D26_ENST00000579428.1_Silent_p.R119R|AC005324.6_ENST00000434017.1_RNA	NM_178571.4	NP_848666.2	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	119	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		AGATATTGACAGAATCAAGTC	0.502000													47	66					0	0	1	0	0
STRA6	64220	broad.mit.edu	37	15	74481580	74481580	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:74481580G>A	ENST00000323940.5	-	12	1211	c.966C>T	c.(964-966)atC>atT	p.I322I	STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000563965.1_Silent_p.I361I|STRA6_ENST00000395105.4_Silent_p.I322I|STRA6_ENST00000449139.2_Silent_p.I322I|STRA6_ENST00000535552.1_Silent_p.I359I|STRA6_ENST00000423167.2_Silent_p.I313I|STRA6_ENST00000574278.1_Silent_p.I337I|STRA6_ENST00000416286.3_Silent_p.I314I	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	322					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						TCACCTTCTGGATAGTGGGTA	0.622000													9	1					0	0	1	0	0
CTR9	9646	broad.mit.edu	37	11	10785932	10785932	+	Silent	SNP	C	C	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:10785932C>A	ENST00000361367.2	+	11	1788	c.1362C>A	c.(1360-1362)ctC>ctA	p.L454L		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	454					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CAGAGATTCTCAATAATGTGG	0.428000													21	35					7.26314e-15	7.44793e-15	1	1	0
FBXL13	222235	broad.mit.edu	37	7	102453803	102453803	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:102453803C>T	ENST00000393772.2	-	19	2536	c.2110G>A	c.(2110-2112)Gac>Aac	p.D704N	FBXL13_ENST00000313221.4_Missense_Mutation_p.D732N|FBXL13_ENST00000455112.2_Missense_Mutation_p.D687N|FBXL13_ENST00000436908.1_Missense_Mutation_p.D732N|FBXL13_ENST00000379305.3_Missense_Mutation_p.D704N|FBXL13_ENST00000379306.3_Missense_Mutation_p.D450N|FBXL13_ENST00000379308.3_Missense_Mutation_p.D687N|FBXL13_ENST00000456695.1_Missense_Mutation_p.D450N			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	732										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GCTGCTTGGTCTTCACTGCTG	0.398000													18	31					0	0	1	0	0
HMGN1	3150	broad.mit.edu	37	21	40715075	40715075	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr21:40715075G>A	ENST00000380749.5	-	6	548	c.266C>T	c.(265-267)tCt>tTt	p.S89F	HMGN1_ENST00000489072.1_5'UTR|HMGN1_ENST00000361263.4_Silent_p.L53L|HMGN1_ENST00000380747.1_Missense_Mutation_p.S105F|HMGN1_ENST00000380748.1_Missense_Mutation_p.S79F	NM_004965.6	NP_004956.5	P05114	HMGN1_HUMAN	high mobility group nucleosome binding domain 1	89					positive regulation of transcription elongation, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding			breast(2)|lung(1)	3		Prostate(19;8.69e-07)				TGCTTCATCAGAGGCTGGACT	0.368000													22	51					0	0	1	0	0
OSBPL2	9885	broad.mit.edu	37	20	60864340	60864340	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:60864340C>T	ENST00000313733.3	+	12	1405	c.1203C>T	c.(1201-1203)gaC>gaT	p.D401D	OSBPL2_ENST00000358053.2_Silent_p.D389D|OSBPL2_ENST00000439951.2_Intron	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	401					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			CACCCACGGACTGCCGCCTGC	0.597000													16	21					0	0	1	0	0
COQ5	84274	broad.mit.edu	37	12	120941789	120941789	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:120941789C>T	ENST00000288532.6	-	6	906	c.866G>A	c.(865-867)cGa>cAa	p.R289Q	COQ5_ENST00000445328.2_Missense_Mutation_p.R215Q	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	289					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGAAACCTTCGGATACTCTC	0.458000													19	131					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238296530	238296530	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:238296530C>T	ENST00000295550.4	-	4	1459	c.1007G>A	c.(1006-1008)cGg>cAg	p.R336Q	COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000409809.1_Missense_Mutation_p.R130Q|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000353578.4_Missense_Mutation_p.R130Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.R336Q|COL6A3_ENST00000392004.3_Missense_Mutation_p.R130Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	336	Nonhelical region.|VWFA 2.				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)		GCCCCCTGCCCGGGTGAAGTG	0.627000													5	25					0	0	1	0	0
LOC150776	150776	broad.mit.edu	37	2	132276161	132276161	+	RNA	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:132276161C>T	ENST00000438378.2	+	0	1822					NR_026922.1																						CTGGGAGCTTCCTGTCACCCT	0.602000													10	0					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38418314	38418314	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:38418314G>A	ENST00000322350.5	+	12	1987	c.1641G>A	c.(1639-1641)atG>atA	p.M547I	EGFLAM_ENST00000336740.6_Missense_Mutation_p.M313I|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000354891.3_Missense_Mutation_p.M547I	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	547	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GAATTGACATGAGGCCCTGGC	0.562000													30	10					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52252245	52252245	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:52252245G>A	ENST00000356297.4	-	21	4185	c.4085C>T	c.(4084-4086)tCc>tTc	p.S1362F	PXDNL_ENST00000543296.1_Intron	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1362					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)				GAAATCTTGGGAGAACTTTGT	0.373000													37	55					0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033937	52033937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:52033937G>A	ENST00000346477.3	-	3	772	c.704C>T	c.(703-705)tCc>tTc	p.S235F	SIGLEC6_ENST00000343300.4_Missense_Mutation_p.S235F|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.S224F|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.S199F|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.S235F|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.S235F	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	235					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GCACTCACAGGAGACATTGAG	0.632000													51	79					0	0	1	0	0
SESN2	83667	broad.mit.edu	37	1	28595741	28595741	+	Silent	SNP	C	C	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:28595741C>A	ENST00000253063.3	+	2	459	c.138C>A	c.(136-138)gcC>gcA	p.A46A		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	46					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCCAGCGCCTTCATCCCCG	0.557000													18	57					1.96292e-10	2.00155e-10	1	1	0
ANKRD11	29123	broad.mit.edu	37	16	89351844	89351844	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:89351844T>C	ENST00000301030.4	-	9	1566	c.1106A>G	c.(1105-1107)aAg>aGg	p.K369R	ANKRD11_ENST00000378330.2_Missense_Mutation_p.K369R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	369						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCTGTAGTCCTTTTTCAATAG	0.453000													3	152					0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183852941	183852941	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:183852941C>T	ENST00000304685.3	+	7	1198	c.737C>T	c.(736-738)tCc>tTc	p.S246F	RGL1_ENST00000367531.1_Missense_Mutation_p.S246F|RGL1_ENST00000539189.1_Missense_Mutation_p.S211F|RGL1_ENST00000360851.3_Missense_Mutation_p.S211F|RGL1_ENST00000536277.1_Missense_Mutation_p.S209F	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	211	Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						AACACGATCTCCTTCAGCCTG	0.463000													13	52					0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450359	105450359	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:105450359A>C	ENST00000337685.2	+	5	1719	c.934A>C	c.(934-936)Agt>Cgt	p.S312R	MUM1L1_ENST00000372552.1_Missense_Mutation_p.S312R|MUM1L1_ENST00000357175.2_Missense_Mutation_p.S312R	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	312										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATGCCCTGGGAGTTGTTCAAG	0.458000													6	3					0	0	1	0	0
CCR8	1237	broad.mit.edu	37	3	39373934	39373934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:39373934C>T	ENST00000326306.4	+	2	250	c.112C>T	c.(112-114)Ctt>Ttt	p.L38F	CCR8_ENST00000545843.1_Intron|CCR8_ENST00000414803.1_Intron	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	38					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		CAAGTTGCTCCTTGCTGTCTT	0.478000													70	7					0	0	1	0	0
RASSF2	9770	broad.mit.edu	37	20	4771127	4771127	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:4771127G>A	ENST00000379400.3	-	7	702	c.507C>T	c.(505-507)ttC>ttT	p.F169F	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Silent_p.F169F	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	169					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						CGTTGATGGAGAAGCGGTGGC	0.602000													28	53					0	0	1	0	0
ATPAF1	64756	broad.mit.edu	37	1	47108892	47108892	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:47108892T>C	ENST00000576409.1	-	8	897	c.835A>G	c.(835-837)Act>Gct	p.T279A	ATPAF1_ENST00000532925.1_Missense_Mutation_p.T168A|ATPAF1_ENST00000574428.1_Intron|ATPAF1_ENST00000329231.4_Intron|ATPAF1_ENST00000371937.4_Missense_Mutation_p.T256A|ATPAF1_ENST00000542495.1_Missense_Mutation_p.T105A			Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	256					protein complex assembly	mitochondrion	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					ATTTCTGCAGTCATCAGCACT	0.433000													5	40					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185198317	185198317	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:185198317G>A	ENST00000265026.3	+	13	3133	c.2799_splice	c.e13+1	p.E933_splice	MAP3K13_ENST00000443863.1_Splice_Site_p.E789_splice|MAP3K13_ENST00000424227.1_Splice_Site_p.E933_splice|MAP3K13_ENST00000535426.1_Splice_Site_p.E789_splice|MAP3K13_ENST00000446828.1_Splice_Site_p.E726_splice|TMEM41A_ENST00000475480.1_Intron	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	933					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GTGGCTATGAGGTGGGGGCTT	0.507000													38	53					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43762266	43762266	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:43762266G>A	ENST00000244293.7	-	4	1118	c.1052C>T	c.(1051-1053)cCc>cTc	p.P351L	PSG9_ENST00000270077.3_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000596730.1_Missense_Mutation_p.P258L|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000593948.1_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	0	Ig-like C2-type 3.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				ACACAGGCTGGGAATAAAAAT	0.448000													19	26					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974684	21974684	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:21974684G>A	ENST00000304494.5	-	1	413	c.143C>T	c.(142-144)cCg>cTg	p.P48L	CDKN2A_ENST00000579122.1_Missense_Mutation_p.P48L|CDKN2A_ENST00000579755.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.P48L|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.P48L|CDKN2A_ENST00000530628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	48			P -> L (in CMM2 and a head and neck tumor; somatic mutation).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(25)|p.P48L(8)|p.P48R(1)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CACCTGGATCGGCCTCCGACC	0.677000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			104	27					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995477	140995477	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:140995477C>T	ENST00000285879.4	+	4	2573	c.2287C>T	c.(2287-2289)Cct>Tct	p.P763S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	763							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)					CCCTGAGAGTCCTCAGAGTCC	0.542000										HNSCC(15;0.026)			95	13					0	0	1	0	0
NAT2	10	broad.mit.edu	37	8	18257756	18257756	+	Silent	SNP	A	A	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:18257756A>T	ENST00000286479.3	+	2	350	c.243A>T	c.(241-243)acA>acT	p.T81T	NAT2_ENST00000520116.1_Intron	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	81					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		CTCTGACCACAATCGGTTTTC	0.468000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				19	76					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66472843	66472843	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:66472843G>A	ENST00000533211.1	-	15	2235	c.1904C>T	c.(1903-1905)gCc>gTc	p.A635V	SPTBN2_ENST00000309996.2_Missense_Mutation_p.A635V|SPTBN2_ENST00000529997.1_Missense_Mutation_p.A635V			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	635					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						CTCCAGCCGGGCCCGCCGCGC	0.672000													6	40					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235950337	235950337	+	Silent	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:235950337T>C	ENST00000409212.1	+	4	1431	c.924T>C	c.(922-924)ggT>ggC	p.G308G	SH3BP4_ENST00000392011.2_Silent_p.G308G|SH3BP4_ENST00000344528.4_Silent_p.G308G			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	308					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		AAAGCCCTGGTTGGGGCCAGA	0.592000													8	48					0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55110913	55110913	+	Silent	SNP	G	G	A	rs142044895		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:55110913G>A	ENST00000314721.2	+	1	287	c.237G>A	c.(235-237)ttG>ttA	p.L79L		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CACCCAAATTGATGATAGACT	0.448000													25	28					0	0	1	0	0
LTB	4050	broad.mit.edu	37	6	31550142	31550142	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:31550142G>A	ENST00000429299.2	-	1	60	c.53C>T	c.(52-54)tCc>tTc	p.S18F	LTB_ENST00000446745.2_Missense_Mutation_p.S18F|LTB_ENST00000483972.1_Intron	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)	18					cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9					Infliximab(DB00065)|Simvastatin(DB00641)	TAGCAGGAGGGAACCCCTCCC	0.637000													15	33					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140189164	140189164	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:140189164G>T	ENST00000356878.4	+	1	2493	c.2392G>T	c.(2392-2394)Gta>Tta	p.V798L	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_031500.1	NP_113688.1														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)			AAAGGTTAGTGTATAACATCC	0.388000													63	15					5.88917e-42	6.07334e-42	1	1	0
APC2	10297	broad.mit.edu	37	19	1462005	1462005	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:1462005C>T	ENST00000535453.1	+	13	3395	c.1682C>T	c.(1681-1683)tCt>tTt	p.S561F	APC2_ENST00000233607.2_Missense_Mutation_p.S561F|APC2_ENST00000238483.4_Missense_Mutation_p.S287F|CTB-25B13.12_ENST00000588225.1_RNA|C19orf25_ENST00000588427.1_Intron			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	561					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAATCTGTCTGCACACAGC	0.647000													26	39					0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85970858	85970858	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:85970858C>T	ENST00000372117.3	+	13	1525	c.1422C>T	c.(1420-1422)tcC>tcT	p.S474S	CDHR1_ENST00000332904.3_Silent_p.S474S|CDHR1_ENST00000440770.2_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	474	Cadherin 5.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AGTTCGACTCCCTCTACTACG	0.582000													50	66					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2597726	2597726	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:2597726C>T	ENST00000358864.1	+	16	1964	c.1949C>T	c.(1948-1950)tCc>tTc	p.S650F	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	650						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGGATGGGCTCCTTCTATGCT	0.572000													32	51					0	0	1	0	0
CGN	57530	broad.mit.edu	37	1	151491323	151491323	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:151491323G>A	ENST00000271636.7	+	2	461	c.328G>A	c.(328-330)Gga>Aga	p.G110R		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	104	Head.|Interacts with ZO-2.					myosin complex|tight junction	actin binding|motor activity	p.G110R(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCAGGTCAAGGGATTTCCTGC	0.587000													12	7					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9585962	9585962	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:9585962G>A	ENST00000301480.4	-	3	241	c.28C>T	c.(28-30)Cag>Tag	p.Q10*		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CTGCATACCTGATAACAATTT	0.408000													24	21					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596496	24596496	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:24596496C>T	ENST00000535378.1	-	4	1021	c.379G>A	c.(379-381)Gat>Aat	p.D127N	KIAA0319_ENST00000537886.1_Missense_Mutation_p.D136N|KIAA0319_ENST00000543707.1_Missense_Mutation_p.D136N|KIAA0319_ENST00000430948.2_Missense_Mutation_p.D91N|KIAA0319_ENST00000378214.3_Missense_Mutation_p.D136N	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	136					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TTTCTGATATCCTCAGGTGAG	0.567000													29	58					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167149779	167149779	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:167149779G>A	ENST00000375387.4	-	9	1412	c.1072C>T	c.(1072-1074)Cta>Tta	p.L358L	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.L357L|SCN9A_ENST00000409435.1_Silent_p.L357L|SCN9A_ENST00000303354.6_Silent_p.L358L			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	357						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)	TGGGTCATTAGCCTAAACAAG	0.433000													4	1					0	0	1	0	0
BLOC1S3	388552	broad.mit.edu	37	19	45683139	45683139	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:45683139G>A	ENST00000433642.2	+	2	681	c.585G>A	c.(583-585)gaG>gaA	p.E195E	BLOC1S3_ENST00000587722.1_Silent_p.E195E|AC005779.2_ENST00000593083.1_Silent_p.E20E	NM_212550.3	NP_997715.1	Q6QNY0	BL1S3_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 3	195					cellular membrane organization|eye development|melanosome organization|platelet activation|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex	identical protein binding			ovary(1)|skin(1)	2		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CCGAGCCTGAGAAAGACCCGG	0.667000									Hermansky-Pudlak syndrome				24	31					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508414	37508414	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:37508414G>A	ENST00000374660.1	+	40	4062	c.3963G>A	c.(3961-3963)agG>agA	p.R1321R	ANKRD30A_ENST00000602533.1_Silent_p.R1202R|ANKRD30A_ENST00000361713.1_Silent_p.R1202R			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1258						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAGCTCAAAGGAAATCCAAAA	0.368000													3	5					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768115	57768115	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:57768115C>T	ENST00000371030.2	+	1	2041	c.2041C>T	c.(2041-2043)Cat>Tat	p.H681Y		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	681						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GACCCCTGTCCATGAGGACAT	0.617000													11	13					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553703	19553703	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:19553703G>A	ENST00000409832.3	+	1	339	c.287G>A	c.(286-288)aGc>aAc	p.S96N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	96										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						ACACTCAGGAGCAAGATGGGC	0.612000													20	606					0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143632953	143632953	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:143632953C>T	ENST00000408955.2	+	1	695	c.628C>T	c.(628-630)Cct>Tct	p.P210S		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TCTGATGACACCTTTCTGCCT	0.507000													34	53					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102478657	102478657	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:102478657C>T	ENST00000360184.4	+	34	7028	c.6864C>T	c.(6862-6864)atC>atT	p.I2288I		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2288	AAA 2 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCAGGATCATCGACAGCGTGA	0.448000													49	7					0	0	1	0	0
PBX2	5089	broad.mit.edu	37	6	32154610	32154610	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:32154610C>T	ENST00000375050.4	-	7	1363	c.1093G>A	c.(1093-1095)Gat>Aat	p.D365N		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	365							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GAATAGGAATCTCCGTTGAGC	0.512000													49	46					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18301315	18301315	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:18301315G>A	ENST00000441493.2	-	26	4464	c.4112C>T	c.(4111-4113)tCc>tTc	p.S1371F		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1371	Pro-rich.					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)		ATCCTGGGGGGACTTTTCAAC	0.637000													116	151					0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22749088	22749088	+	RNA	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:22749088C>T	ENST00000508166.1	+	0	558				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000503442.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCTTCAGTACCTTTGGGGATC	0.423000													42	22					0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781894	128781894	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:128781894G>A	ENST00000529694.1	+	2	1102	c.726G>A	c.(724-726)cgG>cgA	p.R242R	KCNJ5_ENST00000533599.1_Silent_p.R242R|KCNJ5_ENST00000338350.4_Silent_p.R242R	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	242					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	TCAAGTCCCGGCAGACCAAAG	0.612000													51	8					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1953652	1953652	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:1953652C>T	ENST00000382722.5	-	25	2748	c.2386G>A	c.(2386-2388)Gac>Aac	p.D796N	CACNA2D4_ENST00000539048.2_5'UTR|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.D732N|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.D771N|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.D796N|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.D732N|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.D657N	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	796						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GGGAAGCGGTCCAGGGTGAAC	0.597000													16	15					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141768492	141768492	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:141768492G>A	ENST00000475668.2	+	43	5104	c.5050G>A	c.(5050-5052)Gat>Aat	p.D1684N	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1684	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCGTTGGTACGATTACTACAC	0.428000													18	42					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177199087	177199087	+	Silent	SNP	G	G	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:177199087G>T	ENST00000361539.4	+	2	387	c.75G>T	c.(73-75)ctG>ctT	p.L25L		NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		25						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TGCTGGCACTGGGCCTGCCTG	0.672000													7	28					5.18039e-06	5.23086e-06	1	1	0
OR2L2	26246	broad.mit.edu	37	1	248201627	248201627	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:248201627T>C	ENST00000366479.2	+	1	154	c.58T>C	c.(58-60)Tca>Cca	p.S20P	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GTTCCCACAATCAAGAATTGG	0.378000													69	85					0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15053175	15053175	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:15053175G>T	ENST00000248072.3	+	1	875	c.875G>T	c.(874-876)aGg>aTg	p.R292M		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R292K(1)		large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					TACAGCCTGAGGAACAAGGAC	0.532000													37	64					2.52991e-16	2.59611e-16	1	1	0
COPS7A	50813	broad.mit.edu	37	12	6839855	6839855	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:6839855C>T	ENST00000543155.1	+	7	1139	c.657C>T	c.(655-657)acC>acT	p.T219T	COPS7A_ENST00000538410.1_Intron|COPS7A_ENST00000229251.3_Silent_p.T219T|COPS7A_ENST00000534947.1_Silent_p.T219T|COPS7A_ENST00000542150.1_3'UTR|COPS7A_ENST00000534877.1_Silent_p.T219T|COPS7A_ENST00000539735.1_Silent_p.T219T	NM_001164094.1	NP_001157566.1	Q9UBW8	CSN7A_HUMAN	COP9 signalosome subunit 7A	219					cullin deneddylation	cytoplasm|signalosome				endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						TTAAAAAAACCATTAAAGTTA	0.547000													15	15					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94049585	94049585	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:94049585C>G	ENST00000297268.6	+	35	2591	c.2120C>G	c.(2119-2121)cCt>cGt	p.P707R		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	707			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	cctgctggtcctCGGGGAAGC	0.453000										HNSCC(75;0.22)			15	50					0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80772794	80772794	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:80772794G>A	ENST00000355528.4	+	13	1432	c.1302G>A	c.(1300-1302)ccG>ccA	p.P434P	TBCD_ENST00000539345.2_Silent_p.P434P|TBCD_ENST00000397466.2_Silent_p.P48P	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	434					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TGTTGCTGCCGTCTCGACTCG	0.627000													3	27					0	0	1	0	0
ADK	132	broad.mit.edu	37	10	76468180	76468180	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:76468180C>T	ENST00000372734.3	+	11	1202	c.1015C>T	c.(1015-1017)Cct>Tct	p.P339S	ADK_ENST00000286621.2_Missense_Mutation_p.P356S|ADK_ENST00000539909.1_Missense_Mutation_p.P299S|ADK_ENST00000541550.1_Missense_Mutation_p.P321S	NM_001123.3|NM_001202449.1	NP_001114.2|NP_001189378.1	P55263	ADK_HUMAN	adenosine kinase	356					purine base metabolic process|purine ribonucleoside salvage	cytosol	adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	CTGCACCTTTCCTGAGAAGCC	0.473000													13	18					0	0	1	0	0
SEC31B	25956	broad.mit.edu	37	10	102265162	102265162	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:102265162T>A	ENST00000370345.3	-	10	1232	c.1135A>T	c.(1135-1137)Aaa>Taa	p.K379*	SEC31B_ENST00000451524.1_Nonsense_Mutation_p.K379*	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	379					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		TTGGGGGGTTTTTTCAGGGGA	0.507000													113	138					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116101408	116101408	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:116101408C>T	ENST00000410059.1	+	3	671	c.191C>T	c.(190-192)tCg>tTg	p.S64L	DPP10_ENST00000409163.1_Missense_Mutation_p.S14L|DPP10_ENST00000310323.8_Missense_Mutation_p.S57L|DPP10_ENST00000393147.2_Missense_Mutation_p.S68L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	64					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CTCACAAATTCGTCAGAAACC	0.348000													5	44					0	0	1	0	0
SLC6A6	6533	broad.mit.edu	37	3	14508048	14508048	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:14508048C>T	ENST00000454876.2	+	7	1086	c.757C>T	c.(757-759)Cca>Tca	p.P253S	SLC6A6_ENST00000360861.3_Missense_Mutation_p.P253S			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	253					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						AGCCACTTTTCCATTCGCCAT	0.592000													96	20					0	0	1	0	0
SLC25A45	283130	broad.mit.edu	37	11	65147339	65147339	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:65147339G>A	ENST00000417511.2	-	7	1160	c.27_splice	c.e7+1	p.S9_splice	SLC25A45_ENST00000526432.1_Splice_Site_p.S51_splice|SLC25A45_ENST00000527174.1_Splice_Site_p.S51_splice|SLC25A45_ENST00000377152.2_Splice_Site_p.S9_splice|SLC25A45_ENST00000534028.1_Intron|SLC25A45_ENST00000360662.3_Intron|SLC25A45_ENST00000294187.6_Splice_Site_p.S9_splice|SLC25A45_ENST00000398802.1_Splice_Site_p.S51_splice	NM_001278251.1	NP_001265180.1	Q8N413	S2545_HUMAN	solute carrier family 25, member 45	51					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						GCCACTCACGGACTCATGGCG	0.612000													34	26					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167240194	167240194	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:167240194C>T	ENST00000308378.3	-	12	1932	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	WDR49_ENST00000476376.1_Missense_Mutation_p.E368K|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	543										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AAAGAAATTTCCTTTTGAATC	0.318000													11	20					0	0	1	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98774978	98774978	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:98774978C>T	ENST00000407474.3	+	4	1602	c.1089C>T	c.(1087-1089)tcC>tcT	p.S363S				Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	0					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										CTGTGACATCCCGTTCTCTGA	0.413000													16	13					0	0	1	0	0
ZNF699	374879	broad.mit.edu	37	19	9406613	9406613	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:9406613G>A	ENST00000591998.1	-	6	1695	c.1467C>T	c.(1465-1467)tcC>tcT	p.S489S	ZNF699_ENST00000308650.3_Silent_p.S489S			Q32M78	ZN699_HUMAN	zinc finger protein 699	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTTCGGTGAGGGATGAGGAAC	0.443000													17	30					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209823368	209823368	+	Nonsense_Mutation	SNP	G	G	A	rs121912481		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:209823368G>A	ENST00000391911.1	-	2	513	c.124C>T	c.(124-126)Cga>Tga	p.R42*	LAMB3_ENST00000356082.4_Nonsense_Mutation_p.R42*|LAMB3_ENST00000367030.3_Nonsense_Mutation_p.R42*	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	42	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GATGAAGCTCGGAGAAACCGG	0.617000													19	84					0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390696	61390696	+	RNA	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr18:61390696C>T	ENST00000544088.1	+	0	1304				SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CTGTGACTTTCCCACGGCCAA	0.483000													7	6					0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55638908	55638908	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:55638908T>A	ENST00000370830.3	-	4	1664	c.966A>T	c.(964-966)aaA>aaT	p.K322N	BMP5_ENST00000446683.2_Missense_Mutation_p.K322N	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	322					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GGTTTTGATTTTTTCGTTTGT	0.473000													19	38					0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43098319	43098319	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:43098319C>T	ENST00000230419.4	+	5	953	c.732C>T	c.(730-732)ttC>ttT	p.F244F	PTK7_ENST00000352931.2_Silent_p.F244F|PTK7_ENST00000345201.2_Silent_p.F244F|PTK7_ENST00000349241.2_Silent_p.F244F|PTK7_ENST00000471863.1_Silent_p.F244F|PTK7_ENST00000481273.1_Silent_p.F252F	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	244	Ig-like C2-type 3.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGGCCATGTTCCATTGCCAGT	0.592000													46	30					0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330475	125330475	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:125330475G>A	ENST00000304865.2	-	1	363	c.282C>T	c.(280-282)tcC>tcT	p.S94S		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						ACCCAGCATAGGAGATGGTCT	0.463000													22	38					0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98002537	98002537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:98002537C>T	ENST00000355273.2	+	1	806	c.806C>T	c.(805-807)tCt>tTt	p.S269F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						CGCCCTGCATCTCCACAAGCA	0.393000													24	30					0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85992034	85992034	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:85992034C>G	ENST00000372105.3	-	4	1542	c.1521G>C	c.(1519-1521)aaG>aaC	p.K507N		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	507	Fibronectin type-III.					integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CACACTGCTCCTTCCGGGGCA	0.542000													12	17					0	0	1	0	0
DUPD1	338599	broad.mit.edu	37	10	76797614	76797614	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:76797614C>T	ENST00000338487.5	-	3	642	c.643G>A	c.(643-645)Gag>Aag	p.E215K		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	215						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)					CTGCCATCCTCCTCCTCACCG	0.652000													40	60					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27309061	27309061	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:27309061C>T	ENST00000397497.4	+	18	2146	c.1695C>T	c.(1693-1695)ctC>ctT	p.L565L	PTK2B_ENST00000517339.1_Intron|PTK2B_ENST00000544172.1_Intron|PTK2B_ENST00000420218.2_Intron|PTK2B_ENST00000397501.1_Intron|PTK2B_ENST00000338238.4_Intron|PTK2B_ENST00000346049.5_Intron			Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	0	Protein kinase.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		GGGGTTTCCTCTTGGCACCTT	0.592000													20	44					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46658651	46658651	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:46658651C>T	ENST00000544460.1	+	1	3040	c.2786C>T	c.(2785-2787)tCa>tTa	p.S929L	TDRD6_ENST00000316081.6_Missense_Mutation_p.S929L	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	929					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GCTCTGGCTTCAATTAATGAA	0.333000													29	86					0	0	1	0	0
ZNF780A	284323	broad.mit.edu	37	19	40580675	40580675	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:40580675T>A	ENST00000450241.2	-	6	1883	c.1572A>T	c.(1570-1572)gaA>gaT	p.E524D	ZNF780A_ENST00000455521.1_Missense_Mutation_p.E559D|ZNF780A_ENST00000340963.5_Missense_Mutation_p.E558D|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000595687.2_Missense_Mutation_p.E558D|ZNF780A_ENST00000594395.1_Missense_Mutation_p.E559D|ZNF780A_ENST00000414720.2_Intron			O75290	Z780A_HUMAN	zinc finger protein 780A	558					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ATTCCTTACATTCAAAGGGTT	0.383000													66	78					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	A	rs28934573		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:7577559G>A	ENST00000420246.2	-	7	854	c.722C>T	c.(721-723)tCc>tTc	p.S241F	TP53_ENST00000455263.2_Missense_Mutation_p.S241F|TP53_ENST00000413465.2_Missense_Mutation_p.S241F|TP53_ENST00000269305.4_Missense_Mutation_p.S241F|TP53_ENST00000445888.2_Missense_Mutation_p.S241F|TP53_ENST00000359597.4_Missense_Mutation_p.S241F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCCATGCAGGAACTGTTACA	0.572000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			70	9					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84608238	84608238	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:84608238C>T	ENST00000344803.2	+	4	2900	c.2853C>T	c.(2851-2853)atC>atT	p.I951I		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CCACCTTCATCTCTCAGGGAG	0.478000													30	44					0	0	1	0	0
GALR1	2587	broad.mit.edu	37	18	74980740	74980740	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr18:74980740G>A	ENST00000299727.3	+	3	932	c.932G>A	c.(931-933)aGg>aAg	p.R311K		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	311					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		GAAAATTTCAGGAAGGCCTAT	0.448000													13	35					0	0	1	0	0
AOC1	26	broad.mit.edu	37	7	150554823	150554823	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:150554823C>T	ENST00000493429.1	+	4	1849	c.1265C>T	c.(1264-1266)cCc>cTc	p.P422L	AOC1_ENST00000416793.2_Missense_Mutation_p.P422L|AOC1_ENST00000360937.4_Missense_Mutation_p.P422L|AOC1_ENST00000467291.1_Missense_Mutation_p.P422L					amine oxidase, copper containing 1																		TTTGAAATGCCCACAGGGGTG	0.572000													31	39					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4215446	4215446	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:4215446C>T	ENST00000404826.2	+	34	5115	c.4976C>T	c.(4975-4977)tCg>tTg	p.S1659L	SDK1_ENST00000389531.3_Intron	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1659	Fibronectin type-III 10.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGCTCCACATCGACGATGTGT	0.587000													76	145					0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148855983	148855983	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:148855983C>T	ENST00000367467.3	+	16	2516	c.2041C>T	c.(2041-2043)Ccg>Tcg	p.P681S		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	681	SAM 1.						protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TATCAGGGACCCGGAACACAG	0.483000													34	9					0	0	1	0	0
ARFGAP3	26286	broad.mit.edu	37	22	43218408	43218408	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:43218408G>A	ENST00000263245.5	-	9	899	c.680C>T	c.(679-681)gCc>gTc	p.A227V	ARFGAP3_ENST00000429508.2_Missense_Mutation_p.A155V|ARFGAP3_ENST00000437119.2_Missense_Mutation_p.A183V	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	227					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TCCTTTTTTGGCCCCAAGCTA	0.423000													58	68					0	0	1	0	0
MSTN	2660	broad.mit.edu	37	2	190922019	190922019	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:190922019G>A	ENST00000260950.4	-	3	1225	c.1093C>T	c.(1093-1095)Cca>Tca	p.P365S	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	365					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.P365S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			ACCATCGCTGGAATTTTCCCA	0.403000													18	3					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21097533	21097533	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:21097533G>A	ENST00000377122.4	-	26	3063	c.2667C>T	c.(2665-2667)ttC>ttT	p.F889F	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	889	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GACCTGTACCGAAAGTACTGC	0.463000													35	48					0	0	1	0	0
GKN2	200504	broad.mit.edu	37	2	69172503	69172503	+	Silent	SNP	A	A	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:69172503A>G	ENST00000328895.4	-	6	660	c.552T>C	c.(550-552)gtT>gtC	p.V184V	GKN2_ENST00000481498.1_3'UTR	NM_182536.2	NP_872342.2	Q86XP6	GKN2_HUMAN	gastrokine 2	184						extracellular region				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						AATCATCCTAAACATGAATGT	0.393000													146	29					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35957468	35957468	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:35957468G>A	ENST00000274278.3	-	5	1254	c.897C>T	c.(895-897)gcC>gcT	p.A299A	UGT3A1_ENST00000503189.1_Silent_p.A299A|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Silent_p.A265A	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	299						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGAGCCAAAGGCCACAAGGA	0.493000													32	10					0	0	1	0	0
RPGR	6103	broad.mit.edu	37	X	38150211	38150211	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:38150211C>T	ENST00000378505.2	-	13	1749		c.e13+1		RPGR_ENST00000309513.3_Splice_Site|RPGR_ENST00000339363.3_Splice_Site|RPGR_ENST00000318842.7_Splice_Site|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Splice_Site|RPGR_ENST00000338898.3_Splice_Site	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TCATATTATACCTTTTGTTTC	0.269000													11	5					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065398	9065398	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:9065398A>T	ENST00000397910.4	-	3	22251	c.22048T>A	c.(22048-22050)Tcc>Acc	p.S7350T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7352	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						ATTACCAAGGAGGGAGTGGTT	0.488000													13	21					0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157766891	157766891	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:157766891C>T	ENST00000358292.3	-	9	1142	c.1091_splice	c.e9+1	p.R364_splice	FCRL1_ENST00000368176.3_Splice_Site_p.K406_splice|FCRL1_ENST00000491942.1_Splice_Site_p.K405_splice|FCRL1_ENST00000489998.1_5'UTR	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	0						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGACTCTTACCTTGTCCTCCA	0.393000													36	34					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058672	9058672	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:9058672G>T	ENST00000397910.4	-	3	28977	c.28774C>A	c.(28774-28776)Cag>Aag	p.Q9592K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9594	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						GTGATGTCCTGGGAGGTTCTG	0.522000													7	12					1.12685e-05	1.13625e-05	1	1	0
HMGB4	127540	broad.mit.edu	37	1	34330046	34330046	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:34330046G>A	ENST00000522796.1	+	4	2159	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	HMGB4_ENST00000425537.1_3'UTR|CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000519684.1_Missense_Mutation_p.R85Q			B2R4X7	B2R4X7_HUMAN	high mobility group box 4	85						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGGAAGAAACGGAGAAAGCGG	0.502000													53	49					0	0	1	0	0
BLVRA	644	broad.mit.edu	37	7	43843289	43843289	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:43843289G>T	ENST00000402924.1	+	8	638	c.475G>T	c.(475-477)Gaa>Taa	p.E159*	BLVRA_ENST00000265523.4_Nonsense_Mutation_p.E159*	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	159					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	CCCGTTGGAAGAAGAGCGGTT	0.587000													127	305					2.65394e-64	2.74279e-64	1	1	0
ING2	3622	broad.mit.edu	37	4	184432007	184432007	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:184432007C>T	ENST00000302327.3	+	2	947	c.745C>T	c.(745-747)Cca>Tca	p.P249S	ING2_ENST00000434682.2_Missense_Mutation_p.P209S	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	249					chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TACCTATAAACCAAAGGGGAA	0.383000													17	39					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107568638	107568638	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:107568638G>A	ENST00000374736.3	-	31	4742	c.4348C>T	c.(4348-4350)Cag>Tag	p.Q1450*		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1450					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTCCCATTCTGGAAGAGGTCC	0.582000													10	19					0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97096387	97096387	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:97096387G>A	ENST00000371247.2	-	30	3719	c.3530C>T	c.(3529-3531)cCc>cTc	p.P1177L	SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.P1177L|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000277982.5_Missense_Mutation_p.P1036L|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.P1036L|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.P1131L|SORBS1_ENST00000371239.1_Intron			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	1177					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GGGCTTGCCGGGCCGGCTCTC	0.587000													51	79					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766995	57766995	+	Silent	SNP	G	G	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:57766995G>C	ENST00000371030.2	+	1	921	c.921G>C	c.(919-921)ccG>ccC	p.P307P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	307						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGAAGTCGCCGACCGCCGGGA	0.701000													12	24					0	0	1	0	0
INPP5B	3633	broad.mit.edu	37	1	38411978	38411978	+	Translation_Start_Site	SNP	C	C	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:38411978C>A	ENST00000373023.2	-	2	96	c.3G>T	c.(1-3)atG>atT	p.M1I	INPP5B_ENST00000373024.3_Start_Codon_SNP_p.M1I|INPP5B_ENST00000373021.1_Start_Codon_SNP_p.M1I|INPP5B_ENST00000373026.1_Start_Codon_SNP_p.M1I	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	1					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)				CAGACTGGTCCATGCTGGCCC	0.617000													11	23					4.93089e-13	5.04564e-13	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129722452	129722452	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:129722452C>T	ENST00000421865.2	+	38	5578	c.5529C>T	c.(5527-5529)aaC>aaT	p.N1843N		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1843	Domain II and I.				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)		ATGAAGCCAACCGTCTTGCAG	0.403000													14	32					0	0	1	0	0
PARP9	83666	broad.mit.edu	37	3	122259599	122259599	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:122259599G>A	ENST00000462315.1	-	8	1778	c.1485C>T	c.(1483-1485)gcC>gcT	p.A495A	PARP9_ENST00000360356.2_Silent_p.A530A|PARP9_ENST00000477522.2_Silent_p.A495A|PARP9_ENST00000492382.1_Silent_p.A75A|PARP9_ENST00000471785.1_Silent_p.A495A	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	530					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TCCATGCGTGGGCCTCATACA	0.453000													77	115					0	0	1	0	0
ASIC3	9311	broad.mit.edu	37	7	150745996	150745996	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:150745996G>A	ENST00000357922.4	+	1	618	c.24G>A	c.(22-24)gaG>gaA	p.E8E	ASIC3_ENST00000349064.5_Silent_p.E8E|ASIC3_ENST00000297512.8_Silent_p.E8E	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	8					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										CAGGCCCAGAGGAGGCCCGGC	0.672000													33	101					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112455697	112455697	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:112455697C>T	ENST00000230538.7	-	26	3926	c.3529G>A	c.(3529-3531)Gga>Aga	p.G1177R	LAMA4_ENST00000389463.4_Missense_Mutation_p.G1170R|LAMA4_ENST00000424408.2_Missense_Mutation_p.G1170R|LAMA4_ENST00000522006.1_Missense_Mutation_p.G1170R	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1177	Laminin G-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GGAGGAGCTCCTCCAATGTAT	0.398000													9	6					0	0	1	0	0
DPYSL4	10570	broad.mit.edu	37	10	134016275	134016275	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:134016275C>T	ENST00000338492.4	+	12	1571	c.1407C>T	c.(1405-1407)gtC>gtT	p.V469V	DPYSL4_ENST00000368629.1_Intron|DPYSL4_ENST00000368627.1_Intron	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	469					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GCCGCTTCGTCCCTCGGAAAA	0.642000													43	44					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7982674	7982674	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:7982674G>A	ENST00000328600.2	-	2	646	c.485C>T	c.(484-486)cCc>cTc	p.P162L		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	162							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGCCAGTGAGGGCTTTTCCCC	0.577000													13	16					0	0	1	0	0
SLC39A10	57181	broad.mit.edu	37	2	196599658	196599658	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:196599658C>T	ENST00000409086.3	+	10	2664	c.2389C>T	c.(2389-2391)Cct>Tct	p.P797S	SLC39A10_ENST00000359634.5_Missense_Mutation_p.P797S|SLC39A10_ENST00000541054.1_Missense_Mutation_p.P347S	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	797					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TGGCTTTTGTCCTGTGGGGCA	0.368000													4	92					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8620608	8620608	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:8620608G>A	ENST00000338257.8	-	2	343	c.76C>T	c.(76-78)Ccc>Tcc	p.P26S		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	26	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GTGATCTGGGGAAGAAGCACC	0.642000													21	35					0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102968044	102968044	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:102968044T>G	ENST00000233954.1	+	11	1605	c.1334T>G	c.(1333-1335)aTt>aGt	p.I445S		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	445	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AGGCGGCACATTTTCATCCTG	0.458000													6	47					0	0	1	0	0
HIST1H1E	3008	broad.mit.edu	37	6	26156897	26156897	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:26156897G>A	ENST00000304218.3	+	1	339	c.279G>A	c.(277-279)ctG>ctA	p.L93L		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	93	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AGGGCACCCTGGTGCAGACCA	0.612000													19	65					0	0	1	0	0
KLRC1	3821	broad.mit.edu	37	12	10603136	10603136	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:10603136C>T	ENST00000544822.1	-	4	617	c.230G>A	c.(229-231)gGa>gAa	p.G77E	KLRC1_ENST00000359151.3_Missense_Mutation_p.G77E|KLRC1_ENST00000347831.5_Missense_Mutation_p.G77E|KLRC1_ENST00000536188.1_Missense_Mutation_p.G77E|KLRC1_ENST00000408006.3_Missense_Mutation_p.G77E	NM_213658.2	NP_998823.1	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	77					cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						ACAGATAATTCCCAGGATCCC	0.418000													38	65					0	0	1	0	0
NCEH1	57552	broad.mit.edu	37	3	172353837	172353837	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr3:172353837G>A	ENST00000475381.1	-	4	711	c.478C>T	c.(478-480)Cat>Tat	p.H160Y	NCEH1_ENST00000543711.1_Missense_Mutation_p.H27Y|NCEH1_ENST00000538775.1_Missense_Mutation_p.H200Y|NCEH1_ENST00000273512.3_Missense_Mutation_p.H192Y			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	160					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						ACAACATCATGAATTTGCTCA	0.393000													77	99					0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24652714	24652714	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:24652714G>C	ENST00000354464.6	-	21	2245	c.2069C>G	c.(2068-2070)gCc>gGc	p.A690G	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	690					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TGGAAGGAAGGCCACACTACA	0.582000													5	20					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140165896	140165896	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:140165896G>A	ENST00000504120.2	+	1	21	c.21G>A	c.(19-21)ggG>ggA	p.G7G	PCDHA1_ENST00000394633.3_Silent_p.G7G|PCDHA1_ENST00000378133.3_Silent_p.G7G	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)			CTAGGAGAGGGGGCCTGGGAG	0.502000													80	12					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98145823	98145823	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:98145823C>T	ENST00000357947.3	-	15	2227	c.2002G>A	c.(2002-2004)Gaa>Aaa	p.E668K		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	668	CUB 3.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TCATTGCCTTCCAGTTCAAAC	0.537000													18	25					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50101043	50101043	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:50101043G>A	ENST00000418929.2	+	4	3463	c.3451G>A	c.(3451-3453)Ggc>Agc	p.G1151S		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	330							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		AGGACCCGATGGCCCCCGGCG	0.746000													9	3					0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74701788	74701788	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:74701788G>A	ENST00000370895.1	+	4	381	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	TNNI3K_ENST00000370893.1_Missense_Mutation_p.E116K|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.E116K|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.E116K|TNNI3K_ENST00000370891.2_Missense_Mutation_p.E116K|TNNI3K_ENST00000326637.3_Missense_Mutation_p.E15K			Q59H18	TNI3K_HUMAN		15						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										TTTACTAGATGAATGGAAGAA	0.299000													5	16					0	0	1	0	0
EPS15L1	58513	broad.mit.edu	37	19	16503152	16503152	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:16503152G>A	ENST00000455140.2	-	19	2132	c.2066C>T	c.(2065-2067)tCg>tTg	p.S689L	EPS15L1_ENST00000535753.2_Missense_Mutation_p.S689L|EPS15L1_ENST00000248070.6_Missense_Mutation_p.S689L|EPS15L1_ENST00000594975.1_Missense_Mutation_p.S691L	NM_001258374.1	NP_001245303.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	689	15 X 3 AA repeats of D-P-F.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GAATGGATCCGAGGTAAATGG	0.537000													40	49					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23888421	23888421	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:23888421C>T	ENST00000355349.3	-	29	4099	c.3937G>A	c.(3937-3939)Gag>Aag	p.E1313K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1313				E -> G (in Ref. 14; CAA27381).	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)		TTGAGGTCCTCCAGCTGCTGG	0.597000													42	7					0	0	1	0	0
FBXO31	79791	broad.mit.edu	37	16	87367807	87367807	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:87367807C>T	ENST00000311635.7	-	8	1094	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	RP11-178L8.4_ENST00000568879.1_Missense_Mutation_p.A25T	NM_024735.3	NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	361					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding	p.R361H(2)|p.R189H(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		ATTGAAGTTGCGCTGGTTCTC	0.682000													8	155					0	0	1	0	0
TGM2	7052	broad.mit.edu	37	20	36779354	36779354	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:36779354C>T	ENST00000361475.2	-	4	712	c.539G>A	c.(538-540)tGg>tAg	p.W180*	TGM2_ENST00000536724.1_Nonsense_Mutation_p.W120*|TGM2_ENST00000536701.1_Nonsense_Mutation_p.W99*	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	180					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CCCAAAATTCCAAGGTATGTT	0.587000													121	170					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219903674	219903674	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:219903674G>A	ENST00000341552.5	-	3	180	c.97C>T	c.(97-99)Ctc>Ttc	p.L33F	CCDC108_ENST00000453220.1_Missense_Mutation_p.L33F|CCDC108_ENST00000441968.1_Missense_Mutation_p.L33F|CCDC108_ENST00000324264.6_5'UTR|CCDC108_ENST00000410037.1_Intron|CCDC108_ENST00000295729.2_Intron|CCDC108_ENST00000409865.3_Intron	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	33						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTCTTAGGAGAAGAGGAATA	0.453000													7	79					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11556319	11556319	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:11556319G>A	ENST00000262442.3	+	14	2663	c.2595_splice	c.e14+1	p.Q865_splice	DNAH9_ENST00000454412.2_Splice_Site_p.Q865_splice	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	865	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCCTTGTTCAGGTAATAACCC	0.428000													55	2					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450579	85450579	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:85450579A>G	ENST00000393217.2	+	8	2069	c.2008A>G	c.(2008-2010)Aaa>Gaa	p.K670E		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	670										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TATAGAAGGCAAAAGAAATGA	0.363000													7	24					0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51647925	51647925	+	Silent	SNP	C	C	T	rs117714252	by1000genomes	TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:51647925C>T	ENST00000317643.6	+	2	765	c.696C>T	c.(694-696)atC>atT	p.I232I	SIGLEC7_ENST00000305628.7_Intron|SIGLEC7_ENST00000600577.1_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	232	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		ACAGGACCATCCAACTCAATG	0.652000													26	49					0	0	1	0	0
SPATA5L1	79029	broad.mit.edu	37	15	45709580	45709580	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:45709580C>T	ENST00000305560.6	+	6	2050	c.1951C>T	c.(1951-1953)Cca>Tca	p.P651S		NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	651						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		CATCTATATCCCACCTCCAGA	0.383000													15	20					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11000982	11000982	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:11000982C>A	ENST00000324288.8	+	11	1766	c.1633C>A	c.(1633-1635)Ctc>Atc	p.L545I	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	545	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CACCCTCCTCCTCACAGCCCG	0.697000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								9	19					1.61879e-10	1.6518e-10	1	1	0
SBNO2	22904	broad.mit.edu	37	19	1112039	1112039	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:1112039C>T	ENST00000361757.3	-	23	2893	c.2656G>A	c.(2656-2658)Gcc>Acc	p.A886T	SBNO2_ENST00000438103.2_Missense_Mutation_p.A829T|SBNO2_ENST00000587024.1_Missense_Mutation_p.A876T	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	886					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACTCCGTGGCGCGGCGGTCT	0.662000													18	51					0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12187307	12187307	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:12187307G>C	ENST00000439326.3	+	4	1547	c.1372G>C	c.(1372-1374)Gat>Cat	p.D458H	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AAAGCCTTCAGATCTGCCTCA	0.423000													3	98					0	0	1	0	0
TBC1D24	57465	broad.mit.edu	37	16	2550412	2550412	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:2550412C>T	ENST00000567020.1	+	6	1568	c.1428C>T	c.(1426-1428)ttC>ttT	p.F476F	TBC1D24_ENST00000293970.5_Silent_p.F482F|TBC1D24_ENST00000434757.2_Silent_p.F482F|RP11-20I23.1_ENST00000564543.1_Intron	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	482	TLD.				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						TCTCGCCCTTCCTGGCCGCTC	0.697000													9	6					0	0	1	0	0
ENPP3	5169	broad.mit.edu	37	6	131996253	131996253	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:131996253G>A	ENST00000414305.1	+	10	1124	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	ENPP3_ENST00000543135.1_Missense_Mutation_p.A232T|ENPP3_ENST00000358229.5_Missense_Mutation_p.A266T|ENPP3_ENST00000357639.3_Missense_Mutation_p.A266T|ENPP3_ENST00000427148.2_3'UTR			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	266	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AGGTTTAAAAGCCGCTACCTA	0.408000													36	5					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66067186	66067186	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:66067186G>A	ENST00000349533.6	+	9	1291	c.1106G>A	c.(1105-1107)tGg>tAg	p.W369*	LEPR_ENST00000371058.1_Nonsense_Mutation_p.W369*|LEPR_ENST00000371060.3_Nonsense_Mutation_p.W369*|LEPR_ENST00000344610.8_Nonsense_Mutation_p.W369*|LEPR_ENST00000371059.3_Nonsense_Mutation_p.W369*|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	369	Ig-like.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATTGTTTGGTGGATGAATTTA	0.353000													16	61					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115523956	115523956	+	Splice_Site	SNP	G	G	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:115523956G>T	ENST00000369522.3	+	29	2622		c.e29-1		SYCP1_ENST00000369518.1_Splice_Site|SYCP1_ENST00000477590.1_Splice_Site	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1						cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTCAATGCAGAAAACACAAA	0.289000													4	12					0.014758	0.0147988	1	1	0
EHD2	30846	broad.mit.edu	37	19	48239706	48239706	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:48239706C>T	ENST00000263277.3	+	5	1247	c.996C>T	c.(994-996)atC>atT	p.I332I	EHD2_ENST00000538399.1_Silent_p.I196I|EHD2_ENST00000540884.1_3'UTR	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	332					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		AGCAGCTGATCCTCAAACTGC	0.517000													31	66					0	0	1	0	0
TCF7L2	6934	broad.mit.edu	37	10	114905824	114905824	+	Silent	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:114905824C>T	ENST00000355995.4	+	8	1350	c.843C>T	c.(841-843)ccC>ccT	p.P281P	TCF7L2_ENST00000536810.1_Silent_p.P281P|TCF7L2_ENST00000355717.4_Silent_p.P305P|TCF7L2_ENST00000352065.5_Silent_p.P258P|TCF7L2_ENST00000369389.1_5'UTR|TCF7L2_ENST00000543371.1_Silent_p.P281P|TCF7L2_ENST00000369397.4_Silent_p.P258P|TCF7L2_ENST00000545257.1_Silent_p.P281P|TCF7L2_ENST00000349937.2_Silent_p.P277P|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000538897.1_Silent_p.P281P|TCF7L2_ENST00000369395.1_Silent_p.P306P|TCF7L2_ENST00000534894.1_Silent_p.P281P			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	281	Mediates interaction with MAD2L2.|Pro-rich.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		ACCCCTACCCCACAGCTCTGA	0.517000			T	VTI1A	colorectal								63	95					0	0	1	0	0
WAPAL	23063	broad.mit.edu	37	10	88206201	88206201	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:88206201G>A	ENST00000298767.5	-	16	3592	c.3120C>T	c.(3118-3120)ttC>ttT	p.F1040F	WAPAL_ENST00000372075.1_Silent_p.F252F|WAPAL_ENST00000263070.7_Silent_p.F252F	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	1040	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CTCGCTCAAGGAATAGCTGAT	0.368000													5	13					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79033568	79033568	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:79033568G>A	ENST00000446378.2	+	2	9011	c.8980G>A	c.(8980-8982)Gat>Aat	p.D2994N		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2994						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACTCCCTGATGATAGTGAAAC	0.323000													13	1					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993876	140993876	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chrX:140993876C>T	ENST00000285879.4	+	4	972	c.686C>T	c.(685-687)gCc>gTc	p.A229V	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	229							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)					GAGGGTTTTGCCCAGTCTCCT	0.488000										HNSCC(15;0.026)			62	9					0	0	1	0	0
PNLIPRP2	5408	broad.mit.edu	37	10	118394431	118394431	+	RNA	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:118394431C>T	ENST00000537242.1	+	0	923				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		CTGATGGCTTCCTGGGCTATC	0.502000													12	21					0	0	1	0	0
KIAA0247	9766	broad.mit.edu	37	14	70171350	70171350	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:70171350C>T	ENST00000342745.4	+	4	662	c.349C>T	c.(349-351)Ccc>Tcc	p.P117S		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	117						integral to membrane				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		ACTTGGGGTCCCCACGCTGTC	0.507000													8	22					0	0	1	0	0
RAD52	5893	broad.mit.edu	37	12	1023639	1023639	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:1023639G>A	ENST00000358495.3	-	10	1063	c.925C>T	c.(925-927)Ctg>Ttg	p.L309L	RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000430095.2_Silent_p.L309L|RAD52_ENST00000539046.1_Silent_p.L232L	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	309					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			TCTTTCTCCAGGAGTGGTTCT	0.478000								Homologous recombination					37	28					0	0	1	0	0
MTRR	4552	broad.mit.edu	37	5	7895940	7895940	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:7895940C>T	ENST00000264668.2	+	12	1762	c.1732C>T	c.(1732-1734)Ccg>Tcg	p.P578S	MTRR_ENST00000440940.2_Missense_Mutation_p.P551S	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	578					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)	CGGCATAGCCCCGTTTATTGG	0.408000													81	13					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20544117	20544117	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:20544117G>A	ENST00000504154.1	+	21	2396	c.2143_splice	c.e21-1	p.G715_splice	SLIT2_ENST00000503823.1_Splice_Site_p.G707_splice|SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503837.1_Splice_Site_p.G711_splice|SLIT2_ENST00000273739.5_Splice_Site_p.G719_splice	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	715					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGCGATTTAGGAAATGATGAC	0.408000													129	86					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64464056	64464056	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr14:64464056C>T	ENST00000358025.3	+	25	3420	c.3190C>T	c.(3190-3192)Ccc>Tcc	p.P1064S	SYNE2_ENST00000344113.4_Missense_Mutation_p.P1064S|SYNE2_ENST00000554584.1_Missense_Mutation_p.P1064S|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1064					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGGAGGGGATCCCCACAGTGA	0.378000													10	3					0	0	1	0	0
KRT18P55	284085	broad.mit.edu	37	17	26604400	26604400	+	RNA	SNP	T	T	C			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:26604400T>C	ENST00000577198.1	-	0	561					NR_028334.1																						AGGACTCAGGTTTTGACGGCC	0.443000													54	3					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3788618	3788618	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:3788618G>A	ENST00000262367.5	-	26	5145	c.4336C>T	c.(4336-4338)Cgc>Tgc	p.R1446C	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1408C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1446	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.R1446C(6)|p.R1446G(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACGGCTGTGCGGAGGCAACGT	0.413000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						13	37					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103271216	103271216	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:103271216A>T	ENST00000520539.1	-	57	8704	c.8098T>A	c.(8098-8100)Tca>Aca	p.S2700T	UBR5_ENST00000518205.1_Missense_Mutation_p.S428T|UBR5_ENST00000220959.4_Missense_Mutation_p.S2699T|UBR5_ENST00000521922.1_Missense_Mutation_p.S2693T	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2700	HECT.				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)			GTCCTACCTGATTCATCATTG	0.343000													13	40					0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056926	120056926	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:120056926G>A	ENST00000235547.6	+	4	925	c.786G>A	c.(784-786)acG>acA	p.T262T	HSD3B1_ENST00000528909.1_Silent_p.T260T|HSD3B1_ENST00000369413.3_Silent_p.T260T	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	260					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	CAGATGACACGCCTCACCAAA	0.522000													50	35					0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36763691	36763691	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:36763691G>A	ENST00000431169.1	-	1	363	c.63C>T	c.(61-63)tcC>tcT	p.S21S	AOAH_ENST00000258749.5_Silent_p.S21S|AOAH_ENST00000535891.1_Silent_p.S21S	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	21					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GAGAGGCCGAGGACTGAAGAG	0.517000													30	22					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90661201	90661201	+	Silent	SNP	G	G	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:90661201G>A	ENST00000257749.4	-	7	1331	c.624C>T	c.(622-624)ccC>ccT	p.P208P	BACH2_ENST00000343122.3_Silent_p.P208P|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Silent_p.P208P	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	208						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CGTCAGGCTCGGGCAGCAGGG	0.577000													13	36					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67817967	67817967	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr18:67817967T>A	ENST00000255674.6	-	15	2218	c.1932A>T	c.(1930-1932)gaA>gaT	p.E644D	RTTN_ENST00000454359.1_Missense_Mutation_p.E644D|RTTN_ENST00000437017.1_Missense_Mutation_p.E644D	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	644							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CACCTAAACATTCCTGtaaaa	0.294000													35	33					0	0	1	0	0
GSS	2937	broad.mit.edu	37	20	33529574	33529574	+	Missense_Mutation	SNP	G	G	A	rs113191242		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr20:33529574G>A	ENST00000216951.2	-	6	648	c.550C>T	c.(550-552)Ccc>Tcc	p.P184S	GSS_ENST00000451957.2_Intron|GSS_ENST00000541098.1_Missense_Mutation_p.P56S	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	184					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	CCCTTGCTGGGATTATTAGAG	0.498000													41	50					0	0	1	0	0
LYVE1	10894	broad.mit.edu	37	11	10582264	10582264	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:10582264C>T	ENST00000256178.3	-	4	639	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	MRVI1-AS1_ENST00000529979.1_RNA|LYVE1_ENST00000529598.1_Missense_Mutation_p.E57K|MRVI1-AS1_ENST00000529829.1_RNA|LYVE1_ENST00000531706.1_5'UTR	NM_006691.3	NP_006682.2	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor 1	161					anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		ACAATAAATTCTGTTGTTTGT	0.443000													65	56					0	0	1	0	0
GAREM	64762	broad.mit.edu	37	18	29867615	29867615	+	Silent	SNP	T	T	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr18:29867615T>A	ENST00000399218.4	-	4	1000	c.945A>T	c.(943-945)ggA>ggT	p.G315G	GAREM_ENST00000269209.6_Silent_p.G315G|RP11-344B2.2_ENST00000579580.1_RNA	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		GCCAGCTCTCTCCCTTCACCA	0.537000													24	33					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157516958	157516958	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:157516958G>T	ENST00000361835.3	-	3	239	c.82C>A	c.(82-84)Cag>Aag	p.Q28K	FCRL5_ENST00000368190.3_Missense_Mutation_p.Q28K|FCRL5_ENST00000368188.2_Missense_Mutation_p.Q28K|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368189.3_Missense_Mutation_p.Q28K|FCRL5_ENST00000356953.4_Missense_Mutation_p.Q28K	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	28	Ig-like C2-type 1.					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)				CATGGAGGCTGGAGGAAAATA	0.537000													22	62					1.12875e-08	1.14693e-08	1	1	0
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1624-1629)gaccccfs	p.DP542fs	ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs|ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	542					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCAGCCAGAACCCCCCCAGGA	0.554													14	268	---	---	---	---					
ROCK2	9475	broad.mit.edu	37	2	11389836	11389837	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:11389836_11389837insA	ENST00000315872.6	-	4	860_861	c.412_413insT	c.(412-414)ggafs	p.G138fs	ROCK2_ENST00000462366.1_5'UTR	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	138	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TCTTTCTTCCCAAAAAAAGGCA	0.356													15	77	---	---	---	---					
STRN	6801	broad.mit.edu	37	2	37105142	37105144	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr2:37105142_37105144delAGA	ENST00000263918.4	-	10	1221_1223	c.1213_1215delTCT	c.(1213-1215)del	p.S405del	STRN_ENST00000379213.2_In_Frame_Del_p.S356del	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	405					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				ATGACTTTCCAGAAGAAGGAGGA	0.433													63	193	---	---	---	---					
SEC31A	22872	broad.mit.edu	37	4	83795800	83795801	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr4:83795800_83795801insT	ENST00000432794.1	-	6	765_766	c.602_603insA	c.(601-603)agafs	p.R201fs	SEC31A_ENST00000326950.5_Frame_Shift_Ins_p.R201fs|SEC31A_ENST00000311785.7_Frame_Shift_Ins_p.R201fs|SEC31A_ENST00000513858.1_Frame_Shift_Ins_p.R201fs|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000509142.1_Frame_Shift_Ins_p.R201fs|SEC31A_ENST00000508502.1_Frame_Shift_Ins_p.R201fs|SEC31A_ENST00000505984.1_Frame_Shift_Ins_p.R201fs|SEC31A_ENST00000505472.1_Frame_Shift_Ins_p.R201fs|SEC31A_ENST00000500777.2_Frame_Shift_Ins_p.R201fs|SEC31A_ENST00000448323.1_Frame_Shift_Ins_p.R201fs|SEC31A_ENST00000443462.2_Frame_Shift_Ins_p.R196fs|SEC31A_ENST00000395310.2_Frame_Shift_Ins_p.R201fs|SEC31A_ENST00000355196.2_Frame_Shift_Ins_p.R201fs|SEC31A_ENST00000508479.1_Frame_Shift_Ins_p.R201fs|SEC31A_ENST00000348405.4_Frame_Shift_Ins_p.R201fs			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	201	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TGATTGGCTCATTTTTTCTAAG	0.411													7	147	---	---	---	---					
NIM1K	167359	broad.mit.edu	37	5	43246078	43246078	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:43246078delG	ENST00000512796.1	+	2	1700	c.201delG	c.(199-201)ctfs	p.L67fs	NIM1_ENST00000326035.2_Frame_Shift_Del_p.L67fs			Q8IY84	NIM1_HUMAN		67							ATP binding|magnesium ion binding|protein serine/threonine kinase activity										AGATCACGCTGGGGAAACGGA	0.557													10	95	---	---	---	---					
CTC-338M12.9	0	broad.mit.edu	37	5	180708697	180708698	+	RNA	INS	-	-	A	rs1815381		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr5:180708697_180708698insA	ENST00000412295.2	+	0	238																											ggggcggtaggcgggggctgga	0.718													7	16	---	---	---	---					
PRRC2A	7916	broad.mit.edu	37	6	31594939	31594939	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:31594939delC	ENST00000376033.2	+	11	1488	c.1254delC	c.(1252-1254)ggfs	p.G418fs	PRRC2A_ENST00000376007.4_Frame_Shift_Del_p.G418fs	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	418	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CTCACCGGGGCCCCGCCGGGA	0.637													20	46	---	---	---	---					
STK38	11329	broad.mit.edu	37	6	36465583	36465583	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:36465583delA	ENST00000229812.7	-	12	1431	c.1146delT	c.(1144-1146)ttfs	p.F382fs		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	382	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAACGCCTTCAAAAAAAGAGT	0.368													15	70	---	---	---	---					
PHF3	23469	broad.mit.edu	37	6	64423251	64423251	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr6:64423251delT	ENST00000262043.3	+	16	6107	c.5767delT	c.(5767-5769)ttfs	p.F1923fs	PHF3_ENST00000393387.1_Frame_Shift_Del_p.F1923fs			Q92576	PHF3_HUMAN	PHD finger protein 3	1923					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CCGCCAGAGATTTTATAGTGA	0.483													187	113	---	---	---	---					
IQCE	23288	broad.mit.edu	37	7	2618122	2618122	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:2618122delG	ENST00000402050.2	+	8	776	c.592delG	c.(592-594)ttfs	p.V198fs	IQCE_ENST00000325979.7_Frame_Shift_Del_p.V133fs|IQCE_ENST00000404984.1_Frame_Shift_Del_p.V147fs|IQCE_ENST00000438376.2_Frame_Shift_Del_p.V182fs	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	198										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)		CACGGATTTTGTTCGGACTCT	0.597													89	115	---	---	---	---					
EPHB6	2051	broad.mit.edu	37	7	142561447	142561448	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr7:142561447_142561448insG	ENST00000392957.2	+	6	946_947	c.159_160insG	c.(157-162)ccggggfs	p.PG53fs	EPHB6_ENST00000442129.1_Frame_Shift_Ins_p.PG53fs|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	53						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCTACCCACCAGGGGGGGTGAG	0.574													26	203	---	---	---	---					
ZFHX4	79776	broad.mit.edu	37	8	77617337	77617337	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr8:77617337delA	ENST00000521891.2	+	2	1462	c.1014delA	c.(1012-1014)ccfs	p.P338fs	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.P338fs|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.P338fs|ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.P338fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	338						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)			TTCTGGAACCAAAAAAATCCA	0.428										HNSCC(33;0.089)			15	104	---	---	---	---					
SPATA31A6	389730	broad.mit.edu	37	9	43627338	43627347	+	Frame_Shift_Del	DEL	ATTTCATTGA	ATTTCATTGA	-			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr9:43627338_43627347delATTTCATTGA	ENST00000332857.6	-	4	1368_1377	c.1340_1349delTCAATGAAAT	c.(1339-1350)tgfs	p.FNEM447fs		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		GACATTGGACATTTCATTGAACAAGAAAGG	0.529													40	45	---	---	---	---					
COL17A1	1308	broad.mit.edu	37	10	105800146	105800147	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr10:105800146_105800147insG	ENST00000353479.5	-	40	3013_3014	c.2723_2724insC	c.(2722-2724)cggfs	p.R908fs	COL17A1_ENST00000369733.3_Frame_Shift_Ins_p.R908fs	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	908	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CAGGTGGGCCTGGGGGGCCGGA	0.540													45	99	---	---	---	---					
FNBP4	23360	broad.mit.edu	37	11	47788664	47788669	+	In_Frame_Del	DEL	GGTGGT	GGTGGT	-	rs59413596		TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr11:47788664_47788669delGGTGGT	ENST00000263773.5	-	1	184_189	c.172_177delACCACC	c.(172-177)del	p.TT58del	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	58								p.T58_T59delTT(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CAGTCACCGCGGTGGTGGTGGTCGTC	0.748													2	4	---	---	---	---					
ACRBP	84519	broad.mit.edu	37	12	6754500	6754501	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr12:6754500_6754501delCT	ENST00000229243.2	-	4	453_454	c.360_361delAG	c.(358-363)agtcfs	p.RV120fs	ACRBP_ENST00000536350.1_Frame_Shift_Del_p.RV120fs|ACRBP_ENST00000414226.2_Frame_Shift_Del_p.RV120fs	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	120						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						GAACACAGGACTCTCTGCAGGA	0.500													10	48	---	---	---	---					
MYO1E	4643	broad.mit.edu	37	15	59466410	59466411	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr15:59466410_59466411delTC	ENST00000288235.4	-	20	2477_2478	c.2078_2079delGA	c.(2077-2079)afs	p.R693fs		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	693					actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CATCATACTTTCTCTCTCTCAT	0.406													11	169	---	---	---	---					
TSC2	7249	broad.mit.edu	37	16	2136326	2136327	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:2136326_2136327delGT	ENST00000219476.3	+	37	5425_5426	c.4795_4796delGT	c.(4795-4797)gfs	p.V1599fs	TSC2_ENST00000350773.4_Frame_Shift_Del_p.V1576fs|TSC2_ENST00000353929.4_Frame_Shift_Del_p.V1556fs|TSC2_ENST00000401874.2_Frame_Shift_Del_p.V1532fs|TSC2_ENST00000439673.2_Frame_Shift_Del_p.V1496fs|TSC2_ENST00000382538.6_Frame_Shift_Del_p.V1484fs|TSC2_ENST00000568454.1_Frame_Shift_Del_p.V1543fs	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1599	Rap-GAP.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				AGGCCTGGACGTGTGTGGTGAG	0.649			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				12	67	---	---	---	---					
RP11-420N3.2	0	broad.mit.edu	37	16	5612503	5612504	+	RNA	INS	-	-	G	rs148489785	by1000genomes	TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:5612503_5612504insG	ENST00000569895.1	+	0	343																											GAGGAGAAGAAGGGGGAGGACC	0.550													3	4	---	---	---	---					
FBRS	64319	broad.mit.edu	37	16	30678904	30678904	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr16:30678904delG	ENST00000356166.6	+	15	3123	c.2035delG	c.(2035-2037)ggfs	p.G679fs	FBRS_ENST00000287468.5_Frame_Shift_Del_p.G159fs|FBRS_ENST00000395073.2_Frame_Shift_Del_p.G71fs|FBRS_ENST00000568722.1_Frame_Shift_Del_p.G71fs			Q9HAH7	FBRS_HUMAN	fibrosin	159								p.G159R(1)|p.G71R(1)		ovary(1)	1			Colorectal(24;0.103)			GGCAGCTCCCGGGGCCCACGG	0.632													2	4	---	---	---	---					
EVPL	2125	broad.mit.edu	37	17	74003457	74003457	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr17:74003457delC	ENST00000301607.3	-	22	6082	c.5829delG	c.(5827-5829)ggfs	p.G1943fs	EVPL_ENST00000586740.1_Frame_Shift_Del_p.G1965fs	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1943	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGTCGATGAGCCCCCCGGTCA	0.667													20	22	---	---	---	---					
C19orf57	79173	broad.mit.edu	37	19	14003610	14003611	+	In_Frame_Ins	INS	-	-	CCCACT			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:14003610_14003611insCCCACT	ENST00000454313.1	-	5	439_440	c.381_382insAGTGGG	c.(379-384)ggcctt>ggAGTGGGcctt	p.126_127insGV	C19orf57_ENST00000346736.2_In_Frame_Ins_p.126_127insGV|C19orf57_ENST00000591586.1_In_Frame_Ins_p.126_127insGV|C19orf57_ENST00000586783.1_In_Frame_Ins_p.126_127insGV			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	126					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			AGGCTAAAGGCCCCACTCCCAC	0.540													10	42	---	---	---	---					
NUDT19	390916	broad.mit.edu	37	19	33182995	33182997	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr19:33182995_33182997delGCT	ENST00000397061.3	+	1	129_131	c.129_131delGCT	c.(127-132)cgg>cg	p.RL43del		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	43	Nudix hydrolase.		R -> Q (in dbSNP:rs10413282).			mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					AGGGCTTCCGGCTGCTGCTGCTG	0.783													2	4	---	---	---	---					
MYH9	4627	broad.mit.edu	37	22	36696948	36696950	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-EE-A3J7-06A-11D-A20D-08	TCGA-EE-A3J7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c81f48f-8333-44f7-90cf-54aa2d2415f3	36054c7f-2559-4483-866d-b338e37e7123	g.chr22:36696948_36696950delCTC	ENST00000216181.5	-	22	3015_3017	c.2785_2787delGAG	c.(2785-2787)del	p.E929del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	929					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTGGCAGCGCTCCTCCTCCTCC	0.665			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				12	251	---	---	---	---					
