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
PTPN13	5783	broad.mit.edu	37	4	87643512	87643512	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:87643512G>T	ENST00000436978.1	+	10	2013	c.1533G>T	c.(1531-1533)gcG>gcT	p.A511A	PTPN13_ENST00000427191.2_Silent_p.A511A|PTPN13_ENST00000316707.6_Silent_p.A511A|PTPN13_ENST00000411767.2_Silent_p.A511A|PTPN13_ENST00000511467.1_Silent_p.A511A	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	511						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	p.A511A(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CAATCAAAGCGTCCATGCTTG	0.453000													35	152					6.53348e-20	1.19182e-19	0.003755	1	0
GIMAP8	155038	broad.mit.edu	37	7	150164204	150164204	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:150164204G>T	ENST00000307271.3	+	2	992	c.418G>T	c.(418-420)Ggg>Tgg	p.G140W		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	140						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	p.G140W(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GGATGATTTGGGGGATGACTT	0.453000													20	65					2.94398e-08	4.24958e-08	0.007413	1	0
GRIK1	2897	broad.mit.edu	37	21	31023525	31023525	+	Silent	SNP	G	G	A	rs146591187		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr21:31023525G>A	ENST00000399914.1	-	6	1388	c.867C>T	c.(865-867)caC>caT	p.H289H	GRIK1_ENST00000389125.3_Silent_p.H289H|GRIK1_ENST00000399907.1_Silent_p.H289H|GRIK1_ENST00000399913.1_Silent_p.H289H|GRIK1_ENST00000309434.7_Silent_p.H289H|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000535441.1_Silent_p.H289H|GRIK1_ENST00000327783.4_Silent_p.H289H|GRIK1_ENST00000389124.2_Silent_p.H289H|GRIK1_ENST00000399909.1_Silent_p.H289H			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	289					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	p.H289H(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TGGATGACACGTGAGGGTTGT	0.488000													6	58					0	0	0.001984	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564576	176564576	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:176564576C>G	ENST00000367662.3	+	3	3000	c.1836C>G	c.(1834-1836)tgC>tgG	p.C612W	PAPPA2_ENST00000367661.3_Missense_Mutation_p.C612W	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	612	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.C612W(2)		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						GGGGTGACTGCCGCCTGCAGG	0.587000													4	77					0	0	0.001984	0	0
SLC9A2	6549	broad.mit.edu	37	2	103300762	103300762	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:103300762C>T	ENST00000233969.2	+	5	1534	c.1392C>T	c.(1390-1392)gcC>gcT	p.A464A		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	464						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.A464A(1)		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						TTACGGCTGCCATTGTTGTCA	0.403000													50	152					0	0	0.003610	0	0
DNMT1	1786	broad.mit.edu	37	19	10249218	10249218	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:10249218C>G	ENST00000340748.4	-	34	4199	c.3964G>C	c.(3964-3966)Gag>Cag	p.E1322Q	DNMT1_ENST00000540357.1_Missense_Mutation_p.E1322Q|DNMT1_ENST00000359526.4_Missense_Mutation_p.E1338Q			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1322	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	p.E1322Q(1)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GGGAGCTTCTCTCCAGGGGCC	0.642000													6	52					0	0	0.001168	0	0
SLC25A40	55972	broad.mit.edu	37	7	87483519	87483519	+	Splice_Site	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:87483519C>A	ENST00000341119.5	-	5	610	c.264_splice	c.e5+1	p.L88_splice		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	88					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	p.L88F(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					ATCACCTTACCAATGTTCCCT	0.318000													17	68					1.67942e-08	2.45408e-08	0.006122	1	0
TAS2R38	5726	broad.mit.edu	37	7	141672757	141672757	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:141672757C>T	ENST00000547270.1	-	1	816	c.733G>A	c.(733-735)Gcc>Acc	p.A245T		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	245					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.A245T(1)		NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GACTTGAGGGCTTTAATGTGG	0.502000													23	63					0	0	0.001882	0	0
CD180	4064	broad.mit.edu	37	5	66479590	66479590	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:66479590G>A	ENST00000256447.4	-	3	1238	c.1081C>T	c.(1081-1083)Ctt>Ttt	p.L361F		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	361					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity	p.L361F(1)		cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		CCAACACCAAGGTGAAGTTTC	0.433000													35	82					0	0	0.003271	0	0
ENPEP	2028	broad.mit.edu	37	4	111441486	111441486	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:111441486C>A	ENST00000265162.5	+	10	2033	c.1691C>A	c.(1690-1692)cCa>cAa	p.P564Q		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	564					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	p.P564Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TTGTTGGACCCAAGAGCTAAC	0.418000													13	83					7.93312e-07	1.07327e-06	0.002450	1	0
ZNF283	284349	broad.mit.edu	37	19	44351434	44351434	+	Silent	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:44351434A>G	ENST00000324461.7	+	7	978	c.681A>G	c.(679-681)agA>agG	p.R227R	ZNF283_ENST00000588797.1_Silent_p.R88R	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R160R(1)|p.R227R(1)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				AACATGAGAGAACTCATACAG	0.363000													5	136					0	0	0.000602	0	0
ATG2B	55102	broad.mit.edu	37	14	96807883	96807883	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:96807883C>T	ENST00000359933.4	-	6	1793	c.900G>A	c.(898-900)caG>caA	p.Q300Q		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	300								p.Q300Q(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GCACTTCATTCTGTTTCAACG	0.398000													60	104					0	0	0.003610	0	0
CWC27	10283	broad.mit.edu	37	5	64082413	64082413	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:64082413A>C	ENST00000508024.1	+	6	759	c.558A>C	c.(556-558)aaA>aaC	p.K186N	CWC27_ENST00000381070.3_Missense_Mutation_p.K186N			Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	186					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	p.K186N(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AAAAAGAGAAACCAGAGGAGG	0.303000													3	19					0	0	0.000602	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554314	20554314	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:20554314C>A	ENST00000329697.6	-	12	1599	c.1431G>T	c.(1429-1431)gaG>gaT	p.E477D	ACSM2B_ENST00000567001.1_Missense_Mutation_p.E477D|ACSM2B_ENST00000565322.1_Missense_Mutation_p.E398D|ACSM2B_ENST00000565232.1_Missense_Mutation_p.E477D	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	477					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	p.E477D(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CATTCTCTACCTCCGAGGGTC	0.577000													14	82					1.05317e-09	1.60097e-09	0.002450	1	0
GPRIN2	9721	broad.mit.edu	37	10	46999701	46999701	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:46999701A>C	ENST00000374314.4	+	1	1776	c.821A>C	c.(820-822)cAt>cCt	p.H274P	GPRIN2_ENST00000374317.1_Missense_Mutation_p.H274P			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	274								p.H274P(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CAGGCTCAGCATGGGGTGAAG	0.632000													4	83					0	0	0.000248	0	0
CPPED1	55313	broad.mit.edu	37	16	12875245	12875245	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:12875245C>A	ENST00000381774.4	-	2	326	c.86G>T	c.(85-87)tGg>tTg	p.W29L	CPPED1_ENST00000433677.2_Missense_Mutation_p.W29L|CPPED1_ENST00000261660.4_Missense_Mutation_p.W29L	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	29							hydrolase activity|metal ion binding	p.W29L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TGGGCCTTTCCATTCGCTTTC	0.473000													6	37					0.00116845	0.00137464	0.001168	1	0
KLHL34	257240	broad.mit.edu	37	X	21674113	21674113	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:21674113G>A	ENST00000379499.2	-	1	2335	c.1794C>T	c.(1792-1794)gaC>gaT	p.D598D		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	598								p.D598D(1)		cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						AACGGTCCAGGTCGAGGTCGT	0.711000													5	13					0	0	0.000602	0	0
DOT1L	84444	broad.mit.edu	37	19	2220147	2220147	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:2220147C>T	ENST00000398665.3	+	23	2768	c.2732C>T	c.(2731-2733)tCg>tTg	p.S911L		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	911						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.S911L(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		CGTGACCCCTCGTCCACACTT	0.642000													4	25					0	0	0.000602	0	0
GPR158	57512	broad.mit.edu	37	10	25887045	25887045	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:25887045G>T	ENST00000376351.3	+	11	2849	c.2490G>T	c.(2488-2490)gaG>gaT	p.E830D	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	830						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E830D(1)		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						AAACGGAAGAGTCCAGTAGCC	0.463000													37	132					1.49673e-21	2.76987e-21	0.006230	1	0
AKAP9	10142	broad.mit.edu	37	7	91672051	91672051	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:91672051G>A	ENST00000359028.2	+	21	5389	c.5164G>A	c.(5164-5166)Gaa>Aaa	p.E1722K	AKAP9_ENST00000358100.2_Missense_Mutation_p.E1722K|AKAP9_ENST00000356239.3_Missense_Mutation_p.E1710K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1722					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.E1722K(1)|p.E1710K(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAGAAAACCTGAAGATGTGCC	0.318000			T	BRAF	papillary thyroid								16	169					0	0	0.007413	0	0
PDE2A	5138	broad.mit.edu	37	11	72290403	72290403	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:72290403T>A	ENST00000334456.5	-	27	2526	c.2281A>T	c.(2281-2283)Atg>Ttg	p.M761L	PDE2A_ENST00000540345.1_Missense_Mutation_p.M752L|PDE2A_ENST00000544570.1_Missense_Mutation_p.M754L|PDE2A_ENST00000418754.2_Missense_Mutation_p.M646L|PDE2A_ENST00000376450.3_Missense_Mutation_p.M505L|PDE2A_ENST00000444035.2_Missense_Mutation_p.M752L	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	761	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.M761L(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	ATGTCCCGCATCAGATCCAGC	0.597000													14	37					0	0	0.002450	0	0
CNGA2	1260	broad.mit.edu	37	X	150912786	150912786	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:150912786T>A	ENST00000329903.4	+	6	1844	c.1811T>A	c.(1810-1812)cTg>cAg	p.L604Q		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	604					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.L604Q(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CTAGGGCAGCTGGAGACCAAC	0.582000													29	60					0	0	0.006320	0	0
TNRC18	84629	broad.mit.edu	37	7	5410699	5410699	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:5410699C>A	ENST00000399537.4	-	11	3874	c.3526G>T	c.(3526-3528)Gag>Tag	p.E1176*	TNRC18_ENST00000430969.1_Nonsense_Mutation_p.E1176*			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1176	Pro-rich.						DNA binding	p.E1176*(2)|p.E231*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		AGCGGCGACTCCAGAGGCGGC	0.716000													4	40					0.00024832	0.000300665	0.000248	1	0
SLC8A1	6546	broad.mit.edu	37	2	40656124	40656124	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:40656124C>A	ENST00000406785.1	-	2	1486	c.1297G>T	c.(1297-1299)Ggt>Tgt	p.G433C	SLC8A1_ENST00000405269.1_Missense_Mutation_p.G433C|SLC8A1_ENST00000542024.1_Missense_Mutation_p.G433C|SLC8A1_ENST00000403092.1_Missense_Mutation_p.G433C|SLC8A1_ENST00000405901.3_Missense_Mutation_p.G433C|SLC8A1_ENST00000402441.1_Missense_Mutation_p.G433C|SLC8A1_ENST00000408028.2_Missense_Mutation_p.G433C|SLC8A1_ENST00000332839.4_Missense_Mutation_p.G433C|SLC8A1_ENST00000542756.1_Missense_Mutation_p.G433C|SLC8A1_ENST00000406391.2_Missense_Mutation_p.G433C			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	433	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.G433C(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AAATCACCACCTCTGCGGATA	0.433000													16	69					8.00594e-06	1.04234e-05	0.007413	1	0
CDC14A	8556	broad.mit.edu	37	1	100960421	100960421	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:100960421G>C	ENST00000336454.3	+	12	1540	c.1185G>C	c.(1183-1185)caG>caC	p.Q395H	CDC14A_ENST00000542213.1_Missense_Mutation_p.Q337H|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000361544.6_Missense_Mutation_p.Q395H|CDC14A_ENST00000544534.1_Missense_Mutation_p.Q395H	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	395					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.Q395_G396>H*(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		GTATAACCCAGGGAGACAAAC	0.368000													4	46					0	0	0.000248	0	0
HECW1	23072	broad.mit.edu	37	7	43548638	43548638	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:43548638G>T	ENST00000395891.1	+	24	4542	c.3937G>T	c.(3937-3939)Gga>Tga	p.G1313*	AC011738.4_ENST00000436105.1_RNA|HECW1_ENST00000453890.1_Nonsense_Mutation_p.G1279*	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1313	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.G1292*(1)|p.G1313*(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCCTTACTATGGACTCTTTGA	0.493000													34	133					4.3181e-19	7.83393e-19	0.002836	1	0
C16orf59	80178	broad.mit.edu	37	16	2511049	2511049	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:2511049C>A	ENST00000569496.1	+	4	488	c.429C>A	c.(427-429)cgC>cgA	p.R143R	C16orf59_ENST00000563531.1_Silent_p.R143R|C16orf59_ENST00000361837.4_Silent_p.R143R|C16orf59_ENST00000483320.1_5'UTR			Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	143								p.R143R(1)		lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				AGGGCCTCCGCCAGACCACGG	0.687000													9	54					2.27111e-07	3.14695e-07	0.001368	1	0
SNHG14	104472715	broad.mit.edu	37	15	25451253	25451253	+	RNA	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:25451253C>A	ENST00000424208.1	+	0	2384				SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA	NR_003305.1																						AGAGGAAGACCCCGTGGCTCT	0.642000													8	21					1.26484e-09	1.91573e-09	0.003080	1	0
SVEP1	79987	broad.mit.edu	37	9	113132270	113132270	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:113132270C>G	ENST00000401783.2	-	47	10963	c.10627G>C	c.(10627-10629)Ggt>Cgt	p.G3543R	SVEP1_ENST00000374469.1_Missense_Mutation_p.G3520R|SVEP1_ENST00000297826.5_Missense_Mutation_p.G1469R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3543	EGF-like 9.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.G3546R(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CATTTTCCACCATTTAAGCAG	0.378000													3	32					0	0	0.004672	0	0
GAD1	2571	broad.mit.edu	37	2	171715317	171715317	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:171715317G>C	ENST00000358196.3	+	16	2075	c.1525G>C	c.(1525-1527)Gag>Cag	p.E509Q		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	509					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.E509Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TCTGCAGCCTGAGCACACAAA	0.443000													16	46					0	0	0.006122	0	0
TALDO1	6888	broad.mit.edu	37	11	764307	764307	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:764307A>G	ENST00000528097.1	+	7	905	c.851A>G	c.(850-852)aAa>aGa	p.K284R	TALDO1_ENST00000319006.3_Silent_p.E285E	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	p.E285E(1)		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)		GTGACCTGGAAAAAATCCACC	0.582000													4	82					0	0	0.000248	0	0
NLRP3	114548	broad.mit.edu	37	1	247587916	247587916	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:247587916C>A	ENST00000366497.2	+	4	1951	c.1171C>A	c.(1171-1173)Caa>Aaa	p.Q391K	NLRP3_ENST00000336119.3_Missense_Mutation_p.Q391K|NLRP3_ENST00000391828.3_Missense_Mutation_p.Q391K|NLRP3_ENST00000391827.2_Missense_Mutation_p.Q391K|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.Q391K|NLRP3_ENST00000348069.2_Missense_Mutation_p.Q391K	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	391	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.Q391K(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGATGAGGCCCAAGCCAGGGC	0.537000													25	46					4.72057e-08	6.73788e-08	0.003954	1	0
CACNG6	59285	broad.mit.edu	37	19	54502988	54502988	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:54502988C>A	ENST00000252729.2	+	3	1097	c.507C>A	c.(505-507)ttC>ttA	p.F169L	CACNG6_ENST00000352529.1_Intron|CACNG6_ENST00000346968.2_Intron	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	169						voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.F169L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		GTGCAGAGTTCCTGCTCCGAG	0.582000													68	137					8.73484e-25	1.65712e-24	0.003610	1	0
IGKV2-24	28923	broad.mit.edu	37	2	89475967	89475967	+	RNA	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:89475967G>T	ENST00000484817.1	-	0	234																											AGGAGTCTTGGAGGCTGGCCT	0.522000													55	141					5.08636e-23	9.51901e-23	0.003610	1	0
OR14A16	284532	broad.mit.edu	37	1	247978156	247978156	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:247978156C>A	ENST00000357627.1	-	1	875	c.876G>T	c.(874-876)aaG>aaT	p.K292N		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K292N(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						CCTTTATGGCCTTGTTTCTCA	0.378000													17	53					3.62473e-10	5.60247e-10	0.001882	1	0
EPG5	57724	broad.mit.edu	37	18	43493755	43493755	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:43493755G>C	ENST00000282041.5	-	21	3766	c.3732C>G	c.(3730-3732)atC>atG	p.I1244M	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1244					autophagy			p.I1244M(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CCTCTTCAAAGATGGATTCCA	0.493000													13	89					0	0	0.001855	0	0
ANK2	287	broad.mit.edu	37	4	114257903	114257903	+	Silent	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:114257903T>C	ENST00000357077.4	+	31	3815	c.3762T>C	c.(3760-3762)gaT>gaC	p.D1254D	ANK2_ENST00000506722.1_Silent_p.D1245D|ANK2_ENST00000504887.1_3'UTR|ANK2_ENST00000394537.3_Silent_p.D1254D|ANK2_ENST00000264366.6_Silent_p.D1221D|ANK2_ENST00000509550.1_Silent_p.D430D	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1221					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.D1254D(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTGGGGGAGATGCACCAACCT	0.388000													5	95					0	0	0.003080	0	0
GRIN3B	116444	broad.mit.edu	37	19	1008897	1008897	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:1008897G>A	ENST00000234389.3	+	8	2692	c.2673G>A	c.(2671-2673)tcG>tcA	p.S891S		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	891					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	p.S891S(1)		breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CAGAGGGGTCGAAGGAGGAGA	0.706000													3	11					0	0	0.004672	0	0
BCO2	83875	broad.mit.edu	37	11	112084521	112084521	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:112084521G>T	ENST00000357685.5	+	9	1404	c.1269G>T	c.(1267-1269)gaG>gaT	p.E423D	BCO2_ENST00000361053.4_Missense_Mutation_p.E350D|BCO2_ENST00000532593.1_Missense_Mutation_p.E318D|BCO2_ENST00000526088.1_Missense_Mutation_p.E389D|BCO2_ENST00000393032.2_Missense_Mutation_p.E389D|BCO2_ENST00000531169.1_Missense_Mutation_p.E389D|BCO2_ENST00000438022.1_Missense_Mutation_p.E389D			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	423					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.E423D(1)		NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						ATGCCCCTGAGGGAGACAACC	0.433000													60	144					2.69953e-25	5.14492e-25	0.003610	1	0
MCHR2	84539	broad.mit.edu	37	6	100403903	100403903	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:100403903T>C	ENST00000281806.2	-	2	435	c.121A>G	c.(121-123)Att>Gtt	p.I41V	MCHR2_ENST00000369212.1_Missense_Mutation_p.I41V|MCHR2_ENST00000445970.1_Missense_Mutation_p.I41V	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	41						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I41V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		ATAATCCCAATCATGGAAGGG	0.393000													22	57					0	0	0.002299	0	0
MS4A14	84689	broad.mit.edu	37	11	60164178	60164178	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:60164178A>T	ENST00000300187.6	+	1	404	c.127A>T	c.(127-129)Aga>Tga	p.R43*	MS4A14_ENST00000395005.2_Nonsense_Mutation_p.R43*|MS4A14_ENST00000531783.1_Nonsense_Mutation_p.R43*|MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000531787.1_Intron	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	43						integral to membrane	receptor activity	p.R43*(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GGGAGAGCCAAGAGTCTTGGG	0.428000													8	39					0	0	0.000978	0	0
PAPPA2	60676	broad.mit.edu	37	1	176679225	176679225	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:176679225G>C	ENST00000367662.3	+	11	4728	c.3564G>C	c.(3562-3564)ttG>ttC	p.L1188F		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1188					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.L1188F(1)		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						AAGGATACTTGGATCAATGGG	0.453000													39	97					0	0	0.007835	0	0
P2RY10	27334	broad.mit.edu	37	X	78216452	78216452	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:78216452G>C	ENST00000171757.2	+	4	715	c.435G>C	c.(433-435)aaG>aaC	p.K145N	P2RY10_ENST00000475374.1_3'UTR|P2RY10_ENST00000544091.1_Missense_Mutation_p.K145N	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	145						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.K145N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GAGACTGGAAGCGTAGGTACG	0.488000													19	58					0	0	0.008871	0	0
GAD2	2572	broad.mit.edu	37	10	26518625	26518625	+	Silent	SNP	C	C	A	rs145045666		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:26518625C>A	ENST00000376261.3	+	7	1262	c.759C>A	c.(757-759)atC>atA	p.I253I	GAD2_ENST00000259271.3_Silent_p.I253I	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	253					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.I253I(2)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CCATGATGATCGCACGCTTTA	0.428000													11	53					1.08611e-07	1.52147e-07	0.000978	1	0
MKKS	8195	broad.mit.edu	37	20	10393358	10393358	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:10393358C>T	ENST00000347364.2	-	3	1567	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	269	Substrate-binding apical domain.				brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding	p.E269K(1)		kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						ACTGCATTTTCAAGAGAAACC	0.453000													7	53					0	0	0.001984	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763548	77763548	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:77763548C>A	ENST00000521891.2	+	10	4839	c.4391C>A	c.(4390-4392)cCc>cAc	p.P1464H	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1438H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1419H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1419H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1419						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1464H(1)		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)			GCCTCCTTGCCCGTGAATGGA	0.512000										HNSCC(33;0.089)			9	22					0.000274275	0.000330884	0.004482	1	0
KRTAP19-7	337974	broad.mit.edu	37	21	31933543	31933543	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr21:31933543G>A	ENST00000334849.2	-	1	90	c.66C>T	c.(64-66)ggC>ggT	p.G22G		NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	22						intermediate filament		p.G22G(1)		endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						TATAGCCATAGCCCAGGCCAC	0.557000													12	112					0	0	0.001855	0	0
RAB28	9364	broad.mit.edu	37	4	13370268	13370268	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:13370268C>A	ENST00000330852.5	-	7	794	c.580G>T	c.(580-582)Gtg>Ttg	p.V194L	RAB28_ENST00000338176.4_3'UTR|RAB28_ENST00000288723.4_3'UTR	NM_001017979.2	NP_001017979.1	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	194					small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity	p.V194L(1)		endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						TCTGCCTTCACCACCCTCTGT	0.368000													7	26					2.0095e-06	2.67503e-06	0.001984	1	0
ARHGAP28	79822	broad.mit.edu	37	18	6896572	6896572	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:6896572C>T	ENST00000419673.2	+	15	1717	c.1500C>T	c.(1498-1500)ctC>ctT	p.L500L	ARHGAP28_ENST00000531294.1_Silent_p.L495L|ARHGAP28_ENST00000314319.3_Silent_p.L500L|ARHGAP28_ENST00000400091.2_Silent_p.L659L|ARHGAP28_ENST00000383472.4_Silent_p.L659L|ARHGAP28_ENST00000532996.1_Silent_p.L482L|ARHGAP28_ENST00000418986.1_Silent_p.L500L|ARHGAP28_ENST00000262227.3_Silent_p.L607L	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	482					signal transduction	intracellular		p.L659L(1)|p.L500L(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CCATTCAACTCAACAATCAAA	0.443000													11	68					0	0	0.008291	0	0
KRTAP21-2	337978	broad.mit.edu	37	21	32119317	32119317	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr21:32119317A>C	ENST00000333892.2	-	1	234	c.204T>G	c.(202-204)tgT>tgG	p.C68W		NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	68						intermediate filament		p.C68_G69>WS(1)		lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						GTCGGTAGCCACAGCAGCTAG	0.498000													12	124					0	0	0.001368	0	0
ZNF662	389114	broad.mit.edu	37	3	42956151	42956151	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:42956151G>T	ENST00000541208.1	+	5	955	c.586G>T	c.(586-588)Gaa>Taa	p.E196*	ZNF662_ENST00000440367.2_Nonsense_Mutation_p.E196*|ZNF662_ENST00000328199.6_Nonsense_Mutation_p.E222*|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E222*(1)|p.E196*(1)		breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TATATGTGAGGAATGCGGCAA	0.373000													22	46					6.33239e-15	1.09156e-14	0.001523	1	0
DDX60L	91351	broad.mit.edu	37	4	169322029	169322029	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:169322029C>T	ENST00000511577.1	-	26	3686	c.3439G>A	c.(3439-3441)Gtc>Atc	p.V1147I	DDX60L_ENST00000260184.7_Missense_Mutation_p.V1147I|DDX60L_ENST00000505890.1_Missense_Mutation_p.V1147I			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1147							ATP binding|ATP-dependent helicase activity|RNA binding	p.V1147I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ATTGCAAAGACATAACTATGA	0.368000													9	57					0	0	0.004482	0	0
CDH12	1010	broad.mit.edu	37	5	21854810	21854810	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:21854810G>T	ENST00000382254.1	-	7	1702	c.616C>A	c.(616-618)Caa>Aaa	p.Q206K	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Intron|CDH12_ENST00000504376.2_Missense_Mutation_p.Q206K	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	206	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q206K(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AAATAAGGTTGTCCCTGAAGA	0.393000										HNSCC(59;0.17)			29	59					2.65835e-16	4.67959e-16	0.007291	1	0
RELN	5649	broad.mit.edu	37	7	103205894	103205894	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:103205894T>A	ENST00000424685.2	-	34	5200	c.5041A>T	c.(5041-5043)Agt>Tgt	p.S1681C	RELN_ENST00000343529.5_Missense_Mutation_p.S1681C|RELN_ENST00000428762.1_Missense_Mutation_p.S1681C			P78509	RELN_HUMAN	reelin	1681					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	p.S1681C(1)		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)		AGCTGTACACTGTGGGAGTTG	0.483000													10	27					0	0	0.006214	0	0
PIP	5304	broad.mit.edu	37	7	142829214	142829214	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:142829214G>A	ENST00000291009.3	+	1	45	c.5G>A	c.(4-6)cGc>cAc	p.R2H		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	2						extracellular region	actin binding	p.R2H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		TCCAGCATGCGCTTGCTCCAG	0.552000													11	486					0	0	0.001855	0	0
IGHV3-49	28423	broad.mit.edu	37	14	107012987	107012987	+	RNA	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:107012987T>A	ENST00000390625.2	-	0	387																											GCTGTTCATTTGCAGATAGGC	0.488000													76	125					0	0	0.003610	0	0
CDCA4	55038	broad.mit.edu	37	14	105477746	105477746	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:105477746G>C	ENST00000336219.3	-	2	676	c.521C>G	c.(520-522)cCc>cGc	p.P174R	CDCA4_ENST00000392590.3_Missense_Mutation_p.P174R	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	174						nucleus		p.P174R(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		CATGCAGCTGGGGTTTTTAGT	0.562000													4	65					0	0	0.000248	0	0
IQCJ	654502	broad.mit.edu	37	3	158983078	158983078	+	Silent	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:158983078T>A	ENST00000482126.1	+	4	390	c.285T>A	c.(283-285)ccT>ccA	p.P95P	IQCJ_ENST00000451172.1_Silent_p.P122P|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ-SCHIP1_ENST00000485419.1_Intron	NM_001197100.1	NP_001184029.1			IQ motif containing J									p.P122P(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			ACAAGTTGCCTGGTGGAAGGA	0.493000													38	173					0	0	0.006999	0	0
PCK1	5105	broad.mit.edu	37	20	56138753	56138753	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:56138753G>A	ENST00000319441.4	+	6	1095	c.931G>A	c.(931-933)Gac>Aac	p.D311N	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Missense_Mutation_p.D179N	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	311					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.D311N(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CGTCGGGGATGACATTGCCTG	0.557000													33	79					0	0	0.002445	0	0
FLNC	2318	broad.mit.edu	37	7	128493676	128493676	+	Splice_Site	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:128493676G>T	ENST00000325888.8	+	38	6622		c.e38+1		RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Splice_Site	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma						cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.?(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CACGTGCCTGGTAAGGCTCTG	0.607000													19	45					2.39187e-15	4.14458e-15	0.008871	1	0
SLC25A14	9016	broad.mit.edu	37	X	129492640	129492640	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:129492640G>A	ENST00000543953.1	+	6	469	c.420G>A	c.(418-420)ttG>ttA	p.L140L	SLC25A14_ENST00000545805.1_Silent_p.L175L|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000361980.5_Silent_p.L172L|SLC25A14_ENST00000218197.5_Silent_p.L175L|SLC25A14_ENST00000339231.3_Silent_p.L172L			O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	175					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding	p.L175L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						AAGGAAGCTTGTTCCAAGGGA	0.383000													24	39					0	0	0.008361	0	0
PAK7	57144	broad.mit.edu	37	20	9561532	9561532	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:9561532C>A	ENST00000378429.3	-	5	796	c.250G>T	c.(250-252)Ggc>Tgc	p.G84C	PAK7_ENST00000378423.1_Missense_Mutation_p.G84C|PAK7_ENST00000353224.5_Missense_Mutation_p.G84C	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	84	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.G84C(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TCTAGCAGGCCGTTGATGGAG	0.463000													45	169					3.77016e-25	7.17714e-25	0.003214	1	0
GPR63	81491	broad.mit.edu	37	6	97247514	97247514	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:97247514G>T	ENST00000229955.3	-	2	439	c.94C>A	c.(94-96)Cct>Act	p.P32T	GPR63_ENST00000417980.1_Missense_Mutation_p.P32T	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	32						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.P32T(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AATGGTGGAGGGAGTGTAATA	0.458000													10	90					9.70103e-10	1.48148e-09	0.008291	1	0
GPC3	2719	broad.mit.edu	37	X	133087218	133087218	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:133087218G>T	ENST00000370818.3	-	2	641	c.196C>A	c.(196-198)Ctc>Atc	p.L66I	GPC3_ENST00000543339.1_Intron|GPC3_ENST00000394299.2_Missense_Mutation_p.L66I	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	66						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	p.L66I(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CCCTTAGGGAGACATACTTGC	0.468000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				57	66					1.67886e-27	3.24059e-27	0.003610	1	0
PPAP2C	8612	broad.mit.edu	37	19	288086	288086	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:288086G>A	ENST00000269812.3	-	2	187	c.138C>T	c.(136-138)ccC>ccT	p.P46P	PPAP2C_ENST00000434325.2_5'UTR|PPAP2C_ENST00000327790.3_Silent_p.P67P	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	46					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity	p.P67P(1)|p.P46P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CTGGACGGTAGGGGTACCGGA	0.612000													7	97					0	0	0.006214	0	0
GRM7	2917	broad.mit.edu	37	3	7621006	7621006	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:7621006A>G	ENST00000486284.1	+	8	2687	c.2413A>G	c.(2413-2415)Att>Gtt	p.I805V	GRM7_ENST00000357716.4_Missense_Mutation_p.I805V|GRM7_ENST00000402647.2_Missense_Mutation_p.I805V|GRM7_ENST00000403881.1_Missense_Mutation_p.I805V|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.I805V	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	805					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	p.I805V(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GCTTGCCTTCATTCCAATTTT	0.383000													4	39					0	0	0.000602	0	0
EPDR1	54749	broad.mit.edu	37	7	37960403	37960403	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:37960403G>A	ENST00000559325.1	+	1	241	c.222G>A	c.(220-222)ccG>ccA	p.P74P	EPDR1_ENST00000423717.1_5'UTR|EPDR1_ENST00000199448.4_5'UTR|EPDR1_ENST00000476620.1_Intron			Q9UM22	EPDR1_HUMAN	ependymin related 1	0					cell-matrix adhesion	extracellular region	calcium ion binding	p.P74P(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AGAGGCCACCGAAGGGACAGG	0.672000													28	75					0	0	0.006320	0	0
EPHA3	2042	broad.mit.edu	37	3	89390124	89390124	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:89390124G>T	ENST00000336596.2	+	4	1098	c.873G>T	c.(871-873)ccG>ccT	p.P291P	EPHA3_ENST00000452448.2_Silent_p.P291P|EPHA3_ENST00000494014.1_Silent_p.P291P	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	291	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding	p.P291P(4)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CTAAGTGCCCGCCTCACAGTT	0.438000										TSP Lung(6;0.00050)			10	145					6.40141e-05	7.95385e-05	0.000978	1	0
GPR83	10888	broad.mit.edu	37	11	94134282	94134282	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:94134282C>A	ENST00000243673.2	-	1	303	c.132G>T	c.(130-132)tgG>tgT	p.W44C	GPR83_ENST00000539203.2_Missense_Mutation_p.W44C	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	44						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.W44C(1)		NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGTAGTTGTTCCAAGAGAAGA	0.652000													11	59					0.000978159	0.00115569	0.000978	1	0
ZFP41	286128	broad.mit.edu	37	8	144332450	144332450	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:144332450G>T	ENST00000330701.4	+	2	806	c.437G>T	c.(436-438)gGg>gTg	p.G146V	ZFP41_ENST00000520584.1_Missense_Mutation_p.G146V|ZFP41_ENST00000522452.1_Missense_Mutation_p.G146V	NM_173832.3	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	146					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G146V(1)		breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			TTCAAATGCGGGGAGTGCGGG	0.582000													35	82					6.53348e-20	1.19182e-19	0.003755	1	0
FAM49A	81553	broad.mit.edu	37	2	16745340	16745340	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:16745340A>G	ENST00000381323.3	-	5	435	c.215T>C	c.(214-216)aTt>aCt	p.I72T	FAM49A_ENST00000355549.2_Missense_Mutation_p.I72T|FAM49A_ENST00000406434.1_Missense_Mutation_p.I72T	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	72						intracellular		p.I72T(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TTGAAGCTGAATGTCATTGGG	0.378000													5	45					0	0	0.000602	0	0
PCDH17	27253	broad.mit.edu	37	13	58240910	58240910	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:58240910G>A	ENST00000377918.3	+	3	2766	c.2740G>A	c.(2740-2742)Gtt>Att	p.V914I		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	914					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.V914I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGACATGTCTGTTAGGGAGGC	0.483000													9	41					0	0	0.006214	0	0
BRINP2	57795	broad.mit.edu	37	1	177250431	177250431	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:177250431C>A	ENST00000361539.4	+	8	2431	c.2119C>A	c.(2119-2121)Cca>Aca	p.P707T	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		707						extracellular region		p.P707R(1)		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						GTTGGACTACCCATATACTCA	0.502000													55	159					1.08241e-25	2.07004e-25	0.003610	1	0
STX4	6810	broad.mit.edu	37	16	31046343	31046343	+	Silent	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:31046343A>C	ENST00000394998.1	+	6	697	c.354A>C	c.(352-354)acA>acC	p.T118T	STX4_ENST00000313843.3_Silent_p.T120T|STX4_ENST00000493902.1_3'UTR	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN	syntaxin 4	120					intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity	p.T120T(1)		NS(2)|breast(1)|large_intestine(3)|lung(3)	9						CCGTCAACACAAGAATGAGAA	0.443000													8	98					0	0	0.003080	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118006189	118006189	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:118006189C>G	ENST00000310754.4	-	1	547	c.361G>C	c.(361-363)Gag>Cag	p.E121Q		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	121	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		p.E121Q(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TGACCAGACTCGTTAAACTTG	0.368000													8	61					0	0	0.004482	0	0
EGFR	1956	broad.mit.edu	37	7	55224350	55224350	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:55224350G>T	ENST00000275493.2	+	9	1308	c.1131G>T	c.(1129-1131)agG>agT	p.R377S	EGFR_ENST00000442591.1_Missense_Mutation_p.R377S|EGFR_ENST00000342916.3_Missense_Mutation_p.R377S|EGFR_ENST00000344576.2_Missense_Mutation_p.R377S|EGFR_ENST00000420316.2_Missense_Mutation_p.R377S|EGFR_ENST00000454757.2_Missense_Mutation_p.R324S|EGFR_ENST00000455089.1_Missense_Mutation_p.R332S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	377					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R377S(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGGCATTTAGGGGGTGAGTCA	0.398000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			33	70					1.26612e-14	2.16899e-14	0.003271	1	0
C8orf37	157657	broad.mit.edu	37	8	96281413	96281413	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:96281413G>A	ENST00000286688.5	-	1	16	c.5C>T	c.(4-6)gCg>gTg	p.A2V	KB-1047C11.2_ENST00000521905.1_lincRNA	NM_177965.3	NP_808880.1	Q96NL8	CH037_HUMAN	chromosome 8 open reading frame 37	2								p.A2V(1)		kidney(1)|large_intestine(1)|lung(5)	7	Breast(36;3.41e-05)					CAGGTCCTCCGCCATCTTGAA	0.612000											OREG0018873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	140					0	0	0.003163	0	0
AMER3	205147	broad.mit.edu	37	2	131521368	131521368	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:131521368A>T	ENST00000423981.1	+	2	1833	c.1723A>T	c.(1723-1725)Aca>Tca	p.T575S	AMER3_ENST00000321420.4_Missense_Mutation_p.T575S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3									p.T575S(1)									CCCGGGCACCACAGGCCTGCT	0.672000													19	28					0	0	0.006122	0	0
SVOP	55530	broad.mit.edu	37	12	109316512	109316512	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:109316512C>G	ENST00000299134.5	-	10	913	c.914G>C	c.(913-915)aGg>aCg	p.R305T		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						TGTAATCCTCCTCACTCAGGT	0.547000													4	4					0	0	0.000602	0	0
ABHD17A	81926	broad.mit.edu	37	19	1881444	1881444	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:1881444G>A	ENST00000292577.7	-	2	555	c.122C>T	c.(121-123)cCc>cTc	p.P41L	ABHD17A_ENST00000250974.9_Missense_Mutation_p.P41L|ABHD17A_ENST00000590661.1_Missense_Mutation_p.P41L	NM_001130111.1	NP_001123583.1			abhydrolase domain containing 17A									p.P41L(1)									CCCCGGCTCGGGCTCAGGCAC	0.756000													7	50					0	0	0.006214	0	0
ARPP21	10777	broad.mit.edu	37	3	35724358	35724358	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:35724358A>C	ENST00000187397.4	+	4	604	c.148A>C	c.(148-150)Aat>Cat	p.N50H	ARPP21_ENST00000428373.1_Missense_Mutation_p.N50H|ARPP21_ENST00000396482.2_Missense_Mutation_p.N50H|ARPP21_ENST00000436702.1_Missense_Mutation_p.N50H|ARPP21_ENST00000337271.5_Missense_Mutation_p.N50H|ARPP21_ENST00000417925.1_Missense_Mutation_p.N50H|ARPP21_ENST00000432682.1_Missense_Mutation_p.N50H|ARPP21_ENST00000444190.1_Missense_Mutation_p.N50H|ARPP21_ENST00000441454.1_Missense_Mutation_p.N50H|ARPP21_ENST00000412048.1_Missense_Mutation_p.N50H|ARPP21_ENST00000474696.1_Missense_Mutation_p.N50H|ARPP21_ENST00000458225.1_Missense_Mutation_p.N50H|ARPP21_ENST00000427542.1_Missense_Mutation_p.N50H|ARPP21_ENST00000438071.1_Missense_Mutation_p.N50H|ARPP21_ENST00000396481.2_Missense_Mutation_p.N50H	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	50						cytoplasm	nucleic acid binding	p.N50H(1)		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						GGAGGCTCAGAATCAAGAAAG	0.338000													23	59					0	0	0.003330	0	0
LAMB3	3914	broad.mit.edu	37	1	209799050	209799050	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:209799050C>G	ENST00000391911.1	-	13	2308	c.1919G>C	c.(1918-1920)aGc>aCc	p.S640T	LAMB3_ENST00000356082.4_Missense_Mutation_p.S640T|LAMB3_ENST00000367030.3_Missense_Mutation_p.S640T	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	640	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	p.S640T(1)		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)		GACTGCGGGGCTGCTGAGAAC	0.592000													56	87					0	0	0.003610	0	0
NTRK1	4914	broad.mit.edu	37	1	156846197	156846197	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:156846197G>A	ENST00000368196.3	+	13	1740	c.1620G>A	c.(1618-1620)ctG>ctA	p.L540L	NTRK1_ENST00000524377.1_Silent_p.L546L|NTRK1_ENST00000392302.2_Silent_p.L510L|NTRK1_ENST00000358660.3_Silent_p.L543L	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	546	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.L546L(1)|p.L510L(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	TCCAGGCACTGAAGGAGGCGT	0.652000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			12	30					0	0	0.000978	0	0
FAT1	2195	broad.mit.edu	37	4	187527368	187527368	+	Splice_Site	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:187527368C>G	ENST00000441802.2	-	17	10416		c.e17-1			NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1						actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.?(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AACCTGAAATCTTTTCAGGCA	0.507000										HNSCC(5;0.00058)			5	40					0	0	0.000602	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153274952	153274952	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:153274952G>T	ENST00000290722.1	-	5	713	c.661C>A	c.(661-663)Cag>Aag	p.Q221K		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	221					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.Q221K(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACGACAGTCTGGCAGTCTGTG	0.478000													38	244					5.71845e-15	9.8676e-15	0.005524	1	0
THBS3	7059	broad.mit.edu	37	1	155165670	155165670	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:155165670C>G	ENST00000368378.3	-	23	2853	c.2833G>C	c.(2833-2835)Gag>Cag	p.E945Q	THBS3_ENST00000541990.1_Missense_Mutation_p.E474Q|THBS3_ENST00000541576.1_Missense_Mutation_p.E342Q|THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000457183.2_Missense_Mutation_p.E825Q	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	945					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	p.E945Q(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		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)			CGGAATGGCTCAAAGTCCTCA	0.522000													12	206					0	0	0.002450	0	0
CADPS	8618	broad.mit.edu	37	3	62478012	62478012	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:62478012T>A	ENST00000383710.4	-	20	3186	c.2837A>T	c.(2836-2838)gAc>gTc	p.D946V	CADPS_ENST00000283269.9_Missense_Mutation_p.D956V|CADPS_ENST00000357948.3_Missense_Mutation_p.D916V	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	946	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.D946V(1)|p.D956V(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TGGAAAACTGTCCCATGTGTC	0.448000													102	257					0	0	0.003610	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965846	88965846	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:88965846G>T	ENST00000333190.4	+	4	4159	c.3550G>T	c.(3550-3552)Gca>Tca	p.A1184S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1184						intracellular	zinc ion binding	p.A1184S(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTTGCCTGCTGCAGGGCCTAC	0.488000										HNSCC(36;0.09)			23	78					5.26018e-13	8.66259e-13	0.001882	1	0
CACNB2	783	broad.mit.edu	37	10	18439905	18439905	+	Splice_Site	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:18439905G>T	ENST00000282343.8	+	2	351		c.e2+1		CACNB2_ENST00000467034.1_Splice_Site|CACNB2_ENST00000377331.2_Splice_Site|CACNB2_ENST00000377328.1_Splice_Site|CACNB2_ENST00000324631.7_Splice_Site|CACNB2_ENST00000352115.6_Splice_Site	NM_001167945.1|NM_201571.3	NP_001161417.1|NP_963865.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit						axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.?(1)		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)	TGTTCGCCAGGTAAGAGTTTT	0.328000													32	109					1.62565e-12	2.64307e-12	0.002445	1	0
SRCAP	10847	broad.mit.edu	37	16	30748500	30748500	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:30748500G>T	ENST00000262518.4	+	34	7524	c.7139G>T	c.(7138-7140)cGg>cTg	p.R2380L	SRCAP_ENST00000395059.2_Missense_Mutation_p.R2318L|SRCAP_ENST00000344771.4_Missense_Mutation_p.R2222L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2380					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.R2380L(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)			GGCACCCACCGGCGCAGTAAA	0.647000													5	21					1.23904e-05	1.58704e-05	0.000602	1	0
NAGLU	4669	broad.mit.edu	37	17	40695601	40695601	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:40695601A>G	ENST00000225927.2	+	6	1678	c.1577A>G	c.(1576-1578)aAt>aGt	p.N526S	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	526						lysosome	alpha-N-acetylglucosaminidase activity	p.N526S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CTACAGATGAATACCAGCATC	0.637000													7	26					0	0	0.001984	0	0
KMT2C	58508	broad.mit.edu	37	7	151932901	151932901	+	Splice_Site	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:151932901C>A	ENST00000355193.2	-	16	2988		c.e16+1		KMT2C_ENST00000262189.6_Splice_Site					lysine (K)-specific methyltransferase 2C																		GCAAGCCTCACCCCAGGTAAT	0.443000													12	114					0.000308642	0.000371534	0.003163	1	0
DMP1	1758	broad.mit.edu	37	4	88583892	88583892	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:88583892G>T	ENST00000339673.6	+	6	1061	c.962G>T	c.(961-963)aGc>aTc	p.S321I	RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.S305I|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	321					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	p.S321I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		CAAGAAGACAGCAAGGAGAAT	0.517000													7	64					8.12818e-05	0.000100244	0.001984	1	0
CLEC3A	10143	broad.mit.edu	37	16	78064691	78064691	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:78064691T>C	ENST00000299642.4	+	3	659	c.574T>C	c.(574-576)Tgt>Cgt	p.C192R	RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000575655.1_Missense_Mutation_p.C183R|CLEC3A_ENST00000565808.1_3'UTR	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	183	C-type lectin.				skeletal system development	extracellular region	sugar binding	p.C183R(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						TGATGAGGCCTGTCGCAGCAG	0.498000													11	77					0	0	0.001855	0	0
KIF5A	3798	broad.mit.edu	37	12	57970090	57970090	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:57970090C>A	ENST00000455537.2	+	19	2401	c.2127C>A	c.(2125-2127)gcC>gcA	p.A709A	KIF5A_ENST00000286452.5_Silent_p.A620A	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	709					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	p.A709A(1)		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						ACCGGGAGGCCCATCACCGGC	0.607000													31	55					6.04164e-23	1.12941e-22	0.002096	1	0
HHLA2	11148	broad.mit.edu	37	3	108095392	108095392	+	Silent	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:108095392C>G	ENST00000357759.5	+	9	1626	c.1212C>G	c.(1210-1212)ggC>ggG	p.G404G	HHLA2_ENST00000489514.2_Silent_p.G404G|HHLA2_ENST00000467562.1_Silent_p.G340G|HHLA2_ENST00000491820.1_Silent_p.G387G|HHLA2_ENST00000467761.1_Silent_p.G404G	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	404						integral to membrane		p.G404G(2)		endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						CCGATAATGGCGAAGAAAATG	0.363000													10	33					0	0	0.006214	0	0
RAET1E	135250	broad.mit.edu	37	6	150210584	150210584	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:150210584G>C	ENST00000532335.1	-	4	868	c.522C>G	c.(520-522)gaC>gaG	p.D174E	RAET1E_ENST00000367363.3_Missense_Mutation_p.D138E|RAET1E_ENST00000357183.4_Missense_Mutation_p.D174E|RP11-244K5.1_ENST00000605899.1_RNA|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E_ENST00000529948.1_Missense_Mutation_p.D174E	NM_001243328.1	NP_001230257.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	174	MHC class I alpha-2 like.				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding	p.D174E(1)		cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CCAGCCCTCTGTCTTTCTTCC	0.483000													9	117					0	0	0.006214	0	0
NCAM2	4685	broad.mit.edu	37	21	22881254	22881254	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr21:22881254C>T	ENST00000400546.1	+	16	2409	c.2160C>T	c.(2158-2160)gaC>gaT	p.D720D	NCAM2_ENST00000284894.7_Silent_p.D578D	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	720					neuron cell-cell adhesion	integral to membrane|plasma membrane		p.D720D(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TGGTAACAGACGTCAGCTGCT	0.443000													23	60					0	0	0.002780	0	0
DLL1	28514	broad.mit.edu	37	6	170592564	170592564	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:170592564G>A	ENST00000366756.3	-	9	2136	c.1803C>T	c.(1801-1803)gaC>gaT	p.D601D		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	601					cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	p.D601D(1)		NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TGACTGAGATGTCCTTCTCAC	0.637000													11	110					0	0	0.002450	0	0
DYNLRB2	83657	broad.mit.edu	37	16	80583453	80583453	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:80583453T>C	ENST00000305904.6	+	3	272	c.152T>C	c.(151-153)aTg>aCg	p.M51T	RP11-109P11.1_ENST00000568275.1_RNA|DYNLRB2_ENST00000570222.1_3'UTR|DYNLRB2_ENST00000568035.1_Intron|RP11-525K10.3_ENST00000568776.1_RNA|DYNLRB2_ENST00000562982.1_Missense_Mutation_p.M80T	NM_130897.1	NP_570967.1	Q8TF09	DLRB2_HUMAN	dynein, light chain, roadblock-type 2	51					microtubule-based movement|transport	cytoplasmic dynein complex|microtubule	microtubule motor activity	p.M51T(1)		large_intestine(1)|lung(4)|prostate(1)	6						CACCTGACAATGAAAGCCAAA	0.378000													4	44					0	0	0.000602	0	0
POFUT2	23275	broad.mit.edu	37	21	46689913	46689913	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr21:46689913C>A	ENST00000331343.7	-	7	879	c.853G>T	c.(853-855)Ggg>Tgg	p.G285W	POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000349485.5_Missense_Mutation_p.G285W	NM_015227.4	NP_056042.1	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	285					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity	p.G285W(2)|p.G285R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		TAGGGGCCCCCTAGCGCGGAG	0.602000													8	48					0.00448238	0.00518158	0.004482	1	0
PSG8	440533	broad.mit.edu	37	19	43268342	43268342	+	Silent	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:43268342A>C	ENST00000404209.4	-	2	252	c.156T>G	c.(154-156)ctT>ctG	p.L52L	PSG8_ENST00000401467.2_Silent_p.L52L|PSG8_ENST00000306511.4_Silent_p.L52L|PSG8_ENST00000406636.3_Intron	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	52	Ig-like V-type.					extracellular region		p.L52L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGACAAGTAGAAGAACATCCT	0.463000													25	342					0	0	0.003330	0	0
PCLO	27445	broad.mit.edu	37	7	82585749	82585749	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:82585749C>T	ENST00000423517.2	-	5	4857	c.4520G>A	c.(4519-4521)aGa>aAa	p.R1507K	PCLO_ENST00000333891.8_Missense_Mutation_p.R1507K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1438					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R1507K(2)|p.R1438K(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATAAGGCTCTCTTCTAGTAGT	0.383000													6	101					0	0	0.003080	0	0
IL7R	3575	broad.mit.edu	37	5	35876290	35876290	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:35876290T>A	ENST00000303115.3	+	8	1211	c.1082T>A	c.(1081-1083)tTt>tAt	p.F361Y	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	361					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.F361Y(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CCAGAAAGCTTTGGAAGAGAT	0.532000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						16	66					0	0	0.004007	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85626515	85626515	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:85626515G>A	ENST00000393217.2	+	26	5058	c.4997G>A	c.(4996-4998)gGt>gAt	p.G1666D	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1666								p.G1666D(1)		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)		GTACTTAATGGTGGAAGAGTT	0.318000													7	45					0	0	0.004482	0	0
TRPM6	140803	broad.mit.edu	37	9	77442833	77442833	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:77442833G>T	ENST00000451710.3	-	7	939	c.702C>A	c.(700-702)ccC>ccA	p.P234P	TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000359047.2_Silent_p.P234P|TRPM6_ENST00000360774.1_Silent_p.P234P|TRPM6_ENST00000376872.3_Silent_p.P234P|TRPM6_ENST00000376864.4_Silent_p.P234P|TRPM6_ENST00000376871.3_Silent_p.P234P|TRPM6_ENST00000449912.2_Silent_p.P229P|TRPM6_ENST00000361255.3_Silent_p.P229P			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	234					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.P234P(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GCTTGCTGAGGGGGTTATCCA	0.532000													10	116					1.58986e-06	2.1318e-06	0.008291	1	0
AMELX	265	broad.mit.edu	37	X	11316996	11316996	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:11316996T>A	ENST00000380712.3	+	6	583	c.515T>A	c.(514-516)cTg>cAg	p.L172Q	ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000413512.3_Intron|AMELX_ENST00000380714.3_Missense_Mutation_p.L158Q|ARHGAP6_ENST00000380718.1_Intron|AMELX_ENST00000348912.4_Missense_Mutation_p.L142Q	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	158					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel	p.L172Q(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						CAGCCACCTCTGCCTCCGATG	0.642000													9	3					0	0	0.004482	0	0
TEX15	56154	broad.mit.edu	37	8	30705979	30705979	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:30705979G>T	ENST00000256246.2	-	1	629	c.555C>A	c.(553-555)tcC>tcA	p.S185S		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	185								p.S185S(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AAGCATTACCGGACTCCTGTT	0.413000													4	55					2.56e-06	3.39425e-06	0.000248	1	0
ZFAT	57623	broad.mit.edu	37	8	135524846	135524846	+	Splice_Site	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:135524846T>C	ENST00000520727.1	-	15	3498		c.e15-2		ZFAT_ENST00000377838.3_Splice_Site|ZFAT_ENST00000517307.1_Splice_Site|ZFAT_ENST00000429442.2_Splice_Site|ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000520214.1_Splice_Site|ZFAT_ENST00000523399.1_Splice_Site	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	p.?(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGTTGCTGTCTAAATAAAAAC	0.468000													7	135					0	0	0.001984	0	0
SEL1L3	23231	broad.mit.edu	37	4	25780789	25780789	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:25780789C>A	ENST00000399878.3	-	16	2616	c.2494G>T	c.(2494-2496)Ggt>Tgt	p.G832C	SEL1L3_ENST00000502949.1_Missense_Mutation_p.G679C|SEL1L3_ENST00000264868.5_Missense_Mutation_p.G797C	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	832						integral to membrane	binding	p.G679C(1)|p.G832C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ATGTGTCCACCTTGCGCAGCC	0.473000													14	95					1.3612e-06	1.83409e-06	0.003163	1	0
FAM83H	286077	broad.mit.edu	37	8	144810181	144810181	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:144810181C>G	ENST00000388913.3	-	5	1575	c.1450G>C	c.(1450-1452)Gcg>Ccg	p.A484P		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	484					biomineral tissue development			p.A484P(1)		central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	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;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCCGGGTCCGCGAAACCCGCG	0.731000													10	15					0	0	0.008291	0	0
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Splice_Site	SNP	C	C	T	rs139351610	by1000genomes	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:15441469C>T	ENST00000584811.1	-	7	1815		c.e7-2		TVP23C_ENST00000428082.2_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000519970.1_Intron					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TCCAGTGTTCCGCAAAAGACA	0.393000													7	85					0	0	0.001984	0	0
C16orf78	123970	broad.mit.edu	37	16	49407973	49407973	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:49407973G>T	ENST00000299191.3	+	1	240	c.123G>T	c.(121-123)agG>agT	p.R41S		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	41								p.R41S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						TGGAGCGGAGGCAGGGGAAGA	0.502000													15	82					4.14922e-12	6.69359e-12	0.004007	1	0
ABCC9	10060	broad.mit.edu	37	12	22012543	22012543	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:22012543G>A	ENST00000261200.4	-	20	2481	c.2482C>T	c.(2482-2484)Caa>Taa	p.Q828*	ABCC9_ENST00000261201.4_Nonsense_Mutation_p.Q828*|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Nonsense_Mutation_p.Q792*	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	828	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.Q828*(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTGGTGTTTTGATACAGCGCT	0.408000													26	286					0	0	0.001786	0	0
ATAD3C	219293	broad.mit.edu	37	1	1387814	1387814	+	Splice_Site	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:1387814G>T	ENST00000378785.2	+	3	1217	c.222_splice	c.e3+1	p.T74_splice		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	74							ATP binding|nucleoside-triphosphatase activity	p.T74T(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGACAGCCACGGTAAACATAC	0.602000													21	63					3.62473e-10	5.60247e-10	0.001882	1	0
ATP2C1	27032	broad.mit.edu	37	3	130678149	130678149	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:130678149G>T	ENST00000510168.1	+	12	1413	c.863G>T	c.(862-864)gGa>gTa	p.G288V	ATP2C1_ENST00000393221.4_Missense_Mutation_p.G322V|ATP2C1_ENST00000504948.1_Missense_Mutation_p.G272V|ATP2C1_ENST00000508532.1_Missense_Mutation_p.G288V|ATP2C1_ENST00000504381.1_Missense_Mutation_p.G233V|ATP2C1_ENST00000507488.2_Missense_Mutation_p.G272V|ATP2C1_ENST00000359644.3_Missense_Mutation_p.G288V|ATP2C1_ENST00000328560.8_Missense_Mutation_p.G288V|ATP2C1_ENST00000422190.2_Missense_Mutation_p.G288V|ATP2C1_ENST00000428331.2_Missense_Mutation_p.G288V|ATP2C1_ENST00000513801.1_Missense_Mutation_p.G272V|ATP2C1_ENST00000533801.2_Missense_Mutation_p.G283V|ATP2C1_ENST00000505330.1_Missense_Mutation_p.G272V			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	288					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	p.G288V(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TGGTTACTGGGAAAAGATATC	0.333000									Hailey-Hailey disease				9	34					0.000978159	0.00115569	0.000978	1	0
OR5F1	338674	broad.mit.edu	37	11	55761205	55761205	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:55761205C>A	ENST00000278409.1	-	1	896	c.897G>T	c.(895-897)aaG>aaT	p.K299N		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K299N(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TCGCTAAAGCCTTCTTTACTT	0.398000													20	61					8.10497e-08	1.14895e-07	0.001523	1	0
BID	637	broad.mit.edu	37	22	18226769	18226769	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:18226769C>T	ENST00000317361.7	-	3	487	c.161G>A	c.(160-162)gGt>gAt	p.G54D	BID_ENST00000551952.1_Missense_Mutation_p.G8D|BID_ENST00000399774.3_Missense_Mutation_p.G8D|BID_ENST00000399767.1_5'UTR|BID_ENST00000342111.5_Missense_Mutation_p.G8D|BID_ENST00000473439.1_5'UTR|BID_ENST00000399765.1_Intron	NM_197966.2	NP_932070.1	P55957	BID_HUMAN	BH3 interacting domain death agonist	8					activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria	cytosol|membrane fraction|mitochondrial outer membrane	death receptor binding	p.G54D(1)		large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		GAGGCTGGAACCGTTGTTGAC	0.587000													11	109					0	0	0.001368	0	0
ANKRD35	148741	broad.mit.edu	37	1	145558896	145558896	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:145558896T>A	ENST00000355594.4	+	7	602	c.515T>A	c.(514-516)cTg>cAg	p.L172Q	ANKRD35_ENST00000544626.1_3'UTR	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	172								p.L172Q(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGCTCACAGCTGCTGCAGCGA	0.547000													28	139					0	0	0.002096	0	0
FBLN1	2192	broad.mit.edu	37	22	45996263	45996263	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:45996263G>T	ENST00000348697.2	+	20	2196	c.2049G>T	c.(2047-2049)ggG>ggT	p.G683G	FBLN1_ENST00000327858.6_Silent_p.G683G			P23142	FBLN1_HUMAN	fibulin 1	683					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	p.G683G(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ATGTGGTCGGGGGCGTGGTCT	0.612000													15	323					6.31663e-08	8.98509e-08	0.003163	1	0
ICA1	3382	broad.mit.edu	37	7	8183563	8183563	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:8183563C>T	ENST00000402384.3	-	9	1110	c.844G>A	c.(844-846)Gag>Aag	p.E282K	ICA1_ENST00000422063.2_Missense_Mutation_p.E282K|ICA1_ENST00000265577.7_Missense_Mutation_p.E281K|ICA1_ENST00000401396.1_Missense_Mutation_p.E270K|ICA1_ENST00000396675.3_Missense_Mutation_p.E282K|ICA1_ENST00000406470.2_Missense_Mutation_p.E282K			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	282					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		p.E282K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TTCTTCTTCTCTTCTTTCTCA	0.403000													18	40					0	0	0.001523	0	0
SVILP1	645954	broad.mit.edu	37	10	30984967	30984967	+	RNA	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:30984967G>T	ENST00000435645.1	+	0	255																											TAACAACAGCGCCGTGCCCTT	0.537000													8	17					1.12685e-05	1.45231e-05	0.004482	1	0
PPP1R15B	84919	broad.mit.edu	37	1	204379011	204379011	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:204379011G>A	ENST00000367188.4	-	1	1908	c.1529C>T	c.(1528-1530)tCa>tTa	p.S510L	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	510					regulation of translation			p.S510L(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			ATCCTTCTCTGAATCAGAAGG	0.468000													9	91					0	0	0.006214	0	0
BARHL2	343472	broad.mit.edu	37	1	91178042	91178042	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:91178042C>A	ENST00000370445.4	-	3	1032	c.991G>T	c.(991-993)Gcg>Tcg	p.A331S		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	331						nucleus	sequence-specific DNA binding	p.A331S(1)		cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		GCAGCCGCCGCCGCCGTAGTG	0.652000													6	20					3.59834e-05	4.50131e-05	0.001168	1	0
ZEB2	9839	broad.mit.edu	37	2	145156855	145156855	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:145156855G>T	ENST00000558170.2	-	8	3083	c.1899C>A	c.(1897-1899)gcC>gcA	p.A633A	ZEB2_ENST00000303660.4_Silent_p.A633A|ZEB2_ENST00000539609.3_Silent_p.A609A|ZEB2_ENST00000409487.3_Silent_p.A633A	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	633						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	p.A633A(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ACAAGAGGAGGGCTTTATTAT	0.428000													6	79					3.59834e-05	4.50131e-05	0.001168	1	0
MUC17	140453	broad.mit.edu	37	7	100679784	100679784	+	Missense_Mutation	SNP	C	C	A	rs146239691		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:100679784C>A	ENST00000306151.4	+	3	5151	c.5087C>A	c.(5086-5088)aCt>aAt	p.T1696N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1696	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T1696N(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACAAGTATAACTGTCAGAACA	0.473000													119	235					9.55279e-52	1.91981e-51	0.003610	1	0
CDH11	1009	broad.mit.edu	37	16	64982668	64982668	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:64982668G>T	ENST00000394156.3	-	13	2370	c.1917C>A	c.(1915-1917)ccC>ccA	p.P639P	CDH11_ENST00000268603.4_Intron|CDH11_ENST00000566827.1_Intron			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	0					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGGGAGAGGGGGGTTCCATTA	0.438000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			3	10					3.59834e-05	4.50131e-05	0.001168	1	0
SLITRK1	114798	broad.mit.edu	37	13	84454951	84454951	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:84454951G>T	ENST00000377084.2	-	1	1577	c.692C>A	c.(691-693)cCc>cAc	p.P231H		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	231	LRRCT 1.					integral to membrane		p.P231Q(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGCATTCTTGGGAATGTTTTC	0.522000													14	63					1.3612e-06	1.83409e-06	0.003163	1	0
CHD3	1107	broad.mit.edu	37	17	7796813	7796813	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:7796813C>T	ENST00000380358.4	+	5	897	c.896C>T	c.(895-897)cCc>cTc	p.P299L	CHD3_ENST00000358181.4_Missense_Mutation_p.P240L|CHD3_ENST00000330494.7_Missense_Mutation_p.P240L	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	240					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	p.P240L(1)		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)				TCCGGACCCCCCGCCCTTCCA	0.637000													15	18					0	0	0.002450	0	0
IFNA8	3445	broad.mit.edu	37	9	21409265	21409265	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:21409265C>A	ENST00000380205.1	+	1	120	c.90C>A	c.(88-90)caC>caA	p.H30Q		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	30					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	p.H30Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		CTCAGACTCACAGCCTGGGTA	0.502000													12	189					0.000978159	0.00115569	0.000978	1	0
VEZT	55591	broad.mit.edu	37	12	95660205	95660205	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:95660205G>T	ENST00000436874.1	+	5	612	c.507G>T	c.(505-507)tgG>tgT	p.W169C	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.W121C	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	169				W -> R (in Ref. 2; AAG38485).		acrosomal vesicle|adherens junction|integral to membrane|nucleus		p.W169F(2)		endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TGTCTTCCTGGCTGGTATGGG	0.423000													171	232					3.33666e-98	6.74648e-98	0.003610	1	0
AMY1B	277	broad.mit.edu	37	1	104234119	104234119	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:104234119C>T	ENST00000330330.5	-	7	1286	c.992G>A	c.(991-993)tGg>tAg	p.W331*	AMY1B_ENST00000370080.3_Nonsense_Mutation_p.W331*	NM_001008218.1	NP_001008219.1	P04745	AMY1_HUMAN	amylase, alpha 1B (salivary)	331					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding|protein binding	p.W331*(1)		large_intestine(1)|lung(1)	2		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		CCTAGCATCCCAGAAGGTAAG	0.383000													50	201					0	0	0.003610	0	0
PCNXL2	80003	broad.mit.edu	37	1	233296138	233296138	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:233296138C>A	ENST00000258229.8	-	19	3642	c.3408G>T	c.(3406-3408)gtG>gtT	p.V1136V	PCNXL2_ENST00000488780.2_Silent_p.V269V|PCNXL2_ENST00000520463.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1136						integral to membrane		p.G1137W(1)		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)				TTACAAACCCCACGGCTCCAG	0.502000													15	60					0.00400662	0.00466082	0.004007	1	0
PI4KA	5297	broad.mit.edu	37	22	21152932	21152932	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:21152932C>A	ENST00000255882.6	-	17	2134	c.2048G>T	c.(2047-2049)aGt>aTt	p.S683I	PI4KA_ENST00000572273.1_Missense_Mutation_p.S625I	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	625					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	p.S625I(2)		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)			GGCCTTCACACTGATCTGCTG	0.488000													28	126					6.07407e-21	1.11661e-20	0.007291	1	0
VWA3A	146177	broad.mit.edu	37	16	22152985	22152985	+	Silent	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:22152985G>C	ENST00000389398.5	+	24	2562	c.2466G>C	c.(2464-2466)ctG>ctC	p.L822L	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	822						extracellular region		p.L18L(1)|p.L822L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CTCTTTTACTGTTCTACACAG	0.537000													5	18					0	0	0.000602	0	0
RXFP1	59350	broad.mit.edu	37	4	159568212	159568212	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:159568212G>A	ENST00000307765.5	+	16	1866	c.1615G>A	c.(1615-1617)Ggt>Agt	p.G539S	RXFP1_ENST00000343542.5_Missense_Mutation_p.G491S|RXFP1_ENST00000448688.2_Missense_Mutation_p.G434S|RXFP1_ENST00000470033.1_Missense_Mutation_p.G506S|RXFP1_ENST00000460056.2_Missense_Mutation_p.G458S	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	539						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.G539S(1)		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)		TTGGATTACTGGTTTTATAGT	0.358000													11	59					0	0	0.008291	0	0
PKD1L1	168507	broad.mit.edu	37	7	47944149	47944149	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:47944149C>A	ENST00000289672.2	-	12	1807	c.1757G>T	c.(1756-1758)aGg>aTg	p.R586M		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	586	PKD 1.				cell-cell adhesion	integral to membrane		p.R586M(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CTTCTGCACCCTGATGACATG	0.547000													6	47					1.06961e-07	1.50599e-07	0.003080	1	0
KIAA1614	57710	broad.mit.edu	37	1	180885948	180885948	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:180885948A>T	ENST00000367588.4	+	2	764	c.709A>T	c.(709-711)Agg>Tgg	p.R237W		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	237								p.R237W(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TCCCAGCCCAAGGACAGGAAG	0.582000													83	167					0	0	0.003610	0	0
CDH19	28513	broad.mit.edu	37	18	64178885	64178885	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:64178885G>T	ENST00000262150.2	-	10	1788	c.1496C>A	c.(1495-1497)tCc>tAc	p.S499Y	CDH19_ENST00000540086.1_Intron	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	499	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S499Y(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CTCTTCTATGGATTCATCTCT	0.333000													19	53					1.67942e-08	2.45408e-08	0.006122	1	0
RHNO1	83695	broad.mit.edu	37	12	2997093	2997093	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:2997093A>T	ENST00000489288.2	+	3	337	c.185A>T	c.(184-186)gAt>gTt	p.D62V	RHNO1_ENST00000461997.2_Missense_Mutation_p.D48V|RHNO1_ENST00000464682.2_3'UTR	NM_001252499.2|NM_001257097.1|NM_001257098.1	NP_001239428.1|NP_001244026.1|NP_001244027.1			RAD9-HUS1-RAD1 interacting nuclear orphan 1									p.D62V(1)									CCTGATTTTGATACAGCAGCA	0.418000													7	14					0	0	0.001984	0	0
SGOL2	151246	broad.mit.edu	37	2	201437779	201437779	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:201437779A>T	ENST00000357799.4	+	7	2808	c.2710A>T	c.(2710-2712)Aat>Tat	p.N904Y		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	904					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	p.N904Y(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						ATCAAAAATAAATAAGCTCAG	0.303000													12	195					0	0	0.000978	0	0
FAT3	120114	broad.mit.edu	37	11	92534273	92534273	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:92534273C>A	ENST00000298047.6	+	9	8111	c.8094C>A	c.(8092-8094)gtC>gtA	p.V2698V	FAT3_ENST00000409404.2_Silent_p.V2698V|FAT3_ENST00000525166.1_Silent_p.V2548V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2698	Cadherin 24.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V2698V(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATATCCACGTCTTGCCCCCTG	0.463000										TCGA Ovarian(4;0.039)			17	55					1.99824e-07	2.77347e-07	0.004990	1	0
HIST1H2AE	3012	broad.mit.edu	37	6	26217275	26217275	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:26217275C>T	ENST00000303910.2	+	1	111	c.73C>T	c.(73-75)Cag>Tag	p.Q25*		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	25					nucleosome assembly	nucleosome|nucleus	DNA binding	p.Q25*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				GGCCGGTCTTCAGTTTCCAGT	0.577000													6	49					0	0	0.001168	0	0
SLC25A43	203427	broad.mit.edu	37	X	118544216	118544216	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:118544216G>T	ENST00000217909.7	+	3	925	c.581G>T	c.(580-582)gGa>gTa	p.G194V	SLC25A43_ENST00000336249.7_Intron|SLC25A43_ENST00000488158.1_3'UTR	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	194					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	p.G194V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						ATCTGGAACGGACCCCGAGAT	0.527000													50	51					5.13769e-22	9.53978e-22	0.003610	1	0
BMPER	168667	broad.mit.edu	37	7	34014337	34014337	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:34014337T>C	ENST00000297161.2	+	7	891	c.517T>C	c.(517-519)Tat>Cat	p.Y173H	BMPER_ENST00000426693.1_Missense_Mutation_p.Y173H	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	173	VWFC 3.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		p.Y173H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GGGTGTGCAGTATCAAGAAGG	0.483000													18	115					0	0	0.006122	0	0
EPB41L1	2036	broad.mit.edu	37	20	34797802	34797802	+	Silent	SNP	G	G	T	rs142392996		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:34797802G>T	ENST00000338074.2	+	15	2222	c.2061G>T	c.(2059-2061)ccG>ccT	p.P687P	EPB41L1_ENST00000441639.1_Silent_p.P613P|EPB41L1_ENST00000202028.5_Silent_p.P613P|EPB41L1_ENST00000479336.1_3'UTR|EPB41L1_ENST00000373941.1_Silent_p.P687P|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000373950.2_Silent_p.P578P	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	687					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	p.P687P(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GCTCCACCCCGGATATGCCCC	0.657000													8	21					0.00448238	0.00518158	0.004482	1	0
MPHOSPH9	10198	broad.mit.edu	37	12	123679134	123679134	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:123679134T>A	ENST00000606320.1	-	13	2246	c.2040A>T	c.(2038-2040)gaA>gaT	p.E680D	MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.E528D|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.E528D|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.E650D			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	528					M phase of mitotic cell cycle	centriole|Golgi membrane		p.E528D(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CACTGAAGCGTTCTCTCAAAT	0.373000													12	23					0	0	0.002450	0	0
HDAC4	9759	broad.mit.edu	37	2	239990288	239990288	+	Silent	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:239990288C>G	ENST00000345617.3	-	23	3542	c.2751G>C	c.(2749-2751)ccG>ccC	p.P917P	HDAC4_ENST00000543185.1_Silent_p.P501P	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	917	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	p.P917P(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CGCTGGCGATCGGCATGACCA	0.612000													15	51					0	0	0.004007	0	0
SERPINB9	5272	broad.mit.edu	37	6	2900746	2900746	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:2900746T>C	ENST00000380698.4	-	2	189	c.100A>G	c.(100-102)Agc>Ggc	p.S34G		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	34					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity	p.S34G(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GAGGAGATGCTCACAGGAGAA	0.522000													64	118					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179613326	179613326	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:179613326C>G	ENST00000360870.5	-	46	14023	c.13801G>C	c.(13801-13803)Gct>Cct	p.A4601P	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	726	Ig-like 26.						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)			TTAAAATAAGCTTCTTCTGGT	0.348000													31	136					0	0	0.008361	0	0
NOTCH2	4853	broad.mit.edu	37	1	120461117	120461117	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:120461117G>A	ENST00000256646.2	-	32	6060	c.5841C>T	c.(5839-5841)ccC>ccT	p.P1947P		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1947					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P1947P(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAGGATCAGGGGTGTAGTAC	0.502000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				14	62					0	0	0.001855	0	0
SLC4A10	57282	broad.mit.edu	37	2	162821590	162821590	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:162821590G>A	ENST00000375514.5	+	23	3296	c.3009G>A	c.(3007-3009)ttG>ttA	p.L1003L	SLC4A10_ENST00000272716.5_Silent_p.L992L|SLC4A10_ENST00000446997.1_Silent_p.L1022L|SLC4A10_ENST00000421911.1_Silent_p.L1022L|SLC4A10_ENST00000415876.2_Silent_p.L992L	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	1022					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	p.L992L(1)|p.L1022L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TAAGAAAGTTGATGGACTTGT	0.378000													5	54					0	0	0.000602	0	0
ATP13A5	344905	broad.mit.edu	37	3	193029655	193029655	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:193029655C>A	ENST00000342358.4	-	20	2512	c.2395G>T	c.(2395-2397)Ggg>Tgg	p.G799W	ATP13A5-AS1_ENST00000414634.1_RNA|ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	799					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.G799W(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TATGATTTCCCACTCATTGCA	0.403000													18	65					3.52763e-06	4.63281e-06	0.004990	1	0
RANGAP1	5905	broad.mit.edu	37	22	41645438	41645438	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:41645438C>A	ENST00000455915.2	-	14	3059	c.1590G>T	c.(1588-1590)aaG>aaT	p.K530N	RANGAP1_ENST00000407260.4_Missense_Mutation_p.K475N|RANGAP1_ENST00000356244.3_Missense_Mutation_p.K530N|RANGAP1_ENST00000405486.1_Missense_Mutation_p.K530N			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	530					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	p.K530N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGCAATGGCCTTGACCTTGT	0.597000													8	41					0.000157383	0.000191818	0.003080	1	0
KRTAP19-6	337973	broad.mit.edu	37	21	31914007	31914007	+	Missense_Mutation	SNP	C	C	T	rs146590456		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr21:31914007C>T	ENST00000334046.5	-	1	176	c.146G>A	c.(145-147)cGt>cAt	p.R49H		NM_181612.2	NP_853643.1	Q3LI70	KR196_HUMAN	keratin associated protein 19-6	49						intermediate filament		p.R49H(1)		breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	9						ATATCCTTCACGGCATGATGG	0.493000													18	191					0	0	0.004990	0	0
ZFP90	146198	broad.mit.edu	37	16	68597462	68597462	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:68597462G>T	ENST00000570495.1	+	5	1064	c.772G>T	c.(772-774)Gac>Tac	p.D258Y	ZFP90_ENST00000563169.2_Missense_Mutation_p.D258Y|ZFP90_ENST00000398253.2_Missense_Mutation_p.D258Y|RP11-615I2.7_ENST00000571720.1_RNA			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	258					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D258Y(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		TGAATGTACCGACTGTGGGAA	0.423000													26	139					3.99451e-17	7.11468e-17	0.001786	1	0
ODAM	54959	broad.mit.edu	37	4	71066320	71066320	+	Splice_Site	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:71066320T>C	ENST00000396094.2	+	6	576		c.e6+2			NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated						biomineral tissue development|odontogenesis of dentine-containing tooth	fibril		p.?(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						GAGGAGCAGGTACTGCAAATG	0.358000													13	30					0	0	0.001368	0	0
EIF4G1	1981	broad.mit.edu	37	3	184045208	184045208	+	Silent	SNP	G	G	T	rs113108196		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:184045208G>T	ENST00000342981.4	+	23	4050	c.3636G>T	c.(3634-3636)acG>acT	p.T1212T	EIF4G1_ENST00000414031.1_Silent_p.T1171T|EIF4G1_ENST00000424196.1_Silent_p.T1218T|EIF4G1_ENST00000346169.2_Silent_p.T1211T|EIF4G1_ENST00000435046.2_Silent_p.T1015T|EIF4G1_ENST00000441154.1_Silent_p.T1048T|EIF4G1_ENST00000382330.3_Silent_p.T1218T|EIF4G1_ENST00000392537.2_Silent_p.T1124T|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Silent_p.T1016T|EIF4G1_ENST00000427845.1_Silent_p.T1125T|EIF4G1_ENST00000319274.6_Silent_p.T1211T|EIF4G1_ENST00000352767.3_Silent_p.T1218T|EIF4G1_ENST00000350481.5_Silent_p.T1047T|EIF4G1_ENST00000411531.1_Silent_p.T1172T	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1211					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.T1211T(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTAGCCTCACGGAGGATCGGG	0.627000													20	60					1.33834e-09	2.02335e-09	0.007413	1	0
CDH11	1009	broad.mit.edu	37	16	64984694	64984694	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:64984694G>T	ENST00000394156.3	-	12	2323	c.1870C>A	c.(1870-1872)Ctc>Atc	p.L624I	CDH11_ENST00000268603.4_Missense_Mutation_p.L624I|CDH11_ENST00000566827.1_Missense_Mutation_p.L498I			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	624					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.L624I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		ATGCAGGCGAGGATGGCGATC	0.617000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			5	37					5.9392e-07	8.08784e-07	0.001168	1	0
RAD54L	8438	broad.mit.edu	37	1	46725742	46725742	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:46725742G>T	ENST00000371975.4	+	5	1052	c.378G>T	c.(376-378)ctG>ctT	p.L126L	RAD54L_ENST00000442598.1_Silent_p.L126L	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	126					meiosis	nucleus	ATP binding|DNA binding|helicase activity	p.L126L(1)		breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CTCCCCCGCTGAGCGCTCATG	0.557000								Direct reversal of damage;Homologous recombination					25	144					1.66031e-10	2.58547e-10	0.003954	1	0
TNR	7143	broad.mit.edu	37	1	175372526	175372526	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:175372526C>A	ENST00000367674.1	-	4	1434	c.726G>T	c.(724-726)cgG>cgT	p.R242R	TNR_ENST00000263525.2_Silent_p.R242R	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	242	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.R242R(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CGCAGAGCCCCCGGGAGCTGC	0.642000													39	44					1.30998e-17	2.34582e-17	0.005524	1	0
IRX1	79192	broad.mit.edu	37	5	3599391	3599391	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:3599391C>G	ENST00000302006.3	+	2	381	c.329C>G	c.(328-330)gCa>gGa	p.A110G	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	110						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A110G(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GCCACCTTCGCAGCCCACACG	0.647000													4	84					0	0	0.000248	0	0
GPR6	2830	broad.mit.edu	37	6	110300858	110300858	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:110300858C>A	ENST00000414000.2	+	3	827	c.588C>A	c.(586-588)acC>acA	p.T196T	GPR6_ENST00000275169.3_Silent_p.T181T			P46095	GPR6_HUMAN	G protein-coupled receptor 6	181						integral to plasma membrane		p.T181T(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		CGCGCCGGACCCTGTTGGGCG	0.672000													7	50					1.06961e-07	1.50599e-07	0.003080	1	0
CCT5	22948	broad.mit.edu	37	5	10258573	10258573	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:10258573G>T	ENST00000280326.4	+	6	1219	c.799G>T	c.(799-801)Gat>Tat	p.D267Y	CCT5_ENST00000515390.1_Missense_Mutation_p.D212Y|CCT5_ENST00000515676.1_Missense_Mutation_p.D229Y|CCT5_ENST00000506600.1_Missense_Mutation_p.D174Y|CCT5_ENST00000503026.1_Missense_Mutation_p.D246Y	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	267					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding	p.D267Y(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						GCATAAGCTGGATGTGACCTC	0.393000													9	93					0.00448238	0.00518158	0.004482	1	0
RAD50	10111	broad.mit.edu	37	5	131895051	131895051	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:131895051G>T	ENST00000265335.6	+	2	592	c.205G>T	c.(205-207)Gat>Tat	p.D69Y	RAD50_ENST00000378823.3_5'UTR			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	69					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	p.D69Y(1)|p.D69N(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTTGTACACGATCCCAAGGT	0.284000								Homologous recombination					31	80					1.06801e-11	1.70635e-11	0.001786	1	0
CXCR4	7852	broad.mit.edu	37	2	136873041	136873041	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:136873041C>T	ENST00000409817.1	-	1	772	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	CXCR4_ENST00000241393.3_Missense_Mutation_p.E153K|CXCR4_ENST00000466288.1_5'UTR	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	153					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	p.E157K(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	ACCACCTTTTCAGCCAACAGC	0.547000													27	110					0	0	0.003954	0	0
KRT74	121391	broad.mit.edu	37	12	52964617	52964617	+	Splice_Site	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:52964617C>G	ENST00000549343.1	-	5	882	c.843_splice	c.e5-1	p.E282_splice	KRT74_ENST00000305620.2_Splice_Site_p.E282_splice			Q7RTS7	K2C74_HUMAN	keratin 74	282	Coil 1B.|Rod.					keratin filament	structural molecule activity	p.E282Q(1)		kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		TGAGCGATCTCCTGCATTGAG	0.577000													13	26					0	0	0.003163	0	0
MKL1	57591	broad.mit.edu	37	22	40814545	40814545	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:40814545C>G	ENST00000396617.3	-	12	2487	c.1897G>C	c.(1897-1899)Gag>Cag	p.E633Q	MKL1_ENST00000402042.1_Missense_Mutation_p.E583Q|MKL1_ENST00000355630.3_Missense_Mutation_p.E633Q|MKL1_ENST00000407029.1_Missense_Mutation_p.E633Q			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	633	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	p.E633Q(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGGACCGGCTCGGGCTCAGGC	0.697000			T	RBM15	acute megakaryocytic leukemia								4	49					0	0	0.000248	0	0
CYP4F3	4051	broad.mit.edu	37	19	15757873	15757873	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:15757873C>A	ENST00000221307.7	+	4	403	c.355C>A	c.(355-357)Cca>Aca	p.P119T	CYP4F3_ENST00000591058.1_Missense_Mutation_p.P119T|CYP4F3_ENST00000585846.1_Missense_Mutation_p.P119T|CYP4F3_ENST00000586182.1_Missense_Mutation_p.P119T	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	119					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	p.P119T(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TGCCATTGTACCAAAGGACAA	0.567000													15	87					9.16793e-09	1.35519e-08	0.004990	1	0
CSMD2	114784	broad.mit.edu	37	1	34204909	34204909	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:34204909G>C	ENST00000373381.4	-	15	2376	c.2200C>G	c.(2200-2202)Cct>Gct	p.P734A		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	694	Sushi 4.					integral to membrane|plasma membrane	protein binding	p.P694A(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)				GGAACGCCAGGATCCGGGCAC	0.522000													33	110					0	0	0.002445	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14974866	14974866	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:14974866C>A	ENST00000453695.2	-	9	851	c.407G>T	c.(406-408)tGc>tTc	p.C136F	DCLRE1C_ENST00000378249.1_Missense_Mutation_p.C141F|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.C136F|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.C256F|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.C141F|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.C136F|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.C141F|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.C136F|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.C256F|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.C136F	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	256					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity	p.C141F(1)|p.C256F(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GGGATGCCGGCATGCATGGAT	0.438000								Non-homologous end-joining					63	168					6.00099e-30	1.17611e-29	0.003610	1	0
IGLV3-21	28796	broad.mit.edu	37	22	23055496	23055496	+	RNA	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:23055496G>C	ENST00000390308.2	+	0	410																											GTGTGCACTGGTACCAGCAGA	0.587000													10	33					0	0	0.008291	0	0
CPED1	79974	broad.mit.edu	37	7	120911417	120911417	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:120911417C>A	ENST00000310396.5	+	22	3268	c.2801C>A	c.(2800-2802)aCa>aAa	p.T934K		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1									p.T934K(1)									GTAGTTGACACATTCACTATA	0.363000													32	105					3.90053e-15	6.73764e-15	0.002445	1	0
GABRB1	2560	broad.mit.edu	37	4	47405711	47405711	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:47405711C>A	ENST00000295454.3	+	7	1110	c.818C>A	c.(817-819)gCa>gAa	p.A273E	GABRB1_ENST00000538619.1_Missense_Mutation_p.A203E	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	273					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.A273E(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GATGCATCTGCAGCCAGAGTC	0.393000													7	59					2.0095e-06	2.67503e-06	0.001984	1	0
PRPS1	5631	broad.mit.edu	37	X	106890894	106890894	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:106890894G>T	ENST00000372435.4	+	6	885	c.763G>T	c.(763-765)Ggt>Tgt	p.G255C	PRPS1_ENST00000372428.4_Missense_Mutation_p.G188C|PRPS1_ENST00000543248.1_Missense_Mutation_p.G255C|PRPS1_ENST00000372418.1_Missense_Mutation_p.G155C	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	255					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	p.G255C(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						AATCTTCTCCGGTCCTGCTAT	0.443000													28	66					1.39806e-14	2.39255e-14	0.008361	1	0
TET1	80312	broad.mit.edu	37	10	70332962	70332962	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:70332962C>A	ENST00000373644.4	+	2	1076	c.867C>A	c.(865-867)ccC>ccA	p.P289P		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	289					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.P289P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ACCTGGATCCCATTAAAAGTG	0.438000													16	91					1.99824e-07	2.77347e-07	0.004990	1	0
NTM	50863	broad.mit.edu	37	11	132016316	132016316	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:132016316A>G	ENST00000374786.1	+	2	787	c.308A>G	c.(307-309)cAg>cGg	p.Q103R	NTM_ENST00000374784.1_Missense_Mutation_p.Q103R|NTM_ENST00000374791.3_Missense_Mutation_p.Q103R|NTM_ENST00000427481.2_Missense_Mutation_p.Q94R|NTM_ENST00000425719.2_Missense_Mutation_p.Q103R|NTM_ENST00000539799.1_Missense_Mutation_p.Q103R	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	103	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.Q103R(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						ATCGAGATCCAGAACGTGGAT	0.557000													9	74					0	0	0.004482	0	0
ST8SIA6	338596	broad.mit.edu	37	10	17369028	17369028	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:17369028G>T	ENST00000377602.4	-	6	694	c.620C>A	c.(619-621)tCc>tAc	p.S207Y		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	207					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.S207Y(1)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						AACGAAGTCGGATTTATCTAT	0.393000													16	53					1.67942e-08	2.45408e-08	0.006122	1	0
OR10X1	128367	broad.mit.edu	37	1	158549326	158549326	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:158549326C>T	ENST00000368150.1	-	1	363	c.364G>A	c.(364-366)Gga>Aga	p.G122R		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G122R(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CCACCAAGTCCCAAGAAGAAG	0.468000													6	140					0	0	0.001984	0	0
SOBP	55084	broad.mit.edu	37	6	107824904	107824904	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:107824904G>T	ENST00000317357.5	+	2	799	c.140G>T	c.(139-141)gGc>gTc	p.G47V		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	47							metal ion binding	p.G47V(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GGCTGGTATGGCTATGATAAG	0.388000													9	76					0.000274275	0.000330884	0.004482	1	0
NTNG1	22854	broad.mit.edu	37	1	107979327	107979327	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:107979327T>A	ENST00000370068.1	+	7	2142	c.1296T>A	c.(1294-1296)tgT>tgA	p.C432*	NTNG1_ENST00000542803.1_Nonsense_Mutation_p.C432*|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370061.3_Nonsense_Mutation_p.C398*|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370073.2_Nonsense_Mutation_p.C432*|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370071.2_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1	432	Laminin EGF-like 3.				axonogenesis	anchored to plasma membrane	protein binding	p.C432*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ATGATCGTTGTAATGGCTCAG	0.463000													8	50					0	0	0.003080	0	0
PALM2	114299	broad.mit.edu	37	9	112705122	112705122	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:112705122G>T	ENST00000448454.2	+	8	659	c.659G>T	c.(658-660)gGc>gTc	p.G220V	AKAP2_ENST00000555236.1_Intron|PALM2_ENST00000314527.4_Missense_Mutation_p.G218V|AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000483909.1_Missense_Mutation_p.G184V|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2-AKAP2_ENST00000374530.3_Intron|PALM2_ENST00000374531.2_Missense_Mutation_p.G186V					paralemmin 2									p.G186V(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						CGCTCAGGAGGCACCGTAGTA	0.468000													9	38					3.09899e-07	4.25502e-07	0.004482	1	0
NCSTN	23385	broad.mit.edu	37	1	160326401	160326401	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:160326401C>T	ENST00000368063.1	+	16	1871	c.1591C>T	c.(1591-1593)Ctt>Ttt	p.L531F	NCSTN_ENST00000535857.1_Missense_Mutation_p.L413F|NCSTN_ENST00000294785.5_Missense_Mutation_p.L551F|NCSTN_ENST00000368065.4_Missense_Mutation_p.L293F|NCSTN_ENST00000392212.4_Missense_Mutation_p.L531F			Q92542	NICA_HUMAN	nicastrin	551					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	p.L551F(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGACGGGCCTCTTCAACATTA	0.512000													88	158					0	0	0.003610	0	0
VPS13C	54832	broad.mit.edu	37	15	62325678	62325678	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:62325678G>A	ENST00000261517.5	-	5	420	c.347C>T	c.(346-348)tCc>tTc	p.S116F	VPS13C_ENST00000395896.4_Missense_Mutation_p.S116F|VPS13C_ENST00000395898.3_Missense_Mutation_p.S116F|VPS13C_ENST00000249837.3_Missense_Mutation_p.S116F	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	116					protein localization			p.S116F(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTCAATTCGGGATAGCTCTTT	0.289000													3	21					0	0	0.000248	0	0
DSG1	1828	broad.mit.edu	37	18	28914145	28914145	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:28914145G>T	ENST00000257192.4	+	8	1197	c.985G>T	c.(985-987)Gga>Tga	p.G329*		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	329	Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.G329*(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AACAAATGTGGGAATTTTAAA	0.279000													14	81					1.41608e-15	2.45888e-15	0.001855	1	0
EXOC2	55770	broad.mit.edu	37	6	572554	572554	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:572554C>T	ENST00000230449.4	-	13	1544	c.1409G>A	c.(1408-1410)tGg>tAg	p.W470*	EXOC2_ENST00000448181.3_Nonsense_Mutation_p.W65*	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	470					exocytosis|protein transport			p.W470*(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GTAGGAGATCCAGAGTTTCCA	0.478000													16	53					0	0	0.004990	0	0
NLRP12	91662	broad.mit.edu	37	19	54314336	54314336	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:54314336G>A	ENST00000324134.6	-	3	745	c.577C>T	c.(577-579)Ccc>Tcc	p.P193S	NLRP12_ENST00000354278.3_Missense_Mutation_p.P193S|NLRP12_ENST00000391772.1_Missense_Mutation_p.P193S|NLRP12_ENST00000535162.1_Missense_Mutation_p.P193S|NLRP12_ENST00000391773.1_Missense_Mutation_p.P193S|NLRP12_ENST00000351894.4_Missense_Mutation_p.P193S|NLRP12_ENST00000345770.5_Missense_Mutation_p.P193S|NLRP12_ENST00000391775.3_Missense_Mutation_p.P193S	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	193					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.P193S(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		ATCTTGATGGGGCTAGCCTGG	0.642000													6	72					0	0	0.001168	0	0
KIAA1432	57589	broad.mit.edu	37	9	5754900	5754900	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:5754900G>A	ENST00000414202.2	+	15	1853	c.1662G>A	c.(1660-1662)gcG>gcA	p.A554A	KIAA1432_ENST00000251879.6_Silent_p.A554A|KIAA1432_ENST00000381532.2_Silent_p.A475A|KIAA1432_ENST00000418622.3_Silent_p.A475A|KIAA1432_ENST00000449720.2_Silent_p.A438A	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	554						integral to membrane		p.A475A(1)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TGGTCCTTGCGTGTTATAACA	0.289000													5	81					0	0	0.001984	0	0
BRAF	673	broad.mit.edu	37	7	140481411	140481411	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:140481411C>A	ENST00000288602.6	-	11	1457	c.1397G>T	c.(1396-1398)gGa>gTa	p.G466V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	466	Protein kinase.		G -> A (in melanoma).|G -> E (in melanoma).|G -> V (in LNCR).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.G466V(15)|p.G466E(5)|p.G466A(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCCAAATGATCCAGATCCAAT	0.378000	G466V(CAL12T_LUNG)|G466V(NCIH1666_LUNG)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				30	110					2.42023e-17	4.31998e-17	0.003271	1	0
TENM3	55714	broad.mit.edu	37	4	183522166	183522166	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:183522166A>T	ENST00000511685.1	+	4	724	c.601A>T	c.(601-603)Act>Tct	p.T201S	TENM3_ENST00000406950.2_Missense_Mutation_p.T201S					teneurin transmembrane protein 3									p.T201S(1)									TCCATCCATCACTTCTCTCAA	0.562000													19	193					0	0	0.002299	0	0
PTPRG	5793	broad.mit.edu	37	3	61975456	61975456	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:61975456G>T	ENST00000474889.1	+	3	725	c.348G>T	c.(346-348)tgG>tgT	p.W116C	PTPRG_ENST00000295874.10_Missense_Mutation_p.W116C	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	116	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.W116Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ACAAAACCTGGATGAAAAACA	0.423000													6	48					2.0095e-06	2.67503e-06	0.001984	1	0
MOCS2	4338	broad.mit.edu	37	5	52397233	52397233	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:52397233C>A	ENST00000396954.3	-	5	1010	c.333G>T	c.(331-333)agG>agT	p.R111S	MOCS2_ENST00000508922.1_3'UTR|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000582677.1_Intron|MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000361377.4_Intron|MOCS2_ENST00000510818.2_3'UTR	NM_004531.3	NP_004522.1	O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	0					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding	p.R111S(1)		endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				GCCATTTCTGCCTAATGTCAC	0.353000													54	168					1.39843e-22	2.6083e-22	0.003610	1	0
FLG2	388698	broad.mit.edu	37	1	152326249	152326249	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:152326249C>A	ENST00000388718.5	-	3	4085	c.4013G>T	c.(4012-4014)aGa>aTa	p.R1338I	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1338							calcium ion binding|structural molecule activity	p.R1338I(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCAGATGTTCTGGAACCTGT	0.488000													16	351					3.41278e-10	5.28472e-10	0.004990	1	0
GPR108	56927	broad.mit.edu	37	19	6732044	6732044	+	Silent	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:6732044G>C	ENST00000264080.7	-	13	1274	c.1248C>G	c.(1246-1248)ccC>ccG	p.P416P	GPR108_ENST00000598626.1_5'UTR|GPR108_ENST00000430424.4_Silent_p.P174P	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	416						integral to membrane		p.P416P(1)		breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						ACCAGACTACGGGGAACAGGA	0.622000													4	27					0	0	0.000248	0	0
GK	2710	broad.mit.edu	37	X	30726207	30726207	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:30726207G>A	ENST00000378943.3	+	12	1092	c.913G>A	c.(913-915)Gct>Act	p.A305T	GK_ENST00000378946.3_Missense_Mutation_p.A311T|GK_ENST00000427190.1_Missense_Mutation_p.A106T|GK-AS1_ENST00000464659.1_RNA|RP11-242C19.2_ENST00000497961.1_RNA|GK_ENST00000378945.3_Missense_Mutation_p.A305T	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	311					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity	p.A305T(1)		central_nervous_system(1)|large_intestine(3)	4						CACCACAGTGGCTTACAAACT	0.303000													6	34					0	0	0.001984	0	0
DLG2	1740	broad.mit.edu	37	11	84245776	84245776	+	Splice_Site	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:84245776T>C	ENST00000398309.2	-	2	513		c.e2-2		DLG2_ENST00000376104.2_Splice_Site|DLG2_ENST00000543673.1_Splice_Site|DLG2_ENST00000532653.1_Splice_Site|DLG2_ENST00000524982.1_Splice_Site	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)							cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCGATACTTCTAGGAGAAAAG	0.393000													16	205					0	0	0.006122	0	0
SULT4A1	25830	broad.mit.edu	37	22	44237718	44237718	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:44237718G>T	ENST00000330884.4	-	2	384	c.264C>A	c.(262-264)gtC>gtA	p.V88V	SULT4A1_ENST00000249130.5_Silent_p.V88V|SULT4A1_ENST00000540422.1_Intron	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	88					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity	p.V88V(1)		kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		GGTACTCCAGGACCGGGAGCT	0.602000													20	81					1.40151e-16	2.47764e-16	0.001523	1	0
BICD1	636	broad.mit.edu	37	12	32491768	32491768	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:32491768G>T	ENST00000281474.5	+	8	2722	c.2619G>T	c.(2617-2619)ggG>ggT	p.G873G	BICD1_ENST00000548411.1_Intron	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	873					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	p.G873G(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GGACTTCAGGGGCTTCCTACC	0.433000													68	111					1.43987e-31	2.84545e-31	0.003610	1	0
UGT2B28	54490	broad.mit.edu	37	4	70156342	70156342	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:70156342G>T	ENST00000335568.5	+	5	1125	c.1123G>T	c.(1123-1125)Ggt>Tgt	p.G375C	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	375					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.G375C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TATAACTCATGGTGGAGCCAA	0.398000													42	147					1.23713e-20	2.26921e-20	0.003610	1	0
TTC12	54970	broad.mit.edu	37	11	113195353	113195353	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:113195353G>T	ENST00000393020.1	+	5	676	c.271G>T	c.(271-273)Gat>Tat	p.D91Y	TTC12_ENST00000314756.3_Missense_Mutation_p.D91Y|TTC12_ENST00000529221.1_Missense_Mutation_p.D91Y|TTC12_ENST00000483239.2_Missense_Mutation_p.D91Y			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	91							binding	p.D91Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TGTGGAGAAGGATGCAAAGGA	0.398000													8	43					1.06961e-07	1.50599e-07	0.003080	1	0
BMP10	27302	broad.mit.edu	37	2	69093692	69093692	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:69093692G>T	ENST00000295379.1	-	2	504	c.346C>A	c.(346-348)Cag>Aag	p.Q116K		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	116					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding	p.Q116K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CTGACCGGCTGGGAAAACAGA	0.428000													10	35					0.000442599	0.000529715	0.006214	1	0
HOXA10	3206	broad.mit.edu	37	7	27213050	27213050	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:27213050C>A	ENST00000283921.4	-	1	875	c.876G>T	c.(874-876)gcG>gcT	p.A292A	RP1-170O19.20_ENST00000470747.4_Intron|RP1-170O19.20_ENST00000465941.1_Intron|HOXA10_ENST00000396344.4_Intron	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	292				A -> G (in Ref. 1; CAB86198).	spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A292A(1)|p.A275A(1)		breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						ACGACGCGTGCGCCTCCTCGT	0.741000													4	16					0.000602214	0.0007161	0.000602	1	0
FMN2	56776	broad.mit.edu	37	1	240494014	240494014	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:240494014G>A	ENST00000319653.9	+	11	4779	c.4549G>A	c.(4549-4551)Gac>Aac	p.D1517N	FMN2_ENST00000545751.1_Missense_Mutation_p.D113N	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1517	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.D1660N(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTTTGGATTAGACATTCTTCC	0.433000													5	77					0	0	0.000602	0	0
ABCA13	154664	broad.mit.edu	37	7	48315597	48315597	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:48315597T>A	ENST00000435803.1	+	17	6358	c.6334T>A	c.(6334-6336)Tca>Aca	p.S2112T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2112					transport	integral to membrane	ATP binding|ATPase activity	p.S2112T(1)|p.S2057T(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGATTCACCGTCATTGAAGAC	0.338000													14	24					0	0	0.001855	0	0
DRD1	1812	broad.mit.edu	37	5	174869611	174869611	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:174869611G>T	ENST00000393752.2	-	2	1484	c.492C>A	c.(490-492)caC>caA	p.H164Q		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	164					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	p.H164Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	GTTTTGCCTTGTGCCAGCTGA	0.527000													27	66					1.42536e-11	2.27509e-11	0.004656	1	0
SPOCD1	90853	broad.mit.edu	37	1	32259395	32259395	+	Silent	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:32259395T>C	ENST00000360482.2	-	12	2616	c.2487A>G	c.(2485-2487)ccA>ccG	p.P829P	SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Silent_p.P322P|SPOCD1_ENST00000533231.1_Silent_p.P829P	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	829					transcription, DNA-dependent			p.P829P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TGGGCATCTCTGGAGCAGGCA	0.597000													13	177					0	0	0.002450	0	0
SKA3	221150	broad.mit.edu	37	13	21742417	21742417	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:21742417C>A	ENST00000314759.5	-	4	577	c.453G>T	c.(451-453)aaG>aaT	p.K151N	SKA3_ENST00000400018.3_Missense_Mutation_p.K151N	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	151					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	p.K151N(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TACGTGGAGACTTCTCAGAAA	0.428000													18	128					3.52763e-06	4.63281e-06	0.004990	1	0
FOXK1	221937	broad.mit.edu	37	7	4796696	4796696	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:4796696G>T	ENST00000328914.4	+	5	1122	c.1122G>T	c.(1120-1122)ggG>ggT	p.G374G	FOXK1_ENST00000446823.1_Silent_p.G211G	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	374					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.G352G(1)|p.G374G(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)		AGGAGCCTGGGAAGGGGTCCT	0.552000													44	86					2.37825e-27	4.57992e-27	0.002522	1	0
CELSR3	1951	broad.mit.edu	37	3	48697224	48697224	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:48697224C>A	ENST00000544264.1	-	1	3124	c.2844G>T	c.(2842-2844)gaG>gaT	p.E948D	CELSR3_ENST00000164024.4_Missense_Mutation_p.E948D			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	948	Cadherin 6.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.E948V(1)		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)		TGACCATCACCTCCACATAAG	0.532000													24	76					2.98393e-07	4.12777e-07	0.002780	1	0
SLC15A1	6564	broad.mit.edu	37	13	99364135	99364135	+	Silent	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:99364135T>A	ENST00000376503.5	-	11	928	c.873A>T	c.(871-873)ccA>ccT	p.P291P		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	291					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	p.P291P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	CCCAGAACATTGGGAGTGGAA	0.517000													23	87					0	0	0.005443	0	0
PCNT	5116	broad.mit.edu	37	21	47768970	47768970	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr21:47768970A>T	ENST00000359568.5	+	7	1184	c.1077A>T	c.(1075-1077)gaA>gaT	p.E359D	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	359	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	p.E359D(1)		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)					TATGTTTAGAAAATCTACGCA	0.328000													49	112					0	0	0.003610	0	0
GCLC	2729	broad.mit.edu	37	6	53379289	53379289	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:53379289T>A	ENST00000229416.6	-	5	1050	c.567A>T	c.(565-567)ttA>ttT	p.L189F	GCLC_ENST00000514004.1_Missense_Mutation_p.L189F	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	189					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding	p.L189F(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	TATTTCTTGTTAAGGTACTAA	0.383000													4	50					0	0	0.000248	0	0
ANAPC5	51433	broad.mit.edu	37	12	121773445	121773445	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:121773445G>A	ENST00000261819.3	-	7	962	c.841C>T	c.(841-843)Ctg>Ttg	p.L281L	ANAPC5_ENST00000536366.1_Silent_p.L160L|ANAPC5_ENST00000344395.4_Silent_p.L182L|ANAPC5_ENST00000441917.2_Silent_p.L182L|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Silent_p.L281L	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	281					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|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|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTAAGAATCAGACGATCAAAA	0.463000													6	81					0	0	0.006214	0	0
WDR63	126820	broad.mit.edu	37	1	85592309	85592309	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:85592309G>A	ENST00000294664.6	+	20	2408	c.2228G>A	c.(2227-2229)tGg>tAg	p.W743*	WDR63_ENST00000326813.8_Nonsense_Mutation_p.W704*|WDR63_ENST00000370596.1_Nonsense_Mutation_p.W704*	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	743								p.W743*(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		ATTGATATCTGGGACCTTCTG	0.463000													6	53					0	0	0.001168	0	0
LSAMP	4045	broad.mit.edu	37	3	115560789	115560789	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:115560789G>T	ENST00000490035.1	-	6	1321	c.822C>A	c.(820-822)tcC>tcA	p.S274S	LSAMP_ENST00000539563.1_Silent_p.S271S|LSAMP_ENST00000498645.1_5'UTR	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	274	Ig-like C2-type 3.				cell adhesion|nervous system development	anchored to membrane|plasma membrane		p.S274S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		TCACCGTCAGGGAAGACTGGC	0.488000													14	89					9.31168e-06	1.20667e-05	0.001855	1	0
ARHGAP21	57584	broad.mit.edu	37	10	24910126	24910126	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:24910126C>A	ENST00000396432.2	-	9	1184	c.698G>T	c.(697-699)aGt>aTt	p.S233I	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.S20I	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	232					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	p.S232I(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TACTGGTGTACTGGTTTGCTG	0.483000													8	105					1.12685e-05	1.45231e-05	0.004482	1	0
UHRF1BP1	54887	broad.mit.edu	37	6	34826039	34826039	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:34826039C>T	ENST00000192788.5	+	14	2077	c.1906C>T	c.(1906-1908)Cgg>Tgg	p.R636W	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.R636W	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	636								p.R636W(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GAGTCTCTTCCGGGGTTTTGC	0.488000													57	92					0	0	0.003610	0	0
SLC36A1	206358	broad.mit.edu	37	5	150858948	150858948	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:150858948G>T	ENST00000243389.3	+	10	1280	c.1057G>T	c.(1057-1059)Gtc>Ttc	p.V353F	SLC36A1_ENST00000521925.1_Missense_Mutation_p.V353F|SLC36A1_ENST00000520701.1_Missense_Mutation_p.V353F	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	353					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	p.V353F(1)		endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	CCAGTTCTACGTCCCGGCTGA	0.547000													24	62					2.70639e-06	3.58263e-06	0.002299	1	0
PAH	5053	broad.mit.edu	37	12	103249050	103249050	+	Silent	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:103249050C>G	ENST00000553106.1	-	6	1042	c.570G>C	c.(568-570)gtG>gtC	p.V190V	PAH_ENST00000307000.2_Silent_p.V185V	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	190			V -> A (in PKU; haplotype 3).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	p.V190V(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GAGTCTTGAACACTGTGCCCC	0.438000													17	32					0	0	0.004007	0	0
NFATC3	4775	broad.mit.edu	37	16	68156594	68156594	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:68156594C>T	ENST00000349223.5	+	2	1032	c.808C>T	c.(808-810)Ccc>Tcc	p.P270S	NFATC3_ENST00000575270.1_Missense_Mutation_p.P270S|NFATC3_ENST00000329524.4_Missense_Mutation_p.P270S|NFATC3_ENST00000346183.3_Missense_Mutation_p.P270S|NFATC3_ENST00000535127.2_3'UTR	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	270	3 X SP repeats.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	p.P270S(4)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GCCCACATCCCCCTGTGGGAA	0.582000													12	69					0	0	0.000978	0	0
NLN	57486	broad.mit.edu	37	5	65084126	65084126	+	Silent	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:65084126C>G	ENST00000380985.5	+	8	1318	c.1140C>G	c.(1138-1140)ctC>ctG	p.L380L	NLN_ENST00000502464.1_Silent_p.L276L	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	380					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity	p.L380L(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		AAGAGTTCCTCAAGGAATACT	0.418000													27	109					0	0	0.005443	0	0
BSDC1	55108	broad.mit.edu	37	1	32842006	32842006	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:32842006G>A	ENST00000341071.7	-	9	1075	c.1064C>T	c.(1063-1065)aCg>aTg	p.T355M	BSDC1_ENST00000455895.2_Missense_Mutation_p.T338M|BSDC1_ENST00000419121.2_Missense_Mutation_p.T282M|BSDC1_ENST00000526031.1_Missense_Mutation_p.T243M|BSDC1_ENST00000449308.1_Missense_Mutation_p.T338M|BSDC1_ENST00000413080.1_Missense_Mutation_p.T277M|BSDC1_ENST00000446293.2_Missense_Mutation_p.T355M			Q9NW68	BSDC1_HUMAN	BSD domain containing 1	338							protein binding	p.T355M(2)		breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCCAGCAGGCGTTAGGGGCTT	0.622000													12	141					0	0	0.001855	0	0
BMS1	9790	broad.mit.edu	37	10	43287086	43287086	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:43287086G>T	ENST00000374518.4	+	6	711	c.648G>T	c.(646-648)ctG>ctT	p.L216L		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	216					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	p.L216L(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTGCCAAGCTGTTCTACCTTT	0.343000													23	109					1.87028e-06	2.50376e-06	0.001882	1	0
WRN	7486	broad.mit.edu	37	8	30977913	30977913	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:30977913G>T	ENST00000298139.5	+	21	2852	c.2603G>T	c.(2602-2604)tGg>tTg	p.W868L		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	868	Helicase C-terminal.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	p.W868L(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CACGTCCTCTGGGCTCCTGCA	0.368000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				8	55					0.00307968	0.00358504	0.003080	1	0
CRYBB1	1414	broad.mit.edu	37	22	27012132	27012132	+	Missense_Mutation	SNP	G	G	C	rs144920095	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:27012132G>C	ENST00000215939.2	-	2	282	c.152C>G	c.(151-153)gCg>gGg	p.A51G		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	51	N-terminal arm.				visual perception		structural constituent of eye lens	p.A51G(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						CAGTTCCGCCGCCTTGGCGCT	0.637000													14	47					0	0	0.003163	0	0
COL25A1	84570	broad.mit.edu	37	4	109738569	109738569	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:109738569G>C	ENST00000399132.1	-	37	2476	c.1946C>G	c.(1945-1947)cCt>cGt	p.P649R		NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	649						collagen|extracellular space	beta-amyloid binding|heparin binding	p.P649R(1)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCAACAGCCAGGCATGGGTAA	0.413000													5	72					0	0	0.001984	0	0
PAPPA2	60676	broad.mit.edu	37	1	176769207	176769207	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:176769207G>T	ENST00000367662.3	+	21	6305	c.5141G>T	c.(5140-5142)tGc>tTc	p.C1714F		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1714	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.C1714F(1)		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						AGCATTGTGTGCACTGGCCGG	0.502000													16	232					1.67942e-08	2.45408e-08	0.006122	1	0
OR2T4	127074	broad.mit.edu	37	1	248525501	248525501	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:248525501C>T	ENST00000366475.1	+	1	619	c.619C>T	c.(619-621)Cat>Tat	p.H207Y		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H207Y(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			CCGGGAGATTCATCATTTCTT	0.498000													29	270					0	0	0.006320	0	0
UBR4	23352	broad.mit.edu	37	1	19478261	19478261	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:19478261C>A	ENST00000375267.2	-	48	7092	c.7089G>T	c.(7087-7089)cgG>cgT	p.R2363R	UBR4_ENST00000375254.3_Silent_p.R2363R|UBR4_ENST00000375226.2_Silent_p.R2363R|UBR4_ENST00000375217.2_Silent_p.R2363R			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2363					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.R2363R(1)		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)		ATGACGGGGCCCGTTCTATTG	0.522000													22	76					4.26978e-12	6.88139e-12	0.003330	1	0
STXBP5L	9515	broad.mit.edu	37	3	121126217	121126217	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:121126217G>T	ENST00000273666.6	+	24	3058	c.2787G>T	c.(2785-2787)tgG>tgT	p.W929C	STXBP5L_ENST00000472879.1_Missense_Mutation_p.W905C|STXBP5L_ENST00000492541.1_Missense_Mutation_p.W929C|STXBP5L_ENST00000471454.1_Missense_Mutation_p.W905C|STXBP5L_ENST00000497029.1_Missense_Mutation_p.W903C	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	929					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.W929C(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AAAAATCTTGGAGAAGGAAAG	0.393000													20	53					7.41877e-09	1.09761e-08	0.001882	1	0
FIGNL1	63979	broad.mit.edu	37	7	50514655	50514655	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:50514655T>A	ENST00000419119.1	-	2	1884	c.331A>T	c.(331-333)Aaa>Taa	p.K111*	FIGNL1_ENST00000435566.1_3'UTR|FIGNL1_ENST00000433017.1_Nonsense_Mutation_p.K111*|FIGNL1_ENST00000395556.2_Nonsense_Mutation_p.K111*|FIGNL1_ENST00000356889.4_Nonsense_Mutation_p.K111*			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	111					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	p.K111*(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				CTACTCATTTTGAAAACATTA	0.383000													14	110					0	0	0.003163	0	0
BRINP2	57795	broad.mit.edu	37	1	177250432	177250432	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:177250432C>G	ENST00000361539.4	+	8	2432	c.2120C>G	c.(2119-2121)cCa>cGa	p.P707R	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		707						extracellular region		p.P707R(1)		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						TTGGACTACCCATATACTCAA	0.498000													56	158					0	0	0.003610	0	0
COL4A4	1286	broad.mit.edu	37	2	228004920	228004920	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:228004920C>A	ENST00000396625.3	-	4	356	c.149G>T	c.(148-150)aGa>aTa	p.R50I	COL4A4_ENST00000329662.7_Missense_Mutation_p.R50I	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	50	7S domain.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.R50I(1)		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)		AGAGCAATCTCTTCCTCCACA	0.413000													38	72					6.57855e-14	1.1053e-13	0.002222	1	0
MPPED2	744	broad.mit.edu	37	11	30516971	30516971	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:30516971G>A	ENST00000448418.2	-	4	768	c.408C>T	c.(406-408)taC>taT	p.Y136Y	MPPED2_ENST00000358117.5_Silent_p.Y136Y	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	136					nervous system development		hydrolase activity|metal ion binding	p.Y136Y(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						AGGGGAAACGGTAGTAGTCCT	0.403000													5	58					0	0	0.000602	0	0
SYNE2	23224	broad.mit.edu	37	14	64653253	64653253	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:64653253C>T	ENST00000357395.3	+	98	17967	c.6823C>T	c.(6823-6825)Caa>Taa	p.Q2275*	SYNE2_ENST00000394768.2_Nonsense_Mutation_p.Q2275*|SYNE2_ENST00000554584.1_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.Q5890*|SYNE2_ENST00000344113.4_Nonsense_Mutation_p.Q5890*|SYNE2_ENST00000555002.1_Nonsense_Mutation_p.Q2524*			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5890					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	p.Q5890*(1)		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)		TTTGAAGGAGCAAATAGAGCA	0.483000													14	140					0	0	0.003163	0	0
RYR2	6262	broad.mit.edu	37	1	237732489	237732489	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:237732489G>T	ENST00000366574.2	+	29	3785	c.3468G>T	c.(3466-3468)tgG>tgT	p.W1156C	RYR2_ENST00000360064.6_Missense_Mutation_p.W1154C|RYR2_ENST00000542537.1_Missense_Mutation_p.W1140C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1156	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.W1154C(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCGCTCTTGGCAAGCAGGCG	0.507000													6	54					8.12818e-05	0.000100244	0.001984	1	0
NYAP1	222950	broad.mit.edu	37	7	100085977	100085977	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:100085977G>A	ENST00000423930.1	+	4	792	c.633G>A	c.(631-633)caG>caA	p.Q211Q	NYAP1_ENST00000454988.1_Silent_p.Q154Q|NYAP1_ENST00000300179.2_Silent_p.Q211Q			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	211								p.Q211Q(1)									TGGGTGCCCAGGAAGAGCCTG	0.672000													6	95					0	0	0.001168	0	0
INPP5A	3632	broad.mit.edu	37	10	134463936	134463936	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:134463936G>T	ENST00000368594.3	+	4	510	c.233G>T	c.(232-234)aGt>aTt	p.S78I	INPP5A_ENST00000368593.3_Missense_Mutation_p.S78I	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	78					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	p.S78I(2)		cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		CTATTGTCGAGTGATGCGATG	0.507000													56	204					7.22619e-39	1.4435e-38	0.003610	1	0
GABRQ	55879	broad.mit.edu	37	X	151820193	151820193	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:151820193G>A	ENST00000370306.2	+	8	1126	c.1106G>A	c.(1105-1107)cGa>cAa	p.R369Q		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	369						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	p.R369Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAGACCCCGAAGAGTCATT	0.517000													12	61					0	0	0.000978	0	0
SIRPA	140885	broad.mit.edu	37	20	1903195	1903195	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:1903195T>A	ENST00000358771.4	+	4	1143	c.991T>A	c.(991-993)Tgc>Agc	p.C331S	SIRPA_ENST00000400068.3_Missense_Mutation_p.C331S|SIRPA_ENST00000356025.3_Missense_Mutation_p.C331S	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	331	Ig-like C1-type 2.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	p.C331S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GAAGCTCACCTGCCAGGTGGA	0.572000													8	62					0	0	0.008291	0	0
FAM135B	51059	broad.mit.edu	37	8	139158255	139158255	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:139158255C>A	ENST00000395297.1	-	15	3657	c.3487G>T	c.(3487-3489)Gaa>Taa	p.E1163*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1163								p.E1163*(4)		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)			AGCCCCAGTTCTATGAAAGTC	0.448000										HNSCC(54;0.14)			13	142					2.32078e-09	3.49909e-09	0.003163	1	0
PLA2G4F	255189	broad.mit.edu	37	15	42436333	42436333	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:42436333G>T	ENST00000397272.3	-	18	2082	c.1991C>A	c.(1990-1992)cCg>cAg	p.P664Q	PLA2G4F_ENST00000382396.4_Missense_Mutation_p.P662Q	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	662	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	p.P662Q(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GAAGGCGTCCGGGTGTGTGTC	0.572000													11	54					0.000673444	0.000799083	0.008291	1	0
CDRT1	374286	broad.mit.edu	37	17	15516139	15516139	+	Splice_Site	SNP	T	T	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:15516139T>G	ENST00000455584.2	-	11	1973		c.e11-2		CDRT1_ENST00000395906.3_Splice_Site														p.?(2)									ATAGGACCCCTGGaaaaacaa	0.388000													25	55					0	0	0.003330	0	0
COL11A1	1301	broad.mit.edu	37	1	103444661	103444661	+	Splice_Site	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:103444661C>G	ENST00000358392.2	-	33	2964		c.e33-1		COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000370096.3_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						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	p.?(2)		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)		CAGCTACTCCCTAGCAAAGAC	0.408000													4	31					0	0	0.000248	0	0
GCDH	2639	broad.mit.edu	37	19	13004356	13004356	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:13004356C>G	ENST00000222214.5	+	6	605	c.394C>G	c.(394-396)Cgg>Ggg	p.R132G	GCDH_ENST00000422947.2_Missense_Mutation_p.R88G|GCDH_ENST00000591470.1_Missense_Mutation_p.R132G|GCDH_ENST00000457854.1_Missense_Mutation_p.R132G			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	132					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding	p.R132G(2)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						AGAGCTGGAGCGGGTGGACAG	0.587000													14	58					0	0	0.002450	0	0
TAS1R1	80835	broad.mit.edu	37	1	6639186	6639186	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:6639186C>A	ENST00000333172.6	+	6	2261	c.2068C>A	c.(2068-2070)Cag>Aag	p.Q690K	TAS1R1_ENST00000351136.3_Missense_Mutation_p.Q436K|TAS1R1_ENST00000328191.4_3'UTR	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	690					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.Q690K(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CTCAGCGGCCCAGCTGCTTAT	0.537000													16	91					1.15088e-07	1.60948e-07	0.004007	1	0
KLHL32	114792	broad.mit.edu	37	6	97562151	97562151	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:97562151C>G	ENST00000369261.4	+	7	1483	c.1120C>G	c.(1120-1122)Cgc>Ggc	p.R374G	KLHL32_ENST00000536676.1_Missense_Mutation_p.R338G|KLHL32_ENST00000539200.1_Missense_Mutation_p.R305G|KLHL32_ENST00000544166.1_Intron	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	374								p.R374G(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CTATGACCCCCGCAGTAATTC	0.567000													15	28					0	0	0.002450	0	0
PROS1	5627	broad.mit.edu	37	3	93598149	93598149	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:93598149G>C	ENST00000394236.3	-	13	1818	c.1502C>G	c.(1501-1503)tCc>tGc	p.S501C	PROS1_ENST00000407433.1_Missense_Mutation_p.S370C	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	501	Laminin G-like 2.		S -> A (in PROS1D).|S -> P (variant Heerlen; could be associated with PROS1D).		leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CTCAGCACTGGATACATTATC	0.398000													4	187					0	0	0.001984	0	0
PHF21A	51317	broad.mit.edu	37	11	46105753	46105753	+	Silent	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:46105753T>A	ENST00000257821.4	-	3	641	c.18A>T	c.(16-18)ctA>ctT	p.L6L	PHF21A_ENST00000323180.6_Silent_p.L6L|PHF21A_ENST00000418153.2_Silent_p.L6L	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	6	Gln-rich.				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding	p.L6L(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						GAGCCTCCTGTAGAGTCTGCA	0.403000													12	28					0	0	0.000978	0	0
MCC	4163	broad.mit.edu	37	5	112437459	112437459	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:112437459C>A	ENST00000302475.4	-	6	1368	c.805G>T	c.(805-807)Gag>Tag	p.E269*	MCC_ENST00000515367.2_Nonsense_Mutation_p.E206*|MCC_ENST00000408903.3_Nonsense_Mutation_p.E459*|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	269					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	p.E459*(1)|p.E269*(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CGGTCCCGCTCTTCCCGGATG	0.602000													27	61					1.32003e-05	1.68948e-05	0.005443	1	0
DYNC2H1	79659	broad.mit.edu	37	11	103270477	103270477	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:103270477T>G	ENST00000375735.2	+	84	12387	c.12243T>G	c.(12241-12243)ttT>ttG	p.F4081L	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.F4088L|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	4081					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	p.F1521L(1)		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)		TTGAACAATTTAATGCTATTC	0.373000													20	59					0	0	0.001882	0	0
RFWD2	64326	broad.mit.edu	37	1	176105681	176105681	+	Silent	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:176105681T>C	ENST00000367669.3	-	7	1348	c.834A>G	c.(832-834)caA>caG	p.Q278Q	RFWD2_ENST00000308769.8_Intron	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	278					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.Q278Q(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCTGTTCCAGTTGCTGCAGAT	0.333000													9	25					0	0	0.008291	0	0
OR8B8	26493	broad.mit.edu	37	11	124310761	124310761	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:124310761G>T	ENST00000328064.2	-	1	293	c.221C>A	c.(220-222)tCc>tAc	p.S74Y		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S74F(2)|p.S74Y(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GATAACACTGGAATAGCAGAA	0.428000													25	67					4.87955e-14	8.20675e-14	0.005443	1	0
EIF4G1	1981	broad.mit.edu	37	3	184046479	184046479	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:184046479C>T	ENST00000342981.4	+	26	4431	c.4017C>T	c.(4015-4017)ctC>ctT	p.L1339L	EIF4G1_ENST00000414031.1_Silent_p.L1298L|EIF4G1_ENST00000424196.1_Silent_p.L1345L|EIF4G1_ENST00000346169.2_Silent_p.L1338L|EIF4G1_ENST00000435046.2_Silent_p.L1142L|EIF4G1_ENST00000441154.1_Silent_p.L1175L|EIF4G1_ENST00000382330.3_Silent_p.L1345L|EIF4G1_ENST00000392537.2_Silent_p.L1251L|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Silent_p.L1143L|EIF4G1_ENST00000427845.1_Silent_p.L1252L|EIF4G1_ENST00000319274.6_Silent_p.L1338L|EIF4G1_ENST00000352767.3_Silent_p.L1345L|EIF4G1_ENST00000350481.5_Silent_p.L1174L|EIF4G1_ENST00000411531.1_Silent_p.L1299L	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1338	MI.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.L1338L(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACGTGTGGCTCTACCTAGCGG	0.522000													46	141					0	0	0.002222	0	0
HIST1H3F	8968	broad.mit.edu	37	6	26250535	26250535	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:26250535T>A	ENST00000446824.2	-	1	300	c.299A>T	c.(298-300)tAc>tTc	p.Y100F		NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	100				Y -> T (in Ref. 7; CAB02546).	blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	p.Y100F(1)		lung(6)|urinary_tract(1)	7						CCCCACCAGGTAAGCCTCGCA	0.612000											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	119					0	0	0.001855	0	0
HELZ2	85441	broad.mit.edu	37	20	62199965	62199965	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:62199965C>A	ENST00000467148.1	-	5	1545	c.1476G>T	c.(1474-1476)caG>caT	p.Q492H		NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator									p.Q492H(1)									GCACCACCAGCTGCTCCTCAG	0.672000													3	22					0.004672	0.00538578	0.004672	1	0
CCDC50	152137	broad.mit.edu	37	3	191075856	191075856	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:191075856A>G	ENST00000392455.3	+	3	780	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	CCDC50_ENST00000392456.3_Missense_Mutation_p.Q61R	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	61						cytoplasm	protein binding	p.Q61R(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		GTGGCTAAGCAGCTCCAAGAG	0.512000													22	158					0	0	0.001882	0	0
PSD	5662	broad.mit.edu	37	10	104170620	104170620	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:104170620G>T	ENST00000020673.5	-	10	2612	c.2086C>A	c.(2086-2088)Ctc>Atc	p.L696I	PSD_ENST00000406432.1_Missense_Mutation_p.L696I	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	696	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	p.L481I(1)|p.L696I(1)		breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCCACCTTGAGCAGCTCCCTA	0.657000													13	71					6.72482e-11	1.05612e-10	0.003163	1	0
HKDC1	80201	broad.mit.edu	37	10	71025520	71025520	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:71025520A>T	ENST00000354624.5	+	17	2685	c.2552A>T	c.(2551-2553)gAg>gTg	p.E851V	RP11-227H15.5_ENST00000413220.1_RNA	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	851					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	p.E851V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CAGGGGCTAGAGCACCTGAGG	0.662000													6	25					0	0	0.001168	0	0
KRT82	3888	broad.mit.edu	37	12	52799789	52799789	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:52799789G>A	ENST00000257974.2	-	1	350	c.273C>T	c.(271-273)tgC>tgT	p.C91C		NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	91	Head.					keratin filament	protein binding|structural constituent of epidermis	p.C91C(1)		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)		CAGGGGTGATGCAGGCAGAAG	0.617000													30	49					0	0	0.001786	0	0
SETX	23064	broad.mit.edu	37	9	135204107	135204107	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:135204107T>A	ENST00000372169.2	-	10	3060	c.2878A>T	c.(2878-2880)Aga>Tga	p.R960*	SETX_ENST00000393220.1_Nonsense_Mutation_p.R960*|SETX_ENST00000224140.5_Nonsense_Mutation_p.R960*			Q7Z333	SETX_HUMAN	senataxin	960					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	p.R960*(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TGAAGGTCTCTGTCTATCTGA	0.413000													8	93					0	0	0.003080	0	0
TYR	7299	broad.mit.edu	37	11	89018021	89018021	+	Missense_Mutation	SNP	G	G	T	rs61754393		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:89018021G>T	ENST00000263321.5	+	4	1767	c.1265G>T	c.(1264-1266)cGg>cTg	p.R422L		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	422			R -> Q (in OCA1A and OCA1B; temperature sensitive variant).		eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	p.R422L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	GGACATAACCGGGAATCCTAC	0.413000													28	95					8.58068e-18	1.54155e-17	0.007291	1	0
ORC5	5001	broad.mit.edu	37	7	103808843	103808843	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:103808843C>T	ENST00000447452.2	-	9	1007	c.955G>A	c.(955-957)Gag>Aag	p.E319K	ORC5_ENST00000297431.4_Intron|ORC5_ENST00000545943.1_Intron	NM_181747.3	NP_859531.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	0					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding	p.E319K(1)		kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						ACTGAATGCTCTTTAGTATTA	0.318000													4	57					0	0	0.000248	0	0
FOLH1	2346	broad.mit.edu	37	11	49229960	49229960	+	Translation_Start_Site	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:49229960A>T	ENST00000256999.2	-	1	262	c.2T>A	c.(1-3)aTg>aAg	p.M1K	FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000340334.7_5'UTR|FOLH1_ENST00000356696.3_Start_Codon_SNP_p.M1K	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	1					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.M1K(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GAGATTCCACATCTCGGCGCG	0.692000													3	10					0	0	0.000248	0	0
FAM160A2	84067	broad.mit.edu	37	11	6232933	6232933	+	Missense_Mutation	SNP	G	G	A	rs139429864		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:6232933G>A	ENST00000265978.4	-	12	3122	c.2764C>T	c.(2764-2766)Cgg>Tgg	p.R922W	FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000449352.2_Missense_Mutation_p.R908W	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	908					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	p.R922W(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCCCCGCCCCGGGTGAGTAGA	0.597000													15	85					0	0	0.003163	0	0
HTR1E	3354	broad.mit.edu	37	6	87725964	87725964	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:87725964G>T	ENST00000305344.4	+	2	1615	c.912G>T	c.(910-912)tgG>tgT	p.W304C	HTR1E_ENST00000369584.1_Missense_Mutation_p.W304C	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	304					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.W304C(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TTTTATCCTGGCTGCCATTTT	0.512000													19	204					8.34094e-07	1.12752e-06	0.008871	1	0
TEX10	54881	broad.mit.edu	37	9	103084051	103084051	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:103084051G>A	ENST00000374902.4	-	10	2158	c.1982C>T	c.(1981-1983)tCa>tTa	p.S661L	TEX10_ENST00000535814.1_Missense_Mutation_p.S664L	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	661						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	p.S661L(1)		NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		AGAAAATGATGATCTATAAAA	0.363000													6	83					0	0	0.003080	0	0
NUP35	129401	broad.mit.edu	37	2	183993024	183993024	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:183993024C>T	ENST00000295119.4	+	2	153	c.50C>T	c.(49-51)cCa>cTa	p.P17L	NUP35_ENST00000409798.1_5'UTR|NUP35_ENST00000497330.1_3'UTR|NUP35_ENST00000541912.1_5'UTR	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	17					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane		p.P17L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						GGATCTGAACCAATGATGCTG	0.388000													4	53					0	0	0.000602	0	0
OR8J3	81168	broad.mit.edu	37	11	55905109	55905109	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:55905109A>T	ENST00000301529.1	-	1	85	c.86T>A	c.(85-87)cTg>cAg	p.L29Q		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L29Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TAGGAAGACCAGGAAGAGGGG	0.493000													18	181					0	0	0.004990	0	0
USH2A	7399	broad.mit.edu	37	1	215990499	215990499	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:215990499T>C	ENST00000366943.2	-	48	9796	c.9410A>G	c.(9409-9411)aAt>aGt	p.N3137S	USH2A_ENST00000307340.3_Missense_Mutation_p.N3137S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3137	Fibronectin type-III 18.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AATGATGCCATTTGGCTTCCG	0.398000										HNSCC(13;0.011)			3	109					0	0	0.004672	0	0
MYH15	22989	broad.mit.edu	37	3	108189605	108189605	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:108189605G>T	ENST00000273353.3	-	14	1439	c.1383C>A	c.(1381-1383)gcC>gcA	p.A461A		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	461	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.A461A(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTGACAGCTTGGCATCCAGGG	0.448000													10	43					4.68919e-08	6.70461e-08	0.008291	1	0
LMNB2	84823	broad.mit.edu	37	19	2444466	2444466	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:2444466C>G	ENST00000325327.3	-	2	399	c.337G>C	c.(337-339)Gag>Cag	p.E113Q	LMNB2_ENST00000582871.1_Missense_Mutation_p.E93Q			Q03252	LMNB2_HUMAN	lamin B2	93	Coil 1B.|Rod.					nuclear inner membrane	structural molecule activity	p.E93Q(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		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)		CGGGCACGCTCTCGAGCCGTC	0.627000													6	47					0	0	0.001168	0	0
OLFM4	10562	broad.mit.edu	37	13	53608516	53608516	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:53608516C>T	ENST00000219022.2	+	2	316	c.238C>T	c.(238-240)Cgt>Tgt	p.R80C		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	80					cell adhesion	extracellular space		p.R80C(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		CGTGGATGACCGTGGGACCTG	0.478000													8	90					0	0	0.004482	0	0
HOOK1	51361	broad.mit.edu	37	1	60287598	60287598	+	Silent	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:60287598A>T	ENST00000371208.3	+	2	389	c.132A>T	c.(130-132)gcA>gcT	p.A44A	HOOK1_ENST00000395561.2_Silent_p.A2A|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	44	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	p.A44A(1)		biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TTGCCATGGCACAAGTTCTTC	0.403000													11	45					0	0	0.001855	0	0
HNF4A	3172	broad.mit.edu	37	20	43058194	43058194	+	Silent	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:43058194A>T	ENST00000316099.3	+	10	1403	c.1314A>T	c.(1312-1314)ccA>ccT	p.P438P	HNF4A_ENST00000457232.1_Silent_p.P406P|HNF4A_ENST00000415691.1_Silent_p.P428P	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	438					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.P438P(1)|p.P416P(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCTCACCGCCAGGTGGCTCAG	0.612000													41	116					0	0	0.002522	0	0
LRRC10	376132	broad.mit.edu	37	12	70004436	70004436	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:70004436G>T	ENST00000361484.3	-	1	506	c.183C>A	c.(181-183)gaC>gaA	p.D61E		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	61						nucleus		p.D61E(1)		large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TGAGGTGGTTGTCGCTCAGGT	0.587000													14	24					4.7546e-09	7.08496e-09	0.004007	1	0
RAPGEF4	11069	broad.mit.edu	37	2	173825890	173825890	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:173825890G>C	ENST00000264111.6	+	8	816	c.629G>C	c.(628-630)cGa>cCa	p.R210P	RAPGEF4_ENST00000540783.1_Missense_Mutation_p.R58P|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.R58P|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.R40P|RAPGEF4_ENST00000535187.1_5'UTR|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.R211P|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.R211P|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.R67P|RAPGEF4_ENST00000473043.1_3'UTR			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	211					blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	p.R211P(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			AAAATTTTACGAAATGCCATT	0.428000													8	186					0	0	0.008291	0	0
LPIN3	64900	broad.mit.edu	37	20	39984671	39984671	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:39984671G>A	ENST00000373257.3	+	14	1891	c.1800G>A	c.(1798-1800)caG>caA	p.Q600Q		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	600	C-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	p.Q600Q(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CCTCCGATCAGATCGTAAGTG	0.592000													6	74					0	0	0.001168	0	0
CCNA1	8900	broad.mit.edu	37	13	37012875	37012875	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:37012875G>T	ENST00000418263.1	+	5	1111	c.761G>T	c.(760-762)gGg>gTg	p.G254V	CCNA1_ENST00000255465.4_Missense_Mutation_p.G255V|CCNA1_ENST00000440264.1_Missense_Mutation_p.G211V|CCNA1_ENST00000449823.1_Missense_Mutation_p.G211V	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	255					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	p.G255V(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		GTGGAGGTTGGGGAAGAATAT	0.502000													8	57					1.26484e-09	1.91573e-09	0.003080	1	0
IGHV3-53	28420	broad.mit.edu	37	14	107048872	107048872	+	RNA	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:107048872T>A	ENST00000390627.2	-	0	368																											ATGTAGTTGCTACTGACGGTG	0.587000													30	110					0	0	0.002222	0	0
ZNF208	7757	broad.mit.edu	37	19	22155565	22155565	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:22155565G>T	ENST00000397126.4	-	4	2419	c.2271C>A	c.(2269-2271)gcC>gcA	p.A757A	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.A657A(2)|p.A757A(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACCACTTATAGGCTTTGCCAC	0.368000													19	28					3.83957e-06	5.03849e-06	0.002780	1	0
RARA	5914	broad.mit.edu	37	17	38510598	38510598	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:38510598G>A	ENST00000254066.5	+	7	1307	c.852G>A	c.(850-852)atG>atA	p.M284I	RARA_ENST00000420042.1_3'UTR|RARA_ENST00000425707.3_Missense_Mutation_p.M187I|RARA_ENST00000394081.3_Missense_Mutation_p.M279I|RARA_ENST00000394089.2_Missense_Mutation_p.M284I|RARA_ENST00000394086.3_Missense_Mutation_p.M300I	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	284	Ligand-binding.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.M284I(1)		breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AGGACACCATGACCTTCTCGG	0.632000			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL								6	49					0	0	0.001168	0	0
HFM1	164045	broad.mit.edu	37	1	91790257	91790257	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:91790257C>T	ENST00000370425.3	-	21	2500	c.2402G>A	c.(2401-2403)aGt>aAt	p.S801N	HFM1_ENST00000370424.3_Missense_Mutation_p.S480N|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.S33N	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	801	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.S801N(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTCTTTTCCACTGATTGTATA	0.289000													5	48					0	0	0.001168	0	0
TAF1L	138474	broad.mit.edu	37	9	32634689	32634689	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:32634689C>A	ENST00000242310.4	-	1	978	c.889G>T	c.(889-891)Gtg>Ttg	p.V297L	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	297					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.V297L(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GAGCATTCCACCTCCTGGATC	0.498000													56	149					3.37043e-27	6.47559e-27	0.003610	1	0
NEK5	341676	broad.mit.edu	37	13	52693477	52693477	+	Silent	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:52693477T>A	ENST00000355568.4	-	4	331	c.192A>T	c.(190-192)gtA>gtT	p.V64V		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	64	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity	p.V121V(1)|p.V64V(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TGAAGAAGGCTACAATGTTGG	0.303000													5	35					0	0	0.000602	0	0
SMAD3	4088	broad.mit.edu	37	15	67473677	67473677	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:67473677C>T	ENST00000327367.4	+	6	1067	c.757C>T	c.(757-759)Cca>Tca	p.P253S	SMAD3_ENST00000540846.2_Missense_Mutation_p.P148S|SMAD3_ENST00000537194.2_Missense_Mutation_p.P58S|SMAD3_ENST00000439724.3_Missense_Mutation_p.P209S	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	253	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	p.P209S(1)|p.P253S(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CGCCTCGCAGCCATCCATGAC	0.597000													4	37					0	0	0.000248	0	0
SPATA32	124783	broad.mit.edu	37	17	43333282	43333282	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:43333282C>T	ENST00000543122.1	-	6	985	c.204G>A	c.(202-204)acG>acA	p.T68T	MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|SPATA32_ENST00000331780.4_Silent_p.T89T|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA					spermatogenesis associated 32									p.T89T(1)									AGTTGGCTTCCGTGTCCAGCT	0.567000													42	111					0	0	0.002522	0	0
PCDH10	57575	broad.mit.edu	37	4	134073017	134073017	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:134073017C>A	ENST00000264360.4	+	1	2548	c.1722C>A	c.(1720-1722)atC>atA	p.I574I		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	574	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I574I(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCCCTGCCATCGTGGCGCCTC	0.677000													9	64					2.17888e-05	2.76524e-05	0.006214	1	0
NOD1	10392	broad.mit.edu	37	7	30490920	30490920	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:30490920G>T	ENST00000222823.4	-	6	2638	c.2113C>A	c.(2113-2115)Cgg>Agg	p.R705R		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	705					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	p.R705R(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						AGGGCCAGCCGCTTGGGGAAG	0.627000													28	111					3.73148e-12	6.0314e-12	0.007291	1	0
LOC101927958	101927958	broad.mit.edu	37	2	239140941	239140941	+	RNA	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:239140941G>C	ENST00000456601.1	+	0	617																											TTGAGAAGCAGAAAAGTGTTT	0.502000													17	103					0	0	0.006122	0	0
COL1A1	1277	broad.mit.edu	37	17	48263689	48263689	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:48263689C>T	ENST00000225964.5	-	49	4112	c.3994G>A	c.(3994-3996)Gat>Aat	p.D1332N		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1332	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	p.D1332N(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TGGAATCCATCGGTCATGCTC	0.572000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						6	108					0	0	0.001984	0	0
GUSB	2990	broad.mit.edu	37	7	65429376	65429376	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:65429376G>A	ENST00000304895.4	-	11	1853	c.1723C>T	c.(1723-1725)Caa>Taa	p.Q575*	GUSB_ENST00000345660.6_Nonsense_Mutation_p.Q524*|GUSB_ENST00000421103.1_Nonsense_Mutation_p.Q429*	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	575					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding	p.Q575*(1)		breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CTGCGTTTTTGATCCAGACCC	0.443000													12	87					0	0	0.000978	0	0
ERCC8	1161	broad.mit.edu	37	5	60195463	60195463	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:60195463C>A	ENST00000426742.2	-	9	969	c.535G>T	c.(535-537)Gtt>Ttt	p.V179F	ERCC8_ENST00000543101.1_Missense_Mutation_p.V84F|ERCC8_ENST00000265038.5_Missense_Mutation_p.V237F|ERCC8_ENST00000462279.1_5'UTR			Q13216	ERCC8_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 8	237					positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				CCTGATTCAACAGCTTGTGAC	0.318000													42	103					9.9191e-30	1.94171e-29	0.008740	1	0
AURKC	6795	broad.mit.edu	37	19	57744004	57744004	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:57744004G>A	ENST00000302804.7	+	4	577	c.391G>A	c.(391-393)Gag>Aag	p.E131K	AURKC_ENST00000599062.1_Missense_Mutation_p.E128K|AURKC_ENST00000415300.2_Missense_Mutation_p.E112K|AURKC_ENST00000448930.1_Missense_Mutation_p.E97K|AURKC_ENST00000598785.1_Missense_Mutation_p.E97K	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	131	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	p.E131K(1)|p.E97K(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		GCTCTACAAGGAGCTGCAGAA	0.537000													6	66					0	0	0.001168	0	0
SSX7	280658	broad.mit.edu	37	X	52677375	52677375	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:52677375G>A	ENST00000298181.5	-	6	560	c.402C>T	c.(400-402)aaC>aaT	p.N134N		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.N134N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					GTTTCCCATCGTTCTGTGAGC	0.468000													76	136					0	0	0.003610	0	0
RNF20	56254	broad.mit.edu	37	9	104319843	104319843	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:104319843G>C	ENST00000389120.3	+	16	2437	c.2347G>C	c.(2347-2349)Gag>Cag	p.E783Q		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	783					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.E783Q(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AGAGAAGGAGGAGCTGGCAGA	0.423000													5	41					0	0	0.000602	0	0
TOR3A	64222	broad.mit.edu	37	1	179054768	179054768	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:179054768G>A	ENST00000367627.3	+	3	1131	c.379G>A	c.(379-381)Gag>Aag	p.E127K	TOR3A_ENST00000352445.6_Missense_Mutation_p.E127K	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	127					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding	p.E127K(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						CTTAGGCTTAGAGTGGGACCT	0.542000													17	287					0	0	0.004990	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125405454	125405454	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:125405454G>C	ENST00000431078.1	+	13	2357	c.1993G>C	c.(1993-1995)Gag>Cag	p.E665Q		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	665	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.E665Q(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGAACAGCTGGAGGCCGTGAT	0.622000													3	12					0	0	0.004672	0	0
LAMB1	3912	broad.mit.edu	37	7	107605093	107605093	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:107605093G>T	ENST00000393561.1	-	12	1858	c.1674C>A	c.(1672-1674)caC>caA	p.H558Q	LAMB1_ENST00000222399.6_Missense_Mutation_p.H534Q|LAMB1_ENST00000393560.1_Missense_Mutation_p.H534Q			P07942	LAMB1_HUMAN	laminin, beta 1	534	Laminin IV type B.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.H534Q(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCCAATCATGTGAGGCCGGC	0.562000													19	58					1.56452e-12	2.54868e-12	0.007413	1	0
NELL1	4745	broad.mit.edu	37	11	21581833	21581833	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:21581833T>C	ENST00000298925.5	+	18	2122	c.1969T>C	c.(1969-1971)Tcc>Ccc	p.S657P	NELL1_ENST00000325319.5_Missense_Mutation_p.S572P|NELL1_ENST00000532434.1_Missense_Mutation_p.S582P|NELL1_ENST00000529218.1_Intron|NELL1_ENST00000357134.5_Missense_Mutation_p.S629P			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	629	VWFC 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.S629P(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CTCTGGGCCCTCCTGCTCTGG	0.547000													23	52					0	0	0.002299	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072298	17072298	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:17072298G>T	ENST00000359963.3	-	1	1402	c.1143C>A	c.(1141-1143)acC>acA	p.T381T		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	381					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.T381T(1)		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)				GCCCCTGGGTGGTGGCTCCCC	0.572000													16	88					1.02788e-11	1.64382e-11	0.004990	1	0
AKR1B15	441282	broad.mit.edu	37	7	134260654	134260654	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:134260654C>A	ENST00000457545.2	+	8	978	c.718C>A	c.(718-720)Ccc>Acc	p.P240T	AKR1B15_ENST00000423958.1_Missense_Mutation_p.P212T	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	240							oxidoreductase activity	p.P258T(1)|p.P240T(1)|p.P212T(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						GGCCTACAGCCCCCTGGGCTC	0.478000													8	77					0.000151284	0.000185337	0.001855	1	0
RBM19	9904	broad.mit.edu	37	12	114374902	114374902	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:114374902C>T	ENST00000545145.2	-	16	2056	c.1978G>A	c.(1978-1980)Ggc>Agc	p.G660S	RP11-780K2.1_ENST00000550206.1_RNA|RBM19_ENST00000261741.5_Missense_Mutation_p.G660S|RBM19_ENST00000392561.3_Missense_Mutation_p.G660S	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	660					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	p.G660S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GAGAAGACGCCAACTGGAGCC	0.542000													18	100					0	0	0.008871	0	0
EYS	346007	broad.mit.edu	37	6	66115229	66115229	+	Silent	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:66115229A>G	ENST00000503581.1	-	6	1431	c.894T>C	c.(892-894)tgT>tgC	p.C298C	EYS_ENST00000370621.3_Silent_p.C298C|EYS_ENST00000370616.2_Silent_p.C298C|EYS_ENST00000370618.3_Silent_p.C298C|EYS_ENST00000342421.5_Silent_p.C298C|EYS_ENST00000393380.2_Silent_p.C298C	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	298					response to stimulus|visual perception	extracellular region	calcium ion binding	p.C298C(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GCAGAGAAACACAAGGTTTTG	0.368000													25	195					0	0	0.004656	0	0
BCKDHB	594	broad.mit.edu	37	6	80878646	80878646	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:80878646G>T	ENST00000545529.1	+	5	560	c.532G>T	c.(532-534)Gga>Tga	p.G178*	BCKDHB_ENST00000356489.5_Nonsense_Mutation_p.G178*|BCKDHB_ENST00000320393.6_Nonsense_Mutation_p.G178*|BCKDHB_ENST00000369760.4_Nonsense_Mutation_p.G178*			P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	178					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding	p.G178*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		TTTTAACTGTGGAAGCCTCAC	0.498000													52	97					3.10996e-30	6.10951e-30	0.003610	1	0
CELSR3	1951	broad.mit.edu	37	3	48697225	48697225	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:48697225T>A	ENST00000544264.1	-	1	3123	c.2843A>T	c.(2842-2844)gAg>gTg	p.E948V	CELSR3_ENST00000164024.4_Missense_Mutation_p.E948V			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	948	Cadherin 6.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.E948V(1)		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)		GACCATCACCTCCACATAAGT	0.527000													24	76					0	0	0.003330	0	0
TBC1D26	353149	broad.mit.edu	37	17	15641674	15641674	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:15641674C>A	ENST00000437605.2	+	7	610	c.360C>A	c.(358-360)atC>atA	p.I120I	TBC1D26_ENST00000579428.1_Silent_p.I120I|ZNF286A_ENST00000413242.2_3'UTR|AC005324.6_ENST00000434017.1_RNA	NM_178571.4	NP_848666.2	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	120	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.I120I(1)		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)		TTGACAGAATCAAGTCCCAGA	0.502000													21	110					5.26018e-13	8.66259e-13	0.001882	1	0
SLITRK4	139065	broad.mit.edu	37	X	142718172	142718172	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:142718172C>G	ENST00000381779.4	-	2	978	c.753G>C	c.(751-753)agG>agC	p.R251S	SLITRK4_ENST00000338017.4_Missense_Mutation_p.R251S|SLITRK4_ENST00000356928.1_Missense_Mutation_p.R251S	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	251	LRRCT 1.					integral to membrane		p.R251S(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTTAAAAGCCTTCCATATA	0.443000													14	21					0	0	0.001855	0	0
SLC25A20	788	broad.mit.edu	37	3	48929495	48929495	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:48929495T>G	ENST00000319017.4	-	2	314	c.116A>C	c.(115-117)cAg>cCg	p.Q39P	SLC25A20_ENST00000430379.1_Missense_Mutation_p.Q39P|SLC25A20_ENST00000544097.1_5'UTR	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	39					carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity	p.Q39P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	TGGCTGTGTCTGCAGTCGGAC	0.502000													20	56					0	0	0.001882	0	0
RAG1	5896	broad.mit.edu	37	11	36596039	36596039	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:36596039C>A	ENST00000299440.5	+	2	1297	c.1185C>A	c.(1183-1185)ccC>ccA	p.P395P		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	395					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	p.P395P(1)		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)				GGGGCCGGCCCCGCCAACATC	0.483000									Familial Hemophagocytic Lymphohistiocytosis				26	53					1.50538e-07	2.10348e-07	0.006320	1	0
NFKBIZ	64332	broad.mit.edu	37	3	101574011	101574011	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:101574011C>G	ENST00000326172.5	+	7	1664	c.1549C>G	c.(1549-1551)Ctg>Gtg	p.L517V	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.L395V|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.L417V	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	517	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.L517V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						AAGAACACCTCTGCATGTGTG	0.537000													4	70					0	0	0.000602	0	0
ARPC4	10093	broad.mit.edu	37	3	9839447	9839447	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:9839447G>A	ENST00000397261.3	+	2	672	c.108G>A	c.(106-108)ccG>ccA	p.P36P	ARPC4_ENST00000433034.1_Silent_p.P55P|ARPC4_ENST00000287613.7_5'UTR|ARPC4_ENST00000498623.2_5'UTR|ARPC4-TTLL3_ENST00000397256.1_Silent_p.P36P	NM_005718.4	NP_005709.1			actin related protein 2/3 complex, subunit 4, 20kDa									p.P36P(1)		breast(1)|lung(1)	2	Medulloblastoma(99;0.227)					ACAACAAGCCGGAAGTGGAAG	0.582000													5	39					0	0	0.000602	0	0
NOTCH4	4855	broad.mit.edu	37	6	32163899	32163899	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:32163899C>T	ENST00000375023.3	-	30	5465	c.5327G>A	c.(5326-5328)cGg>cAg	p.R1776Q	NOTCH4_ENST00000443903.2_Silent_p.A152A	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1776					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.R1776Q(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CGCTCCTTCCCGCGCCGCCAG	0.672000													4	8					0	0	0.000248	0	0
PRSS16	10279	broad.mit.edu	37	6	27222785	27222785	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:27222785G>C	ENST00000230582.3	+	11	1366	c.1351G>C	c.(1351-1353)Gtg>Ctg	p.V451L	PRSS16_ENST00000421826.2_Missense_Mutation_p.V194L|PRSS16_ENST00000377456.2_3'UTR	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	451					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	p.V451L(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCCCTGGCATGTGCTAAGTGT	0.547000													50	191					0	0	0.003610	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140764644	140764644	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:140764644G>T	ENST00000518325.1	+	1	2178	c.2178G>T	c.(2176-2178)caG>caT	p.Q726H	PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018920.2	NP_061743.1												p.Q726H(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGCTGCAGGCTTCAGAAG	0.632000													12	45					2.27111e-07	3.14695e-07	0.001368	1	0
TMEM176B	28959	broad.mit.edu	37	7	150490383	150490383	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:150490383G>A	ENST00000447204.2	-	5	765	c.393C>T	c.(391-393)ctC>ctT	p.L131L	TMEM176B_ENST00000450753.2_Silent_p.L94L|TMEM176B_ENST00000326442.5_Silent_p.L131L|TMEM176B_ENST00000429904.2_Silent_p.L131L|TMEM176B_ENST00000434545.1_Silent_p.L131L|TMEM176B_ENST00000492607.1_Silent_p.L131L	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	131					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane		p.L131L(1)		cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGCCAGGGTGAGCAGGCTGG	0.517000													13	26					0	0	0.002450	0	0
TENM3	55714	broad.mit.edu	37	4	183676381	183676381	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:183676381A>G	ENST00000511685.1	+	22	4984	c.4861A>G	c.(4861-4863)Agt>Ggt	p.S1621G	TENM3_ENST00000406950.2_Missense_Mutation_p.S1621G|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3									p.S1621G(1)									AGCCACTAAAAGTGATGAAAC	0.313000													3	33					0	0	0.004672	0	0
CUBN	8029	broad.mit.edu	37	10	16990513	16990513	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:16990513C>T	ENST00000377833.4	-	35	5238	c.5173G>A	c.(5173-5175)Ggg>Agg	p.G1725R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1725	CUB 11.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.G1725R(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGAAACCCCCAGCACTGATG	0.512000													7	43					0	0	0.001984	0	0
KCND2	3751	broad.mit.edu	37	7	119915076	119915076	+	Silent	SNP	C	C	T	rs138118192	by1000genomes	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:119915076C>T	ENST00000331113.4	+	1	1355	c.390C>T	c.(388-390)ggC>ggT	p.G130G		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	130					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	p.G130G(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					AAATCATCGGCGACTGCTGTT	0.587000													22	208					0	0	0.002299	0	0
SLC43A3	29015	broad.mit.edu	37	11	57177518	57177518	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:57177518G>A	ENST00000395123.2	-	12	1441	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F	SLC43A3_ENST00000352187.1_Silent_p.F379F|SLC43A3_ENST00000529554.1_Silent_p.F379F|SLC43A3_ENST00000533524.1_Silent_p.F392F|RP11-872D17.8_ENST00000529411.1_Silent_p.F23F|SLC43A3_ENST00000395124.1_Silent_p.F379F	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	379					transmembrane transport	integral to membrane		p.F379F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CACAGAGGGCGAAGCCCAGGC	0.617000													4	53					0	0	0.000248	0	0
C3orf35	339883	broad.mit.edu	37	3	37458935	37458935	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:37458935G>T	ENST00000328376.5	+	5	1157	c.178G>T	c.(178-180)Ggc>Tgc	p.G60C	C3orf35_ENST00000425932.1_Missense_Mutation_p.G60C|C3orf35_ENST00000481400.1_Intron|C3orf35_ENST00000425564.2_Missense_Mutation_p.G60C|C3orf35_ENST00000426078.1_Missense_Mutation_p.G60C|C3orf35_ENST00000452017.2_Missense_Mutation_p.G60C	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN	chromosome 3 open reading frame 35	60						integral to membrane		p.G60C(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GGGCCTGCAGGGCAGTGCTCA	0.463000													13	52					6.31663e-08	8.98509e-08	0.003163	1	0
TGFB1I1	7041	broad.mit.edu	37	16	31485036	31485036	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:31485036G>A	ENST00000394863.3	+	3	293	c.163G>A	c.(163-165)Gac>Aac	p.D55N	TGFB1I1_ENST00000567607.1_Missense_Mutation_p.D38N|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.D38N|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.D38N	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	55	Interaction with PTK2B.|Transcription activation (By similarity).				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding	p.D55N(1)|p.D38N(1)		lung(8)|upper_aerodigestive_tract(1)	9						AGCCTCGGGGGACAAGGACCA	0.637000													8	103					0	0	0.003080	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744859	70744859	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:70744859G>T	ENST00000260126.3	-	2	756	c.50C>A	c.(49-51)gCg>gAg	p.A17E	SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.A17E|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.A17E	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	17						integral to membrane|plasma membrane	transporter activity	p.A17E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AGTGGCCGGCGCCTCCAGCTG	0.632000											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	48					8.10497e-08	1.14895e-07	0.001523	1	0
TCEB3B	51224	broad.mit.edu	37	18	44560667	44560667	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:44560667C>T	ENST00000332567.4	-	1	1321	c.969G>A	c.(967-969)cgG>cgA	p.R323R	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	323					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	p.R323R(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTCCTGGGTCCCGGCCGTCTA	0.612000													36	103					0	0	0.003271	0	0
CADPS	8618	broad.mit.edu	37	3	62478014	62478014	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:62478014C>A	ENST00000383710.4	-	20	3184	c.2835G>T	c.(2833-2835)tgG>tgT	p.W945C	CADPS_ENST00000283269.9_Missense_Mutation_p.W955C|CADPS_ENST00000357948.3_Missense_Mutation_p.W915C	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	945	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.W945C(1)|p.W955C(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GAAAACTGTCCCATGTGTCTG	0.453000													106	266					1.94071e-40	3.8861e-40	0.003610	1	0
RGPD4	285190	broad.mit.edu	37	2	108488503	108488503	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:108488503C>G	ENST00000408999.3	+	20	4120	c.4043C>G	c.(4042-4044)tCc>tGc	p.S1348C	RGPD4_ENST00000354986.4_Missense_Mutation_p.S1348C	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1348	RanBD1 2.				intracellular transport		binding	p.S1348C(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GTTGAAGTATCCAGTGGTGAG	0.393000													29	362					0	0	0.002836	0	0
A4GNT	51146	broad.mit.edu	37	3	137850009	137850009	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:137850009G>T	ENST00000236709.3	-	2	291	c.90C>A	c.(88-90)ctC>ctA	p.L30L		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	30					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity	p.L30L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						GCAAACAGAAGAGGCAGCTGG	0.557000													27	61					2.65835e-16	4.67959e-16	0.007291	1	0
RBM24	221662	broad.mit.edu	37	6	17292055	17292055	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:17292055C>A	ENST00000379052.5	+	4	652	c.416C>A	c.(415-417)cCg>cAg	p.P139Q	RBM24_ENST00000318204.5_Missense_Mutation_p.P94Q|RBM24_ENST00000425446.2_Missense_Mutation_p.P81Q|RBM24_ENST00000508508.1_3'UTR	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	139					cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding	p.P94Q(1)|p.P139Q(1)		endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			CACGTCCAGCCGACAGCAGCT	0.577000													41	120					1.32136e-16	2.33843e-16	0.008740	1	0
OR8B3	390271	broad.mit.edu	37	11	124266395	124266395	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:124266395T>A	ENST00000354597.3	-	1	869	c.853A>T	c.(853-855)Aat>Tat	p.N285Y		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N285Y(1)		kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ATGAGAGGATTGAGCATGGGC	0.373000													35	132					0	0	0.003755	0	0
ABCF3	55324	broad.mit.edu	37	3	183907380	183907380	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:183907380C>A	ENST00000429586.2	+	13	1334	c.1149C>A	c.(1147-1149)gaC>gaA	p.D383E	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.D377E	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	383	ABC transporter 1.						ATP binding|ATPase activity	p.D383E(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTCCCACGACCGCAACTTCT	0.587000													6	51					5.9392e-07	8.08784e-07	0.001168	1	0
TTN	7273	broad.mit.edu	37	2	179411856	179411856	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:179411856A>T	ENST00000589042.1	-	340	94620	c.94396T>A	c.(94396-94398)Tgc>Agc	p.C31466S	TTN_ENST00000359218.5_Missense_Mutation_p.C22526S|TTN_ENST00000342175.6_Missense_Mutation_p.C22593S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.C29825S|TTN_ENST00000342992.6_Missense_Mutation_p.C28898S|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.C22401S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29825	Ig-like 140.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.C22526R(1)|p.C22526S(1)|p.C28898S(1)|p.C28896S(1)|p.C28896R(1)|p.C22593S(1)|p.C22593R(1)|p.C28898R(1)|p.C22401S(1)|p.C22401R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTAGTTGCACTCTAAGCAT	0.423000													45	436					0	0	0.003610	0	0
NTF3	4908	broad.mit.edu	37	12	5603685	5603685	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:5603685C>A	ENST00000423158.3	+	2	556	c.344C>A	c.(343-345)cCg>cAg	p.P115Q	NTF3_ENST00000331010.6_Missense_Mutation_p.P102Q|NTF3_ENST00000535299.1_Intron	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	102					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	p.P102Q(1)|p.P102L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						TACAACTCACCGCGGGTCCTG	0.642000													31	52					0.000409698	0.000492825	0.002445	1	0
PTCD1	26024	broad.mit.edu	37	7	99022694	99022694	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:99022694G>C	ENST00000292478.4	-	6	1711	c.1461C>G	c.(1459-1461)atC>atG	p.I487M	PTCD1_ENST00000555673.1_Missense_Mutation_p.I536M|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.I536M	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1									p.I487I(1)|p.I487M(1)		endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TGAGGGTCCTGATGTCGGGCT	0.647000													4	95					0	0	0.000602	0	0
CXCR2	3579	broad.mit.edu	37	2	219000010	219000010	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:219000010C>T	ENST00000318507.2	+	3	913	c.486C>T	c.(484-486)gtC>gtT	p.V162V		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	162					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	p.V162V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GCTACTTGGTCAAATTCATAT	0.532000													25	42					0	0	0.002780	0	0
CDH12	1010	broad.mit.edu	37	5	21975201	21975201	+	Splice_Site	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:21975201C>A	ENST00000382254.1	-	6	1611	c.526_splice	c.e6+1	p.V175_splice	CDH12_ENST00000522262.1_Splice_Site_p.V175_splice|CDH12_ENST00000504376.2_Splice_Site_p.V175_splice	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	175	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V175V(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CCTACTCACCCACAGGAGACA	0.358000										HNSCC(59;0.17)			57	116					4.83677e-39	9.67355e-39	0.003610	1	0
PRSS57	400668	broad.mit.edu	37	19	694911	694911	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:694911A>T	ENST00000329267.7	-	2	168	c.139T>A	c.(139-141)Tac>Aac	p.Y47N		NM_214710.3	NP_999875.1	Q6UWY2	PRS57_HUMAN	protease, serine, 57	47	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.Y47N(1)		central_nervous_system(1)|lung(5)	6						GATGCCATGTAGGGCCTGGAG	0.701000													4	11					0	0	0.000248	0	0
TP53	7157	broad.mit.edu	37	17	7577096	7577096	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:7577096T>A	ENST00000420246.2	-	8	974	c.842A>T	c.(841-843)gAc>gTc	p.D281V	TP53_ENST00000359597.4_Missense_Mutation_p.D281V|TP53_ENST00000269305.4_Missense_Mutation_p.D281V|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.D281V|TP53_ENST00000445888.2_Missense_Mutation_p.D281V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	281	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (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.D281G(10)|p.0?(8)|p.D281V(5)|p.?(2)|p.D281fs*63(2)|p.R280_D281delRD(2)|p.D281A(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		TGTGCGCCGGTCTCTCCCAGG	0.552000		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)			10	29					0	0	0.008291	0	0
DNAH11	8701	broad.mit.edu	37	7	21640486	21640486	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:21640486G>T	ENST00000328843.6	+	16	3224	c.3193G>T	c.(3193-3195)Gat>Tat	p.D1065Y	DNAH11_ENST00000409508.3_Missense_Mutation_p.D1065Y			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1065	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D1065Y(1)		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						CGATGAAATGGATGCTCATGC	0.438000									Kartagener syndrome				62	187					1.1362e-29	2.22154e-29	0.003610	1	0
CAB39L	81617	broad.mit.edu	37	13	49951249	49951249	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:49951249T>C	ENST00000355854.4	-	3	627	c.130A>G	c.(130-132)Aaa>Gaa	p.K44E	CAB39L_ENST00000410043.1_Missense_Mutation_p.K44E|CAB39L_ENST00000409308.1_Missense_Mutation_p.K44E|CAB39L_ENST00000347776.5_Missense_Mutation_p.K44E	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	44					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding	p.K44E(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		TGCAGTGATTTAGACACTTCT	0.393000													15	62					0	0	0.003163	0	0
MUC2	4583	broad.mit.edu	37	11	1088725	1088725	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:1088725C>G	ENST00000441003.2	+	26	3537	c.3510C>G	c.(3508-3510)gaC>gaG	p.D1170E	MUC2_ENST00000359061.5_Missense_Mutation_p.D1170E	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1170						inner mucus layer|outer mucus layer	protein binding	p.D1170E(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCCCCAAGGACAGGCCCATCT	0.622000													5	14					0	0	0.001168	0	0
OXSM	54995	broad.mit.edu	37	3	25832986	25832986	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:25832986G>T	ENST00000280701.3	+	2	574	c.475G>T	c.(475-477)Gtt>Ttt	p.V159F	OXSM_ENST00000449808.1_Intron|OXSM_ENST00000420173.2_Missense_Mutation_p.V159F	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	159					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	p.V159F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TCCTCTTGAAGTTGTTTCTGA	0.428000													9	120					7.48243e-07	1.01312e-06	0.006214	1	0
ROS1	6098	broad.mit.edu	37	6	117706999	117706999	+	Silent	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:117706999G>C	ENST00000368508.3	-	15	2349	c.2151C>G	c.(2149-2151)ctC>ctG	p.L717L	ROS1_ENST00000368507.3_Silent_p.L712L|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	717					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.L717L(2)	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)		CACTGTAGTAGAGGCTGTTGT	0.403000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								11	73					0	0	0.008291	0	0
EPHA7	2045	broad.mit.edu	37	6	93967841	93967841	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:93967841G>T	ENST00000369303.4	-	11	2270	c.2086C>A	c.(2086-2088)Cat>Aat	p.H696N		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	696	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.H696N(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CCTTCCAAATGGACAACATTC	0.353000													16	84					3.41278e-10	5.28472e-10	0.004990	1	0
LYST	1130	broad.mit.edu	37	1	235945360	235945360	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:235945360C>A	ENST00000389794.3	-	15	5064	c.4890G>T	c.(4888-4890)atG>atT	p.M1630I	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.M1630I			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1630					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	p.M1630I(1)		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)			TTCTTGGAAGCATAAAATCCA	0.318000													14	30					1.49906e-05	1.90978e-05	0.002450	1	0
ZNF268	10795	broad.mit.edu	37	12	133768558	133768558	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:133768558G>T	ENST00000542711.2	+	3	326	c.98G>T	c.(97-99)tGc>tTc	p.C33F	ZNF268_ENST00000228289.5_Silent_p.V142V|CTD-2140B24.4_ENST00000540096.2_Silent_p.V307V|ZNF268_ENST00000592241.1_Silent_p.V75V|ZNF268_ENST00000542986.2_Silent_p.V127V|ZNF268_ENST00000416488.1_Silent_p.V307V|ZNF268_ENST00000537565.1_Intron|ZNF268_ENST00000541211.2_Missense_Mutation_p.C100F|ZNF268_ENST00000536435.2_Silent_p.V142V|ZNF268_ENST00000541009.2_Silent_p.V142V|ZNF268_ENST00000539248.2_Intron|ZNF268_ENST00000536899.2_Intron	NM_001165886.1	NP_001159358.1	Q14587	ZN268_HUMAN	zinc finger protein 268	0						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V142V(1)		NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TGTGTATGGTGCAGGCCCAAG	0.398000													40	96					2.27781e-18	4.10996e-18	0.003610	1	0
PRSS35	167681	broad.mit.edu	37	6	84233730	84233730	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:84233730G>C	ENST00000536636.1	+	3	915	c.570G>C	c.(568-570)aaG>aaC	p.K190N	PRSS35_ENST00000369700.3_Missense_Mutation_p.K190N	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	190	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.K190N(1)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GGTTGTTGAAGATGAGGAATA	0.473000													39	66					0	0	0.006999	0	0
KIF7	374654	broad.mit.edu	37	15	90172699	90172699	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:90172699G>T	ENST00000394412.3	-	17	3500	c.3424C>A	c.(3424-3426)Ctg>Atg	p.L1142M		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1142					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	p.L629M(1)|p.L1142M(1)		central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TGCCGCTCCAGGGCCACCTCC	0.637000													15	38					8.60227e-14	1.44095e-13	0.004007	1	0
SPAM1	6677	broad.mit.edu	37	7	123594379	123594379	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:123594379T>G	ENST00000340011.5	+	3	1112	c.755T>G	c.(754-756)tTg>tGg	p.L252W	SPAM1_ENST00000402183.2_Missense_Mutation_p.L252W|SPAM1_ENST00000439500.1_Missense_Mutation_p.L252W|SPAM1_ENST00000460182.1_Missense_Mutation_p.L252W|SPAM1_ENST00000223028.7_Missense_Mutation_p.L252W	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	252					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.L252W(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	CTCAGCTGGTTGTGGAATGAA	0.413000													5	141					0	0	0.000602	0	0
PPFIA4	8497	broad.mit.edu	37	1	203008326	203008326	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:203008326G>T	ENST00000367240.2	+	2	717	c.190G>T	c.(190-192)Gag>Tag	p.E64*	PPFIA4_ENST00000295706.4_5'UTR|PPFIA4_ENST00000447715.2_Nonsense_Mutation_p.E64*			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	0					cell communication	cell surface|cytoplasm	protein binding	p.E211*(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						TGCCATACACGAGCGGGACCA	0.627000											OREG0014109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	11					1.23904e-05	1.58704e-05	0.000602	1	0
NCKAP5	344148	broad.mit.edu	37	2	133539711	133539711	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:133539711G>C	ENST00000409261.1	-	14	5046	c.4673C>G	c.(4672-4674)cCt>cGt	p.P1558R	NCKAP5_ENST00000317721.6_Missense_Mutation_p.P1558R|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1558							protein binding	p.P1558R(2)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTGTAGTTCAGGCTTCTTTTT	0.378000													12	160					0	0	0.000978	0	0
OR4K2	390431	broad.mit.edu	37	14	20345226	20345226	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:20345226C>G	ENST00000298642.2	+	1	836	c.800C>G	c.(799-801)aCa>aGa	p.T267R		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T267R(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGCTTTCTCACAGACAAGATT	0.398000													27	130					0	0	0.005443	0	0
TMED9	54732	broad.mit.edu	37	5	177019267	177019267	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:177019267C>T	ENST00000332598.6	+	1	109	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L		NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain containing 9	18					transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane		p.L18L(1)		endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGAACCGGGCTGGGTAGAGT	0.682000													4	7					0	0	0.000602	0	0
CTNNA2	1496	broad.mit.edu	37	2	80773070	80773070	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:80773070G>T	ENST00000466387.1	+	15	2146	c.1422G>T	c.(1420-1422)caG>caT	p.Q474H	CTNNA2_ENST00000496558.1_Missense_Mutation_p.Q474H|CTNNA2_ENST00000343114.3_Missense_Mutation_p.Q153H|CTNNA2_ENST00000361291.4_Missense_Mutation_p.Q508H|CTNNA2_ENST00000402739.4_Missense_Mutation_p.Q474H|CTNNA2_ENST00000540488.1_Missense_Mutation_p.Q474H|CTNNA2_ENST00000541047.1_Missense_Mutation_p.Q474H			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	474					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.Q474H(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CCCGGCCACAGAGCAAAGTTG	0.517000													7	32					0.00198382	0.00231911	0.001984	1	0
EMR2	30817	broad.mit.edu	37	19	14875407	14875407	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:14875407G>A	ENST00000315576.3	-	11	1373	c.922C>T	c.(922-924)Ctg>Ttg	p.L308L	EMR2_ENST00000392964.3_Silent_p.L47L|EMR2_ENST00000346057.1_Silent_p.L259L|EMR2_ENST00000594294.1_Silent_p.L259L|EMR2_ENST00000392965.3_Silent_p.L308L|EMR2_ENST00000353005.1_Silent_p.L166L|EMR2_ENST00000392967.2_Silent_p.L308L|EMR2_ENST00000353876.1_Silent_p.L215L|EMR2_ENST00000594076.1_Silent_p.L215L|EMR2_ENST00000601345.1_Silent_p.L308L|EMR2_ENST00000596991.2_Silent_p.L308L|EMR2_ENST00000595839.1_Silent_p.L166L	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	308					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.L308L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						AGCTCATCCAGCGCCTGTAAG	0.627000													9	15					0	0	0.006214	0	0
CRYM-AS1	400508	broad.mit.edu	37	16	21328462	21328462	+	RNA	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:21328462T>C	ENST00000444326.1	+	0	578																											GAAATTAACATTTTCTGAAAA	0.338000													6	39					0	0	0.001168	0	0
NLRP13	126204	broad.mit.edu	37	19	56424587	56424587	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:56424587T>A	ENST00000588751.1	-	5	620	c.596A>T	c.(595-597)aAa>aTa	p.K199I	NLRP13_ENST00000342929.3_Missense_Mutation_p.K199I			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	199							ATP binding	p.K199I(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TACGTGGTCTTTAGGCCAACT	0.483000													64	125					0	0	0.003610	0	0
ILVBL	10994	broad.mit.edu	37	19	15230306	15230306	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:15230306G>T	ENST00000263383.3	-	8	976	c.837C>A	c.(835-837)atC>atA	p.I279I	ILVBL_ENST00000534378.1_Silent_p.I172I|ILVBL_ENST00000531635.1_5'UTR	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	279						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	p.I279I(1)		NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CCCGGCTCAGGATCTCCACAC	0.562000													4	35					0.00024832	0.000300665	0.000248	1	0
SORCS3	22986	broad.mit.edu	37	10	106974285	106974285	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:106974285C>T	ENST00000369701.3	+	18	2688	c.2461C>T	c.(2461-2463)Cct>Tct	p.P821S	SORCS3_ENST00000369699.4_Missense_Mutation_p.P107S	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	821						integral to membrane	neuropeptide receptor activity	p.P821S(1)		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)		TGGAAAAGCCCCTCGGGGCCT	0.567000													12	45					0	0	0.001368	0	0
SORCS1	114815	broad.mit.edu	37	10	108447971	108447971	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:108447971C>T	ENST00000263054.6	-	10	1546	c.1539G>A	c.(1537-1539)ggG>ggA	p.G513G	SORCS1_ENST00000369698.1_Silent_p.G48G|SORCS1_ENST00000344440.6_Silent_p.G513G	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	513						integral to membrane	neuropeptide receptor activity|protein binding	p.G513G(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GCACGGGGTCCCCCCTTAGAT	0.488000													17	74					0	0	0.007413	0	0
MUC17	140453	broad.mit.edu	37	7	100676223	100676223	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:100676223G>A	ENST00000306151.4	+	3	1590	c.1526G>A	c.(1525-1527)gGa>gAa	p.G509E		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	509	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.G509E(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTAGTGAAGGAAGCACTCCA	0.502000													46	730					0	0	0.003610	0	0
DACT3	147906	broad.mit.edu	37	19	47151918	47151918	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:47151918C>A	ENST00000391916.2	-	4	1784	c.1711G>T	c.(1711-1713)Ggt>Tgt	p.G571C	DACT3_ENST00000300875.4_Missense_Mutation_p.G346C	NM_145056.2	NP_659493.2	Q96B18	DACT3_HUMAN	dishevelled-binding antagonist of beta-catenin 3	571								p.G571C(2)|p.G346C(1)		lung(1)	1		Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325)		ACGAGGCCACCGCTGCCGTCT	0.716000													28	54					9.80776e-20	1.78518e-19	0.006320	1	0
PTGR1	22949	broad.mit.edu	37	9	114359635	114359635	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:114359635T>G	ENST00000407693.2	-	2	330	c.68A>C	c.(67-69)gAg>gCg	p.E23A	PTGR1_ENST00000538962.1_Missense_Mutation_p.E23A|PTGR1_ENST00000309195.5_Missense_Mutation_p.E23A|PTGR1_ENST00000238248.3_5'UTR	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	23					leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding	p.E23A(1)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						TGTCTTCAACTCAAAGTCACT	0.403000													5	48					0	0	0.001168	0	0
ITGB3	3690	broad.mit.edu	37	17	45376867	45376867	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:45376867C>A	ENST00000560629.1	+	11	1849	c.1849C>A	c.(1849-1851)Cac>Aac	p.H617N	ITGB3_ENST00000435993.2_Silent_p.P581P|ITGB3_ENST00000559488.1_Silent_p.P628P			P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	0	Cysteine-rich tandem repeats.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	p.P581Q(1)|p.P628Q(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	AGAAGTGCCCCACCTGCCCAG	0.612000													11	51					0.00829132	0.00952497	0.008291	1	0
SLC3A2	6520	broad.mit.edu	37	11	62655812	62655812	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:62655812G>A	ENST00000377892.1	+	13	1857	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K	SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000535296.1_Missense_Mutation_p.E483K|SLC3A2_ENST00000338663.7_Missense_Mutation_p.E413K|SLC3A2_ENST00000377891.2_Missense_Mutation_p.E515K|SLC3A2_ENST00000377889.2_Missense_Mutation_p.E452K|SLC3A2_ENST00000377890.2_Missense_Mutation_p.E514K|SLC3A2_ENST00000536981.1_Missense_Mutation_p.E59K			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	514					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	p.E545K(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GGGCCAGAGTGAAGACCCTGG	0.587000													15	87					0	0	0.004007	0	0
ANK2	287	broad.mit.edu	37	4	114277294	114277294	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:114277294C>G	ENST00000357077.4	+	38	7573	c.7520C>G	c.(7519-7521)tCc>tGc	p.S2507C	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S2474C|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2474					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.S2507C(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCTGTGCGGTCCCGGCTACTC	0.537000													27	91					0	0	0.006320	0	0
PTK2B	2185	broad.mit.edu	37	8	27295394	27295394	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:27295394A>C	ENST00000397501.1	+	23	2448	c.1640A>C	c.(1639-1641)cAc>cCc	p.H547P	PTK2B_ENST00000397497.4_Missense_Mutation_p.H293P|PTK2B_ENST00000544172.1_Missense_Mutation_p.H547P|PTK2B_ENST00000346049.5_Missense_Mutation_p.H547P|PTK2B_ENST00000338238.4_Missense_Mutation_p.H547P|PTK2B_ENST00000517339.1_Missense_Mutation_p.H547P|PTK2B_ENST00000420218.2_Missense_Mutation_p.H547P	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	547	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	p.H547P(2)|p.H293P(1)		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)		AACTGCGTGCACAGGTAGGGG	0.587000													5	25					0	0	0.000602	0	0
NDST4	64579	broad.mit.edu	37	4	115767068	115767068	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:115767068C>A	ENST00000264363.2	-	10	2704	c.2026G>T	c.(2026-2028)Gct>Tct	p.A676S		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	676	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.A676S(1)		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)		CGTCTTGGAGCTTCTTCCGAA	0.458000													21	81					0.000132079	0.000162288	0.008871	1	0
FOCAD	54914	broad.mit.edu	37	9	20953055	20953055	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:20953055G>C	ENST00000380249.1	+	37	4487	c.4123G>C	c.(4123-4125)Gga>Cga	p.G1375R	FOCAD_ENST00000338382.6_Missense_Mutation_p.G1375R|FOCAD_ENST00000605086.1_Missense_Mutation_p.G811R	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1375						integral to membrane	binding	p.G1375R(2)									CATTACAGGAGGAAAAAAAGG	0.363000													9	45					0	0	0.008291	0	0
LTK	4058	broad.mit.edu	37	15	41797642	41797642	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:41797642C>G	ENST00000263800.6	-	14	1880	c.1784G>C	c.(1783-1785)gGa>gCa	p.G595A	LTK_ENST00000561619.1_Missense_Mutation_p.G293A|LTK_ENST00000453182.2_Missense_Mutation_p.G465A|LTK_ENST00000355166.5_Missense_Mutation_p.G534A	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	595	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.G595A(1)|p.G534A(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CATGTCCCCTCCAGACATCAG	0.597000										TSP Lung(18;0.14)			8	26					0	0	0.004482	0	0
FLT4	2324	broad.mit.edu	37	5	180048740	180048740	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:180048740G>A	ENST00000261937.6	-	13	1900	c.1822C>T	c.(1822-1824)Ctc>Ttc	p.L608F	FLT4_ENST00000393347.3_Missense_Mutation_p.L608F|FLT4_ENST00000502649.1_Missense_Mutation_p.L608F|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	608	Ig-like C2-type 6.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.L608F(2)|p.L418F(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TTGCAGTCGAGCAGAAGCGGG	0.657000													11	26					0	0	0.008291	0	0
ZSCAN31	64288	broad.mit.edu	37	6	28297162	28297162	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:28297162C>G	ENST00000414429.1	-	6	1202	c.299G>C	c.(298-300)cGg>cCg	p.R100P	ZSCAN31_ENST00000439158.1_Missense_Mutation_p.R100P|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.R100P|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.R100P|ZSCAN31_ENST00000446474.1_Intron					zinc finger and SCAN domain containing 31									p.R100L(1)|p.R100P(1)									ATGGTGCTCCCGCACCCAGGC	0.562000													112	176					0	0	0.003610	0	0
FASLG	356	broad.mit.edu	37	1	172628540	172628540	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:172628540C>A	ENST00000367721.2	+	1	383	c.199C>A	c.(199-201)Ccg>Acg	p.P67T	FASLG_ENST00000340030.3_Missense_Mutation_p.P67T	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	67	Pro-rich.				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity	p.P67T(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						gcctccactaccgctgccacc	0.622000													5	20					0.00116845	0.00137464	0.001168	1	0
QSOX1	5768	broad.mit.edu	37	1	180159623	180159623	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:180159623A>G	ENST00000367602.3	+	10	1270	c.1196A>G	c.(1195-1197)cAt>cGt	p.H399R	QSOX1_ENST00000367600.5_Missense_Mutation_p.H399R			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	399	ERV/ALR sulfhydryl oxidase.				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity	p.H399R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGTGAGCCGCATTTCCGGGGC	0.562000													71	122					0	0	0.003610	0	0
NOVA1	4857	broad.mit.edu	37	14	26917470	26917470	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:26917470C>A	ENST00000539517.2	-	5	1536	c.1219G>T	c.(1219-1221)Gcc>Tcc	p.A407S	NOVA1_ENST00000267422.7_Missense_Mutation_p.A285S|NOVA1_ENST00000465357.2_Missense_Mutation_p.A383S	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	410	Ala-rich.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	p.A407S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		ATGGCACTGGCAGCTAGGGGA	0.498000													22	40					1.10513e-12	1.80386e-12	0.002299	1	0
AVPR1B	553	broad.mit.edu	37	1	206224651	206224651	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:206224651C>A	ENST00000367126.4	+	1	676	c.211C>A	c.(211-213)Ctg>Atg	p.L71M		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	71					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.L71M(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCGCATGCACCTGTTCGTGCT	0.677000													26	40					1.17739e-12	1.91991e-12	0.005443	1	0
CALCRL	10203	broad.mit.edu	37	2	188250312	188250312	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:188250312T>C	ENST00000409998.1	-	5	792	c.11A>G	c.(10-12)aAg>aGg	p.K4R	CALCRL_ENST00000392370.3_Missense_Mutation_p.K4R|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.K4R			Q16602	CALRL_HUMAN	calcitonin receptor-like	4						integral to plasma membrane		p.K4R(1)		endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			CAGGGTACACTTTTTCTCCAT	0.264000													3	37					0	0	0.004672	0	0
NEB	4703	broad.mit.edu	37	2	152507313	152507313	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:152507313G>T	ENST00000427231.2	-	53	7204	c.7002C>A	c.(7000-7002)tcC>tcA	p.S2334S	NEB_ENST00000172853.10_Silent_p.S2334S|NEB_ENST00000409198.1_Silent_p.S2334S|NEB_ENST00000604864.1_Silent_p.S2334S|NEB_ENST00000603639.1_Silent_p.S2334S|NEB_ENST00000397345.3_Silent_p.S2334S	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2334					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	p.S2334S(2)		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)		CTACATTCATGGACAACACAA	0.433000													14	366					1.5842e-08	2.33136e-08	0.001855	1	0
GRIN2A	2903	broad.mit.edu	37	16	9943758	9943758	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:9943758A>T	ENST00000396573.2	-	6	1492	c.1183T>A	c.(1183-1185)Tcc>Acc	p.S395T	GRIN2A_ENST00000330684.3_Missense_Mutation_p.S395T|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S395T|GRIN2A_ENST00000562109.1_Missense_Mutation_p.S395T|GRIN2A_ENST00000404927.2_Missense_Mutation_p.S395T|GRIN2A_ENST00000535259.1_Missense_Mutation_p.S238T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	395					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	p.S395T(1)		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)	TCGGAGAAGGACTTGTACCTG	0.582000													6	74					0	0	0.001984	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25746826	25746826	+	RNA	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:25746826G>T	ENST00000586223.1	+	0	350					NR_033892.1																						AGCAGACACGGGGCCTAAAGC	0.577000													10	44					4.68919e-08	6.70461e-08	0.008291	1	0
F13B	2165	broad.mit.edu	37	1	197026458	197026458	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:197026458G>T	ENST00000367412.1	-	6	986	c.943C>A	c.(943-945)Cgt>Agt	p.R315S		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	315	Sushi 5.				blood coagulation	extracellular region		p.R315S(1)|p.R315C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TCTTCACAACGTATTTCTGCT	0.353000													32	142					3.90053e-15	6.73764e-15	0.002445	1	0
NALCN	259232	broad.mit.edu	37	13	101714351	101714351	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:101714351C>A	ENST00000251127.6	-	41	4805	c.4724G>T	c.(4723-4725)tGg>tTg	p.W1575L		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1575						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.W1575L(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTCTTGAGCCACATGCGGAT	0.622000													20	44					7.41877e-09	1.09761e-08	0.001882	1	0
MUC16	94025	broad.mit.edu	37	19	9059073	9059073	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:9059073G>T	ENST00000397910.4	-	3	28576	c.28373C>A	c.(28372-28374)tCc>tAc	p.S9458Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9460	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S9458Y(1)|p.S5091Y(1)		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						GACAGGAGAGGAGTGGCTACT	0.483000													33	87					2.46105e-21	4.54938e-21	0.002096	1	0
KIAA1211	57482	broad.mit.edu	37	4	57193889	57193889	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:57193889C>T	ENST00000504228.1	+	9	3726	c.3621C>T	c.(3619-3621)ccC>ccT	p.P1207P	KIAA1211_ENST00000541073.1_Silent_p.P1200P|KIAA1211_ENST00000264229.6_Silent_p.P1207P			Q6ZU35	K1211_HUMAN	KIAA1211	1207								p.P1207P(1)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					ATGCTGCCCCCGTGTCAACAG	0.527000													29	131					0	0	0.003755	0	0
TECPR2	9895	broad.mit.edu	37	14	102964478	102964478	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:102964478G>T	ENST00000359520.7	+	20	4346	c.4120G>T	c.(4120-4122)Ggc>Tgc	p.G1374C		NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1374							protein binding	p.G1374C(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GGGCCCGCCCGGCTACCTCCT	0.622000													25	55					6.38683e-12	1.02634e-11	0.008361	1	0
AKR1D1	6718	broad.mit.edu	37	7	137792305	137792305	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:137792305A>C	ENST00000242375.3	+	7	876	c.834A>C	c.(832-834)gaA>gaC	p.E278D	AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000411726.2_Missense_Mutation_p.E237D|AKR1D1_ENST00000432161.1_Missense_Mutation_p.E278D	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	278					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						TTAATCTTGAAAGGATCAAAG	0.358000													3	107					0	0	0.000248	0	0
RBM48	84060	broad.mit.edu	37	7	92164096	92164096	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:92164096A>G	ENST00000481551.1	+	4	870	c.829A>G	c.(829-831)Agg>Ggg	p.R277G	RBM48_ENST00000265732.5_Missense_Mutation_p.R277G			Q5RL73	CG064_HUMAN	RNA binding motif protein 48	277							nucleotide binding	p.R277G(1)									ATTTATGCCTAGGACAACACA	0.418000													8	40					0	0	0.003080	0	0
ZNF521	25925	broad.mit.edu	37	18	22806254	22806254	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:22806254C>A	ENST00000361524.3	-	4	1776	c.1628G>T	c.(1627-1629)cGa>cTa	p.R543L	ZNF521_ENST00000538137.2_Missense_Mutation_p.R543L|ZNF521_ENST00000584787.1_Missense_Mutation_p.R323L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	543					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.R543L(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGACCCAAATCGGGAGCCACT	0.433000			T	PAX5	ALL								14	87					2.31682e-05	2.93135e-05	0.003163	1	0
PLSCR4	57088	broad.mit.edu	37	3	145912942	145912942	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:145912942T>A	ENST00000354952.2	-	8	1154	c.914A>T	c.(913-915)aAa>aTa	p.K305I	PLSCR4_ENST00000446574.2_Missense_Mutation_p.K305I|PLSCR4_ENST00000493382.1_Missense_Mutation_p.K305I|PLSCR4_ENST00000383083.2_Missense_Mutation_p.K215I|PLSCR4_ENST00000433593.2_Missense_Mutation_p.K200I	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	305					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	p.K305I(1)		kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						AATCATGGCTTTCATCTTCAC	0.413000													14	43					0	0	0.001855	0	0
KDM4E	390245	broad.mit.edu	37	11	94759373	94759373	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:94759373C>G	ENST00000450979.2	+	1	952	c.652C>G	c.(652-654)Cag>Gag	p.Q218E		NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN	lysine (K)-specific demethylase 4E	218	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.Q218E(2)		breast(1)|endometrium(7)|kidney(1)|lung(3)	12						AGAACATGGTCAGCACCTGGA	0.577000													19	63					0	0	0.007413	0	0
LPHN3	23284	broad.mit.edu	37	4	62679563	62679563	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:62679563C>T	ENST00000512091.1	+	8	1979	c.1232C>T	c.(1231-1233)cCg>cTg	p.P411L	LPHN3_ENST00000545650.1_Missense_Mutation_p.P411L|LPHN3_ENST00000508693.1_Missense_Mutation_p.P479L|LPHN3_ENST00000509896.1_Missense_Mutation_p.P479L|LPHN3_ENST00000514996.1_Missense_Mutation_p.P411L|LPHN3_ENST00000506746.1_Missense_Mutation_p.P479L|LPHN3_ENST00000508946.1_Missense_Mutation_p.P411L|LPHN3_ENST00000506720.1_Missense_Mutation_p.P479L|LPHN3_ENST00000514591.1_Missense_Mutation_p.P411L|LPHN3_ENST00000514157.1_Missense_Mutation_p.P411L|LPHN3_ENST00000504896.1_Missense_Mutation_p.P411L|LPHN3_ENST00000507164.1_Missense_Mutation_p.P479L|LPHN3_ENST00000506700.1_Missense_Mutation_p.P411L|LPHN3_ENST00000507625.1_Missense_Mutation_p.P479L|LPHN3_ENST00000511324.1_Missense_Mutation_p.P479L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	411					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.P411L(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						tacatttctccgccaattcac	0.373000													5	42					0	0	0.001168	0	0
SEMA5A	9037	broad.mit.edu	37	5	9066613	9066613	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:9066613G>T	ENST00000382496.5	-	17	2884	c.2219C>A	c.(2218-2220)cCg>cAg	p.P740Q		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	740	TSP type-1 4.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.P740Q(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CAGCAAATTCGGATCAGCCAG	0.557000													52	165					1.4374e-25	2.74578e-25	0.003610	1	0
ADCY1	107	broad.mit.edu	37	7	45753510	45753510	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:45753510G>T	ENST00000297323.7	+	20	3298	c.3276G>T	c.(3274-3276)atG>atT	p.M1092I		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	1092					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	p.M1092I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TGTGCCCCATGCCTGGCGTCT	0.637000													27	63					1.13719e-10	1.77753e-10	0.008361	1	0
GPR139	124274	broad.mit.edu	37	16	20043588	20043588	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:20043588G>T	ENST00000570682.1	-	2	831	c.531C>A	c.(529-531)acC>acA	p.T177T		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	177						integral to membrane|plasma membrane		p.T177T(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GATGCACAGAGGTGCTGATGT	0.498000													19	61					1.45105e-14	2.48069e-14	0.006122	1	0
MYO3A	53904	broad.mit.edu	37	10	26457663	26457663	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:26457663T>A	ENST00000265944.5	+	28	3300	c.3134T>A	c.(3133-3135)gTg>gAg	p.V1045E	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1045			V -> M (in dbSNP:rs35447806).		protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.V1045E(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TATTATCACGTGGAGCAGTTA	0.348000													6	76					0	0	0.001984	0	0
FAM107B	83641	broad.mit.edu	37	10	14816390	14816390	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:14816390C>A	ENST00000181796.2	-	1	506	c.273G>T	c.(271-273)cgG>cgT	p.R91R		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0								p.R91R(1)		breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GACTTGAATTCCGATTCGCAC	0.592000													34	197					2.40579e-17	4.29883e-17	0.006230	1	0
CABYR	26256	broad.mit.edu	37	18	21735704	21735704	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:21735704T>A	ENST00000399496.3	+	4	404	c.239T>A	c.(238-240)tTa>tAa	p.L80*	CABYR_ENST00000399481.2_5'UTR|CABYR_ENST00000581397.1_Nonsense_Mutation_p.L80*|CABYR_ENST00000415309.2_Nonsense_Mutation_p.L80*|CABYR_ENST00000399499.1_Nonsense_Mutation_p.L80*|CABYR_ENST00000327201.6_5'UTR	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	80					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding	p.L80*(2)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					CAGAAGAAATTAGAATGTTTA	0.348000													21	69					0	0	0.001882	0	0
TCEANC2	127428	broad.mit.edu	37	1	54520165	54520165	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:54520165G>T	ENST00000234827.1	+	2	270	c.70G>T	c.(70-72)Gtt>Ttt	p.V24F	TCEANC2_ENST00000498272.1_3'UTR|TCEANC2_ENST00000371331.1_Missense_Mutation_p.V54F	NM_153035.1	NP_694580.1	Q96MN5	TEAN2_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing 2	24					transcription, DNA-dependent	nucleus	DNA binding	p.K23_V24>NF(1)		kidney(1)|lung(3)|pancreas(1)	5						TGGAGGAAAGGTTTACAAGCA	0.483000													8	43					1.76689e-08	2.56385e-08	0.006214	1	0
SNHG14	104472715	broad.mit.edu	37	15	25429526	25429526	+	RNA	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:25429526C>A	ENST00000424208.1	+	0	450				SNORD115-8_ENST00000363856.1_RNA	NR_003305.1																						TAGGATTACGCTGAGGCCCAG	0.502000													93	242					5.29478e-28	1.02559e-27	0.003610	1	0
HMOX1	3162	broad.mit.edu	37	22	35789515	35789515	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:35789515A>T	ENST00000216117.8	+	5	1130	c.791A>T	c.(790-792)cAg>cTg	p.Q264L		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	264					angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity	p.Q264L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					NADH(DB00157)	ACCCGCTCCCAGGCTCCGCTT	0.582000													45	171					0	0	0.002222	0	0
CD300LG	146894	broad.mit.edu	37	17	41934478	41934478	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:41934478A>T	ENST00000317310.4	+	6	880	c.839A>T	c.(838-840)cAg>cTg	p.Q280L	CD300LG_ENST00000539718.1_Missense_Mutation_p.Q280L|CD300LG_ENST00000377203.4_Missense_Mutation_p.Q246L|CD300LG_ENST00000586233.1_Missense_Mutation_p.Q195L|CD300LG_ENST00000293396.8_Missense_Mutation_p.Q195L	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	280						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity	p.Q280L(1)		central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCAGCTCAACAGGCCACGGAG	0.577000													4	42					0	0	0.000248	0	0
MIR3654	100500804	broad.mit.edu	37	11	62356562	62356562	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:62356562G>C	ENST00000496634.2	-	2	259	c.214C>G	c.(214-216)Ctc>Gtc	p.L72V	TUT1_ENST00000476907.1_Missense_Mutation_p.L72V|TUT1_ENST00000308436.7_Missense_Mutation_p.L110V														p.L110V(1)|p.L72V(1)		NS(1)	1						TACTCAGAGAGCTGAGCAGAA	0.507000													4	64					0	0	0.000248	0	0
SI	6476	broad.mit.edu	37	3	164710132	164710132	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:164710132G>T	ENST00000264382.3	-	42	4957	c.4895C>A	c.(4894-4896)cCa>cAa	p.P1632Q		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1632	Sucrase.				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	p.P1632Q(1)		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)	CATAAATGCTGGACCCCATAA	0.313000										HNSCC(35;0.089)			5	62					3.59834e-05	4.50131e-05	0.001168	1	0
ZAP70	7535	broad.mit.edu	37	2	98349797	98349797	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:98349797G>T	ENST00000264972.5	+	7	1043	c.828G>T	c.(826-828)acG>acT	p.T276T	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Silent_p.T150T	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	276	Interdomain B.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.T276T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						ACCCATCCACGTTGACTCATG	0.697000													3	11					0.004672	0.00538578	0.004672	1	0
CX3CR1	1524	broad.mit.edu	37	3	39308000	39308000	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:39308000T>C	ENST00000358309.3	-	2	136	c.97A>G	c.(97-99)Atg>Gtg	p.M33V	CX3CR1_ENST00000399220.2_Start_Codon_SNP_p.M1V|CX3CR1_ENST00000542107.1_Start_Codon_SNP_p.M1V|CX3CR1_ENST00000541347.1_Start_Codon_SNP_p.M1V	NM_001171174.1	NP_001164645.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	1					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	p.M33V(1)|p.M1V(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		AACTGATCCATGGTGAAGGCC	0.443000													14	35					0	0	0.002450	0	0
SSPO	23145	broad.mit.edu	37	7	149483249	149483249	+	RNA	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:149483249G>T	ENST00000378016.2	+	0	3317							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity	p.R356L(1)				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGAGCCTGCGTCGTGCTGGC	0.652000													4	14					0.000602214	0.0007161	0.000602	1	0
SAMD9	54809	broad.mit.edu	37	7	92733814	92733814	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:92733814T>A	ENST00000379958.2	-	3	1866	c.1597A>T	c.(1597-1599)Ata>Tta	p.I533L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	533						cytoplasm		p.I533L(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTGGCATTATGTCTTCATGT	0.408000													8	136					0	0	0.003080	0	0
SSMEM1	136263	broad.mit.edu	37	7	129847928	129847928	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:129847928G>T	ENST00000297819.3	+	1	229	c.178G>T	c.(178-180)Gtc>Ttc	p.V60F		NM_145268.3	NP_660311.1			serine-rich single-pass membrane protein 1									p.V60F(1)|p.V60I(1)									TAGGGCTTCTGTCTGGGTAGG	0.333000													30	90					5.60225e-13	9.21678e-13	0.001786	1	0
HSPG2	3339	broad.mit.edu	37	1	22176624	22176624	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:22176624C>G	ENST00000374695.3	-	57	7435	c.7356G>C	c.(7354-7356)caG>caC	p.Q2452H	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2452	Ig-like C2-type 10.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	p.Q2452H(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGTCCAGGGTCTGCCCCTCGG	0.672000													12	117					0	0	0.000978	0	0
DDX53	168400	broad.mit.edu	37	X	23020012	23020012	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:23020012G>T	ENST00000327968.5	+	1	1926	c.1838G>T	c.(1837-1839)aGa>aTa	p.R613I	RP11-40F8.2_ENST00000455399.1_RNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	613						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	p.R613I(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						AAGAGGCACAGAGAAACACGA	0.383000													11	20					6.40141e-05	7.95385e-05	0.000978	1	0
PTPRG	5793	broad.mit.edu	37	3	61975455	61975455	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:61975455G>A	ENST00000474889.1	+	3	724	c.347G>A	c.(346-348)tGg>tAg	p.W116*	PTPRG_ENST00000295874.10_Nonsense_Mutation_p.W116*	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	116	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.W116Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AACAAAACCTGGATGAAAAAC	0.423000													6	48					0	0	0.001984	0	0
IMPG1	3617	broad.mit.edu	37	6	76715026	76715026	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:76715026C>A	ENST00000369950.3	-	10	1302	c.1113G>T	c.(1111-1113)gtG>gtT	p.V371V	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	371					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.V371V(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GAATTGTCCCCACATCCAAAG	0.418000													5	95					0.000602214	0.0007161	0.000602	1	0
TUBB8P7	197331	broad.mit.edu	37	16	90160912	90160912	+	RNA	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:90160912G>T	ENST00000564451.1	+	0	863				TUBB8P7_ENST00000567960.1_RNA																							CCCTCCCCTCGCTCATGCCCT	0.736000													8	24					5.4927e-09	8.16284e-09	0.004482	1	0
SEZ6	124925	broad.mit.edu	37	17	27306826	27306826	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:27306826A>C	ENST00000317338.12	-	3	1158	c.730T>G	c.(730-732)Tgt>Ggt	p.C244G	SEZ6_ENST00000442608.3_Missense_Mutation_p.C244G|SEZ6_ENST00000360295.9_Missense_Mutation_p.C244G|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Missense_Mutation_p.C244G			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	244						integral to membrane|plasma membrane		p.C244G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			TTCCAGCTACAAGGGCCTGGG	0.557000													2	8					0	0	0.004672	0	0
KCNT2	343450	broad.mit.edu	37	1	196448362	196448362	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:196448362C>G	ENST00000367433.5	-	5	432	c.331G>C	c.(331-333)Gtg>Ctg	p.V111L	KCNT2_ENST00000294725.8_Missense_Mutation_p.V111L|KCNT2_ENST00000367431.4_Missense_Mutation_p.V111L|KCNT2_ENST00000451324.2_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	111						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.V111L(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATCAATGCCACTGAAACCTGA	0.274000													10	27					0	0	0.008291	0	0
RIMS4	140730	broad.mit.edu	37	20	43385559	43385559	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:43385559G>T	ENST00000372851.3	-	5	637	c.571C>A	c.(571-573)Ccc>Acc	p.P191T	RIMS4_ENST00000541604.2_Missense_Mutation_p.P192T	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	191	C2.				exocytosis|neurotransmitter transport	cell junction|synapse		p.P191T(1)		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)				TTGCCCTGGGGACTCTCAGGA	0.567000													75	177					5.44642e-36	1.08406e-35	0.003610	1	0
PRSS1	5644	broad.mit.edu	37	7	142460405	142460405	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:142460405A>T	ENST00000486171.1	+	5	637	c.620A>T	c.(619-621)aAg>aTg	p.K207M	PRSS1_ENST00000311737.7_Missense_Mutation_p.K193M			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	193	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.K193M(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GAGGGAGGCAAGGATTCATGT	0.532000													14	198					0	0	0.003163	0	0
TRPM8	79054	broad.mit.edu	37	2	234878910	234878910	+	Missense_Mutation	SNP	C	C	A	rs17862932	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:234878910C>A	ENST00000324695.4	+	17	2235	c.2195C>A	c.(2194-2196)aCc>aAc	p.T732N	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	732			T -> I (in dbSNP:rs17862932).			integral to membrane		p.T732N(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GCGTTCTTCACCTCCCCCTTC	0.527000													39	266					2.87052e-16	5.04239e-16	0.005524	1	0
SLC7A14	57709	broad.mit.edu	37	3	170244607	170244607	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:170244607C>G	ENST00000231706.4	-	2	434	c.119G>C	c.(118-120)gGg>gCg	p.G40A	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	40						integral to membrane	amino acid transmembrane transporter activity	p.G40A(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CGTGGTGGTCCCAGTTCCCTC	0.597000													17	36					0	0	0.004990	0	0
DZIP1	22873	broad.mit.edu	37	13	96272140	96272140	+	Splice_Site	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:96272140C>G	ENST00000347108.3	-	8	1604	c.1173_splice	c.e8+1	p.R391_splice	DZIP1_ENST00000376829.2_Splice_Site_p.R391_splice|DZIP1_ENST00000361156.3_Splice_Site_p.R391_splice|DZIP1_ENST00000361396.2_Splice_Site_p.R391_splice			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	391					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	p.R391P(2)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TAACCTTACCCGACCCTTCTC	0.318000													16	120					0	0	0.004007	0	0
RD3	343035	broad.mit.edu	37	1	211654573	211654573	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:211654573C>A	ENST00000367002.4	-	2	1348	c.185G>T	c.(184-186)tGg>tTg	p.W62L	RD3_ENST00000484910.1_Intron	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	62					response to stimulus|visual perception			p.W62L(1)		central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		GCTGGCCAGCCAGCTGTAGTC	0.602000													5	99					8.12818e-05	0.000100244	0.001984	1	0
KIF1B	23095	broad.mit.edu	37	1	10394657	10394657	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:10394657G>A	ENST00000377086.1	+	28	3206	c.3004G>A	c.(3004-3006)Gtg>Atg	p.V1002M	KIF1B_ENST00000263934.6_Missense_Mutation_p.V956M|KIF1B_ENST00000377081.1_Missense_Mutation_p.V1002M			O60333	KIF1B_HUMAN	kinesin family member 1B	1002					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	p.V956M(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GAAAGGTGAAGTGCGGGGATT	0.522000													34	92					0	0	0.002445	0	0
OR5B17	219965	broad.mit.edu	37	11	58126446	58126446	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:58126446A>T	ENST00000357377.3	-	1	96	c.97T>A	c.(97-99)Tac>Aac	p.Y33N		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y33N(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTGATGAGGTAGATGAGGGTA	0.448000													43	146					0	0	0.008740	0	0
HTR2A	3356	broad.mit.edu	37	13	47409239	47409239	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:47409239G>A	ENST00000378688.4	-	3	1280	c.1149C>T	c.(1147-1149)ttC>ttT	p.F383F	HTR2A_ENST00000543956.1_Silent_p.F299F|HTR2A_ENST00000542664.1_Silent_p.F383F			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	383					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	p.F383F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AGGTCTTGTTGAACAGTGTGT	0.423000													5	76					0	0	0.000602	0	0
APLNR	187	broad.mit.edu	37	11	57004333	57004333	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:57004333A>T	ENST00000606794.1	-	1	342	c.146T>A	c.(145-147)gTg>gAg	p.V49E		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	49						integral to plasma membrane	G-protein coupled receptor activity	p.V49E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GGTCCAGAGCACCAGACCGTT	0.597000													17	56					0	0	0.008871	0	0
NOS1	4842	broad.mit.edu	37	12	117681140	117681140	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:117681140C>T	ENST00000317775.6	-	19	3609	c.2924G>A	c.(2923-2925)cGc>cAc	p.R975H	NOS1_ENST00000338101.4_Missense_Mutation_p.R1009H|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	975					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.R975H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AAAGGTGAGGCGGAACTTGTT	0.517000													11	80					0	0	0.008291	0	0
CDCA4	55038	broad.mit.edu	37	14	105477708	105477708	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:105477708G>C	ENST00000336219.3	-	2	714	c.559C>G	c.(559-561)Ccc>Gcc	p.P187A	CDCA4_ENST00000392590.3_Missense_Mutation_p.P187A	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	187						nucleus		p.P187A(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		TCGTAGTAGGGGCTGTCCACG	0.582000													6	63					0	0	0.001168	0	0
CHML	1122	broad.mit.edu	37	1	241798993	241798993	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:241798993C>A	ENST00000366553.1	-	1	239	c.76G>T	c.(76-78)Gca>Tca	p.A26S	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	26					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	p.A26S(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CTTGAACATGCAGCTGCAAGG	0.453000													27	142					2.44723e-14	4.15379e-14	0.004656	1	0
KIAA1328	57536	broad.mit.edu	37	18	34539372	34539372	+	Translation_Start_Site	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:34539372G>A	ENST00000435985.2	+	0	572				KIAA1328_ENST00000280020.5_Missense_Mutation_p.G184S|KIAA1328_ENST00000591619.1_Missense_Mutation_p.G180S|KIAA1328_ENST00000586135.1_Intron|KIAA1328_ENST00000543923.1_Missense_Mutation_p.G76S			Q86T90	K1328_HUMAN	KIAA1328									p.G184S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		CTCAGAACTTGGTGCTGCTAG	0.388000													8	16					0	0	0.004482	0	0
FAM83F	113828	broad.mit.edu	37	22	40417379	40417379	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:40417379C>T	ENST00000333407.5	+	4	959	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W	FAM83F_ENST00000473717.1_3'UTR	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	289								p.R289W(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CACGGAGTTCCGGGAGCTGTA	0.602000													16	216					0	0	0.006122	0	0
SCN2A	6326	broad.mit.edu	37	2	166172032	166172032	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:166172032G>T	ENST00000357398.3	+	11	1725	c.1435G>T	c.(1435-1437)Ggg>Tgg	p.G479W	SCN2A_ENST00000283256.6_Missense_Mutation_p.G479W|SCN2A_ENST00000375427.2_Missense_Mutation_p.G479W|SCN2A_ENST00000375437.2_Missense_Mutation_p.G479W			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	479					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G479W(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TGGTGCTGGTGGGATAGGAGT	0.413000													9	110					1.76689e-08	2.56385e-08	0.006214	1	0
CRISPLD1	83690	broad.mit.edu	37	8	75932315	75932315	+	Splice_Site	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:75932315G>T	ENST00000262207.4	+	12	1712		c.e12+1		CRISPLD1_ENST00000523524.1_Splice_Site|CRISPLD1_ENST00000517786.1_Splice_Site	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1							extracellular region		p.?(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			ATTGCCCAAGGTAAACCAGTG	0.408000													20	31					1.50039e-11	2.39255e-11	0.001882	1	0
KLHL3	26249	broad.mit.edu	37	5	136964068	136964068	+	Nonstop_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:136964068C>A	ENST00000541417.1	-	7	1144	c.602G>T	c.(601-603)tGa>tTa	p.*201L	KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000506491.1_Silent_p.V421V|KLHL3_ENST00000309755.4_Silent_p.V503V|KLHL3_ENST00000508657.1_Silent_p.V471V			Q9UH77	KLHL3_HUMAN	kelch-like family member 3	0						cytoplasm|cytoskeleton	actin binding|structural molecule activity	p.V503V(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CGCTCTTCCTCACCAAAGGCC	0.552000													14	157					1.3612e-06	1.83409e-06	0.003163	1	0
MMRN1	22915	broad.mit.edu	37	4	90856532	90856532	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:90856532G>A	ENST00000394980.1	+	7	2020	c.1701G>A	c.(1699-1701)ttG>ttA	p.L567L	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Silent_p.L309L|MMRN1_ENST00000264790.2_Silent_p.L567L			Q13201	MMRN1_HUMAN	multimerin 1	567					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.L567L(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TTGAAGATTTGCACATTCAAG	0.373000													11	64					0	0	0.008291	0	0
MROH7	374977	broad.mit.edu	37	1	55145645	55145645	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:55145645G>T	ENST00000414150.2	+	13	2586	c.2308G>T	c.(2308-2310)Gtc>Ttc	p.V770F	MROH7_ENST00000409996.1_Missense_Mutation_p.V338F|MROH7_ENST00000395690.2_Missense_Mutation_p.V770F|MROH7_ENST00000339553.5_Missense_Mutation_p.V770F|MROH7_ENST00000545244.1_Missense_Mutation_p.V338F|MROH7_ENST00000454855.2_Missense_Mutation_p.V288F|MROH7_ENST00000421030.2_Missense_Mutation_p.V770F					maestro heat-like repeat family member 7									p.V770F(2)									CCTGCTGCCCGTCTCCCTCCT	0.637000													38	168					3.38236e-24	6.39489e-24	0.006999	1	0
PURB	5814	broad.mit.edu	37	7	44924058	44924058	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:44924058C>A	ENST00000395699.2	-	1	902	c.890G>T	c.(889-891)gGc>gTc	p.G297V		NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	297					regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding	p.G297V(1)		large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						GCCGCCGCTGCCCCCACCACG	0.597000													8	127					5.4927e-09	8.16284e-09	0.004482	1	0
NOP2	4839	broad.mit.edu	37	12	6669388	6669388	+	Silent	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:6669388T>A	ENST00000541778.1	-	15	2141	c.1653A>T	c.(1651-1653)cgA>cgT	p.R551R	NOP2_ENST00000537442.1_Silent_p.R555R|NOP2_ENST00000382421.3_Silent_p.R588R|NOP2_ENST00000545200.1_Silent_p.R551R|NOP2_ENST00000322166.5_Silent_p.R555R|NOP2_ENST00000399466.2_Silent_p.R551R|NOP2_ENST00000542015.1_5'UTR			P46087	NOP2_HUMAN	NOP2 nucleolar protein	555					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity	p.R551R(1)		breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						AGCGCCTTTCTCGAAAGCGGG	0.502000													11	61					0	0	0.000978	0	0
CALHM2	51063	broad.mit.edu	37	10	105209507	105209507	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:105209507G>A	ENST00000393235.1	-	3	1389	c.192C>T	c.(190-192)ccC>ccT	p.P64P	CALHM2_ENST00000369788.3_Silent_p.P64P|CALHM2_ENST00000494180.1_5'UTR|CALHM2_ENST00000260743.5_Silent_p.P64P			Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	64						integral to membrane		p.P64P(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						GCACCAGGGCGGGCACGCCGA	0.667000													14	50					0	0	0.004007	0	0
AJAP1	55966	broad.mit.edu	37	1	4772109	4772109	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:4772109C>T	ENST00000378191.4	+	2	560	c.179C>T	c.(178-180)cCg>cTg	p.P60L	AJAP1_ENST00000378190.3_Missense_Mutation_p.P60L|AJAP1_ENST00000466761.1_3'UTR	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	60					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		p.P60L(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ccgccccggccgccccggcTG	0.731000													5	88					0	0	0.001168	0	0
OR4K14	122740	broad.mit.edu	37	14	20482658	20482658	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:20482658C>A	ENST00000305045.2	-	1	694	c.695G>T	c.(694-696)gGt>gTt	p.G232V		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G232V(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGATGTGCTACCGGCAGCACG	0.498000													19	22					2.4624e-09	3.69917e-09	0.008871	1	0
ADAMTS1	9510	broad.mit.edu	37	21	28210911	28210911	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr21:28210911C>A	ENST00000284984.2	-	8	2505	c.2051G>T	c.(2050-2052)aGc>aTc	p.S684I		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	684	Cys-rich.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	p.S684I(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GGAATCTGGGCTACATGGAGT	0.408000													11	44					3.07112e-06	4.04287e-06	0.000978	1	0
MROH2B	133558	broad.mit.edu	37	5	41045869	41045869	+	Nonsense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:41045869G>C	ENST00000399564.4	-	18	2265	c.1815C>G	c.(1813-1815)taC>taG	p.Y605*	MROH2B_ENST00000506092.2_Nonsense_Mutation_p.Y160*	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.Y605*(1)									AGTTATTGCTGTAACTGCCCA	0.438000													57	210					0	0	0.003610	0	0
L1TD1	54596	broad.mit.edu	37	1	62675725	62675725	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:62675725G>T	ENST00000498273.1	+	4	1574	c.1279G>T	c.(1279-1281)Gat>Tat	p.D427Y		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	427	Glu-rich.							p.D427Y(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						gttggaggaggatgaggcctc	0.522000													11	34					3.86212e-05	4.81677e-05	0.008291	1	0
PEAK1	79834	broad.mit.edu	37	15	77471194	77471194	+	Silent	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:77471194T>C	ENST00000560626.2	-	4	3550	c.3075A>G	c.(3073-3075)ctA>ctG	p.L1025L	PEAK1_ENST00000558305.1_Silent_p.L1025L|PEAK1_ENST00000312493.4_Silent_p.L1025L			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1025					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.L1025L(2)									CTGAGTCCTGTAGTAATGCAT	0.458000													10	54					0	0	0.006214	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368425	86368425	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:86368425G>T	ENST00000400286.2	-	2	2817	c.2219C>A	c.(2218-2220)aCg>aAg	p.T740K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	740						integral to membrane		p.T740K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGATTGGTTCGTGGTTTTGTA	0.368000													52	269					2.74695e-27	5.28383e-27	0.003610	1	0
TATDN2	9797	broad.mit.edu	37	3	10291003	10291003	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:10291003A>T	ENST00000287652.4	+	2	1170	c.119A>T	c.(118-120)cAg>cTg	p.Q40L	TATDN2_ENST00000448281.2_Missense_Mutation_p.Q40L	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	40						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	p.Q40L(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CGGCCAGCTCAGAGGTCTGCG	0.662000													19	80					0	0	0.001523	0	0
KCNH7	90134	broad.mit.edu	37	2	163228428	163228428	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:163228428G>A	ENST00000332142.5	-	16	3601	c.3502C>T	c.(3502-3504)Cat>Tat	p.H1168Y		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1168					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.H1168Y(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AAAGAAGGATGCCTAATTGGA	0.413000													5	58					0	0	0.000602	0	0
SAP130	79595	broad.mit.edu	37	2	128775444	128775444	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:128775444T>A	ENST00000357702.5	-	3	367	c.236A>T	c.(235-237)cAc>cTc	p.H79L	SAP130_ENST00000259234.6_Missense_Mutation_p.H53L|SAP130_ENST00000259235.3_Missense_Mutation_p.H79L	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	79					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	p.H79L(2)		NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GGAACTCATGTGCTCCCTGGC	0.502000													10	54					0	0	0.000978	0	0
GPR115	221393	broad.mit.edu	37	6	47682493	47682493	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:47682493C>T	ENST00000283303.2	+	6	1770	c.1512C>T	c.(1510-1512)gtC>gtT	p.V504V	GPR115_ENST00000371220.1_Silent_p.V561V|GPR115_ENST00000327753.3_Silent_p.V504V	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	504					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V504V(2)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GAATATTGGTCATTTTCCGTA	0.423000													19	203					0	0	0.008871	0	0
PAX5	5079	broad.mit.edu	37	9	36882089	36882089	+	Silent	SNP	C	C	A	rs145283614		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:36882089C>A	ENST00000358127.4	-	8	998	c.924G>T	c.(922-924)gcG>gcT	p.A308A	PAX5_ENST00000377853.2_Silent_p.A308A|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000520281.1_Silent_p.A265A|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000522003.1_Silent_p.A200A|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000377852.2_Intron|PAX5_ENST00000414447.1_Silent_p.A265A	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	308					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(22)|p.A308A(1)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GGGTCGTGCTCGCCAAGTCAC	0.622000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								7	26					0.000157383	0.000191818	0.003080	1	0
IGHV3-20	28445	broad.mit.edu	37	14	106667683	106667683	+	RNA	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:106667683C>T	ENST00000390606.2	-	0	310																											ATCGGCCCTTCACAGAGTCTG	0.532000													19	244					0	0	0.001523	0	0
ANKRD45	339416	broad.mit.edu	37	1	173594012	173594012	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:173594012G>C	ENST00000333279.2	-	5	704	c.644C>G	c.(643-645)aCa>aGa	p.T215R		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	231								p.T215R(1)		NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						GGAAGCTTCTGTATGGGTTTC	0.378000													6	72					0	0	0.001168	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125204404	125204404	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:125204404C>A	ENST00000431078.1	+	6	1172	c.808C>A	c.(808-810)Cac>Aac	p.H270N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	270	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.H270N(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCAGCACTGGCACTCGGTCCT	0.607000													27	47					7.92952e-12	1.27302e-11	0.003954	1	0
CDC14A	8556	broad.mit.edu	37	1	100960422	100960422	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:100960422G>T	ENST00000336454.3	+	12	1541	c.1186G>T	c.(1186-1188)Gga>Tga	p.G396*	CDC14A_ENST00000542213.1_Nonsense_Mutation_p.G338*|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000361544.6_Nonsense_Mutation_p.G396*|CDC14A_ENST00000544534.1_Nonsense_Mutation_p.G396*	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	396					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.Q395_G396>H*(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TATAACCCAGGGAGACAAACT	0.373000													4	46					2.56e-06	3.39425e-06	0.000248	1	0
OR7G1	125962	broad.mit.edu	37	19	9226195	9226195	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:9226195A>G	ENST00000293614.1	-	1	244	c.245T>C	c.(244-246)cTa>cCa	p.L82P	OR7G1_ENST00000541538.1_Missense_Mutation_p.L82P			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L82P(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						GATGTTCACTAGGATCTTTGG	0.458000													48	120					0	0	0.003610	0	0
HPS3	84343	broad.mit.edu	37	3	148847543	148847543	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:148847543G>T	ENST00000296051.2	+	1	173	c.33G>T	c.(31-33)ggG>ggT	p.G11G	HPS3_ENST00000494327.1_3'UTR|HPS3_ENST00000460120.1_Silent_p.G11G	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	11						cytoplasm		p.G11G(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ACCCGTTCGGGTCGCAGCAGG	0.726000									Hermansky-Pudlak syndrome				6	14					8.12818e-05	0.000100244	0.001984	1	0
IGLV1-40	28825	broad.mit.edu	37	22	22764469	22764469	+	RNA	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:22764469G>T	ENST00000390299.2	+	0	262																											CCTCATCTATGGTAACAGCAA	0.587000													59	221					1.07751e-37	2.14984e-37	0.003610	1	0
TRPC5	7224	broad.mit.edu	37	X	111155894	111155894	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:111155894G>T	ENST00000262839.2	-	3	1443	c.525C>A	c.(523-525)cgC>cgA	p.R175R		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	175					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.R175R(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CACAGTTGCAGCGGATCTGGT	0.537000													26	35					4.72057e-08	6.73788e-08	0.003954	1	0
TFAP2B	7021	broad.mit.edu	37	6	50803856	50803856	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:50803856G>C	ENST00000263046.4	+	5	877	c.711G>C	c.(709-711)gaG>gaC	p.E237D	TFAP2B_ENST00000393655.3_Missense_Mutation_p.E228D			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	228					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	p.E228D(1)		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)					ACACCGGCGAGGTGTTTTGCT	0.493000													9	131					0	0	0.006214	0	0
ZNF511	118472	broad.mit.edu	37	10	135165850	135165850	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:135165850A>G	ENST00000368554.4	+	8	861	c.839A>G	c.(838-840)cAg>cGg	p.Q280R	PRAP1_ENST00000433452.2_Missense_Mutation_p.Q121R|PRAP1_ENST00000463201.1_3'UTR|PRAP1_ENST00000458230.1_Missense_Mutation_p.Q112R|PRAP1_ENST00000423766.1_Missense_Mutation_p.Q122R			Q8NB15	ZN511_HUMAN	zinc finger protein 511	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		GAGGAGGACCAGGGCGAGGAG	0.652000													3	77					0	0	0.004672	0	0
SVIL	6840	broad.mit.edu	37	10	29812503	29812503	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:29812503C>T	ENST00000375398.2	-	17	3489	c.3040G>A	c.(3040-3042)Gaa>Aaa	p.E1014K	SVIL_ENST00000355867.4_Missense_Mutation_p.E1014K|SVIL_ENST00000375400.3_Missense_Mutation_p.E588K			O95425	SVIL_HUMAN	supervillin	1014					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	p.E1014K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TCCTTCGGTTCATCCCCGAGG	0.512000													7	64					0	0	0.001984	0	0
ADNP2	22850	broad.mit.edu	37	18	77893726	77893726	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:77893726G>A	ENST00000262198.4	+	4	885	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	144					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E144K(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TATTTTAGGTGAAACTAAATC	0.408000													8	69					0	0	0.003080	0	0
IGKV5-2	28907	broad.mit.edu	37	2	89197011	89197011	+	RNA	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:89197011G>T	ENST00000390244.2	+	0	119																											TCAGATACCAGGGCAGAAACG	0.383000													13	35					9.31168e-06	1.20667e-05	0.001855	1	0
COL12A1	1303	broad.mit.edu	37	6	75875431	75875431	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:75875431C>A	ENST00000322507.8	-	14	3084	c.2775G>T	c.(2773-2775)tgG>tgT	p.W925C	COL12A1_ENST00000483888.2_Missense_Mutation_p.W925C|COL12A1_ENST00000416123.2_Missense_Mutation_p.W925C|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	925	Fibronectin type-III 6.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.W925C(1)		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						GAGCAGATGTCCAATAAGCCC	0.388000													12	93					7.03913e-09	1.0433e-08	0.001368	1	0
INTS1	26173	broad.mit.edu	37	7	1538688	1538688	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:1538688G>A	ENST00000389470.4	-	9	1443	c.1444C>T	c.(1444-1446)Ctc>Ttc	p.L482F	INTS1_ENST00000404767.3_Missense_Mutation_p.L354F			Q8N201	INT1_HUMAN	integrator complex subunit 1	354					snRNA processing	integral to membrane|integrator complex|nuclear membrane		p.L482F(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GTGGAGGTGAGGAGCCGCAGG	0.677000													4	7					0	0	0.000248	0	0
PKD1	5310	broad.mit.edu	37	16	2160773	2160773	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:2160773G>A	ENST00000262304.4	-	15	4603	c.4395C>T	c.(4393-4395)ccC>ccT	p.P1465P	PKD1_ENST00000423118.1_Silent_p.P1465P	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1465	PKD 9.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	p.P1465P(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGACCAGCACGGGCTCCTGCA	0.622000													7	82					0	0	0.003080	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552728	140552728	+	Silent	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:140552728G>C	ENST00000231137.3	+	1	486	c.312G>C	c.(310-312)ctG>ctC	p.L104L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		104	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L104L(1)		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)			CCTGTGTGCTGCCTTTCCAGT	0.443000													30	79					0	0	0.001786	0	0
PSMC4	5704	broad.mit.edu	37	19	40480540	40480540	+	Splice_Site	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:40480540G>C	ENST00000157812.2	+	5	777	c.579_splice	c.e5+1	p.Q193_splice	PSMC4_ENST00000455878.2_Splice_Site_p.Q162_splice	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	193					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|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	p.Q193H(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCTACAAGCAGGTGAGGCGGT	0.612000													39	31					0	0	0.005524	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110464485	110464485	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:110464485C>A	ENST00000378402.5	+	42	6587	c.6483C>A	c.(6481-6483)atC>atA	p.I2161I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2161	IPT/TIG 14.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.I2163I(1)		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)			GTGTCCACATCAGAGGTGTCG	0.453000										HNSCC(38;0.096)			27	52					9.65021e-13	1.57826e-12	0.002096	1	0
COL18A1	80781	broad.mit.edu	37	21	46875463	46875463	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr21:46875463G>A	ENST00000359759.4	+	1	40	c.19G>A	c.(19-21)Ggc>Agc	p.G7S	COL18A1_ENST00000400337.2_Intron|COL18A1_ENST00000355480.5_Missense_Mutation_p.G7S			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	7					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	p.G7S(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTACCCCTGTGGCTGCCACAT	0.672000													7	49					0	0	0.003080	0	0
TG	7038	broad.mit.edu	37	8	133885314	133885314	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:133885314G>C	ENST00000220616.4	+	5	526	c.486G>C	c.(484-486)agG>agC	p.R162S	TG_ENST00000377869.1_Missense_Mutation_p.R162S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	162	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.R162S(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TAGGTCCAAGGAGCTGTGAAA	0.453000													16	30					0	0	0.004990	0	0
IST1	9798	broad.mit.edu	37	16	71961559	71961559	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:71961559G>T	ENST00000378799.6	+	10	1300	c.944G>T	c.(943-945)aGa>aTa	p.R315I	IST1_ENST00000378798.5_Missense_Mutation_p.R284I|IST1_ENST00000544564.1_Missense_Mutation_p.R315I|IST1_ENST00000541571.2_Missense_Mutation_p.R315I|IST1_ENST00000329908.8_Missense_Mutation_p.D314Y|IST1_ENST00000606369.1_Missense_Mutation_p.R167I|IST1_ENST00000538850.1_Missense_Mutation_p.R167I|IST1_ENST00000535424.1_Missense_Mutation_p.R328I|IST1_ENST00000538565.1_3'UTR	NM_001270975.1	NP_001257904.1	P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	313	Interaction with VTA1.				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding	p.D314Y(1)									CTTCCTTCCAGACCTGCAGAT	0.498000													41	206					7.62715e-32	1.51087e-31	0.007835	1	0
HECW1	23072	broad.mit.edu	37	7	43581559	43581559	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:43581559G>C	ENST00000395891.1	+	26	4815	c.4210G>C	c.(4210-4212)Gac>Cac	p.D1404H	HECW1_ENST00000453890.1_Missense_Mutation_p.D1370H	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1404	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.D1383Y(1)|p.D1383H(1)|p.D1404H(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGACATCTTAGACCTCACTTT	0.413000													8	114					0	0	0.008291	0	0
EYS	346007	broad.mit.edu	37	6	66063486	66063486	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:66063486T>G	ENST00000503581.1	-	9	1861	c.1324A>C	c.(1324-1326)Aaa>Caa	p.K442Q	EYS_ENST00000370621.3_Missense_Mutation_p.K442Q|EYS_ENST00000370616.2_Missense_Mutation_p.K442Q|EYS_ENST00000370618.3_Missense_Mutation_p.K442Q|EYS_ENST00000342421.5_Missense_Mutation_p.K442Q|EYS_ENST00000393380.2_Missense_Mutation_p.K442Q	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	442					response to stimulus|visual perception	extracellular region	calcium ion binding	p.K442Q(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CATGGATTTTTTGTGCACCCT	0.338000													7	65					0	0	0.006214	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32210976	32210976	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:32210976A>T	ENST00000346541.3	+	6	1130	c.593A>T	c.(592-594)cAg>cTg	p.Q198L	CBFA2T2_ENST00000397800.1_Missense_Mutation_p.Q169L|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.Q198L|CBFA2T2_ENST00000342704.5_Missense_Mutation_p.Q189L|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.Q208L|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.Q169L|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.Q169L	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	198	TAFH.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q189L(1)|p.Q198L(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						GCGGCCAAGCAGACCCCATCC	0.587000													5	70					0	0	0.000602	0	0
ARPP21	10777	broad.mit.edu	37	3	35778812	35778812	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:35778812C>A	ENST00000187397.4	+	16	2058	c.1602C>A	c.(1600-1602)gtC>gtA	p.V534V	ARPP21_ENST00000337271.5_Silent_p.V480V|ARPP21_ENST00000417925.1_Silent_p.V500V|ARPP21_ENST00000444190.1_Silent_p.V480V|ARPP21_ENST00000458225.1_Silent_p.V500V	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	534	Gln-rich.					cytoplasm	nucleic acid binding	p.V534V(1)		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						AACAGCAGGTCCAGCCACCGC	0.647000													9	29					0.00829132	0.00952497	0.008291	1	0
UTRN	7402	broad.mit.edu	37	6	145069549	145069549	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:145069549C>T	ENST00000367545.3	+	54	8107	c.8107C>T	c.(8107-8109)Ctg>Ttg	p.L2703L	UTRN_ENST00000367526.4_Silent_p.L258L	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2703					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.L2703L(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TATGGATGACCTGGACGCTGA	0.483000													4	37					0	0	0.000248	0	0
MUC17	140453	broad.mit.edu	37	7	100679089	100679089	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:100679089C>A	ENST00000306151.4	+	3	4456	c.4392C>A	c.(4390-4392)aaC>aaA	p.N1464K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1464	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.N1464K(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGTCAGCAACACGCCGGTGG	0.473000													32	473					5.8336e-16	1.02042e-15	0.003271	1	0
SPATA31A3	727830	broad.mit.edu	37	9	40704246	40704246	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:40704246C>A	ENST00000356699.5	+	4	1932	c.1903C>A	c.(1903-1905)Cag>Aag	p.Q635K		NM_001083124.1	NP_001076593.1			SPATA31 subfamily A, member 3									p.Q635K(2)									AGGGACAAGTCAGGCCAAGGG	0.542000													16	147					2.4624e-09	3.69917e-09	0.008871	1	0
OR5K2	402135	broad.mit.edu	37	3	98216531	98216531	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:98216531G>A	ENST00000427338.1	+	1	84	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K		NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E3K(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						AGGAATGGTTGAAGAAAATCA	0.373000													10	91					0	0	0.006214	0	0
DIP2B	57609	broad.mit.edu	37	12	51100372	51100372	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:51100372G>T	ENST00000301180.5	+	21	2492	c.2458G>T	c.(2458-2460)Ggt>Tgt	p.G820C		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	820						nucleus	catalytic activity|transcription factor binding	p.G820C(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GATGGTTAGTGGTCGAAGACA	0.363000													31	54					4.40665e-25	8.37919e-25	0.001786	1	0
FAM19A5	25817	broad.mit.edu	37	22	49103622	49103622	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:49103622G>T	ENST00000358295.5	+	3	510	c.335G>T	c.(334-336)tGc>tTc	p.C112F	FAM19A5_ENST00000473898.1_3'UTR|FAM19A5_ENST00000406880.1_Missense_Mutation_p.C40F|FAM19A5_ENST00000402357.1_Missense_Mutation_p.C119F	NM_015381.5	NP_056196.2	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	119						extracellular region|integral to membrane		p.C112F(1)|p.C119F(1)		large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		GGCTGGACGTGCACGCAGCCC	0.612000													30	137					2.81731e-10	4.37079e-10	0.002096	1	0
TNRC18	84629	broad.mit.edu	37	7	5427458	5427458	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:5427458C>A	ENST00000399537.4	-	5	2345	c.1997G>T	c.(1996-1998)cGc>cTc	p.R666L	TNRC18_ENST00000430969.1_Missense_Mutation_p.R666L			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	666							DNA binding	p.R666L(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		AGAGCCCTCGCGCCCGAAAGC	0.731000													3	35					0.004672	0.00538578	0.004672	1	0
SLC22A3	6581	broad.mit.edu	37	6	160858107	160858107	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:160858107C>T	ENST00000392145.1	+	7	1179	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	SLC22A3_ENST00000275300.2_Silent_p.F384F			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	384						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	p.F384F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		TAGACTTTTTCATCTCGGGCG	0.507000													15	177					0	0	0.003163	0	0
ATXN1	6310	broad.mit.edu	37	6	16327891	16327891	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:16327891C>A	ENST00000244769.4	-	8	1587	c.651G>T	c.(649-651)caG>caT	p.Q217H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q217H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	217	Poly-Gln.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	p.Q217H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgctgctgctgct	0.657000													3	13					0.004672	0.00538578	0.004672	1	0
MTTP	4547	broad.mit.edu	37	4	100532334	100532334	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:100532334G>T	ENST00000457717.1	+	14	2060	c.1804G>T	c.(1804-1806)Gct>Tct	p.A602S	MTTP_ENST00000511045.1_Missense_Mutation_p.A629S|MTTP_ENST00000265517.5_Missense_Mutation_p.A602S|RP11-766F14.1_ENST00000508578.1_RNA	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	602	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	p.A602S(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GGAAATGGTCGCTCACAATTA	0.423000													16	94					3.32936e-07	4.56001e-07	0.006122	1	0
AGBL1	123624	broad.mit.edu	37	15	87089343	87089343	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:87089343C>A	ENST00000441037.2	+	19	2753	c.2658C>A	c.(2656-2658)atC>atA	p.I886I	AGBL1_ENST00000389298.3_Silent_p.I617I|AGBL1_ENST00000421325.2_Silent_p.I886I	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	886					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.I886I(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CATCTACTATCCTAGAGGAGG	0.473000													13	29					0.000219431	0.000266659	0.002450	1	0
NCAPG	64151	broad.mit.edu	37	4	17819644	17819644	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:17819644G>T	ENST00000251496.2	+	7	1227	c.1051G>T	c.(1051-1053)Gat>Tat	p.D351Y		NM_022346.3	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	351					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding	p.D351Y(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		ATCAAAAGGAGATGAAGGTGA	0.323000													40	92					2.19962e-31	4.34171e-31	0.008740	1	0
OR6N2	81442	broad.mit.edu	37	1	158746535	158746535	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:158746535G>A	ENST00000339258.1	-	1	890	c.891C>T	c.(889-891)atC>atT	p.I297I		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I297I(1)		endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TAGCTTTAATGATTTCCTTGT	0.408000													14	164					0	0	0.003163	0	0
ENO3	2027	broad.mit.edu	37	17	4856127	4856127	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:4856127G>T	ENST00000323997.6	+	3	255	c.123G>T	c.(121-123)acG>acT	p.T41T	ENO3_ENST00000519584.1_Silent_p.T41T|ENO3_ENST00000518175.1_Silent_p.T41T	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	41					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity	p.T41T(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						GGGCTTCCACGGGTATCTATG	0.607000													5	12					3.59834e-05	4.50131e-05	0.001168	1	0
KIF6	221458	broad.mit.edu	37	6	39507930	39507930	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:39507930C>A	ENST00000287152.7	-	13	1588	c.1494G>T	c.(1492-1494)atG>atT	p.M498I	KIF6_ENST00000373216.3_Missense_Mutation_p.M498I|KIF6_ENST00000373213.4_Missense_Mutation_p.M337I|KIF6_ENST00000538893.1_Intron|KIF6_ENST00000373215.3_Missense_Mutation_p.M498I	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	498					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	p.M498I(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CACGTCTATCCATGCCAGCCA	0.478000													13	241					2.31682e-05	2.93135e-05	0.003163	1	0
CCP110	9738	broad.mit.edu	37	16	19548650	19548650	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:19548650A>T	ENST00000396212.2	+	5	2095	c.1659A>T	c.(1657-1659)ttA>ttT	p.L553F	CCP110_ENST00000396208.2_Missense_Mutation_p.L553F|CCP110_ENST00000381396.5_Missense_Mutation_p.L553F	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	553	Interaction with CEP76.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding	p.L553F(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CTTCTCCTTTATTGATGCAAA	0.388000													19	52					0	0	0.002299	0	0
UBAP1	51271	broad.mit.edu	37	9	34249796	34249796	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:34249796C>G	ENST00000536252.1	+	6	1501	c.1103C>G	c.(1102-1104)tCa>tGa	p.S368*	UBAP1_ENST00000379186.4_Intron|UBAP1_ENST00000540348.1_Nonsense_Mutation_p.S368*|UBAP1_ENST00000297661.4_Nonsense_Mutation_p.S368*|UBAP1_ENST00000359544.2_Nonsense_Mutation_p.S368*|UBAP1_ENST00000545103.1_Nonsense_Mutation_p.S432*|UBAP1_ENST00000543944.1_Nonsense_Mutation_p.S404*	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	368						cytoplasm		p.S368*(1)|p.S432*(1)		endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			CCTAATTTCTCAGTGTCACAA	0.557000													13	161					0	0	0.001368	0	0
FAM171B	165215	broad.mit.edu	37	2	187627260	187627260	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:187627260C>A	ENST00000304698.5	+	8	2394	c.2191C>A	c.(2191-2193)Cat>Aat	p.H731N		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	731						integral to membrane	DNA binding	p.H731N(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CAAAAGCATGCATCAGCCCAA	0.483000													43	92					1.89013e-27	3.64415e-27	0.003610	1	0
POSTN	10631	broad.mit.edu	37	13	38154834	38154834	+	Splice_Site	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:38154834C>A	ENST00000379747.4	-	11	1510	c.1392_splice	c.e11-1	p.A465_splice	POSTN_ENST00000379749.4_Splice_Site_p.A465_splice|POSTN_ENST00000541481.1_Splice_Site_p.A465_splice|POSTN_ENST00000379743.4_Splice_Site_p.A465_splice|POSTN_ENST00000379742.4_Splice_Site_p.A465_splice|POSTN_ENST00000541179.1_Splice_Site_p.A465_splice	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	465	FAS1 3.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	p.A465S(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ATGCAGACAGCCTAGGAAAGG	0.438000													28	92					1.7367e-05	2.21083e-05	0.006320	1	0
ABCB5	340273	broad.mit.edu	37	7	20721145	20721145	+	Silent	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:20721145T>C	ENST00000404938.2	+	15	2377	c.1725T>C	c.(1723-1725)acT>acC	p.T575T	ABCB5_ENST00000258738.6_Silent_p.T130T	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	130	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.T130T(1)|p.T575T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AAGGTCGGACTACAATCGTGG	0.408000													6	64					0	0	0.001168	0	0
CYP3A43	64816	broad.mit.edu	37	7	99447310	99447310	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:99447310C>T	ENST00000342499.4	+	5	600	c.250C>T	c.(250-252)Ctt>Ttt	p.L84F	CYP3A43_ENST00000354829.2_Silent_p.L221L|CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000222382.5_Silent_p.L221L|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000312017.5_Silent_p.L221L			Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	0			YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.L221L(1)		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)	CCTTTTTACTCTTAATATGTA	0.289000													12	36					0	0	0.001368	0	0
ZNF780B	163131	broad.mit.edu	37	19	40554637	40554637	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:40554637C>A	ENST00000434248.1	-	3	141	c.76G>T	c.(76-78)Gat>Tat	p.D26Y	ZNF780B_ENST00000221355.6_5'UTR|ZNF780B_ENST00000598845.1_Missense_Mutation_p.D26Y	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	26	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D26Y(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTCCTCTGATCAGGCTGCAGG	0.468000													114	125					1.6696e-61	3.36352e-61	0.003610	1	0
IGF2R	3482	broad.mit.edu	37	6	160523695	160523695	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:160523695G>C	ENST00000356956.1	+	46	7135	c.6987G>C	c.(6985-6987)aaG>aaC	p.K2329N	IGF2R_ENST00000475584.1_3'UTR	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2329					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	p.K2329N(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TCTACAAGAAGGAGAGGAGGT	0.597000													7	6					0	0	0.001984	0	0
ZNF492	57615	broad.mit.edu	37	19	22847748	22847748	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:22847748G>T	ENST00000456783.2	+	4	1521	c.1277G>T	c.(1276-1278)tGt>tTt	p.C426F		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C426F(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TGTGAAGAATGTGGCAAAGCT	0.358000													15	75					1.87028e-06	2.50376e-06	0.001882	1	0
PPP1R9A	55607	broad.mit.edu	37	7	94750039	94750039	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:94750039G>T	ENST00000289495.5	+	3	1760	c.1544G>T	c.(1543-1545)gGt>gTt	p.G515V	PPP1R9A_ENST00000424654.1_Missense_Mutation_p.G515V|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.G515V|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.G515V|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.G515V|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.G515V	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	515	PDZ.					cell junction|synapse|synaptosome	actin binding	p.G515V(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GATGGTCTTGGTATAAGTATT	0.418000										HNSCC(28;0.073)			36	172					4.62619e-21	8.51383e-21	0.004289	1	0
GJA8	2703	broad.mit.edu	37	1	147380368	147380368	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:147380368G>T	ENST00000240986.4	+	2	339	c.286G>T	c.(286-288)Gcg>Tcg	p.A96S	GJA8_ENST00000369235.1_Missense_Mutation_p.A96S	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	96					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	p.A96S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CGTGGGGCACGCGGTGCACTA	0.657000													38	44					3.09479e-21	5.70816e-21	0.006999	1	0
DLGAP3	58512	broad.mit.edu	37	1	35365744	35365744	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:35365744G>T	ENST00000373347.1	-	4	1506	c.1238C>A	c.(1237-1239)cCc>cAc	p.P413H	DLGAP3_ENST00000235180.4_Missense_Mutation_p.P413H			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	413					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		p.P413H(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				AGATGTCTTGGGGCTGCCGTC	0.652000													13	81					0.00185496	0.00217921	0.001855	1	0
CDC42BPA	8476	broad.mit.edu	37	1	227348290	227348290	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:227348290C>G	ENST00000366769.3	-	6	1938	c.647G>C	c.(646-648)cGg>cCg	p.R216P	CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R216P|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R216P|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R216P|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R216P|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R216P|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R216P	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	216	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R216L(3)|p.R216P(3)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				ATCTGCTAACCGAATATGTCC	0.294000													24	193					0	0	0.007291	0	0
RYR2	6262	broad.mit.edu	37	1	237944872	237944872	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:237944872G>T	ENST00000366574.2	+	89	12205	c.11888G>T	c.(11887-11889)aGt>aTt	p.S3963I	RYR2_ENST00000360064.6_Missense_Mutation_p.S3969I|RYR2_ENST00000542537.1_Missense_Mutation_p.S3947I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3963					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.S3961I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGGATTCCAGTCAAATTGAG	0.338000													9	7					4.68919e-08	6.70461e-08	0.008291	1	0
CDH18	1016	broad.mit.edu	37	5	19747068	19747068	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:19747068G>T	ENST00000507958.1	-	6	1496	c.506C>A	c.(505-507)cCt>cAt	p.P169H	CDH18_ENST00000511273.1_Missense_Mutation_p.P169H|CDH18_ENST00000502796.1_Missense_Mutation_p.P169H|CDH18_ENST00000506372.1_Missense_Mutation_p.P169H|CDH18_ENST00000382275.1_Missense_Mutation_p.P169H|CDH18_ENST00000274170.4_Missense_Mutation_p.P169H			Q13634	CAD18_HUMAN	cadherin 18, type 2	169	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P169H(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGACATTTCAGGCACAGTAAC	0.328000													32	101					3.86903e-22	7.19215e-22	0.002836	1	0
ZNF534	147658	broad.mit.edu	37	19	52942160	52942160	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:52942160C>T	ENST00000332323.6	+	4	1547	c.1486C>T	c.(1486-1488)Cga>Tga	p.R496*	ZNF534_ENST00000433050.1_Nonsense_Mutation_p.R483*|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R496*(1)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						AAACCTTCAACGACATAGGAA	0.398000													5	13					0	0	0.000602	0	0
MPDZ	8777	broad.mit.edu	37	9	13150681	13150681	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:13150681T>A	ENST00000319217.7	-	25	3706	c.3459A>T	c.(3457-3459)gaA>gaT	p.E1153D	MPDZ_ENST00000447879.1_Missense_Mutation_p.E1153D|MPDZ_ENST00000381015.4_Missense_Mutation_p.E1153D|MPDZ_ENST00000541718.1_Missense_Mutation_p.E1153D|MPDZ_ENST00000546205.1_Missense_Mutation_p.E1167D|MPDZ_ENST00000381022.2_Missense_Mutation_p.E1153D|MPDZ_ENST00000536827.1_Missense_Mutation_p.E1153D|MPDZ_ENST00000538841.1_Missense_Mutation_p.E45D	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1153	PDZ 7.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	p.E1153D(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CTCTCCAGAGTTCCACCCTAA	0.393000													8	59					0	0	0.003080	0	0
SCRN3	79634	broad.mit.edu	37	2	175292567	175292567	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:175292567A>G	ENST00000272732.6	+	8	1301	c.1219A>G	c.(1219-1221)Aca>Gca	p.T407A	SCRN3_ENST00000409673.3_Missense_Mutation_p.T400A|SCRN3_ENST00000548921.1_3'UTR	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	407					proteolysis		dipeptidase activity	p.T400A(1)|p.T407A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			TCCTCAGTGTACAAAAGATGA	0.333000													3	57					0	0	0.004672	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140773763	140773763	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:140773763C>G	ENST00000398604.2	+	1	1383	c.1383C>G	c.(1381-1383)atC>atG	p.I461M	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_032088.1	NP_114477.1												p.I461M(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCGTATATCCTAGAGAACA	0.527000													9	20					0	0	0.008291	0	0
MTMR1	8776	broad.mit.edu	37	X	149901077	149901077	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:149901077G>T	ENST00000445323.2	+	10	1076	c.955G>T	c.(955-957)Ggt>Tgt	p.G319C	MTMR1_ENST00000451863.2_Missense_Mutation_p.G311C|MTMR1_ENST00000370390.3_Missense_Mutation_p.G311C|MTMR1_ENST00000538506.1_Missense_Mutation_p.G198C|MTMR1_ENST00000541925.1_Missense_Mutation_p.G217C|MTMR1_ENST00000542156.1_Missense_Mutation_p.G311C|MTMR1_ENST00000544228.1_Missense_Mutation_p.G311C			Q13613	MTMR1_HUMAN	myotubularin related protein 1	311	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity	p.G311C(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GCCACTTGTGGGTCCCAATGA	0.418000													8	15					2.17888e-05	2.76524e-05	0.006214	1	0
BRINP3	339479	broad.mit.edu	37	1	190067891	190067891	+	Missense_Mutation	SNP	G	G	T	rs147799875		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:190067891G>T	ENST00000367462.3	-	8	1789	c.1558C>A	c.(1558-1560)Cgc>Agc	p.R520S	FAM5C_ENST00000534846.1_Missense_Mutation_p.R418S|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		520						extracellular region		p.R520G(2)|p.R520S(1)		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)					CTATTGAGGCGCATGTCATTG	0.453000													15	170					3.45872e-05	4.36614e-05	0.004007	1	0
SETD5	55209	broad.mit.edu	37	3	9512269	9512269	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:9512269G>A	ENST00000402466.1	+	20	3325	c.2557G>A	c.(2557-2559)Gga>Aga	p.G853R	SETD5_ENST00000302463.6_Missense_Mutation_p.G853R|SETD5_ENST00000406341.1_Missense_Mutation_p.G951R|SETD5_ENST00000402198.1_Missense_Mutation_p.G951R|SETD5_ENST00000407969.1_Missense_Mutation_p.G970R			Q9C0A6	SETD5_HUMAN	SET domain containing 5	951										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TCCCTCCCTCGGACCCACTTC	0.507000													5	187					0	0	0.000602	0	0
TRGJP2	6972	broad.mit.edu	37	7	38295980	38295980	+	RNA	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:38295980T>A	ENST00000390334.1	-	0	17																											GCAAACGTCTTGATCCAATCA	0.353000													7	29					0	0	0.003080	0	0
PLA2R1	22925	broad.mit.edu	37	2	160798647	160798647	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:160798647G>C	ENST00000283243.7	-	29	4374	c.4168C>G	c.(4168-4170)Cca>Gca	p.P1390A	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1390					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.P1390A(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CCTTTTTCTGGCAGCGCCTCT	0.303000													26	45					0	0	0.007291	0	0
COG5	10466	broad.mit.edu	37	7	107053032	107053032	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:107053032T>C	ENST00000393603.2	-	7	948	c.677A>G	c.(676-678)gAa>gGa	p.E226G	COG5_ENST00000297135.3_Missense_Mutation_p.E226G|COG5_ENST00000347053.3_Missense_Mutation_p.E226G|COG5_ENST00000475638.2_5'UTR	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	226					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	p.E226G(1)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TAGATCATTTTCTATCACTTC	0.318000													17	57					0	0	0.004007	0	0
NLRP4	147945	broad.mit.edu	37	19	56370569	56370569	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:56370569T>C	ENST00000301295.6	+	3	2232	c.1810T>C	c.(1810-1812)Ttt>Ctt	p.F604L	NLRP4_ENST00000346986.5_Missense_Mutation_p.F604L|NLRP4_ENST00000587891.1_Missense_Mutation_p.F529L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	604							ATP binding	p.F604L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAAACTCTGTTTTTCCGTTCA	0.408000													17	67					0	0	0.006122	0	0
POP1	10940	broad.mit.edu	37	8	99169910	99169910	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:99169910G>A	ENST00000401707.2	+	16	2567	c.2486G>A	c.(2485-2487)gGc>gAc	p.G829D	POP1_ENST00000349693.3_Missense_Mutation_p.G829D	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	829					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	p.G829D(1)		autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AGTCGGGGAGGCCGGCGAGCT	0.567000													20	39					0	0	0.001882	0	0
PADI2	11240	broad.mit.edu	37	1	17396687	17396687	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:17396687T>A	ENST00000375486.4	-	15	1723	c.1660A>T	c.(1660-1662)Atc>Ttc	p.I554F	PADI2_ENST00000444885.2_Missense_Mutation_p.I438F|PADI2_ENST00000466151.1_5'UTR	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	554					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.I554F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TTCTTGAGGATGTCACGGTTC	0.587000													32	113					0	0	0.008740	0	0
ABCA2	20	broad.mit.edu	37	9	139905706	139905706	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:139905706T>A	ENST00000265662.5	-	38	6002	c.5855A>T	c.(5854-5856)tAc>tTc	p.Y1952F	ABCA2_ENST00000341511.6_Missense_Mutation_p.Y1952F|ABCA2_ENST00000371605.3_Missense_Mutation_p.Y1951F			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1951					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.Y1952F(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCCCAGGTTGTAGTTGGGGAA	0.617000													15	38					0	0	0.002450	0	0
LAMA4	3910	broad.mit.edu	37	6	112496655	112496655	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:112496655C>A	ENST00000230538.7	-	11	1614	c.1217G>T	c.(1216-1218)gGg>gTg	p.G406V	LAMA4_ENST00000522006.1_Missense_Mutation_p.G399V|LAMA4_ENST00000389463.4_Missense_Mutation_p.G399V|LAMA4_ENST00000424408.2_Missense_Mutation_p.G399V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	406	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	p.G399V(1)		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)		ATGCTCTTCCCCATAATAGAG	0.468000													48	117					2.43139e-17	4.33524e-17	0.003610	1	0
HAO1	54363	broad.mit.edu	37	20	7875833	7875833	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:7875833C>A	ENST00000378789.3	-	5	811	c.760G>T	c.(760-762)Ggg>Tgg	p.G254W		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	254	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	p.G254W(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ACCAAGATCCCATTCAAGCCA	0.488000													28	104					2.70662e-09	4.06238e-09	0.001786	1	0
CCNE1	898	broad.mit.edu	37	19	30303884	30303884	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:30303884G>A	ENST00000262643.3	+	4	399	c.120G>A	c.(118-120)caG>caA	p.Q40Q	CCNE1_ENST00000444983.2_Silent_p.Q25Q|CCNE1_ENST00000357943.5_Silent_p.Q40Q	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	40					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity	p.Q40Q(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			AGTTTTTGCAGGATCCAGATG	0.527000			A		serous ovarian								41	59					0	0	0.002522	0	0
LRP1B	53353	broad.mit.edu	37	2	141079550	141079550	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:141079550T>A	ENST00000389484.3	-	82	13593	c.12622A>T	c.(12622-12624)Aat>Tat	p.N4208Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4208					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.N4208Y(1)		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)		CTGTCATCATTGCAGGTGCCA	0.363000										TSP Lung(27;0.18)			13	123					0	0	0.003163	0	0
ZNF467	168544	broad.mit.edu	37	7	149467542	149467542	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:149467542C>A	ENST00000302017.3	-	3	551	c.138G>T	c.(136-138)ctG>ctT	p.L46L	ZNF467_ENST00000484747.1_Silent_p.L46L	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L46L(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGCACACCCCCAGTGCTCTCT	0.597000													15	47					2.31682e-05	2.93135e-05	0.003163	1	0
FGF5	2250	broad.mit.edu	37	4	81188290	81188290	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:81188290C>A	ENST00000456523.3	+	1	498	c.312C>A	c.(310-312)taC>taA	p.Y104*	FGF5_ENST00000312465.7_Nonsense_Mutation_p.Y104*	NM_033143.2	NP_149134.1	P12034	FGF5_HUMAN	fibroblast growth factor 5	104					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	p.Y104*(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						TGCAGATCTACCCGGATGGCA	0.577000													16	86					1.5739e-10	2.45783e-10	0.004007	1	0
TRIM49C	642612	broad.mit.edu	37	11	89774530	89774530	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:89774530C>G	ENST00000448984.1	+	8	1500	c.1171C>G	c.(1171-1173)Ctc>Gtc	p.L391V	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN	tripartite motif containing 49C	391	B30.2/SPRY.					intracellular	zinc ion binding	p.L391V(2)		endometrium(3)|kidney(1)|lung(4)	8						TCAATGCAGTCTCTTTACCAC	0.418000													9	111					0	0	0.000978	0	0
CCBL1	883	broad.mit.edu	37	9	131597919	131597919	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:131597919C>T	ENST00000436267.2	-	12	1314	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	CCBL1_ENST00000320665.6_Missense_Mutation_p.E245K|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000302586.3_Missense_Mutation_p.E295K			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	295					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding	p.E295K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	AGCAGCTGCTCCCGTTCAAAG	0.602000													3	24					0	0	0.004672	0	0
SEPT1	1731	broad.mit.edu	37	16	30392511	30392511	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:30392511G>T	ENST00000321367.3	-	7	681	c.636C>A	c.(634-636)atC>atA	p.I212I	SEPT1_ENST00000605106.1_Silent_p.I170I|SEPT1_ENST00000571393.1_Silent_p.I165I	NM_052838.4	NP_443070.5	Q8WYJ6	SEPT1_HUMAN	septin 1	165					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding	p.I165I(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			TGACTGGGATGATGTTGACTT	0.587000													20	130					1.96292e-10	3.05098e-10	0.001523	1	0
EPHB6	2051	broad.mit.edu	37	7	142568025	142568025	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:142568025G>T	ENST00000392957.2	+	18	3453	c.2666G>T	c.(2665-2667)gGa>gTa	p.G889V	EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000411471.2_Missense_Mutation_p.G612V|EPHB6_ENST00000442129.1_Missense_Mutation_p.G889V	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	889	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.G874V(1)		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)					TGTCCTCCTGGATTACATCTA	0.532000													50	296					2.9001e-28	5.62403e-28	0.003610	1	0
LILRA2	11027	broad.mit.edu	37	19	55098788	55098788	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:55098788G>T	ENST00000251377.3	+	9	1560	c.1427G>T	c.(1426-1428)aGc>aTc	p.S476I	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.S459I|LILRA2_ENST00000391737.1_Missense_Mutation_p.S447I|LILRA2_ENST00000391738.3_Missense_Mutation_p.S476I|LILRB1_ENST00000396321.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.S459I(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		AGCCAGAGAAGCCTACAAGAT	0.567000													19	26					2.35188e-11	3.74317e-11	0.006122	1	0
TEP1	7011	broad.mit.edu	37	14	20872001	20872001	+	Missense_Mutation	SNP	C	C	A	rs34770935	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:20872001C>A	ENST00000262715.5	-	6	1115	c.1075G>T	c.(1075-1077)Gcc>Tcc	p.A359S	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	359	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.A359S(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CGGAGACAGGCGGGCAGGGGC	0.557000													8	145					0.00448238	0.00518158	0.004482	1	0
ATP7B	540	broad.mit.edu	37	13	52520526	52520526	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:52520526C>A	ENST00000242839.4	-	13	3110	c.2954G>T	c.(2953-2955)tGc>tTc	p.C985F	ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000344297.5_Missense_Mutation_p.C778F|ATP7B_ENST00000400370.3_Missense_Mutation_p.C555F|ATP7B_ENST00000400366.3_Missense_Mutation_p.C874F|ATP7B_ENST00000417240.2_Missense_Mutation_p.C257F|ATP7B_ENST00000448424.2_Missense_Mutation_p.C907F|ATP7B_ENST00000418097.2_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	985			C -> Y (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	p.C985F(1)		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)		CCCCAGGGAGCAGGGGCAGGC	0.627000									Wilson disease				8	37					1.12685e-05	1.45231e-05	0.004482	1	0
ACKR3	57007	broad.mit.edu	37	2	237489326	237489326	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:237489326A>T	ENST00000272928.3	+	2	528	c.218A>T	c.(217-219)aAg>aTg	p.K73M		NM_020311.2	NP_064707.1			atypical chemokine receptor 3									p.K73M(1)									ATCCAGGCCAAGACCACAGGC	0.532000													17	27					0	0	0.004990	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519998	113519998	+	Silent	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:113519998G>C	ENST00000284601.3	-	4	1217	c.1149C>G	c.(1147-1149)tcC>tcG	p.S383S		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	383					glycogen metabolic process	integral to membrane		p.S383S(2)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTCCCTTTACGGAGCTTTCTG	0.398000													61	179					0	0	0.003610	0	0
CSMD3	114788	broad.mit.edu	37	8	113301627	113301627	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:113301627C>A	ENST00000297405.5	-	57	9359	c.9115G>T	c.(9115-9117)Ggc>Tgc	p.G3039C	CSMD3_ENST00000343508.3_Missense_Mutation_p.G2999C|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2969C|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2870C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3039	Sushi 21.					integral to membrane|plasma membrane		p.G2999C(1)|p.G3039C(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTCCAATGGCCATTCAATTGG	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			60	95					3.39796e-24	6.41708e-24	0.003610	1	0
KCNH1	3756	broad.mit.edu	37	1	211192227	211192227	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:211192227G>A	ENST00000367007.4	-	6	1099	c.930C>T	c.(928-930)aaC>aaT	p.N310N	KCNH1_ENST00000271751.4_Silent_p.N310N	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	310					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	p.N310N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TCTCAAAAGCGTTGATGACAT	0.483000													38	181					0	0	0.006230	0	0
TRIM29	23650	broad.mit.edu	37	11	119998125	119998125	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:119998125A>C	ENST00000341846.5	-	3	1474	c.1053T>G	c.(1051-1053)gaT>gaG	p.D351E	TRIM29_ENST00000541857.1_Missense_Mutation_p.D84E|TRIM29_ENST00000529044.1_Missense_Mutation_p.D90E	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	351					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D351E(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		TGGCTCTCTCATCCAGAGCAT	0.572000													11	146					0	0	0.001368	0	0
KMT2C	58508	broad.mit.edu	37	7	151945260	151945260	+	Silent	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:151945260T>C	ENST00000355193.2	-	14	2477	c.2259A>G	c.(2257-2259)tcA>tcG	p.S753S	KMT2C_ENST00000262189.6_Silent_p.S753S					lysine (K)-specific methyltransferase 2C									p.S753S(2)									CTCCTTGGTATGAAACATCTT	0.393000													11	239					0	0	0.008291	0	0
OR2M2	391194	broad.mit.edu	37	1	248344254	248344254	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:248344254T>C	ENST00000359682.2	+	1	967	c.967T>C	c.(967-969)Ttt>Ctt	p.F323L		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	323					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F323L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	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)			TGTTTTGCTGTTTGCTAAATT	0.363000													21	296					0	0	0.001882	0	0
TAB1	10454	broad.mit.edu	37	22	39822857	39822857	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:39822857C>A	ENST00000216160.6	+	9	1133	c.1071C>A	c.(1069-1071)gaC>gaA	p.D357E	TAB1_ENST00000331454.3_Missense_Mutation_p.D357E	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	357	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	p.D357E(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GGCACGAGGACATGACCCTGC	0.662000													13	118					1.05317e-09	1.60097e-09	0.002450	1	0
PARM1	25849	broad.mit.edu	37	4	75937772	75937772	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:75937772C>T	ENST00000307428.7	+	2	393	c.181C>T	c.(181-183)Cac>Tac	p.H61Y	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	61					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane		p.H61Y(2)|p.H120Y(1)		cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CAACGGCACTCACAACAACTC	0.517000													7	68					0	0	0.001984	0	0
SIMC1	375484	broad.mit.edu	37	5	175751758	175751758	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:175751758G>C	ENST00000443967.1	+	9	2519	c.2112G>C	c.(2110-2112)caG>caC	p.Q704H	SIMC1_ENST00000341199.6_Missense_Mutation_p.Q289H|SIMC1_ENST00000332772.4_Missense_Mutation_p.Q165H|SIMC1_ENST00000430704.2_Missense_Mutation_p.Q289H					SUMO-interacting motifs containing 1									p.Q704H(1)									AGAGGAGCCAGAGGTGAGTCT	0.398000													3	5					0	0	0.000248	0	0
APOB	338	broad.mit.edu	37	2	21246498	21246498	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:21246498C>G	ENST00000233242.1	-	17	2630	c.2503G>C	c.(2503-2505)Gcc>Ccc	p.A835P		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	835					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.A835P(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGTTCAAAGGCATTCTCCATG	0.448000													9	40					0	0	0.004482	0	0
IGLV3-10	28803	broad.mit.edu	37	22	23154706	23154706	+	RNA	SNP	C	C	A	rs1065470		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:23154706C>A	ENST00000390315.2	+	0	310																											GCCACCTTGACTATCAGTGGG	0.557000													6	37					3.59834e-05	4.50131e-05	0.001168	1	0
COL5A1	1289	broad.mit.edu	37	9	137703228	137703228	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:137703228C>T	ENST00000371817.3	+	45	3986	c.3572C>T	c.(3571-3573)cCa>cTa	p.P1191L		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1191	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	p.P1191L(1)		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)		ATCGGACAGCCAGGCCCCTCT	0.592000											OREG0019605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	162					0	0	0.001786	0	0
VIL1	7429	broad.mit.edu	37	2	219299256	219299256	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:219299256C>A	ENST00000248444.5	+	14	1596	c.1508C>A	c.(1507-1509)aCc>aAc	p.T503N	VIL1_ENST00000392114.2_Missense_Mutation_p.T192N	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	503	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	p.T503N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGGGAGGCACCTCCCGAACT	0.602000													23	60					8.24728e-16	1.43808e-15	0.004656	1	0
BICC1	80114	broad.mit.edu	37	10	60577388	60577388	+	Missense_Mutation	SNP	G	G	A	rs141599424		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:60577388G>A	ENST00000373886.3	+	19	2604	c.2600G>A	c.(2599-2601)tGt>tAt	p.C867Y		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	867					multicellular organismal development		RNA binding	p.C867Y(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						AGCAATGGCTGTAACTTAAAT	0.468000													16	47					0	0	0.003163	0	0
PRDM9	56979	broad.mit.edu	37	5	23526486	23526486	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:23526486C>A	ENST00000296682.3	+	11	1471	c.1289C>A	c.(1288-1290)cCc>cAc	p.P430H		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	430					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.P430H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CCAGAGAATCCCTGCCCAGGG	0.453000										HNSCC(3;0.000094)			46	114					2.51966e-14	4.268e-14	0.003610	1	0
PCDH18	54510	broad.mit.edu	37	4	138449939	138449939	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:138449939C>A	ENST00000344876.4	-	2	2909	c.2523G>T	c.(2521-2523)ggG>ggT	p.G841G	PCDH18_ENST00000511115.1_Silent_p.G21G|PCDH18_ENST00000507846.1_Silent_p.G620G|PCDH18_ENST00000412923.2_Silent_p.G840G|PCDH18_ENST00000510305.1_Silent_p.G52G	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	841					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G841G(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GCTGATATTGCCCCTGGTGAA	0.408000													23	107					1.1804e-14	2.02633e-14	0.003954	1	0
OSGEP	55644	broad.mit.edu	37	14	20917122	20917122	+	Splice_Site	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:20917122C>A	ENST00000206542.4	-	5	979		c.e5+1		OSGEP_ENST00000554249.1_Splice_Site|OSGEP_ENST00000555656.1_5'UTR	NM_017807.3	NP_060277.1	Q9NPF4	OSGEP_HUMAN	O-sialoglycoprotein endopeptidase						proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding	p.?(1)		endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		TGTCCCCTTACCGCTTTGCCA	0.458000													18	241					1.33834e-09	2.02335e-09	0.007413	1	0
AGTR1	185	broad.mit.edu	37	3	148459392	148459392	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:148459392C>T	ENST00000542281.1	+	4	1016	c.570C>T	c.(568-570)acC>acT	p.T190T	AGTR1_ENST00000474935.1_Silent_p.T190T|AGTR1_ENST00000461609.1_Silent_p.T190T|AGTR1_ENST00000349243.3_Silent_p.T190T|AGTR1_ENST00000475347.1_Silent_p.T190T|AGTR1_ENST00000497524.1_Silent_p.T190T|AGTR1_ENST00000402260.1_Silent_p.T190T|AGTR1_ENST00000404754.2_Silent_p.T190T|AGTR1_ENST00000418473.2_Silent_p.T190T	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	190					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	p.T190T(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	AAAATTCAACCCTCCCGATAG	0.398000													9	76					0	0	0.008291	0	0
NR1I3	9970	broad.mit.edu	37	1	161205726	161205726	+	Translation_Start_Site	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:161205726G>T	ENST00000515621.1	-	0	171				NR1I3_ENST00000412844.2_Missense_Mutation_p.A21D|NR1I3_ENST00000511944.1_Missense_Mutation_p.A50D|NR1I3_ENST00000428574.2_Missense_Mutation_p.A50D|NR1I3_ENST00000442691.2_Missense_Mutation_p.A50D|NR1I3_ENST00000437437.2_Missense_Mutation_p.A21D|NR1I3_ENST00000367979.2_Missense_Mutation_p.A50D|NR1I3_ENST00000367985.3_Missense_Mutation_p.A50D|NR1I3_ENST00000512372.1_Missense_Mutation_p.A21D|NR1I3_ENST00000367980.2_Missense_Mutation_p.A50D|NR1I3_ENST00000502985.1_Missense_Mutation_p.A50D|NR1I3_ENST00000367981.3_Missense_Mutation_p.A21D|NR1I3_ENST00000367982.4_Missense_Mutation_p.A50D|NR1I3_ENST00000506209.1_Missense_Mutation_p.A21D|NR1I3_ENST00000367983.4_Missense_Mutation_p.A50D|NR1I3_ENST00000508740.1_Missense_Mutation_p.A21D|NR1I3_ENST00000511748.1_Missense_Mutation_p.A21D|NR1I3_ENST00000504010.1_Missense_Mutation_p.A21D|NR1I3_ENST00000367984.4_Missense_Mutation_p.A50D|NR1I3_ENST00000515452.1_Missense_Mutation_p.A50D|NR1I3_ENST00000508387.1_Missense_Mutation_p.A21D|NR1I3_ENST00000505005.1_Missense_Mutation_p.A50D|NR1I3_ENST00000511676.1_Missense_Mutation_p.A21D			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3						regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding	p.A50D(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ACAGCTTCCAGCAAAGGGGCA	0.542000													10	70					2.80697e-09	4.20919e-09	0.000978	1	0
OR5M1	390168	broad.mit.edu	37	11	56380835	56380835	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:56380835C>A	ENST00000526538.1	-	1	143	c.144G>T	c.(142-144)ctG>ctT	p.L48L		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L48L(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TGGTCCTGATCAGCAGGATCA	0.478000													25	147					1.66031e-10	2.58547e-10	0.003954	1	0
COL6A1	1291	broad.mit.edu	37	21	47410292	47410292	+	Splice_Site	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr21:47410292G>C	ENST00000361866.3	+	13	1072	c.957_splice	c.e13-1	p.G320_splice		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	320	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	p.G320R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CGCCTCACAGGGAGAGAAGGG	0.642000													3	57					0	0	0.004672	0	0
LRRC59	55379	broad.mit.edu	37	17	48474597	48474597	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:48474597T>A	ENST00000225972.7	-	1	317	c.82A>T	c.(82-84)Aat>Tat	p.N28Y	RP1-117B12.4_ENST00000511627.1_RNA|LRRC59_ENST00000576448.1_Missense_Mutation_p.N28Y	NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	28						endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding	p.N28Y(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			GGGACCTCATTCAGGTCGCTG	0.662000											OREG0024565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	71					0	0	0.004482	0	0
ARID1B	57492	broad.mit.edu	37	6	157505488	157505488	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:157505488G>A	ENST00000346085.5	+	13	3470	c.3469G>A	c.(3469-3471)Gaa>Aaa	p.E1157K	ARID1B_ENST00000350026.5_Missense_Mutation_p.E1144K|ARID1B_ENST00000367148.1_Missense_Mutation_p.E1197K|ARID1B_ENST00000275248.4_Missense_Mutation_p.E1139K	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1144					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.E1157K(1)|p.E1139K(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTGCAAGATCGAACGTGGGGA	0.577000													5	53					0	0	0.001168	0	0
PCDH1	5097	broad.mit.edu	37	5	141236969	141236969	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:141236969T>A	ENST00000287008.3	-	4	3314	c.3167A>T	c.(3166-3168)cAc>cTc	p.H1056L	PCDH1_ENST00000503492.1_Missense_Mutation_p.H324L	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	p.H1056L(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		ATAGTAACTGTGCTGGGATGG	0.617000													8	24					0	0	0.003080	0	0
BMP4	652	broad.mit.edu	37	14	54416766	54416766	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:54416766C>A	ENST00000245451.4	-	4	1604	c.1211G>T	c.(1210-1212)gGa>gTa	p.G404V	BMP4_ENST00000417573.1_Missense_Mutation_p.G404V|BMP4_ENST00000559087.1_Missense_Mutation_p.G404V|BMP4_ENST00000558984.1_Missense_Mutation_p.G404V	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	404					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	p.G404V(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						GCACCCACATCCCTCTACTAC	0.498000													21	36					8.10497e-08	1.14895e-07	0.001523	1	0
PLXNA4	91584	broad.mit.edu	37	7	131865426	131865426	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:131865426C>A	ENST00000359827.3	-	19	4520	c.3558G>T	c.(3556-3558)ggG>ggT	p.G1186G	PLXNA4_ENST00000321063.4_Silent_p.G1186G			Q9HCM2	PLXA4_HUMAN	plexin A4	1186	IPT/TIG 4.					integral to membrane|intracellular|plasma membrane		p.G1186G(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ACGGCTTCTCCCCAACCAGCA	0.602000													14	35					5.01169e-05	6.24581e-05	0.004990	1	0
IFNW1	3467	broad.mit.edu	37	9	21141502	21141502	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:21141502C>A	ENST00000380229.2	-	1	642	c.68G>T	c.(67-69)gGc>gTc	p.G23V		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	23				LG -> EF (in Ref. 7; AAA70091).	cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding	p.G23V(1)		endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CAGATCACAGCCCAGAGATCC	0.527000													7	211					3.09899e-07	4.25502e-07	0.004482	1	0
CD40LG	959	broad.mit.edu	37	X	135741286	135741286	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:135741286A>C	ENST00000370629.2	+	5	554	c.498A>C	c.(496-498)caA>caC	p.Q166H	CD40LG_ENST00000370628.2_Missense_Mutation_p.Q145H	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	166					anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding	p.Q166H(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	TTAAAAGACAAGGACTCTATT	0.453000									Immune Deficiency with Hyper-IgM				116	177					0	0	0.003610	0	0
VN1R2	317701	broad.mit.edu	37	19	53761993	53761993	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:53761993G>T	ENST00000341702.3	+	1	449	c.365G>T	c.(364-366)aGa>aTa	p.R122I		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	122					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	p.R122I(1)		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)		TACAAGCCAAGATCCACAGAT	0.418000													25	60					3.7963e-18	6.83499e-18	0.003330	1	0
CD1C	911	broad.mit.edu	37	1	158262102	158262102	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:158262102C>A	ENST00000368170.3	+	3	836	c.557C>A	c.(556-558)cCc>cAc	p.P186H		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	186					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.P186H(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AGCACTTGCCCCCGATTTCTC	0.453000													160	362					1.11784e-71	2.25743e-71	0.003610	1	0
LSAMP	4045	broad.mit.edu	37	3	116163786	116163786	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:116163786G>T	ENST00000490035.1	-	1	592	c.93C>A	c.(91-93)agC>agA	p.S31R	LSAMP_ENST00000539563.1_Missense_Mutation_p.S28R	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	31	Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane		p.S31R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		TAAAATCCACGCTGCGAACAG	0.577000													10	28					1.04858e-14	1.8019e-14	0.006214	1	0
MATK	4145	broad.mit.edu	37	19	3785124	3785124	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:3785124G>T	ENST00000310132.6	-	2	408	c.10C>A	c.(10-12)Cga>Aga	p.R4R	MATK_ENST00000585778.1_Silent_p.R4R|MATK_ENST00000395045.2_Intron|MATK_ENST00000395040.2_Intron	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	4					cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.R4R(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGAGCCTCGCCCCGCCATC	0.627000													6	19					0.00198382	0.00231911	0.001984	1	0
CDH10	1008	broad.mit.edu	37	5	24537761	24537761	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:24537761C>A	ENST00000264463.4	-	3	761	c.254G>T	c.(253-255)gGa>gTa	p.G85V		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	85	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G85V(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGATCCATCTCCTTTATCTTG	0.363000										HNSCC(23;0.051)			11	57					3.07112e-06	4.04287e-06	0.000978	1	0
ZNF658	26149	broad.mit.edu	37	9	40774548	40774548	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:40774548A>G	ENST00000602553.1	-	5	1021	c.727T>C	c.(727-729)Tgt>Cgt	p.C243R	ZNF658_ENST00000441795.1_Missense_Mutation_p.C241R|ZNF658_ENST00000377626.3_Missense_Mutation_p.C243R			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C243R(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCATCCTTACAGGACTTTTCT	0.333000													6	103					0	0	0.001984	0	0
LRP2	4036	broad.mit.edu	37	2	170012818	170012818	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:170012818C>T	ENST00000263816.3	-	65	12402	c.12117G>A	c.(12115-12117)atG>atA	p.M4039I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4039	EGF-like 15; calcium-binding (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.M4039I(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GGCGGTCACTCATAGACGTGA	0.433000													10	122					0	0	0.008291	0	0
PTGFR	5737	broad.mit.edu	37	1	78958528	78958528	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:78958528G>C	ENST00000370756.3	+	2	337	c.100G>C	c.(100-102)Gta>Cta	p.V34L	PTGFR_ENST00000370757.3_Missense_Mutation_p.V34L|PTGFR_ENST00000370758.1_Missense_Mutation_p.V34L	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	34					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	p.V34L(2)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	ATTTTTTTCAGTAATCTTCAT	0.443000													18	90					0	0	0.007413	0	0
CMA1	1215	broad.mit.edu	37	14	24976618	24976618	+	Silent	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:24976618A>G	ENST00000250378.3	-	2	182	c.153T>C	c.(151-153)tgT>tgC	p.C51C	CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	51	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	p.C51C(1)		kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		GGAAACCACCACAAAATTTTG	0.488000													64	115					0	0	0.003610	0	0
FAM171B	165215	broad.mit.edu	37	2	187626951	187626951	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:187626951C>A	ENST00000304698.5	+	8	2085	c.1882C>A	c.(1882-1884)Ctg>Atg	p.L628M		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	628						integral to membrane	DNA binding	p.L628M(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AAGCAGCTTACTGGAATCCGT	0.493000													40	78					1.03325e-14	1.7774e-14	0.002852	1	0
KCNU1	157855	broad.mit.edu	37	8	36671868	36671868	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:36671868C>T	ENST00000399881.3	+	8	913	c.876C>T	c.(874-876)ttC>ttT	p.F292F		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	292						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.F292F(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GACGGACCTTCATCATGTTCT	0.353000													8	20					0	0	0.008291	0	0
FAM74A3	728495	broad.mit.edu	37	9	40716166	40716166	+	RNA	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:40716166G>T	ENST00000604146.1	+	0	505					NR_026801.1													p.E106D(1)		endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CATGGAGAGAGCTCAAAGGCT	0.483000													16	66					1.10923e-09	1.68465e-09	0.002780	1	0
C5orf42	65250	broad.mit.edu	37	5	37162576	37162576	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:37162576T>C	ENST00000274258.7	-	38	7908	c.4321A>G	c.(4321-4323)Aca>Gca	p.T1441A	C5orf42_ENST00000508244.1_Missense_Mutation_p.T2561A|C5orf42_ENST00000425232.2_Missense_Mutation_p.T2561A			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2561								p.T1441A(1)|p.T2561A(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CCTGGGTCTGTATTTGTACTT	0.299000													29	77					0	0	0.007291	0	0
TTN	7273	broad.mit.edu	37	2	179473146	179473146	+	Silent	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:179473146T>A	ENST00000589042.1	-	275	52688	c.52464A>T	c.(52462-52464)ctA>ctT	p.L17488L	TTN_ENST00000359218.5_Silent_p.L8548L|TTN_ENST00000342175.6_Silent_p.L8615L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.L15847L|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.L14920L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Silent_p.L8423L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15847	Ig-like 103.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L14920L(2)|p.L8423L(1)|p.L8615L(1)|p.L8548L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCATTTCACTAGCATACTGT	0.388000													9	23					0	0	0.004482	0	0
CCDC63	160762	broad.mit.edu	37	12	111330915	111330915	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:111330915G>C	ENST00000308208.5	+	9	1352	c.1110G>C	c.(1108-1110)ttG>ttC	p.L370F	CCDC63_ENST00000552694.1_Missense_Mutation_p.L291F|CCDC63_ENST00000545036.1_Missense_Mutation_p.L330F	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	370								p.L370F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						AGCAGAAATTGTCCCACGATG	0.547000													34	53					0	0	0.004878	0	0
HGF	3082	broad.mit.edu	37	7	81350104	81350104	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:81350104G>T	ENST00000222390.5	-	10	1454	c.1228C>A	c.(1228-1230)Cta>Ata	p.L410I	HGF_ENST00000457544.2_Missense_Mutation_p.L405I	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	410	Kringle 4.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.L410I(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GAACATGTTAGTCCAGATCTT	0.338000													14	35					3.27435e-08	4.706e-08	0.002450	1	0
ASAP1	50807	broad.mit.edu	37	8	131414157	131414157	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:131414157A>T	ENST00000357668.1	-	1	60	c.33T>A	c.(31-33)ttT>ttA	p.F11L	ASAP1_ENST00000518721.1_Missense_Mutation_p.F11L|ASAP1_ENST00000520625.1_5'UTR			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	11					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	p.F11L(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CTCTCGACGAAAAACTGGAGA	0.517000													43	80					0	0	0.003610	0	0
FZD1	8321	broad.mit.edu	37	7	90895699	90895699	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:90895699G>T	ENST00000287934.2	+	1	1917	c.1504G>T	c.(1504-1506)Ggc>Tgc	p.G502C		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	502					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	p.G502C(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CCTGTTTATCGGCACGTCCTT	0.602000													12	169					1.08611e-07	1.52147e-07	0.000978	1	0
NOL10	79954	broad.mit.edu	37	2	10729817	10729817	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:10729817G>A	ENST00000345985.3	-	17	1443	c.1333C>T	c.(1333-1335)Caa>Taa	p.Q445*	NOL10_ENST00000538384.1_Nonsense_Mutation_p.Q469*|NOL10_ENST00000381685.5_Nonsense_Mutation_p.Q495*|AC092687.5_ENST00000414538.1_RNA|NOL10_ENST00000542668.1_Nonsense_Mutation_p.Q445*	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	495						nucleolus		p.Q445*(1)				Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		TCATCTACTTGGAAGTCAGGG	0.328000													4	9					0	0	0.000248	0	0
ABL1	25	broad.mit.edu	37	9	133760684	133760684	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:133760684A>G	ENST00000318560.5	+	11	3388	c.3007A>G	c.(3007-3009)Atc>Gtc	p.I1003V		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	1003	F-actin-binding.|Pro-rich.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CACCGCCTTCATCCCTCTCAT	0.662000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								4	100					0	0	0.000602	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103182715	103182715	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:103182715G>T	ENST00000375735.2	+	79	11746	c.11602G>T	c.(11602-11604)Gca>Tca	p.A3868S	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.A3875S|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	3868	AAA 6 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	p.A1308S(1)		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)		CTTCAGTCTTGCATGGTTTCA	0.338000													29	134					2.85442e-18	5.14477e-18	0.002096	1	0
NCAPD3	23310	broad.mit.edu	37	11	134073739	134073739	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:134073739C>T	ENST00000534548.2	-	11	1342	c.1278G>A	c.(1276-1278)gaG>gaA	p.E426E		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	426					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.E426E(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TGTTATCCACCTCTCTTTCAG	0.438000													31	113					0	0	0.002096	0	0
LTBP1	4052	broad.mit.edu	37	2	33567972	33567972	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:33567972C>A	ENST00000404816.2	+	25	4151	c.3798C>A	c.(3796-3798)tcC>tcA	p.S1266S	LTBP1_ENST00000354476.3_Silent_p.S1267S|LTBP1_ENST00000418533.2_Intron|LTBP1_ENST00000272273.5_Intron|LTBP1_ENST00000402934.1_Silent_p.S887S|LTBP1_ENST00000404525.1_Silent_p.S887S|LTBP1_ENST00000407925.1_Silent_p.S940S|LTBP1_ENST00000390003.4_Silent_p.S941S			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1266	EGF-like 13; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.S1267S(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CAGCTGGCTCCTTCCGCTGCC	0.448000													10	48					2.17888e-05	2.76524e-05	0.006214	1	0
DUSP28	285193	broad.mit.edu	37	2	241500849	241500849	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:241500849G>A	ENST00000405954.1	+	2	879	c.496G>A	c.(496-498)Gag>Aag	p.E166K	DUSP28_ENST00000343217.2_Missense_Mutation_p.E166K			Q4G0W2	DUS28_HUMAN	dual specificity phosphatase 28	166							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.E166K(1)		lung(2)|upper_aerodigestive_tract(1)	3		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;2.16e-31)|all cancers(36;5.56e-29)|OV - Ovarian serous cystadenocarcinoma(60;7.57e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.06e-06)|Lung(119;0.00164)|Colorectal(34;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.00802)|COAD - Colon adenocarcinoma(134;0.0311)		CCTGCAGGGAGAGCCCCCAGC	0.622000													5	31					0	0	0.001168	0	0
TSIX	9383	broad.mit.edu	37	X	73046399	73046399	+	RNA	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:73046399A>G	ENST00000604411.1	+	0	34360				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						CAAAAGAATCAGGCTTAAAGA	0.388000													3	87					0	0	0.004672	0	0
ING1	3621	broad.mit.edu	37	13	111371668	111371668	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:111371668G>T	ENST00000375774.3	+	2	1120	c.658G>T	c.(658-660)Gcg>Tcg	p.A220S	ING1_ENST00000375775.3_Missense_Mutation_p.A8S|ING1_ENST00000464141.1_3'UTR|ING1_ENST00000338450.7_Missense_Mutation_p.A33S|ING1_ENST00000333219.7_Missense_Mutation_p.A77S	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	220					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	p.A77S(1)|p.A33S(1)|p.A220S(1)		endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGTGCAGCGCGCGCTGATCCG	0.652000													19	55					9.7654e-05	0.000120256	0.007413	1	0
SUN3	256979	broad.mit.edu	37	7	48046855	48046855	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:48046855C>A	ENST00000453192.2	-	6	606	c.363G>T	c.(361-363)ctG>ctT	p.L121L	SUN3_ENST00000297325.4_Silent_p.L133L|SUN3_ENST00000395572.2_Silent_p.L133L|SUN3_ENST00000412142.1_Silent_p.L33L			Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	133						integral to membrane		p.L133L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCAATGCCTTCAGGACATCTA	0.438000													13	69					1.5842e-08	2.33136e-08	0.001855	1	0
ZFHX4	79776	broad.mit.edu	37	8	77767649	77767649	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:77767649G>T	ENST00000521891.2	+	10	8940	c.8492G>T	c.(8491-8493)gGa>gTa	p.G2831V	ZFHX4_ENST00000518282.1_Missense_Mutation_p.G2805V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G2786V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G2786V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2786						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G2815V(1)		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)			GGAAGTTCCGGAGATGTGAAA	0.488000										HNSCC(33;0.089)			10	29					0.000442599	0.000529715	0.006214	1	0
RECK	8434	broad.mit.edu	37	9	36117030	36117030	+	Silent	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:36117030A>T	ENST00000377966.3	+	17	2675	c.2109A>T	c.(2107-2109)ggA>ggT	p.G703G		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	703	Kazal-like 2.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	p.G703G(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			ATAAATTTGGATGTAGCCAGT	0.493000													34	125					0	0	0.004878	0	0
VPS13D	55187	broad.mit.edu	37	1	12414217	12414217	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:12414217G>T	ENST00000358136.3	+	47	9748	c.9618G>T	c.(9616-9618)acG>acT	p.T3206T	VPS13D_ENST00000356315.4_Silent_p.T3181T	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3205					protein localization			p.T3206T(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTAATGGGACGCTGAAACCTG	0.433000													19	67					2.37509e-13	3.93871e-13	0.001523	1	0
GPN1	11321	broad.mit.edu	37	2	27857779	27857779	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:27857779C>A	ENST00000264718.3	+	6	480	c.459C>A	c.(457-459)atC>atA	p.I153I	GPN1_ENST00000458167.2_Silent_p.I44I|GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000503738.1_Silent_p.I44I|GPN1_ENST00000424214.1_Silent_p.I60I|ZNF512_ENST00000556601.1_3'UTR|GPN1_ENST00000407583.3_Silent_p.I127I|GPN1_ENST00000515877.1_Silent_p.I60I|RP11-158I13.2_ENST00000505973.1_RNA	NM_007266.3	NP_009197.2	Q9HCN4	GPN1_HUMAN	GPN-loop GTPase 1	139						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding	p.I139I(2)		endometrium(1)|large_intestine(1)|lung(12)	14						GGACAATTATCACTGAAGCCC	0.403000													14	55					1.49906e-05	1.90978e-05	0.002450	1	0
KHDRBS2	202559	broad.mit.edu	37	6	62604730	62604730	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:62604730C>A	ENST00000281156.4	-	6	898	c.620G>T	c.(619-621)gGg>gTg	p.G207V		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	p.G207V(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		AATGGCACCCCCACGGCCCCT	0.532000													13	33					2.23348e-06	2.96607e-06	0.004007	1	0
IGKV1D-43	28891	broad.mit.edu	37	2	90249175	90249175	+	RNA	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:90249175C>A	ENST00000468879.1	+	0	312																											GTCACCATCACTTGCTGGGCC	0.468000													22	228					1.64293e-13	2.73274e-13	0.003330	1	0
ABCB5	340273	broad.mit.edu	37	7	20691247	20691247	+	Splice_Site	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:20691247G>T	ENST00000404938.2	+	13	2188		c.e13+1		ABCB5_ENST00000477094.1_3'UTR|ABCB5_ENST00000443026.2_Splice_Site|ABCB5_ENST00000406935.1_Splice_Site|ABCB5_ENST00000258738.6_Splice_Site	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5						regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.?(3)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GTTTCCTAATGTGAGTACACT	0.428000													26	54					1.66031e-10	2.58547e-10	0.003954	1	0
ADCY7	113	broad.mit.edu	37	16	50338319	50338319	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:50338319G>C	ENST00000394697.2	+	11	1757	c.1417G>C	c.(1417-1419)Gac>Cac	p.D473H	ADCY7_ENST00000254235.3_Missense_Mutation_p.D473H|ADCY7_ENST00000566433.2_Missense_Mutation_p.D473H|ADCY7_ENST00000538642.1_Missense_Mutation_p.D473H|ADCY7_ENST00000537579.1_Intron			P51828	ADCY7_HUMAN	adenylate cyclase 7	473					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.D473H(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	GCCCAAGGGGGACGCGGCCCT	0.697000													4	29					0	0	0.000248	0	0
SYT4	6860	broad.mit.edu	37	18	40853935	40853935	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:40853935C>T	ENST00000255224.3	-	2	827	c.459G>A	c.(457-459)aaG>aaA	p.K153K	SYT4_ENST00000590752.1_Silent_p.K135K|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	153	Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	p.K153K(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						GAGTTCCCAGCTTCTCTTGTT	0.453000													6	49					0	0	0.001168	0	0
LGR6	59352	broad.mit.edu	37	1	202288240	202288240	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:202288240C>G	ENST00000367278.3	+	18	2898	c.2809C>G	c.(2809-2811)Ctg>Gtg	p.L937V	LGR6_ENST00000255432.7_Missense_Mutation_p.L885V|LGR6_ENST00000439764.2_Missense_Mutation_p.L798V	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	937						integral to membrane|plasma membrane	protein-hormone receptor activity	p.L937V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGGAGAACTGCTGCTGAGGGC	0.612000													18	63					0	0	0.008871	0	0
FAT4	79633	broad.mit.edu	37	4	126372972	126372972	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:126372972C>T	ENST00000394329.3	+	9	10814	c.10801C>T	c.(10801-10803)Cat>Tat	p.H3601Y	FAT4_ENST00000335110.5_Missense_Mutation_p.H1899Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3601	Cadherin 34.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H3601Y(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGGAACTGTGCATATCACAGT	0.423000													15	106					0	0	0.003163	0	0
DCC	1630	broad.mit.edu	37	18	50994380	50994380	+	Splice_Site	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:50994380G>T	ENST00000442544.2	+	25	4352	c.3736_splice	c.e25+1	p.A1246_splice	DCC_ENST00000581580.1_Splice_Site_p.A881_splice	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1246					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.A1246S(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAACAATCCTGGTGAGTCAAT	0.448000													15	41					2.23348e-06	2.96607e-06	0.004007	1	0
EIF4G1	1981	broad.mit.edu	37	3	184052538	184052538	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:184052538G>T	ENST00000342981.4	+	32	5059	c.4645G>T	c.(4645-4647)Gca>Tca	p.A1549S	EIF4G1_ENST00000414031.1_Missense_Mutation_p.A1508S|EIF4G1_ENST00000424196.1_Missense_Mutation_p.A1555S|EIF4G1_ENST00000346169.2_Missense_Mutation_p.A1548S|EIF4G1_ENST00000435046.2_Missense_Mutation_p.A1352S|EIF4G1_ENST00000441154.1_Missense_Mutation_p.A1385S|EIF4G1_ENST00000382330.3_Missense_Mutation_p.A1555S|EIF4G1_ENST00000392537.2_Missense_Mutation_p.A1461S|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Missense_Mutation_p.A1353S|EIF4G1_ENST00000427845.1_Missense_Mutation_p.A1462S|EIF4G1_ENST00000319274.6_Missense_Mutation_p.A1548S|EIF4G1_ENST00000352767.3_Missense_Mutation_p.A1555S|EIF4G1_ENST00000350481.5_Missense_Mutation_p.A1384S|EIF4G1_ENST00000411531.1_Missense_Mutation_p.A1509S	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1548	EIF4A-binding.|W2.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.A1548S(1)|p.A1548T(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTTCTTTGACGCACTGTATGA	0.602000													5	77					0.000602214	0.0007161	0.000602	1	0
NBPF1	55672	broad.mit.edu	37	1	16918357	16918357	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:16918357G>T	ENST00000430580.2	-	7	1047	c.160C>A	c.(160-162)Cga>Aga	p.R54R		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	54						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TTCTTCTGTCGGTTGGCCAGG	0.448000													20	1428					0.000673444	0.000799083	0.008291	1	0
CYP11B2	1585	broad.mit.edu	37	8	143994039	143994039	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:143994039G>T	ENST00000323110.2	-	8	1307	c.1305C>A	c.(1303-1305)ggC>ggA	p.G435G		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	435			G -> S (in dbSNP:rs4545).		aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	p.G435G(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-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)				Candesartan(DB00796)|Metyrapone(DB01011)	GGAAGTTCCTGCCGGAGCCCC	0.627000									Familial Hyperaldosteronism type I				29	51					1.32143e-28	2.56859e-28	0.006320	1	0
CEP97	79598	broad.mit.edu	37	3	101443556	101443556	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:101443556C>T	ENST00000341893.3	+	1	788	c.36C>T	c.(34-36)ccC>ccT	p.P12P	CEP97_ENST00000327230.4_Silent_p.P12P|CEP97_ENST00000494050.1_Silent_p.P12P			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	12						centrosome|nucleus	protein binding	p.P12P(2)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						CTTTGCCTCCCGGAGAAGGTA	0.532000													9	42					0	0	0.001368	0	0
AP5S1	55317	broad.mit.edu	37	20	3804637	3804637	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:3804637G>T	ENST00000246041.2	+	3	515	c.296G>T	c.(295-297)cGc>cTc	p.R99L	AP5S1_ENST00000379567.2_Missense_Mutation_p.R99L|AP5S1_ENST00000379573.2_3'UTR			Q9NUS5	CT029_HUMAN	adaptor-related protein complex 5, sigma 1 subunit	99					double-strand break repair via homologous recombination		protein binding	p.R99L(1)									GGGGCTTTCCGCCTGGCAGCA	0.662000													10	28					1.76689e-08	2.56385e-08	0.006214	1	0
MBLAC2	153364	broad.mit.edu	37	5	89756990	89756990	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:89756990C>A	ENST00000316610.6	-	2	1309	c.834G>T	c.(832-834)tcG>tcT	p.S278S		NM_203406.1	NP_981951.1	Q68D91	MBLC2_HUMAN	metallo-beta-lactamase domain containing 2	278							hydrolase activity|metal ion binding	p.S278S(1)		kidney(1)|liver(1)|lung(3)	5						GATACTAGGGCGAGGTCCTAG	0.318000													7	10					0.00307968	0.00358504	0.003080	1	0
SSH3	54961	broad.mit.edu	37	11	67077689	67077689	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:67077689C>T	ENST00000308127.4	+	13	1740	c.1562C>T	c.(1561-1563)gCc>gTc	p.A521V	SSH3_ENST00000376757.5_3'UTR|SSH3_ENST00000308298.7_Intron	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	521					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.A521V(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			AGCCAGGCAGCCCCGAAAGAA	0.602000													27	111					0	0	0.005443	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686144	108686144	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:108686144C>A	ENST00000397688.2	-	3	959	c.590G>T	c.(589-591)gGg>gTg	p.G197V	CMKLR1_ENST00000552995.1_Missense_Mutation_p.G197V|CMKLR1_ENST00000312143.7_Missense_Mutation_p.G199V|CMKLR1_ENST00000412676.1_Missense_Mutation_p.G199V|CMKLR1_ENST00000550402.1_Missense_Mutation_p.G199V	NM_004072.2	NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	199					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	p.G197V(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						CGAGGAAGACCCAGGTGTGGA	0.567000													18	34					3.32936e-07	4.56001e-07	0.006122	1	0
OR9I1	219954	broad.mit.edu	37	11	57886367	57886367	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:57886367G>T	ENST00000302610.1	-	1	549	c.550C>A	c.(550-552)Ctg>Atg	p.L184M	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L184M(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				AGCTTCAGCAGGGGTGGGAGG	0.488000													9	39					0.00448238	0.00518158	0.004482	1	0
COL27A1	85301	broad.mit.edu	37	9	116956729	116956729	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:116956729G>T	ENST00000356083.3	+	6	2453	c.2062G>T	c.(2062-2064)Ggg>Tgg	p.G688W		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	688	Collagen-like 2.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent	p.G688W(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGCCCACGATGGGGCAAAGGT	0.527000													27	160					5.61819e-17	9.96388e-17	0.005443	1	0
TGFBR2	7048	broad.mit.edu	37	3	30715670	30715670	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:30715670A>G	ENST00000295754.5	+	5	1710	c.1328A>G	c.(1327-1329)aAg>aGg	p.K443R	TGFBR2_ENST00000359013.4_Missense_Mutation_p.K468R	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	443	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GAGTCCTTCAAGCAGACCGAT	0.493000													3	98					0	0	0.004672	0	0
BRINP3	339479	broad.mit.edu	37	1	190250803	190250803	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:190250803G>C	ENST00000367462.3	-	3	545	c.314C>G	c.(313-315)cCt>cGt	p.P105R	FAM5C_ENST00000534846.1_Intron|FAM5C_ENST00000484105.1_Intron|RP11-547I7.1_ENST00000452178.1_RNA	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		105						extracellular region		p.P105R(1)		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)					GAAGAATTCAGGGGCAAGAGG	0.413000													15	68					0	0	0.004007	0	0
MYBPC3	4607	broad.mit.edu	37	11	47360129	47360129	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:47360129C>A	ENST00000399249.2	-	22	2304	c.2250G>T	c.(2248-2250)acG>acT	p.T750T	MYBPC3_ENST00000256993.4_Silent_p.T749T|MYBPC3_ENST00000545968.1_Silent_p.T750T			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	749	Ig-like C2-type 5.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	p.T750T(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TCACTGTGACCGTGTAGACGC	0.632000													16	27					3.52763e-06	4.63281e-06	0.004990	1	0
FAM120B	84498	broad.mit.edu	37	6	170627006	170627006	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:170627006G>T	ENST00000476287.1	+	2	636	c.528G>T	c.(526-528)ctG>ctT	p.L176L	FAM120B_ENST00000540480.1_Silent_p.L188L|FAM120B_ENST00000537664.1_Silent_p.L199L|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	176					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.L176L(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TTGGGATTCTGGGGGAAGACA	0.478000													35	90					1.36615e-20	2.50309e-20	0.002836	1	0
DTWD1	56986	broad.mit.edu	37	15	49935624	49935624	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:49935624A>T	ENST00000251250.6	+	6	971	c.764A>T	c.(763-765)tAc>tTc	p.Y255F	DTWD1_ENST00000403028.3_Missense_Mutation_p.Y255F|DTWD1_ENST00000558653.1_Missense_Mutation_p.Y255F|DTWD1_ENST00000415425.1_Missense_Mutation_p.Y168F	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	255								p.Y255F(1)		endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		GAAGCCATTTACTACTTTCTG	0.328000													25	58					0	0	0.006320	0	0
NOS2	4843	broad.mit.edu	37	17	26116678	26116678	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:26116678G>A	ENST00000313735.6	-	3	380	c.147C>T	c.(145-147)ctC>ctT	p.L49L		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	49					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	p.L49L(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GCTGCTTGCTGAGGTTGTGAT	0.567000													27	78					0	0	0.006320	0	0
NKAPL	222698	broad.mit.edu	37	6	28227250	28227250	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:28227250G>C	ENST00000343684.3	+	1	153	c.101G>C	c.(100-102)tGt>tCt	p.C34S		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	34								p.C34S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CAGAGCAGATGTTCCTCTTGG	0.637000													16	39					0	0	0.003163	0	0
ATP2A1	487	broad.mit.edu	37	16	28905841	28905841	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:28905841G>T	ENST00000395503.4	+	11	1384	c.1200G>T	c.(1198-1200)aaG>aaT	p.K400N	ATP2A1_ENST00000536376.1_Missense_Mutation_p.K275N|ATP2A1_ENST00000357084.3_Missense_Mutation_p.K400N	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	400	Interacts with phospholamban 1 (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	p.K400N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						AGAATGATAAGCCAGTCCGGC	0.572000													8	30					5.18039e-06	6.77656e-06	0.003080	1	0
MED12L	116931	broad.mit.edu	37	3	151083776	151083776	+	Silent	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:151083776A>G	ENST00000474524.1	+	21	3257	c.3219A>G	c.(3217-3219)gtA>gtG	p.V1073V	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Silent_p.V933V	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1073					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.V1073V(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTGCACTGTAGATGTAAGTT	0.343000													16	133					0	0	0.004990	0	0
NPTX1	4884	broad.mit.edu	37	17	78444785	78444785	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:78444785A>C	ENST00000306773.4	-	5	1284	c.1127T>G	c.(1126-1128)cTg>cGg	p.L376R		NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	376	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding	p.L376R(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			GAAGTGGGCCAGCTCACCCAC	0.607000													4	59					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179611108	179611108	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:179611108T>C	ENST00000360870.5	-	46	16241	c.16019A>G	c.(16018-16020)cAt>cGt	p.H5340R	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8847	Ig-like 34.						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)			CATACTTTTATGGTCAGGAGT	0.338000													22	32					0	0	0.002780	0	0
XIST	7503	broad.mit.edu	37	X	73064219	73064219	+	RNA	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:73064219G>T	ENST00000429829.1	-	0	8369					NR_001564.2																						GGGAGTCCATGAGAAGGTGCC	0.423000													14	19					1.5842e-08	2.33136e-08	0.001855	1	0
FGD5	152273	broad.mit.edu	37	3	14861919	14861919	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:14861919G>T	ENST00000285046.5	+	1	1451	c.1341G>T	c.(1339-1341)caG>caT	p.Q447H	FGD5_ENST00000543601.1_Missense_Mutation_p.Q206H	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	447					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.Q206H(1)|p.Q447H(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AAGGAGGGCAGGCTGCATCGG	0.627000													15	23					1.99824e-07	2.77347e-07	0.004990	1	0
TM7SF3	51768	broad.mit.edu	37	12	27129254	27129254	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:27129254C>G	ENST00000343028.4	-	10	1451	c.1226G>C	c.(1225-1227)tGg>tCg	p.W409S	RP11-421F16.3_ENST00000500632.1_RNA	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	409						integral to membrane|plasma membrane		p.W409S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					GAAAGTGACCCAGAATACACC	0.343000													7	35					0	0	0.003080	0	0
LELP1	149018	broad.mit.edu	37	1	153177398	153177398	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:153177398A>T	ENST00000368747.1	+	2	325	c.215A>T	c.(214-216)cAg>cTg	p.Q72L		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	72	Cys/Pro-rich.							p.Q72L(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCCCTCCCCAGCCCTGCACC	0.622000													37	36					0	0	0.003271	0	0
ABCC1	4363	broad.mit.edu	37	16	16162136	16162136	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:16162136A>G	ENST00000399408.2	+	13	1976	c.1801A>G	c.(1801-1803)Atg>Gtg	p.M601V	ABCC1_ENST00000346370.5_Missense_Mutation_p.M601V|ABCC1_ENST00000349029.5_Missense_Mutation_p.M601V|ABCC1_ENST00000399410.3_Missense_Mutation_p.M601V|ABCC1_ENST00000345148.5_Missense_Mutation_p.M601V|ABCC1_ENST00000351154.5_Missense_Mutation_p.M601V			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	601	ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.M601V(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CATTCTCCCCATGGTCATCAG	0.577000													10	130					0	0	0.001368	0	0
CWF19L2	143884	broad.mit.edu	37	11	107299594	107299594	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:107299594T>A	ENST00000282251.5	-	8	1391	c.1364A>T	c.(1363-1365)cAa>cTa	p.Q455L	CWF19L2_ENST00000433523.1_Missense_Mutation_p.Q455L	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	455							catalytic activity	p.Q301L(1)|p.Q455L(1)		endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		GACTTCATCTTGTGATTTTTC	0.373000													34	329					0	0	0.002445	0	0
TARS2	80222	broad.mit.edu	37	1	150469316	150469316	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:150469316A>T	ENST00000369064.3	+	9	986	c.952A>T	c.(952-954)Agc>Tgc	p.S318C	TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000463555.1_Intron|TARS2_ENST00000369054.2_Intron|TARS2_ENST00000606933.1_Intron	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	318					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	p.S318C(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CCATGAACTGAGCCCTGGGAG	0.522000													9	93					0	0	0.008291	0	0
CCDC178	374864	broad.mit.edu	37	18	30992007	30992007	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:30992007G>T	ENST00000383096.3	-	3	228	c.46C>A	c.(46-48)Caa>Aaa	p.Q16K	CCDC178_ENST00000583930.1_Missense_Mutation_p.Q16K|CCDC178_ENST00000406524.2_Missense_Mutation_p.Q16K|CCDC178_ENST00000579947.1_Missense_Mutation_p.Q16K|CCDC178_ENST00000403303.1_Missense_Mutation_p.Q16K|CCDC178_ENST00000300227.8_Missense_Mutation_p.Q16K|CCDC178_ENST00000402325.1_Missense_Mutation_p.Q16K|CCDC178_ENST00000579916.1_Missense_Mutation_p.Q16K					coiled-coil domain containing 178									p.Q16K(2)									ATATTGGTTTGATCATCTCTA	0.279000													9	38					0.000151284	0.000185337	0.001855	1	0
CD200R1	131450	broad.mit.edu	37	3	112648058	112648058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:112648058C>A	ENST00000471858.1	-	3	662	c.430G>T	c.(430-432)Gga>Tga	p.G144*	CD200R1_ENST00000440122.2_Nonsense_Mutation_p.G167*|CD200R1_ENST00000295863.4_Nonsense_Mutation_p.G122*|CD200R1_ENST00000308611.3_Nonsense_Mutation_p.G167*|CD200R1_ENST00000490004.1_Nonsense_Mutation_p.G144*	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	144	Ig-like C2-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	p.G167*(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						AGGTGATATCCACGATGGAAA	0.428000													19	93					2.4624e-09	3.69917e-09	0.008871	1	0
KCNA6	3742	broad.mit.edu	37	12	4919230	4919230	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:4919230C>T	ENST00000433855.1	+	1	889	c.23C>T	c.(22-24)aCg>aTg	p.T8M	KCNA6_ENST00000280684.3_Missense_Mutation_p.T8M	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	8						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.T8M(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						AAATCCCTTACGCTGGCGGCG	0.716000										HNSCC(72;0.22)			9	42					0	0	0.004482	0	0
POTEF	728378	broad.mit.edu	37	2	130832240	130832240	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:130832240G>T	ENST00000357462.5	-	15	2898	c.2805C>A	c.(2803-2805)tcC>tcA	p.S935S	POTEF_ENST00000409914.2_Silent_p.S935S			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	935	Actin-like.					cell cortex	ATP binding	p.S935S(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TCTTCTCTAGGGAGGAGCTGG	0.622000													20	45					0.000229342	0.000278498	0.001882	1	0
ZNF385D	79750	broad.mit.edu	37	3	21606120	21606120	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:21606120G>A	ENST00000281523.2	-	3	740	c.222C>T	c.(220-222)caC>caT	p.H74H	ZNF385D-AS1_ENST00000412369.1_RNA|ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	74						nucleus	nucleic acid binding|zinc ion binding	p.H74H(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GCTTTCTTCGGTGGGGAAGAG	0.318000													22	69					0	0	0.002780	0	0
PKDREJ	10343	broad.mit.edu	37	22	46655703	46655703	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:46655703G>C	ENST00000253255.5	-	1	3516	c.3517C>G	c.(3517-3519)Cgg>Ggg	p.R1173G		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1173					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	p.R1173G(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATGTTTAACCGTAGATCCACA	0.493000													55	180					0	0	0.003610	0	0
LHFP	10186	broad.mit.edu	37	13	40174972	40174972	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:40174972C>A	ENST00000379589.3	-	2	844	c.382G>T	c.(382-384)Ggg>Tgg	p.G128W		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	128						integral to membrane	DNA binding	p.G128W(1)	HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		CACTTACCCCCAAGAAACTGA	0.473000			T	HMGA2	lipoma								24	87					2.44723e-14	4.15379e-14	0.004656	1	0
PDHA2	5161	broad.mit.edu	37	4	96762029	96762029	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:96762029G>T	ENST00000295266.4	+	1	791	c.728G>T	c.(727-729)aGg>aTg	p.R243M		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	243					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.R243M(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TACTACAAGAGGGGCAATTTT	0.438000													24	67					5.61819e-17	9.96388e-17	0.005443	1	0
TRPV6	55503	broad.mit.edu	37	7	142572888	142572888	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:142572888G>A	ENST00000359396.3	-	9	1397	c.1152C>T	c.(1150-1152)atC>atT	p.I384I		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	384					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	p.I384I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CGACCAGCCGGATATCGTCCT	0.567000													5	106					0	0	0.000602	0	0
ASB5	140458	broad.mit.edu	37	4	177142722	177142722	+	Silent	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:177142722A>T	ENST00000296525.3	-	4	527	c.414T>A	c.(412-414)acT>acA	p.T138T	ASB5_ENST00000511879.1_5'UTR|ASB5_ENST00000512254.1_Silent_p.T85T	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	138					intracellular signal transduction			p.T138T(1)		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)		TGAATAACGGAGTCACGCCAT	0.458000													14	35					0	0	0.002450	0	0
TCEANC2	127428	broad.mit.edu	37	1	54520164	54520164	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:54520164G>T	ENST00000234827.1	+	2	269	c.69G>T	c.(67-69)aaG>aaT	p.K23N	TCEANC2_ENST00000498272.1_3'UTR|TCEANC2_ENST00000371331.1_Missense_Mutation_p.K53N	NM_153035.1	NP_694580.1	Q96MN5	TEAN2_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing 2	23					transcription, DNA-dependent	nucleus	DNA binding	p.K23_V24>NF(1)		kidney(1)|lung(3)|pancreas(1)	5						CTGGAGGAAAGGTTTACAAGC	0.478000													8	43					3.09899e-07	4.25502e-07	0.004482	1	0
UBE2N	7334	broad.mit.edu	37	12	93804897	93804897	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:93804897C>A	ENST00000318066.2	-	2	586	c.209G>T	c.(208-210)cGt>cTt	p.R70L	UBE2N_ENST00000549833.1_Missense_Mutation_p.R7L|UBE2N_ENST00000550657.1_Missense_Mutation_p.R70L|UBE2N_ENST00000552442.1_Missense_Mutation_p.R70L	NM_003348.3	NP_003339.1	P61088	UBE2N_HUMAN	ubiquitin-conjugating enzyme E2N	70					DNA double-strand break processing|double-strand break repair via homologous recombination|histone ubiquitination|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of DNA repair|positive regulation of histone modification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity|postreplication repair|protein K63-linked ubiquitination|proteolysis|regulation of histone ubiquitination|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus|UBC13-MMS2 complex|UBC13-UEV1A complex|ubiquitin ligase complex	ATP binding|ubiquitin binding|ubiquitin-protein ligase activity	p.R70L(1)		endometrium(3)|liver(2)|lung(5)	10						GGTCATGAAACGTACTTTAGG	0.388000								Direct reversal of damage;Rad6 pathway					43	63					8.20599e-20	1.49527e-19	0.002852	1	0
DNTTIP2	30836	broad.mit.edu	37	1	94342676	94342676	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:94342676C>A	ENST00000436063.2	-	2	872	c.815G>T	c.(814-816)aGa>aTa	p.R272I	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.R272I(1)		NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TTCTGAACTTCTGTGGGAGAA	0.338000													14	81					1.49906e-05	1.90978e-05	0.002450	1	0
ADCY2	108	broad.mit.edu	37	5	7520898	7520898	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:7520898C>T	ENST00000338316.4	+	3	545	c.456C>T	c.(454-456)ccC>ccT	p.P152P		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	152					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.P152P(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CCATGCTGCCCTTCAACATGC	0.522000													6	124					0	0	0.001168	0	0
DZIP1	22873	broad.mit.edu	37	13	96264337	96264337	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:96264337T>A	ENST00000347108.3	-	9	1700	c.1268A>T	c.(1267-1269)cAg>cTg	p.Q423L	DZIP1_ENST00000376829.2_Missense_Mutation_p.Q423L|DZIP1_ENST00000361156.3_Missense_Mutation_p.Q423L|DZIP1_ENST00000361396.2_Missense_Mutation_p.Q423L			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	423					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	p.Q423L(2)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CTGGAGTCTCTGCCCTagctc	0.433000													26	132					0	0	0.003954	0	0
KCNK9	51305	broad.mit.edu	37	8	140631039	140631039	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:140631039G>T	ENST00000520439.1	-	2	650	c.587C>A	c.(586-588)aCg>aAg	p.T196K	KCNK9_ENST00000303015.1_Missense_Mutation_p.T196K			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	196						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	p.T196K(1)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GGTAGTCAACGTGATGAAGCA	0.577000													33	40					8.4185e-14	1.41159e-13	0.002445	1	0
ZEB1	6935	broad.mit.edu	37	10	31750000	31750000	+	Silent	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:31750000A>G	ENST00000446923.2	+	2	433	c.42A>G	c.(40-42)tcA>tcG	p.S14S	ZEB1_ENST00000542815.3_Intron|ZEB1_ENST00000560721.2_Silent_p.S31S|ZEB1_ENST00000361642.5_Silent_p.S31S|ZEB1_ENST00000320985.10_Silent_p.S31S|ZEB1_ENST00000559858.1_3'UTR	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	31					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.S31S(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAACAAATTCAGATTCAGATG	0.353000													12	23					0	0	0.001855	0	0
CDH8	1006	broad.mit.edu	37	16	61858985	61858985	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:61858985G>T	ENST00000577390.1	-	5	1720	c.766C>A	c.(766-768)Ctg>Atg	p.L256M	CDH8_ENST00000299345.6_Missense_Mutation_p.L256M|CDH8_ENST00000577730.1_Missense_Mutation_p.L256M|CDH8_ENST00000584337.1_Missense_Mutation_p.L256M	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	256	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L256M(1)		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)		GTCCCAGACAGGCCACCAGAG	0.448000													14	73					2.31682e-05	2.93135e-05	0.003163	1	0
ROBO3	64221	broad.mit.edu	37	11	124742353	124742353	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:124742353C>A	ENST00000397801.1	+	8	1427	c.1235C>A	c.(1234-1236)aCc>aAc	p.T412N	ROBO3_ENST00000538940.1_Missense_Mutation_p.T390N	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	412	Ig-like C2-type 4.				axon midline choice point recognition	integral to membrane	receptor activity	p.T412N(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CTTAACATCACCGCGGTGCAG	0.602000													9	50					1.12685e-05	1.45231e-05	0.004482	1	0
GCNT1	2650	broad.mit.edu	37	9	79117415	79117415	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:79117415T>A	ENST00000442371.1	+	3	1057	c.118T>A	c.(118-120)Ttt>Att	p.F40I	GCNT1_ENST00000536223.1_Missense_Mutation_p.F40I|GCNT1_ENST00000444201.2_Missense_Mutation_p.F40I|GCNT1_ENST00000376730.4_Missense_Mutation_p.F40I	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	40	Stem region (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	p.F40I(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						AAAGCCTGAATTTGTAAGTGT	0.378000													12	95					0	0	0.001368	0	0
VCAN	1462	broad.mit.edu	37	5	82815315	82815315	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:82815315C>G	ENST00000265077.3	+	7	1755	c.1190C>G	c.(1189-1191)cCc>cGc	p.P397R	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.P397R|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.P349R	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	397	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.P397R(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GAGTTCCCTCCCGTGGGAAAT	0.433000													30	96					0	0	0.001786	0	0
COPS5	10987	broad.mit.edu	37	8	67958151	67958151	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:67958151C>A	ENST00000357849.4	-	7	1136	c.816G>T	c.(814-816)aaG>aaT	p.K272N	PPP1R42_ENST00000517834.1_Intron|COPS5_ENST00000517736.1_3'UTR	NM_006837.2	NP_006828.2	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	272					cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity	p.K272N(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ACTGCTCTAACTTTTCAGACA	0.433000													25	71					1.64293e-13	2.73274e-13	0.003330	1	0
CTNNA2	1496	broad.mit.edu	37	2	80874769	80874769	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:80874769C>A	ENST00000466387.1	+	22	3214	c.2490C>A	c.(2488-2490)ctC>ctA	p.L830L	CTNNA2_ENST00000496558.1_Silent_p.L830L|CTNNA2_ENST00000343114.3_Silent_p.L509L|CTNNA2_ENST00000361291.4_Silent_p.L864L|CTNNA2_ENST00000402739.4_Silent_p.L878L|CTNNA2_ENST00000540488.1_Silent_p.L785L|CTNNA2_ENST00000541047.1_Silent_p.L830L			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	878					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.L830L(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTGTTGTCCTCACGGTGAAAG	0.478000													26	144					7.38237e-10	1.12947e-09	0.006320	1	0
NETO2	81831	broad.mit.edu	37	16	47117419	47117419	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:47117419C>T	ENST00000562435.1	-	9	1675	c.1291G>A	c.(1291-1293)Gcc>Acc	p.A431T	NETO2_ENST00000303155.5_Missense_Mutation_p.A424T	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	431						integral to membrane	receptor activity	p.A431S(1)|p.A431T(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				CAGCGGGAGGCGGTGGAGGAG	0.527000										HNSCC(25;0.065)			27	98					0	0	0.006320	0	0
RBM26	64062	broad.mit.edu	37	13	79929484	79929484	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:79929484G>A	ENST00000438737.2	-	12	2165	c.1725C>T	c.(1723-1725)atC>atT	p.I575I	RBM26_ENST00000267229.7_Silent_p.I575I|RBM26_ENST00000438724.1_Silent_p.I575I			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	575	RRM 1.				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	p.I575I(2)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TTGCAAATTGGATTAGGGCAC	0.343000													4	55					0	0	0.000248	0	0
OR13C8	138802	broad.mit.edu	37	9	107331853	107331853	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:107331853C>T	ENST00000335040.1	+	1	405	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I135I(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						ACCCTGTCATCATGAGCAAGG	0.537000													15	62					0	0	0.003163	0	0
CTNND2	1501	broad.mit.edu	37	5	11236895	11236895	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:11236895G>C	ENST00000304623.8	-	10	1858	c.1669C>G	c.(1669-1671)Cag>Gag	p.Q557E	CTNND2_ENST00000359640.2_Missense_Mutation_p.Q557E|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.Q124E|CTNND2_ENST00000503622.1_Missense_Mutation_p.Q220E|CTNND2_ENST00000511377.1_Missense_Mutation_p.Q466E	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	557					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.Q557K(1)|p.Q557E(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGCAACATCTGAATCACTTCC	0.483000													52	118					0	0	0.003610	0	0
TRIML1	339976	broad.mit.edu	37	4	189068295	189068295	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:189068295G>T	ENST00000332517.3	+	6	1316	c.1176G>T	c.(1174-1176)tcG>tcT	p.S392S	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	392	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.S392S(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TCTGGGTCTCGTCACCTTTGA	0.493000													34	109					1.26612e-14	2.16899e-14	0.003271	1	0
CTNNA2	1496	broad.mit.edu	37	2	80646707	80646707	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:80646707A>C	ENST00000466387.1	+	13	1995	c.1271A>C	c.(1270-1272)cAt>cCt	p.H424P	CTNNA2_ENST00000496558.1_Missense_Mutation_p.H424P|CTNNA2_ENST00000343114.3_Missense_Mutation_p.H103P|CTNNA2_ENST00000361291.4_Missense_Mutation_p.H458P|CTNNA2_ENST00000402739.4_Missense_Mutation_p.H424P|CTNNA2_ENST00000540488.1_Missense_Mutation_p.H424P|CTNNA2_ENST00000541047.1_Missense_Mutation_p.H424P			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	424					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.H424P(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TTCCGTGAGCATGCCAACAAA	0.443000													10	70					0	0	0.001368	0	0
PARK2	5071	broad.mit.edu	37	6	162394430	162394430	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:162394430C>A	ENST00000366898.1	-	6	740	c.638G>T	c.(637-639)gGa>gTa	p.G213V	PARK2_ENST00000366892.1_Missense_Mutation_p.G213V|PARK2_ENST00000366894.1_Missense_Mutation_p.G22V|PARK2_ENST00000366896.1_Missense_Mutation_p.G64V|PARK2_ENST00000366897.1_Missense_Mutation_p.G185V|PARK2_ENST00000338468.3_Missense_Mutation_p.G22V	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	213	SYT11 binding 1.				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.G213V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GGGGTGTGCTCCACATTTAAA	0.413000													11	39					3.03607e-14	5.12704e-14	0.001368	1	0
MAP4K4	9448	broad.mit.edu	37	2	102314937	102314937	+	Silent	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:102314937T>C	ENST00000413150.2	+	2	115	c.60T>C	c.(58-60)gaT>gaC	p.D20D	MAP4K4_ENST00000324219.4_Silent_p.D20D|MAP4K4_ENST00000302217.5_Silent_p.D20D|MAP4K4_ENST00000350198.4_Silent_p.D20D|MAP4K4_ENST00000456652.1_Silent_p.D20D|MAP4K4_ENST00000425019.1_Silent_p.D20D|MAP4K4_ENST00000347699.4_Silent_p.D20D	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	20					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTCTCCAGGATCCTGCTGGGA	0.473000													8	380					0	0	0.003080	0	0
RLIM	51132	broad.mit.edu	37	X	73812542	73812542	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:73812542G>A	ENST00000332687.6	-	4	826	c.608C>T	c.(607-609)cCa>cTa	p.P203L	RLIM_ENST00000349225.2_Missense_Mutation_p.P203L	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	203					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.P203L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCTGGTAGGTGGGACCTCTGT	0.498000													43	79					0	0	0.003610	0	0
LSP1	4046	broad.mit.edu	37	11	1904748	1904748	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:1904748G>C	ENST00000406638.2	+	4	1572	c.270G>C	c.(268-270)caG>caC	p.Q90H	LSP1_ENST00000405957.2_Missense_Mutation_p.Q90H|LSP1_ENST00000381775.1_Missense_Mutation_p.Q280H|LSP1_ENST00000311604.3_Missense_Mutation_p.Q152H|LSP1_ENST00000485341.1_3'UTR	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	152					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	p.Q152H(1)|p.Q90H(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		ACACTGTCCAGGACAACCTGG	0.637000													7	27					0	0	0.001984	0	0
LMNB1	4001	broad.mit.edu	37	5	126156789	126156789	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:126156789G>C	ENST00000261366.5	+	7	1709	c.1348G>C	c.(1348-1350)Gat>Cat	p.D450H	LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	450	Tail.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity	p.D450H(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		AATTGATGTTGATGGGAAATT	0.408000													15	63					0	0	0.004990	0	0
FSIP2	401024	broad.mit.edu	37	2	186670134	186670134	+	Silent	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:186670134T>C	ENST00000343098.5	+	17	16368	c.16368T>C	c.(16366-16368)gaT>gaC	p.D5456D	FSIP2_ENST00000424728.1_Silent_p.D5367D	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.D65D(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CATCTCATGATATTCAAAAAG	0.333000													5	61					0	0	0.001984	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216396	20216396	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:20216396G>A	ENST00000331723.1	+	1	810	c.810G>A	c.(808-810)aaG>aaA	p.K270K		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K270K(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGTGGATAAGATATTCTCCT	0.438000													10	290					0	0	0.000978	0	0
SLC8A1	6546	broad.mit.edu	37	2	40655707	40655707	+	Missense_Mutation	SNP	C	C	A	rs151189284		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:40655707C>A	ENST00000406785.1	-	2	1903	c.1714G>T	c.(1714-1716)Gtt>Ttt	p.V572F	SLC8A1_ENST00000405269.1_Missense_Mutation_p.V572F|SLC8A1_ENST00000542024.1_Missense_Mutation_p.V572F|SLC8A1_ENST00000403092.1_Missense_Mutation_p.V572F|SLC8A1_ENST00000405901.3_Missense_Mutation_p.V572F|SLC8A1_ENST00000402441.1_Missense_Mutation_p.V572F|SLC8A1_ENST00000408028.2_Missense_Mutation_p.V572F|SLC8A1_ENST00000332839.4_Missense_Mutation_p.V572F|SLC8A1_ENST00000542756.1_Missense_Mutation_p.V572F|SLC8A1_ENST00000406391.2_Missense_Mutation_p.V572F			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	572	Calx-beta 2.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.V572F(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TTATATGGAACGATAACATTT	0.438000													28	110					7.38237e-10	1.12947e-09	0.006320	1	0
PITX2	5308	broad.mit.edu	37	4	111554147	111554147	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:111554147G>T	ENST00000354925.2	-	4	1713	c.8C>A	c.(7-9)aCc>aAc	p.T3N	PITX2_ENST00000355080.5_Missense_Mutation_p.T3N|PITX2_ENST00000394598.2_Missense_Mutation_p.T3N|PITX2_ENST00000394595.3_Missense_Mutation_p.T3N	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	3					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.T3N(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GCGGCAGTTGGTCTCCATTCC	0.592000													14	169					4.7546e-09	7.08496e-09	0.004007	1	0
PCNXL2	80003	broad.mit.edu	37	1	233296137	233296137	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:233296137C>A	ENST00000258229.8	-	19	3643	c.3409G>T	c.(3409-3411)Ggg>Tgg	p.G1137W	PCNXL2_ENST00000488780.2_Missense_Mutation_p.G270W|PCNXL2_ENST00000520463.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1137						integral to membrane		p.G1137W(1)		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)				GTTACAAACCCCACGGCTCCA	0.498000													16	60					0.00498961	0.00574792	0.004990	1	0
UGT2B4	7363	broad.mit.edu	37	4	70346427	70346427	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:70346427C>A	ENST00000305107.6	-	6	1558	c.1512G>T	c.(1510-1512)gtG>gtT	p.V504V	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Silent_p.V368V|UGT2B4_ENST00000512583.1_3'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	504					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.V504V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TGATGAATATCACAGTTGCCA	0.488000													36	117					1.07637e-12	1.75863e-12	0.004878	1	0
P2RY1	5028	broad.mit.edu	37	3	152553901	152553901	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:152553901C>G	ENST00000305097.3	+	1	1166	c.330C>G	c.(328-330)taC>taG	p.Y110*		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	110					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.Y110*(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TGATCTTCTACTACTTCAATA	0.478000													20	82					0	0	0.001523	0	0
FAT4	79633	broad.mit.edu	37	4	126412741	126412741	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:126412741G>T	ENST00000394329.3	+	17	14777	c.14764G>T	c.(14764-14766)Ggg>Tgg	p.G4922W	FAT4_ENST00000335110.5_Missense_Mutation_p.G3163W	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4922					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G4865W(1)|p.G4922W(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CATGAAGCTAGGGCAGCAAGC	0.557000													11	59					5.16669e-11	8.14501e-11	0.000978	1	0
FSTL5	56884	broad.mit.edu	37	4	163032464	163032464	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:163032464C>A	ENST00000306100.5	-	2	521	c.85G>T	c.(85-87)Ggc>Tgc	p.G29C	FSTL5_ENST00000427802.2_Missense_Mutation_p.G29C|FSTL5_ENST00000379164.4_Missense_Mutation_p.G29C|FSTL5_ENST00000536695.1_Missense_Mutation_p.G29C	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	29						extracellular region	calcium ion binding	p.G29C(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GATTTAAGGCCATATCCTCCT	0.408000													15	85					4.7546e-09	7.08496e-09	0.004007	1	0
ADAM19	8728	broad.mit.edu	37	5	156964958	156964958	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:156964958G>A	ENST00000257527.4	-	4	371	c.293C>T	c.(292-294)tCa>tTa	p.S98L	ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000517905.1_Missense_Mutation_p.S98L|ADAM19_ENST00000394020.1_Missense_Mutation_p.S100L	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	98					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	p.S98L(1)|p.S99L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTACCACTTGAAGTATAATG	0.448000													8	134					0	0	0.006214	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55364081	55364081	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:55364081G>T	ENST00000398661.2	-	7	780	c.649C>A	c.(649-651)Ctg>Atg	p.L217M	HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.L187M|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.L155M|HMGCLL1_ENST00000370850.2_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	217							hydroxymethylglutaryl-CoA lyase activity|metal ion binding	p.L217M(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGACAGCCCAGAGCACAAGAC	0.303000													34	102					2.87052e-16	5.04239e-16	0.005524	1	0
COL11A1	1301	broad.mit.edu	37	1	103428282	103428282	+	Missense_Mutation	SNP	C	C	A	rs147271219		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:103428282C>A	ENST00000358392.2	-	39	3304	c.2987G>T	c.(2986-2988)cGt>cTt	p.R996L	COL11A1_ENST00000353414.4_Missense_Mutation_p.R945L|COL11A1_ENST00000370096.3_Missense_Mutation_p.R984L|COL11A1_ENST00000512756.1_Missense_Mutation_p.R868L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	984	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	p.R996L(1)|p.R984L(1)		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)		AGGATGCCCACGTTCCCCTAT	0.453000													11	83					1.58986e-06	2.1318e-06	0.008291	1	0
TUBA3D	113457	broad.mit.edu	37	2	132238109	132238109	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:132238109C>A	ENST00000321253.6	+	4	950	c.843C>A	c.(841-843)gcC>gcA	p.A281A		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	281					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.A281A(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CTGAGAAGGCCTACCACGAGC	0.577000													71	116					1.77791e-30	3.50099e-30	0.003610	1	0
SLC26A8	116369	broad.mit.edu	37	6	35960323	35960323	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:35960323C>T	ENST00000490799.1	-	6	1109	c.756G>A	c.(754-756)atG>atA	p.M252I	SLC26A8_ENST00000355574.2_Missense_Mutation_p.M252I|SLC26A8_ENST00000394602.2_Intron	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	252					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GGAAACTAATCATAATCCCAA	0.458000													4	96					0	0	0.000248	0	0
MUC16	94025	broad.mit.edu	37	19	9070836	9070836	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:9070836G>C	ENST00000397910.4	-	3	16813	c.16610C>G	c.(16609-16611)cCc>cGc	p.P5537R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5539	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P5537R(2)|p.P1170R(1)		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						TGCTATTGTGGGCCGATCAAG	0.483000													5	127					0	0	0.000602	0	0
OR2AK2	391191	broad.mit.edu	37	1	248128744	248128744	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:248128744G>C	ENST00000366480.3	+	1	210	c.111G>C	c.(109-111)tgG>tgC	p.W37C	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W37C(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AATATGGCTGGATAAACTCTC	0.413000													24	282					0	0	0.002299	0	0
SYT9	143425	broad.mit.edu	37	11	7441797	7441797	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:7441797C>A	ENST00000318881.6	+	6	1635	c.1398C>A	c.(1396-1398)ggC>ggA	p.G466G		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	466						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.G466G(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		AGAGGCTGGGCAGAGACCACT	0.483000													31	42					9.93527e-08	1.40721e-07	0.002836	1	0
LZTR1	8216	broad.mit.edu	37	22	21343120	21343120	+	Silent	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:21343120T>C	ENST00000215739.8	+	6	911	c.552T>C	c.(550-552)agT>agC	p.S184S	LZTR1_ENST00000389355.3_Silent_p.S165S|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	184					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	p.S184S(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CGGTGTACAGTGACAAGCTGT	0.652000													7	129					0	0	0.006214	0	0
COL9A1	1297	broad.mit.edu	37	6	70944628	70944628	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:70944628C>A	ENST00000357250.6	-	34	2286	c.2128G>T	c.(2128-2130)Gaa>Taa	p.E710*	COL9A1_ENST00000320755.7_Nonsense_Mutation_p.E467*|COL9A1_ENST00000370499.4_Nonsense_Mutation_p.E467*|COL9A1_ENST00000489611.1_5'UTR|RP1-149L1.1_ENST00000522264.1_RNA	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	710	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.E710*(1)|p.E467*(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AAGCCAGGTTCCCCAGGATTA	0.527000													17	26					0.00074312	0.000881128	0.006122	1	0
ZIC4	84107	broad.mit.edu	37	3	147114196	147114196	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:147114196G>A	ENST00000383075.3	-	3	643	c.131C>T	c.(130-132)cCg>cTg	p.P44L	ZIC4_ENST00000525172.2_Missense_Mutation_p.P94L|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000473123.1_Missense_Mutation_p.P44L|ZIC4_ENST00000425731.3_Missense_Mutation_p.P82L|ZIC4_ENST00000484399.1_Missense_Mutation_p.P44L	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	44						nucleus	DNA binding|zinc ion binding	p.P44L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GTGGAGGCCCGGGAACACCGA	0.677000													6	29					0	0	0.001168	0	0
SRCAP	10847	broad.mit.edu	37	16	30748501	30748501	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:30748501G>T	ENST00000262518.4	+	34	7525	c.7140G>T	c.(7138-7140)cgG>cgT	p.R2380R	SRCAP_ENST00000395059.2_Silent_p.R2318R|SRCAP_ENST00000344771.4_Silent_p.R2222R	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2380					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.R2380L(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)			GCACCCACCGGCGCAGTAAAA	0.647000													5	20					1.23904e-05	1.58704e-05	0.000602	1	0
FOCAD	54914	broad.mit.edu	37	9	20907241	20907241	+	Splice_Site	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:20907241G>T	ENST00000380249.1	+	24	3082	c.2718_splice	c.e24+1	p.Q906_splice	FOCAD_ENST00000338382.6_Splice_Site_p.Q906_splice|FOCAD_ENST00000605086.1_Splice_Site_p.Q342_splice	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	906						integral to membrane	binding	p.Q906H(1)									CCATTTTACAGGTAATGAAAC	0.403000													59	184					4.13886e-29	8.06398e-29	0.003610	1	0
ACSM2A	123876	broad.mit.edu	37	16	20491921	20491921	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:20491921C>A	ENST00000573854.1	+	11	1422	c.1308C>A	c.(1306-1308)aaC>aaA	p.N436K	ACSM2A_ENST00000417235.2_Missense_Mutation_p.N357K|ACSM2A_ENST00000396104.2_Missense_Mutation_p.N436K|ACSM2A_ENST00000575690.1_Missense_Mutation_p.N436K|ACSM2A_ENST00000536134.1_Missense_Mutation_p.N208K|ACSM2A_ENST00000219054.6_Missense_Mutation_p.N436K|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	436					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.N436K(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CAGCAGCCAACATTCGAGGAG	0.502000													6	168					0.000157383	0.000191818	0.003080	1	0
OR8J1	219477	broad.mit.edu	37	11	56127775	56127775	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:56127775C>T	ENST00000303039.3	+	1	85	c.53C>T	c.(52-54)tCt>tTt	p.S18F		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S18F(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					ACAGGTGTCTCTAGCTGTCCA	0.478000													33	142					0	0	0.005524	0	0
TYRP1	7306	broad.mit.edu	37	9	12704606	12704606	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:12704606G>T	ENST00000388918.5	+	6	1291	c.1162G>T	c.(1162-1164)Ggg>Tgg	p.G388W	TYRP1_ENST00000381136.2_Missense_Mutation_p.G98W|TYRP1_ENST00000381137.2_Missense_Mutation_p.G97W|RP11-3L8.3_ENST00000417638.1_RNA	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	388					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	p.G388W(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GAATGGAACAGGGGGACAAAC	0.468000									Oculocutaneous Albinism				38	93					6.19805e-25	1.1772e-24	0.005524	1	0
CRTC3	64784	broad.mit.edu	37	15	91172586	91172586	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:91172586C>T	ENST00000420329.2	+	11	1235	c.1088C>T	c.(1087-1089)tCg>tTg	p.S363L	RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000268184.6_Missense_Mutation_p.S363L	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	363					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.S363L(2)	CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CTTCACCCTTCGCTCCGTCTG	0.552000			T	MAML2	salivary gland mucoepidermoid								21	285					0	0	0.002299	0	0
TMEM132E	124842	broad.mit.edu	37	17	32956077	32956077	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:32956077G>A	ENST00000321639.5	+	5	1250	c.922G>A	c.(922-924)Gag>Aag	p.E308K		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	308						integral to membrane		p.E308K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CTTTGAAATGGAGAACTTCAC	0.622000													33	121					0	0	0.002096	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49284854	49284854	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:49284854C>T	ENST00000559471.1	-	18	3156	c.2893G>A	c.(2893-2895)Gat>Aat	p.D965N	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.D920N	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	965								p.D920N(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CAACTGCCATCCAAAGAGCCA	0.493000													42	51					0	0	0.006999	0	0
C7orf62	219557	broad.mit.edu	37	7	88423497	88423497	+	Nonstop_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:88423497A>T	ENST00000297203.2	-	2	945	c.760T>A	c.(760-762)Tag>Aag	p.*254K	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	0								p.*254K(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCTCAATCCTAGAAACGTGAA	0.378000													11	29					0	0	0.008291	0	0
PRDM15	63977	broad.mit.edu	37	21	43223078	43223078	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr21:43223078C>A	ENST00000422911.1	-	24	3009	c.2908G>T	c.(2908-2910)Gag>Tag	p.E970*	PRDM15_ENST00000269844.3_Nonsense_Mutation_p.E1279*|PRDM15_ENST00000447207.2_Nonsense_Mutation_p.E913*|PRDM15_ENST00000538201.1_Nonsense_Mutation_p.E933*|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000398548.1_Nonsense_Mutation_p.E950*			P57071	PRD15_HUMAN	PR domain containing 15	1279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E1279*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						AGAGTCAGCTCAGGCTGCAGA	0.592000													19	152					9.7654e-05	0.000120256	0.007413	1	0
ALK	238	broad.mit.edu	37	2	29446262	29446262	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:29446262G>A	ENST00000389048.3	-	20	4211	c.3305C>T	c.(3304-3306)aCc>aTc	p.T1102I	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1102					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.T1102I(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GATGGAGGAGGTCTTGCCAGC	0.587000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				9	48					0	0	0.006214	0	0
NLGN1	22871	broad.mit.edu	37	3	173322611	173322611	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:173322611G>T	ENST00000457714.1	+	3	652	c.223G>T	c.(223-225)Ggg>Tgg	p.G75W	NLGN1_ENST00000545397.1_Missense_Mutation_p.G75W|NLGN1_ENST00000401917.3_Missense_Mutation_p.G75W|NLGN1_ENST00000361589.4_Missense_Mutation_p.G75W	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	75					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.G75W(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TGAAATTTTGGGGCCTGTTAT	0.458000													36	136					1.06647e-15	1.85571e-15	0.003755	1	0
ZW10	9183	broad.mit.edu	37	11	113608401	113608401	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:113608401C>A	ENST00000200135.3	-	14	2053	c.1909G>T	c.(1909-1911)Gga>Tga	p.G637*		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	637					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	p.G637*(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		CACACAATTCCAAGTCTCTTT	0.383000													29	119					1.16021e-09	1.76046e-09	0.007291	1	0
PDE8B	8622	broad.mit.edu	37	5	76721722	76721722	+	Splice_Site	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:76721722G>T	ENST00000264917.5	+	21	2593		c.e21+1		PDE8B_ENST00000505283.1_Splice_Site|PDE8B_ENST00000333194.4_Splice_Site|PDE8B_ENST00000342343.4_Splice_Site|PDE8B_ENST00000340978.3_Splice_Site|PDE8B_ENST00000346042.3_Splice_Site	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B						cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	p.?(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GCTTGGGATGGTAAGACAGTT	0.378000													5	44					5.9392e-07	8.08784e-07	0.001168	1	0
PLOD2	5352	broad.mit.edu	37	3	145809634	145809634	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:145809634C>A	ENST00000282903.5	-	8	1009	c.832G>T	c.(832-834)Ggc>Tgc	p.G278C	PLOD2_ENST00000360060.3_Missense_Mutation_p.G278C|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000494950.1_Missense_Mutation_p.G223C	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	278					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	p.G278C(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	AGAGTGCAGCCATTATCCTGT	0.363000													9	40					0.000978159	0.00115569	0.000978	1	0
FSIP2	401024	broad.mit.edu	37	2	186670606	186670606	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:186670606G>T	ENST00000343098.5	+	17	16840	c.16840G>T	c.(16840-16842)Gtg>Ttg	p.V5614L	FSIP2_ENST00000424728.1_Missense_Mutation_p.V5525L	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.V223L(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGAAAATAAAGTGGGAATTTG	0.348000													28	84					3.65163e-15	6.32086e-15	0.006320	1	0
NMNAT1	64802	broad.mit.edu	37	1	10035810	10035810	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:10035810G>T	ENST00000377205.1	+	3	420	c.276G>T	c.(274-276)tgG>tgT	p.W92C	NMNAT1_ENST00000403197.1_Missense_Mutation_p.W92C	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	92					water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding	p.W92C(1)		large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		AGAAGGAGTGGAAAGAGACTC	0.413000													18	89					5.26018e-13	8.66259e-13	0.001882	1	0
NLRP3	114548	broad.mit.edu	37	1	247587489	247587489	+	Silent	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:247587489C>G	ENST00000366497.2	+	4	1524	c.744C>G	c.(742-744)ctC>ctG	p.L248L	NLRP3_ENST00000336119.3_Silent_p.L248L|NLRP3_ENST00000391828.3_Silent_p.L248L|NLRP3_ENST00000391827.2_Silent_p.L248L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Silent_p.L248L|NLRP3_ENST00000348069.2_Silent_p.L248L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	248	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CGGGGACACTCTACCAAGACA	0.567000													4	79					0	0	0.001168	0	0
NCALD	83988	broad.mit.edu	37	8	102705114	102705114	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:102705114T>C	ENST00000395923.1	-	5	848	c.389A>G	c.(388-390)aAg>aGg	p.K130R	NCALD_ENST00000521599.1_Missense_Mutation_p.K130R|NCALD_ENST00000220931.6_Missense_Mutation_p.K130R|NCALD_ENST00000311028.3_Missense_Mutation_p.K130R|NCALD_ENST00000522951.1_Missense_Mutation_p.K130R|NCALD_ENST00000519508.2_Missense_Mutation_p.K130R	NM_001040627.1|NM_001040628.1|NM_001040629.1|NM_001040630.1	NP_001035717.1|NP_001035718.1|NP_001035719.1|NP_001035720.1	P61601	NCALD_HUMAN	neurocalcin delta	130	EF-hand 3.				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding	p.K130R(1)		endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			GGAAACCATCTTATAGATTGC	0.453000													17	61					0	0	0.006122	0	0
RAB2A	5862	broad.mit.edu	37	8	61484660	61484660	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:61484660G>T	ENST00000262646.7	+	3	525	c.174G>T	c.(172-174)caG>caT	p.Q58H	RAB2A_ENST00000531289.1_Missense_Mutation_p.Q34H|RAB2A_ENST00000529579.1_Missense_Mutation_p.Q58H	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	58					ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome	GDP binding|GTP binding|GTPase activity	p.Q58H(2)		endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			TAAAACTTCAGATATGGGATA	0.318000													11	19					9.31168e-06	1.20667e-05	0.001855	1	0
SGPP1	81537	broad.mit.edu	37	14	64152941	64152941	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:64152941C>T	ENST00000247225.6	-	3	1302	c.1208G>A	c.(1207-1209)cGa>cAa	p.R403Q		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	403						endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	p.R403Q(2)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		TCTTGCTTTTCGAATATCATC	0.348000													6	103					0	0	0.001168	0	0
KIAA1407	57577	broad.mit.edu	37	3	113737532	113737532	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:113737532C>G	ENST00000295878.3	-	8	1302	c.1156G>C	c.(1156-1158)Gaa>Caa	p.E386Q	KIAA1407_ENST00000545063.1_Missense_Mutation_p.E217Q	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	386								p.E386Q(1)		endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TACCTGTTTTCTTCCCTAAGA	0.413000													18	241					0	0	0.008871	0	0
STOX2	56977	broad.mit.edu	37	4	184930348	184930348	+	Silent	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:184930348G>C	ENST00000308497.4	+	3	1792	c.357G>C	c.(355-357)acG>acC	p.T119T	STOX2_ENST00000438269.1_Silent_p.T119T	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	119					embryo development|maternal placenta development			p.T119T(1)|p.T143T(1)		breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		TGCGGCACACGCTGAACACGC	0.438000													4	19					0	0	0.000248	0	0
VEZT	55591	broad.mit.edu	37	12	95660204	95660204	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:95660204G>T	ENST00000436874.1	+	5	611	c.506G>T	c.(505-507)tGg>tTg	p.W169L	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.W121L	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	169				W -> R (in Ref. 2; AAG38485).		acrosomal vesicle|adherens junction|integral to membrane|nucleus		p.W169F(2)		endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GTGTCTTCCTGGCTGGTATGG	0.418000													172	233					5.2239e-99	1.05752e-98	0.003610	1	0
TPO	7173	broad.mit.edu	37	2	1459997	1459997	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:1459997G>T	ENST00000345913.4	+	7	853	c.762G>T	c.(760-762)ggG>ggT	p.G254G	TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Silent_p.G254G|TPO_ENST00000382198.1_Silent_p.G254G|TPO_ENST00000382201.3_Silent_p.G254G|TPO_ENST00000346956.3_Silent_p.G254G|TPO_ENST00000329066.4_Silent_p.G254G|TPO_ENST00000349624.3_Silent_p.G254G	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	254					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.G254G(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTGCCTTCGGGGGAGGGGCTG	0.473000													5	30					1.23904e-05	1.58704e-05	0.000602	1	0
CREB3L2	64764	broad.mit.edu	37	7	137590467	137590467	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:137590467C>A	ENST00000330387.6	-	6	1247	c.896G>T	c.(895-897)cGg>cTg	p.R299L	CREB3L2_ENST00000456390.1_Missense_Mutation_p.R299L	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	299					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R299L(1)	FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GATCTTCCTCCGAATTTTCTT	0.517000			T	FUS	fibromyxoid sarcoma								13	268					5.50884e-06	7.17792e-06	0.001368	1	0
TMEM169	92691	broad.mit.edu	37	2	216964784	216964784	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:216964784C>A	ENST00000454545.1	+	4	739	c.413C>A	c.(412-414)tCa>tAa	p.S138*	TMEM169_ENST00000406027.2_Nonsense_Mutation_p.S138*|TMEM169_ENST00000437356.2_Nonsense_Mutation_p.S138*|TMEM169_ENST00000295658.4_Nonsense_Mutation_p.S138*	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	138						integral to membrane				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTAAAGAGTCATCAAGGGAA	0.542000													5	87					1.23904e-05	1.58704e-05	0.000602	1	0
PES1	23481	broad.mit.edu	37	22	30974931	30974931	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:30974931G>A	ENST00000402281.1	-	16	2150	c.1159C>T	c.(1159-1161)Cag>Tag	p.Q387*	PES1_ENST00000335214.6_Nonsense_Mutation_p.Q521*|PES1_ENST00000354694.6_Nonsense_Mutation_p.Q526*|PES1_ENST00000402284.3_Nonsense_Mutation_p.Q509*|PES1_ENST00000405677.1_Nonsense_Mutation_p.Q387*			O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	526	BRCT.|Sufficient for interaction with MAP1B (By similarity).				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	p.Q526*(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						TCCTCCTCCTGGGCCAGCCGC	0.567000													5	50					0	0	0.001984	0	0
PTPRD	5789	broad.mit.edu	37	9	8518099	8518099	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:8518099G>T	ENST00000381196.4	-	18	1835	c.1292C>A	c.(1291-1293)tCg>tAg	p.S431*	PTPRD_ENST00000397617.3_Nonsense_Mutation_p.S421*|PTPRD_ENST00000360074.4_Nonsense_Mutation_p.S418*|PTPRD_ENST00000537002.1_Nonsense_Mutation_p.S428*|PTPRD_ENST00000486161.1_Nonsense_Mutation_p.S431*|PTPRD_ENST00000397606.3_Nonsense_Mutation_p.S421*|PTPRD_ENST00000540109.1_Nonsense_Mutation_p.S431*|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.S431*|PTPRD_ENST00000358503.5_Nonsense_Mutation_p.S418*|PTPRD_ENST00000397611.3_Nonsense_Mutation_p.S428*|PTPRD_ENST00000355233.5_Nonsense_Mutation_p.S431*	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	431	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.S431*(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AATGGTGGTCGAACTCAACAT	0.502000										TSP Lung(15;0.13)			8	203					0.000157383	0.000191818	0.003080	1	0
C1orf173	127254	broad.mit.edu	37	1	75038549	75038549	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:75038549C>A	ENST00000326665.5	-	14	3063	c.2845G>T	c.(2845-2847)Gca>Tca	p.A949S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	949	Glu-rich.							p.A949S(1)		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						TCTATGGATGCTTCCTCTTCA	0.552000													21	142					1.55795e-14	2.66069e-14	0.001882	1	0
WDR78	79819	broad.mit.edu	37	1	67292659	67292659	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:67292659C>A	ENST00000371026.3	-	15	2238	c.2183G>T	c.(2182-2184)gGt>gTt	p.G728V	RP11-342H21.2_ENST00000456389.1_RNA|WDR78_ENST00000431318.1_Missense_Mutation_p.G441V	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	728								p.G728V(1)		NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TATAATAACACCCCAATCTGC	0.358000													21	146					1.55469e-16	2.74261e-16	0.003330	1	0
EPHA3	2042	broad.mit.edu	37	3	89259220	89259220	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:89259220C>A	ENST00000336596.2	+	3	589	c.364C>A	c.(364-366)Ctg>Atg	p.L122M	EPHA3_ENST00000452448.2_Missense_Mutation_p.L122M|EPHA3_ENST00000494014.1_Missense_Mutation_p.L122M	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	122						extracellular region|integral to plasma membrane	ATP binding	p.L122M(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GACATTCAACCTGTACTACAT	0.413000										TSP Lung(6;0.00050)			13	127					4.36969e-10	6.72884e-10	0.001855	1	0
PAPOLG	64895	broad.mit.edu	37	2	61010339	61010339	+	Silent	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:61010339A>G	ENST00000238714.3	+	13	1410	c.1161A>G	c.(1159-1161)ctA>ctG	p.L387L		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	387					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	p.L387L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			AAAACCATCTAGAGTGGTAAG	0.333000													19	68					0	0	0.001882	0	0
CPA1	1357	broad.mit.edu	37	7	130025014	130025014	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:130025014C>T	ENST00000011292.3	+	8	965	c.815C>T	c.(814-816)tCg>tTg	p.S272L	CPA1_ENST00000484324.1_Missense_Mutation_p.S184L	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	272					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.S272L(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					AACCCCTGCTCGGAGACTTAC	0.547000													4	66					0	0	0.000602	0	0
IL12RB1	3594	broad.mit.edu	37	19	18170764	18170764	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:18170764G>A	ENST00000600835.1	-	17	2226	c.1923C>T	c.(1921-1923)gcC>gcT	p.A641A	IL12RB1_ENST00000430026.2_Silent_p.A641A|IL12RB1_ENST00000593993.1_Silent_p.A641A			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	641					cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	p.A641A(1)		endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCAGCTCAGGGGCACCCTCAG	0.622000													4	6					0	0	0.000248	0	0
ANLN	54443	broad.mit.edu	37	7	36446030	36446030	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:36446030G>C	ENST00000265748.2	+	4	949	c.728G>C	c.(727-729)gGa>gCa	p.G243A	ANLN_ENST00000396068.2_Missense_Mutation_p.G243A	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	243	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	p.G243A(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TCTGCAAGTGGAGCATCTGCT	0.438000													48	113					0	0	0.003214	0	0
MUC16	94025	broad.mit.edu	37	19	9075173	9075173	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:9075173C>G	ENST00000397910.4	-	3	12476	c.12273G>C	c.(12271-12273)atG>atC	p.M4091I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4093	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.M4091I(4)		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						TAGCAAGGATCATTCCTCCAG	0.527000													21	48					0	0	0.001882	0	0
ZNF648	127665	broad.mit.edu	37	1	182026091	182026091	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:182026091T>A	ENST00000339948.3	-	2	1262	c.1055A>T	c.(1054-1056)aAa>aTa	p.K352I		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K352I(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GCGCTGGTGTTTGCGCAGGTC	0.637000													6	27					0	0	0.001984	0	0
GALNT2	2590	broad.mit.edu	37	1	230415090	230415090	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:230415090G>T	ENST00000366672.4	+	16	1674	c.1602G>T	c.(1600-1602)gtG>gtT	p.V534V	GALNT2_ENST00000543760.1_Silent_p.V496V|GALNT2_ENST00000485438.1_3'UTR	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	534	Ricin B-type lectin.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.V534V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TGAGGCACGTGGGCAGCAACC	0.587000													24	58					0.000295444	0.000356163	0.002299	1	0
GPR65	8477	broad.mit.edu	37	14	88477441	88477441	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:88477441C>T	ENST00000267549.3	+	2	808	c.250C>T	c.(250-252)Cct>Tct	p.P84S	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	84					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	p.P84S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						GACTTTCTCTCCTGCCTTGTG	0.403000													61	119					0	0	0.003610	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65811101	65811101	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:65811101G>T	ENST00000312006.4	-	3	454	c.173C>A	c.(172-174)cCg>cAg	p.P58Q	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.P58Q	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	58					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	p.P58Q(1)		kidney(1)|lung(9)|ovary(2)|skin(2)	14						GGGGCGCGGCGGCGAGTTCCG	0.647000													10	24					5.50884e-06	7.17792e-06	0.001368	1	0
KLHL4	56062	broad.mit.edu	37	X	86773015	86773015	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:86773015G>T	ENST00000373119.4	+	1	264	c.119G>T	c.(118-120)gGa>gTa	p.G40V	KLHL4_ENST00000373114.4_Missense_Mutation_p.G40V	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	40						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.G40V(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CAGCAGGAAGGATATGAGCAT	0.488000													22	47					1.96292e-10	3.05098e-10	0.001523	1	0
MUC17	140453	broad.mit.edu	37	7	100683456	100683456	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:100683456T>A	ENST00000306151.4	+	3	8823	c.8759T>A	c.(8758-8760)aTc>aAc	p.I2920N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2920	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.I2920N(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCATGCCAATCTCAACTCCT	0.478000													29	524					0	0	0.006320	0	0
TMBIM6	7009	broad.mit.edu	37	12	50152023	50152023	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:50152023C>T	ENST00000423828.1	+	5	802	c.474C>T	c.(472-474)ggC>ggT	p.G158G	TMBIM6_ENST00000552699.1_Silent_p.G158G|TMBIM6_ENST00000547798.1_Silent_p.G63G|TMBIM6_ENST00000395006.4_Silent_p.G100G|TMBIM6_ENST00000267115.5_Silent_p.G100G|TMBIM6_ENST00000549385.1_Silent_p.G100G	NM_001098576.1	NP_001092046.1	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6	100					apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus		p.G100G(1)|p.G158G(1)		lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						TTGGCCTGGGCCCTGCCCTGG	0.413000													81	142					0	0	0.003610	0	0
ACTN4	81	broad.mit.edu	37	19	39214592	39214592	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:39214592C>T	ENST00000252699.2	+	14	1643	c.1567C>T	c.(1567-1569)Ctg>Ttg	p.L523L	ACTN4_ENST00000424234.2_Silent_p.L133L|ACTN4_ENST00000390009.3_Silent_p.L304L	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	523					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	p.L523L(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGAGAAGCAGCTGGAGGCCAT	0.617000													20	23					0	0	0.008871	0	0
NUCKS1	64710	broad.mit.edu	37	1	205688745	205688745	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:205688745T>G	ENST00000367142.4	-	6	744	c.442A>C	c.(442-444)Agt>Cgt	p.S148R	NUCKS1_ENST00000464938.1_5'UTR	NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent kinase substrate 1	148						nucleus		p.S148R(1)		endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TTTTTCGAACTGCCATAGTCA	0.363000													43	61					0	0	0.003214	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914523	94914523	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:94914523G>T	ENST00000334708.3	-	2	653	c.589C>A	c.(589-591)Ccg>Acg	p.P197T	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	197					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.P379T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		CTGAACTCCGGGAGGCAGTCC	0.458000													56	101					2.73381e-35	5.43488e-35	0.003610	1	0
BOD1L1	259282	broad.mit.edu	37	4	13610219	13610219	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:13610219G>A	ENST00000040738.5	-	8	1812	c.1677C>T	c.(1675-1677)gtC>gtT	p.V559V		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	559	Lys-rich.						DNA binding	p.V559V(1)									GTTCTTTAAGGACTTCTTTAA	0.338000													3	12					0	0	0.004672	0	0
XIRP1	165904	broad.mit.edu	37	3	39226647	39226647	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:39226647G>T	ENST00000340369.3	-	2	4518	c.4290C>A	c.(4288-4290)gcC>gcA	p.A1430A	XIRP1_ENST00000421646.1_Silent_p.A113A|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1430							actin binding	p.A1430E(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CATGGTTGAGGGCATTGAGCT	0.642000													7	100					1.06961e-07	1.50599e-07	0.003080	1	0
ERMN	57471	broad.mit.edu	37	2	158178131	158178131	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:158178131G>A	ENST00000410096.1	-	3	798	c.507C>T	c.(505-507)gaC>gaT	p.D169D	ERMN_ENST00000420719.2_Silent_p.D149D|ERMN_ENST00000535935.1_Silent_p.D63D|ERMN_ENST00000397283.2_Silent_p.D182D	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	169						cytoplasm|cytoskeleton		p.D182D(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						AATGTAACATGTCAGCTTGGC	0.413000													50	121					0	0	0.003610	0	0
GRIA1	2890	broad.mit.edu	37	5	153077700	153077700	+	Missense_Mutation	SNP	G	G	T	rs147418341		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:153077700G>T	ENST00000285900.5	+	9	1574	c.1231G>T	c.(1231-1233)Gtc>Ttc	p.V411F	GRIA1_ENST00000518142.1_Missense_Mutation_p.V331F|GRIA1_ENST00000521843.2_Missense_Mutation_p.V342F|GRIA1_ENST00000518783.1_Missense_Mutation_p.V421F|GRIA1_ENST00000448073.4_Missense_Mutation_p.V421F|GRIA1_ENST00000340592.5_Missense_Mutation_p.V411F	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	411					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|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|PDZ domain binding	p.V411F(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AACATACATCGTCACAACAAT	0.473000													11	21					3.07112e-06	4.04287e-06	0.000978	1	0
MACF1	23499	broad.mit.edu	37	1	39826501	39826501	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:39826501G>T	ENST00000564288.1	+	48	13058	c.12281G>T	c.(12280-12282)aGc>aTc	p.S4094I	MACF1_ENST00000372915.3_Missense_Mutation_p.S4099I|MACF1_ENST00000539005.1_Missense_Mutation_p.S2032I|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.S2032I|MACF1_ENST00000545844.1_Missense_Mutation_p.S2032I|MACF1_ENST00000317713.7_Missense_Mutation_p.S2032I|MACF1_ENST00000289893.4_Missense_Mutation_p.S2534I|MACF1_ENST00000567887.1_Missense_Mutation_p.S4131I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4099					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.S2534I(1)|p.S2032I(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTCTCCTATAGCCTGGCTGAG	0.443000													8	42					5.18039e-06	6.77656e-06	0.003080	1	0
LARP6	55323	broad.mit.edu	37	15	71124586	71124586	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:71124586G>T	ENST00000299213.8	-	3	1351	c.1281C>A	c.(1279-1281)ccC>ccA	p.P427P		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	427					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	p.P427P(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						GGCTGCCAGAGGGAGTGACGC	0.612000													20	66					3.51602e-12	5.68868e-12	0.008871	1	0
SPAG6	9576	broad.mit.edu	37	10	22680766	22680766	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:22680766C>A	ENST00000376603.2	+	8	1484	c.1342C>A	c.(1342-1344)Cgg>Agg	p.R448R	SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000313311.6_Silent_p.R372R|SPAG6_ENST00000376601.1_Silent_p.R133R|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Silent_p.R347R|SPAG6_ENST00000376624.3_Silent_p.R372R			O75602	SPAG6_HUMAN	sperm associated antigen 6	372					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	p.R372R(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						TGAACACGCACGGGCTGTTGC	0.453000													22	68					8.10497e-08	1.14895e-07	0.001523	1	0
NPSR1	387129	broad.mit.edu	37	7	34889208	34889208	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:34889208T>A	ENST00000360581.1	+	9	1185	c.1057T>A	c.(1057-1059)Ttc>Atc	p.F353I	NPSR1_ENST00000381539.3_Missense_Mutation_p.V386D|NPSR1_ENST00000359791.1_Intron|NPSR1_ENST00000381542.1_Missense_Mutation_p.F287I|NPSR1_ENST00000531252.1_Intron	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	353						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	p.F353I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CAGAATGACGTTCCGGGAGAG	0.468000													67	116					0	0	0.003610	0	0
LHCGR	3973	broad.mit.edu	37	2	48925784	48925784	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:48925784C>A	ENST00000294954.7	-	9	857	c.836G>T	c.(835-837)tGc>tTc	p.C279F	LHCGR_ENST00000405626.1_Missense_Mutation_p.C279F|LHCGR_ENST00000401907.1_Missense_Mutation_p.C279F|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_Missense_Mutation_p.C279F|LHCGR_ENST00000344775.3_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	279					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	p.C279F(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AAAAGCACAGCAGTGGCTGGG	0.413000													9	67					1.12685e-05	1.45231e-05	0.004482	1	0
COL7A1	1294	broad.mit.edu	37	3	48605544	48605544	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:48605544G>C	ENST00000328333.8	-	105	7961	c.7854C>G	c.(7852-7854)ttC>ttG	p.F2618L	COL7A1_ENST00000454817.1_Missense_Mutation_p.F2586L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2618	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.F2618L(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGGACCCATGAAGCCAACAT	0.532000													10	97					0	0	0.006214	0	0
CDH4	1002	broad.mit.edu	37	20	60348144	60348144	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:60348144C>G	ENST00000360469.5	+	4	570	c.482C>G	c.(481-483)gCc>gGc	p.A161G	CDH4_ENST00000543233.1_Missense_Mutation_p.A87G	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	161					adherens junction organization|cell junction assembly		calcium ion binding	p.A161G(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CACCAGAACGCCAACGGGCTG	0.652000													5	29					0	0	0.001168	0	0
ENHO	375704	broad.mit.edu	37	9	34521483	34521483	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:34521483T>C	ENST00000399775.2	-	2	636	c.211A>G	c.(211-213)Agc>Ggc	p.S71G		NM_198573.2	NP_940975.2	Q6UWT2	ENHO_HUMAN	energy homeostasis associated	71						extracellular region		p.S71G(1)		endometrium(1)|lung(1)	2						AGCAGGTAGCTGCCTTCATGG	0.617000													21	77					0	0	0.003954	0	0
ADH1C	126	broad.mit.edu	37	4	100264205	100264205	+	RNA	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:100264205G>A	ENST00000515683.1	-	0	926				ADH1C_ENST00000510055.1_RNA	NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GGTAGACCCTGGGGTGACCTA	0.428000													44	210					0	0	0.007835	0	0
SPTA1	6708	broad.mit.edu	37	1	158647625	158647625	+	Splice_Site	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:158647625C>A	ENST00000368148.3	-	7	993		c.e7-1		SPTA1_ENST00000368147.3_Splice_Site	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.?(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGTCACATCCCTGCAGTCATT	0.493000													37	81					9.14704e-12	1.46565e-11	0.008740	1	0
THBS2	7058	broad.mit.edu	37	6	169629714	169629714	+	Missense_Mutation	SNP	C	C	T	rs61736310		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:169629714C>T	ENST00000366787.3	-	15	2461	c.2212G>A	c.(2212-2214)Gat>Aat	p.D738N	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	738					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.D738N(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TCACAGGCATCGCCAATCCCG	0.527000													15	151					0	0	0.006122	0	0
CAP2	10486	broad.mit.edu	37	6	17421832	17421832	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:17421832A>G	ENST00000229922.2	+	2	578	c.46A>G	c.(46-48)Agc>Ggc	p.S16G	CAP2_ENST00000493172.1_Missense_Mutation_p.S16G|CAP2_ENST00000489374.1_Missense_Mutation_p.S16G|CAP2_ENST00000465994.1_Missense_Mutation_p.S16G|CAP2_ENST00000378990.2_Missense_Mutation_p.S16G	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	16					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	p.S16G(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			ACGAGCTGTCAGCCGCCTGGA	0.557000													14	123					0	0	0.001855	0	0
CER1	9350	broad.mit.edu	37	9	14720334	14720334	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:14720334G>T	ENST00000380911.3	-	2	602	c.558C>A	c.(556-558)tgC>tgA	p.C186*		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	186	CTCK.				BMP signaling pathway	extracellular space	cytokine activity	p.C186*(1)		endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		ATTTCCCAAAGCAAAGGTTGT	0.438000													11	58					1.08611e-07	1.52147e-07	0.000978	1	0
PRUNE2	158471	broad.mit.edu	37	9	79325636	79325636	+	Silent	SNP	T	T	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:79325636T>G	ENST00000428286.1	-	8	1677	c.477A>C	c.(475-477)gcA>gcC	p.A159A	PRUNE2_ENST00000376718.3_Silent_p.A518A			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	518					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.A518A(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGAAGTCATCTGCTGGGGAGT	0.522000													10	25					0	0	0.008291	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28337778	28337778	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr21:28337778G>C	ENST00000284987.5	-	1	1054	c.933C>G	c.(931-933)atC>atG	p.I311M		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	311	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.I311M(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CGGCCAGGCGGATGTGGTTCT	0.592000													18	75					0	0	0.007413	0	0
GATA3	2625	broad.mit.edu	37	10	8100776	8100776	+	Silent	SNP	G	G	A	rs28395792		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:8100776G>A	ENST00000379328.3	+	3	1318	c.750G>A	c.(748-750)aaG>aaA	p.K250K	GATA3_ENST00000346208.3_Silent_p.K250K|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	250					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	p.K250K(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCGGATGCAAGTCCAGGCCCA	0.667000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						15	38					0	0	0.007413	0	0
BTD	686	broad.mit.edu	37	3	15686657	15686657	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:15686657A>G	ENST00000383778.4	+	4	1592	c.1234A>G	c.(1234-1236)Acc>Gcc	p.T412A	BTD_ENST00000303498.5_Missense_Mutation_p.T432A|BTD_ENST00000437172.1_Missense_Mutation_p.T434A|BTD_ENST00000449107.1_Missense_Mutation_p.T434A			P43251	BTD_HUMAN	biotinidase	432					central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity	p.T432A(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						CGAGAGGCCCACCTTATCCAA	0.517000													13	118					0	0	0.002450	0	0
FRS2	10818	broad.mit.edu	37	12	69968531	69968531	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:69968531G>T	ENST00000299293.2	+	10	1833	c.1323G>T	c.(1321-1323)ttG>ttT	p.L441F	FRS2_ENST00000549921.1_Missense_Mutation_p.L441F|FRS2_ENST00000550389.1_Missense_Mutation_p.L441F|FRS2_ENST00000397997.2_Missense_Mutation_p.L441F	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	441					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity	p.L441F(2)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			AGGTTGACTTGGAAGGTGGCA	0.483000													21	41					3.08376e-08	4.44748e-08	0.003330	1	0
SLC12A3	6559	broad.mit.edu	37	16	56936384	56936384	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:56936384G>C	ENST00000438926.2	+	24	2876	c.2847G>C	c.(2845-2847)aaG>aaC	p.K949N	SLC12A3_ENST00000563236.1_Missense_Mutation_p.K940N|SLC12A3_ENST00000566786.1_Missense_Mutation_p.K948N|SLC12A3_ENST00000262502.5_Missense_Mutation_p.K939N	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	940					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	p.K949N(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCCCCTGGAAGATCTCAGATG	0.562000													15	44					0	0	0.003163	0	0
SMARCA2	6595	broad.mit.edu	37	9	2110342	2110342	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:2110342A>T	ENST00000382203.1	+	24	3590	c.3381A>T	c.(3379-3381)agA>agT	p.R1127S	SMARCA2_ENST00000357248.2_Missense_Mutation_p.R1127S|SMARCA2_ENST00000382194.1_Missense_Mutation_p.R1127S|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R1127S			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1127	Helicase C-terminal.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	p.R1127S(1)|p.R1123S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TGAGCACAAGAGCTGGTGGCC	0.502000													25	73					0	0	0.003330	0	0
SPATA31A3	727830	broad.mit.edu	37	9	40705718	40705718	+	Silent	SNP	T	T	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:40705718T>G	ENST00000356699.5	+	4	3404	c.3375T>G	c.(3373-3375)ctT>ctG	p.L1125L	RP11-395E19.5_ENST00000432614.1_lincRNA	NM_001083124.1	NP_001076593.1			SPATA31 subfamily A, member 3									p.L1125L(2)									AAGAAAGGCTTGAAGGATTGA	0.468000													49	376					0	0	0.003610	0	0
LRP2	4036	broad.mit.edu	37	2	170163811	170163811	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:170163811C>G	ENST00000263816.3	-	4	692	c.407G>C	c.(406-408)gGa>gCa	p.G136A	LRP2_ENST00000443831.1_Missense_Mutation_p.G136A	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	136	LDL-receptor class A 3.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.G136A(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTCATCAGCTCCATCGGGGCA	0.448000													7	108					0	0	0.001984	0	0
CXCL9	4283	broad.mit.edu	37	4	76927368	76927368	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:76927368G>T	ENST00000264888.5	-	2	162	c.124C>A	c.(124-126)Cac>Aac	p.H42N		NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	42					cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity	p.H42N(1)		large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GATTGTAGGTGGATAGTCCCT	0.453000													33	178					2.61193e-14	4.41528e-14	0.001786	1	0
CBX3	11335	broad.mit.edu	37	7	26251814	26251814	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:26251814G>T	ENST00000337620.4	+	6	966	c.538G>T	c.(538-540)Gat>Tat	p.D180Y	CBX3_ENST00000396386.2_Missense_Mutation_p.D180Y|CBX3_ENST00000409747.1_3'UTR	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN	chromobox homolog 3	180					chromatin remodeling|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome, centromeric region|nuclear centromeric heterochromatin|nuclear euchromatin|nuclear inner membrane|spindle	enzyme binding|protein domain specific binding	p.D180Y(1)		endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						TTGTCCAGAAGATGAAGCTCA	0.313000													6	37					0.00198382	0.00231911	0.001984	1	0
OR13C5	138799	broad.mit.edu	37	9	107361006	107361006	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:107361006G>T	ENST00000374779.2	-	1	782	c.689C>A	c.(688-690)tCt>tAt	p.S230Y		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S230F(1)|p.S230Y(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CCCCTCCGAAGAGCTAATTTT	0.423000													30	85					2.61193e-14	4.41528e-14	0.001786	1	0
LOC644669	644669	broad.mit.edu	37	18	15323297	15323297	+	RNA	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:15323297A>T	ENST00000455308.2	-	0	551					NR_027417.1																						ATTTTTTGTCAGTAAAAATTC	0.308000													4	14					0	0	0.000248	0	0
SSTR4	6754	broad.mit.edu	37	20	23017238	23017238	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:23017238C>A	ENST00000255008.3	+	1	1182	c.1118C>A	c.(1117-1119)cCa>cAa	p.P373Q	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	373					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	p.P373Q(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCCCTGCAACCAGAACCCGGC	0.667000													9	87					2.74318e-10	4.25976e-10	0.006214	1	0
BIN1	274	broad.mit.edu	37	2	127808384	127808384	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:127808384C>A	ENST00000316724.5	-	17	1977	c.1566G>T	c.(1564-1566)atG>atT	p.M522I	BIN1_ENST00000346226.3_Missense_Mutation_p.M447I|BIN1_ENST00000348750.4_Missense_Mutation_p.M338I|BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000351659.3_Missense_Mutation_p.M435I|BIN1_ENST00000409400.1_Missense_Mutation_p.M368I|BIN1_ENST00000352848.3_Missense_Mutation_p.M383I|BIN1_ENST00000393040.3_Missense_Mutation_p.M411I|BIN1_ENST00000259238.4_Missense_Mutation_p.M426I|BIN1_ENST00000393041.3_Missense_Mutation_p.M404I|BIN1_ENST00000357970.3_Missense_Mutation_p.M479I|BIN1_ENST00000376113.2_Missense_Mutation_p.M353I	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	522	SH3.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus		p.M426I(1)|p.M522I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TCACCTTGAACATGAAACCTG	0.627000											OREG0014962	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	50	78					9.52127e-25	1.80426e-24	0.003610	1	0
OR8H2	390151	broad.mit.edu	37	11	55873419	55873419	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:55873419G>T	ENST00000313503.1	+	1	901	c.901G>T	c.(901-903)Gtc>Ttc	p.V301F		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V301F(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GAAAAATGCTGTCATCAGAGT	0.373000										HNSCC(53;0.14)			10	157					6.40141e-05	7.95385e-05	0.000978	1	0
OR8J3	81168	broad.mit.edu	37	11	55904371	55904371	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:55904371G>T	ENST00000301529.1	-	1	823	c.824C>A	c.(823-825)tCt>tAt	p.S275Y		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S275Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GTAAAACACAGAAGCCATCTT	0.398000													23	123					5.35356e-11	8.42361e-11	0.002780	1	0
NAA11	84779	broad.mit.edu	37	4	80246593	80246593	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:80246593T>A	ENST00000286794.4	-	1	611	c.439A>T	c.(439-441)Atg>Ttg	p.M147L	NAA11_ENST00000513733.1_5'UTR	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	147	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	p.M147L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TCCCGCTTCATAGCATAAGCA	0.512000													13	74					0	0	0.001855	0	0
GPR101	83550	broad.mit.edu	37	X	136113092	136113092	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:136113092C>G	ENST00000298110.1	-	1	741	c.742G>C	c.(742-744)Gag>Cag	p.E248Q		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	248						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E248Q(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TCTGCTCCCTCTTCATCCTCA	0.547000													16	139					0	0	0.006122	0	0
HTR5A	3361	broad.mit.edu	37	7	154862942	154862942	+	Silent	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:154862942G>C	ENST00000287907.2	+	1	909	c.333G>C	c.(331-333)cgG>cgC	p.R111R	AC093726.4_ENST00000395731.2_Silent_p.L24L|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000543018.1_Silent_p.L24L	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	111						integral to plasma membrane	serotonin receptor activity	p.R111R(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		AGCTAGGTCGGAGGCTGTGCC	0.667000													8	30					0	0	0.004482	0	0
ADH6	130	broad.mit.edu	37	4	100134761	100134761	+	Splice_Site	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:100134761A>G	ENST00000394897.1	-	3	345		c.e3+1		ADH6_ENST00000407820.2_Intron|ADH6_ENST00000394899.2_Splice_Site|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000237653.7_Splice_Site|RP11-696N14.1_ENST00000500358.2_RNA			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)						ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	p.?(2)		breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	GCTAATTCCTACCTGGTTTCA	0.448000													16	90					0	0	0.004990	0	0
EED	8726	broad.mit.edu	37	11	85963272	85963272	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:85963272G>T	ENST00000263360.6	+	3	1036	c.350G>T	c.(349-351)gGa>gTa	p.G117V	EED_ENST00000351625.6_Missense_Mutation_p.G117V|EED_ENST00000327320.4_Missense_Mutation_p.G117V|EED_ENST00000528180.1_Missense_Mutation_p.G117V	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	117	Interaction with EZH2 (By similarity).				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	p.G117V(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GCAACTGTAGGAAGCAACAGA	0.338000													5	65					0.000602214	0.0007161	0.000602	1	0
AMER3	205147	broad.mit.edu	37	2	131521382	131521382	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:131521382C>A	ENST00000423981.1	+	2	1847	c.1737C>A	c.(1735-1737)gcC>gcA	p.A579A	AMER3_ENST00000321420.4_Silent_p.A579A	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3									p.A579A(1)									GCCTGCTCGCCGGAGAGAGCA	0.662000													24	34					2.21704e-12	3.60106e-12	0.002780	1	0
SLC12A2	6558	broad.mit.edu	37	5	127487036	127487036	+	Silent	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:127487036A>T	ENST00000262461.2	+	14	2400	c.2211A>T	c.(2209-2211)ctA>ctT	p.L737L	SLC12A2_ENST00000343225.4_Silent_p.L737L	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	737					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	p.L737L(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGCATTGCTAACATATGTGA	0.383000													20	67					0	0	0.007413	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37486372	37486372	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:37486372G>A	ENST00000374660.1	+	35	2968	c.2869G>A	c.(2869-2871)Gcc>Acc	p.A957T	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A838T|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A838T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1006						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A838T(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						TCCAAATAAAGCCTTGGAATT	0.313000													26	128					0	0	0.001786	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27535658	27535658	+	RNA	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:27535658C>T	ENST00000574842.1	+	0	255																											AGAAATGAGCCTTCTCACATT	0.488000													107	262					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179431857	179431857	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:179431857C>T	ENST00000589042.1	-	326	79226	c.79002G>A	c.(79000-79002)tgG>tgA	p.W26334*	TTN_ENST00000359218.5_Nonsense_Mutation_p.W17394*|TTN_ENST00000342175.6_Nonsense_Mutation_p.W17461*|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W24693*|TTN_ENST00000342992.6_Nonsense_Mutation_p.W23766*|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W17269*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24693	Ig-like 127.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.W23764*(1)|p.W23766*(1)|p.W17394*(1)|p.W17269*(1)|p.W17461*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAACAACAGTCCAGGCAAGTC	0.398000													75	103					0	0	0.003610	0	0
SPRY2	10253	broad.mit.edu	37	13	80911103	80911103	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:80911103C>A	ENST00000377102.1	-	2	1715	c.738G>T	c.(736-738)caG>caT	p.Q246H	SPRY2_ENST00000540649.1_Missense_Mutation_p.Q246H|SPRY2_ENST00000377104.3_Missense_Mutation_p.Q246H			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	246	Cys-rich.|SPR.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity	p.Q246H(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		AACAGTGAGACTGGCTGCAAG	0.463000													21	69					4.35082e-09	6.50663e-09	0.001523	1	0
TF	7018	broad.mit.edu	37	3	133478117	133478117	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:133478117G>C	ENST00000402696.3	+	9	1632	c.1147G>C	c.(1147-1149)Ggg>Cgg	p.G383R	TF_ENST00000264998.3_Missense_Mutation_p.G256R	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	383	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	p.G383R(1)|p.G383W(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TAACAGTGTAGGGAAAATAGA	0.532000													26	113					0	0	0.003954	0	0
USP46	64854	broad.mit.edu	37	4	53494232	53494232	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:53494232C>A	ENST00000441222.2	-	3	400	c.216G>T	c.(214-216)aaG>aaT	p.K72N	USP46_ENST00000508499.1_Missense_Mutation_p.K65N|USP46_ENST00000451218.2_Missense_Mutation_p.K45N	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	72					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.K72N(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			AGTTTTCCTTCTTCTTTTGCT	0.493000													16	51					6.31663e-08	8.98509e-08	0.003163	1	0
KIR2DL1	3802	broad.mit.edu	37	19	55282321	55282321	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:55282321G>T	ENST00000336077.6	+	2	95	c.55G>T	c.(55-57)Gcc>Tcc	p.A19S	KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.A19S|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	19					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	p.A19S(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		GCTGCAGGGGGCCTGGCCACA	0.562000													73	116					2.01602e-52	4.05648e-52	0.003610	1	0
CPXCR1	53336	broad.mit.edu	37	X	88008656	88008656	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:88008656C>T	ENST00000276127.4	+	3	500	c.241C>T	c.(241-243)Cga>Tga	p.R81*	CPXCR1_ENST00000373111.1_Nonsense_Mutation_p.R81*	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	81						intracellular	zinc ion binding	p.R81*(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						AAAAGATCAACGAGAAGAAGA	0.458000													4	11					0	0	0.000248	0	0
ZNF208	7757	broad.mit.edu	37	19	22155075	22155075	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:22155075C>G	ENST00000397126.4	-	4	2909	c.2761G>C	c.(2761-2763)Gaa>Caa	p.E921Q	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.E821Q(2)|p.E921Q(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGCCACATTCTTCACATTTG	0.388000													6	43					0	0	0.001168	0	0
GPR112	139378	broad.mit.edu	37	X	135487937	135487937	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:135487937G>T	ENST00000394143.1	+	23	9032	c.8741G>T	c.(8740-8742)tGc>tTc	p.C2914F	GPR112_ENST00000394141.1_Missense_Mutation_p.C2709F|GPR112_ENST00000287534.4_Missense_Mutation_p.C2667F|GPR112_ENST00000412101.1_Missense_Mutation_p.C2709F|GPR112_ENST00000370652.1_Missense_Mutation_p.C2914F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2914					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.C2914F(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCCATGTTCTGCACTGTTCTT	0.398000													37	39					9.8876e-21	1.81564e-20	0.004878	1	0
KCNJ16	3773	broad.mit.edu	37	17	68128375	68128375	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:68128375C>A	ENST00000585558.1	+	4	640	c.252C>A	c.(250-252)caC>caA	p.H84Q	KCNJ16_ENST00000283936.1_Missense_Mutation_p.H49Q|KCNJ16_ENST00000586462.1_Missense_Mutation_p.H88Q|KCNJ16_ENST00000392670.1_Missense_Mutation_p.H49Q|KCNJ16_ENST00000392671.1_Missense_Mutation_p.H49Q|KCNJ16_ENST00000589377.1_Missense_Mutation_p.H49Q			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	49					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.H49Q(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					ACTTCAAGCACATTTTTGGAG	0.423000													10	123					7.48243e-07	1.01312e-06	0.006214	1	0
YLPM1	56252	broad.mit.edu	37	14	75269332	75269332	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:75269332C>G	ENST00000325680.7	+	6	4598	c.4474C>G	c.(4474-4476)Cag>Gag	p.Q1492E	YLPM1_ENST00000238571.3_Missense_Mutation_p.Q1297E|YLPM1_ENST00000552421.1_Missense_Mutation_p.Q786E	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1297	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		p.Q1492E(1)|p.Q1297E(1)		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)		TCTACCACCTCAGGAATCAAG	0.403000													6	57					0	0	0.001168	0	0
TAOK3	51347	broad.mit.edu	37	12	118671561	118671561	+	Silent	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:118671561T>C	ENST00000392533.3	-	9	1051	c.561A>G	c.(559-561)ccA>ccG	p.P187P	TAOK3_ENST00000419821.2_Silent_p.P187P	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	187	Protein kinase.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.P187P(1)		central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGATCACCTCTGGAGCCATCC	0.368000													23	36					0	0	0.002780	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906357	164906357	+	Silent	SNP	G	G	T	rs146211129		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:164906357G>T	ENST00000475390.1	-	2	2705	c.2262C>A	c.(2260-2262)ccC>ccA	p.P754P	SLITRK3_ENST00000241274.3_Silent_p.P754P			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	754						integral to membrane		p.P754P(1)		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						GCTTGTAGATGGGGTTGTTGC	0.582000										HNSCC(40;0.11)			23	107					1.96895e-08	2.85454e-08	0.002780	1	0
KBTBD6	89890	broad.mit.edu	37	13	41705439	41705439	+	Silent	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:41705439T>C	ENST00000379485.1	-	1	1443	c.1209A>G	c.(1207-1209)acA>acG	p.T403T	KBTBD6_ENST00000499385.2_Silent_p.T337T	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	403							protein binding	p.T403T(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CCCAGAGGTCTGTCCTGGGCT	0.502000													6	121					0	0	0.001984	0	0
CPLX2	10814	broad.mit.edu	37	5	175306929	175306929	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:175306929C>G	ENST00000359546.4	+	5	929	c.286C>G	c.(286-288)Cgg>Ggg	p.R96G	CPLX2_ENST00000393745.3_Missense_Mutation_p.R96G|CPLX2_ENST00000515094.1_Missense_Mutation_p.R96G	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	complexin 2	96	Interaction with the SNARE complex (By similarity).				mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis	cytosol		p.R96G(2)		endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GAGCCTGACCCGGCCCAAGAA	0.652000													12	20					0	0	0.002450	0	0
FOCAD	54914	broad.mit.edu	37	9	20881987	20881987	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:20881987G>C	ENST00000380249.1	+	22	2799	c.2435G>C	c.(2434-2436)gGa>gCa	p.G812A	FOCAD_ENST00000338382.6_Missense_Mutation_p.G812A|FOCAD_ENST00000605086.1_Missense_Mutation_p.G248A	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	812						integral to membrane	binding	p.G812A(1)									ACTGTAGCAGGAATCCCCAAT	0.418000													8	139					0	0	0.004482	0	0
C5AR2	27202	broad.mit.edu	37	19	47844849	47844849	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:47844849C>A	ENST00000595464.1	+	2	1011	c.793C>A	c.(793-795)Ctc>Atc	p.L265I	C5AR2_ENST00000257267.2_Missense_Mutation_p.L265I|C5AR2_ENST00000600626.1_Missense_Mutation_p.L265I	NM_001271749.1	NP_001258678.1			complement component 5a receptor 2									p.L265I(1)									GAACTCCGCACTCCTGGCCAG	0.652000													20	50					4.35082e-09	6.50663e-09	0.001523	1	0
ELMO1	9844	broad.mit.edu	37	7	36895239	36895239	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:36895239G>T	ENST00000310758.4	-	22	2748	c.2101C>A	c.(2101-2103)Ctg>Atg	p.L701M	ELMO1_ENST00000396040.2_Missense_Mutation_p.L221M|ELMO1_ENST00000442504.1_Missense_Mutation_p.L701M|ELMO1_ENST00000448602.1_Missense_Mutation_p.L701M|ELMO1_ENST00000396045.3_Missense_Mutation_p.L221M|ELMO1_ENST00000341056.3_Missense_Mutation_p.L403M	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	701					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	p.L701M(1)		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						ATGTTTTCCAGGTCCAGGAGG	0.572000													39	131					8.69298e-16	1.5142e-15	0.006999	1	0
SPRY2	10253	broad.mit.edu	37	13	80911650	80911650	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:80911650C>A	ENST00000377102.1	-	2	1168	c.191G>T	c.(190-192)aGa>aTa	p.R64I	SPRY2_ENST00000540649.1_Missense_Mutation_p.R64I|SPRY2_ENST00000377104.3_Missense_Mutation_p.R64I			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	64					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity	p.R64I(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		GAGCCCAGGTCTTGGGACGAC	0.597000													14	79					4.36969e-10	6.72884e-10	0.001855	1	0
TAS2R39	259285	broad.mit.edu	37	7	142881157	142881157	+	Missense_Mutation	SNP	G	G	A	rs150355894		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:142881157G>A	ENST00000446620.1	+	1	646	c.646G>A	c.(646-648)Ggg>Agg	p.G216R		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	216					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.G216R(1)|p.G216W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					CTTTAACCTGGGGATTGTGAC	0.468000													37	97					0	0	0.006230	0	0
FKBP9	11328	broad.mit.edu	37	7	33014286	33014286	+	Silent	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:33014286G>C	ENST00000242209.4	+	2	448	c.279G>C	c.(277-279)ggG>ggC	p.G93G	FKBP9_ENST00000538443.1_Intron|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Silent_p.G146G	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	93	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.G93G(1)		central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			TGATCACAGGGATGGACCAGG	0.453000													86	219					0	0	0.003610	0	0
IFNA10	3446	broad.mit.edu	37	9	21206650	21206650	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:21206650T>A	ENST00000357374.2	-	1	492	c.447A>T	c.(445-447)agA>agT	p.R149S		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	149					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	p.R149S(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		AAAGAGTGATTCTTTGGAAGT	0.458000													37	496					0	0	0.007835	0	0
GRM8	2918	broad.mit.edu	37	7	126173818	126173818	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:126173818G>T	ENST00000339582.2	-	9	2426	c.1618C>A	c.(1618-1620)Cgc>Agc	p.R540S	GRM8_ENST00000444921.2_Missense_Mutation_p.R540S|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.R540S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	540					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.R540S(1)		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)	CCTTCACAGCGTTCACAGTGC	0.557000										HNSCC(24;0.065)			35	116					2.20474e-14	3.76142e-14	0.003755	1	0
RTCA	8634	broad.mit.edu	37	1	100752704	100752704	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:100752704G>T	ENST00000370128.4	+	10	1113	c.944G>T	c.(943-945)gGa>gTa	p.G315V	RTCA_ENST00000260563.4_Missense_Mutation_p.G328V	NM_003729.3	NP_003720.1	O00442	RTC1_HUMAN	RNA 3'-terminal phosphate cyclase	315					RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity	p.G315V(1)									ATAAAAACAGGACCAGTTACA	0.323000													15	67					2.39187e-15	4.14458e-15	0.008871	1	0
KRTAP21-2	337978	broad.mit.edu	37	21	32119316	32119316	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr21:32119316C>T	ENST00000333892.2	-	1	235	c.205G>A	c.(205-207)Ggc>Agc	p.G69S		NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	69						intermediate filament		p.C68_G69>WS(1)		lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						GGTCGGTAGCCACAGCAGCTA	0.498000													13	125					0	0	0.001855	0	0
ZNF260	339324	broad.mit.edu	37	19	37005747	37005747	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:37005747C>T	ENST00000523638.1	-	3	1515	c.394G>A	c.(394-396)Gga>Aga	p.G132R	ZNF260_ENST00000592282.1_Missense_Mutation_p.G132R|ZNF260_ENST00000588993.1_Missense_Mutation_p.G132R|ZNF260_ENST00000593142.1_Missense_Mutation_p.G132R	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	132					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G132R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					GGTTTGGTTCCTGTATGATTT	0.388000													106	129					0	0	0.003610	0	0
PCGF5	84333	broad.mit.edu	37	10	93011157	93011157	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:93011157G>A	ENST00000336126.5	+	6	666	c.434G>A	c.(433-435)tGt>tAt	p.C145Y	PCGF5_ENST00000543648.1_Missense_Mutation_p.C145Y	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding	p.C145Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						TGTCTAGATTGTTTACGAAAT	0.338000													8	46					0	0	0.006214	0	0
OBSCN	84033	broad.mit.edu	37	1	228481254	228481254	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:228481254G>T	ENST00000570156.2	+	46	12429	c.12355G>T	c.(12355-12357)Gac>Tac	p.D4119Y	OBSCN_ENST00000366709.4_Missense_Mutation_p.D809Y|OBSCN_ENST00000366707.4_Missense_Mutation_p.D809Y|OBSCN_ENST00000359599.6_Missense_Mutation_p.D2537Y|OBSCN_ENST00000284548.11_Missense_Mutation_p.D3690Y|OBSCN_ENST00000422127.1_Missense_Mutation_p.D3690Y	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3161	Ig-like 42.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.D3973Y(1)|p.D3874Y(1)|p.D3744Y(1)|p.D3690Y(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGTGGCAGAGGACGCTGGGGA	0.632000													37	64					2.19489e-29	4.28649e-29	0.006230	1	0
SLC12A6	9990	broad.mit.edu	37	15	34536239	34536239	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:34536239C>A	ENST00000354181.3	-	16	2470	c.1978G>T	c.(1978-1980)Gca>Tca	p.A660S	SLC12A6_ENST00000290209.5_Missense_Mutation_p.A609S|SLC12A6_ENST00000458406.2_Missense_Mutation_p.A601S|SLC12A6_ENST00000451844.2_Missense_Mutation_p.A472S|SLC12A6_ENST00000397702.2_Missense_Mutation_p.A601S|SLC12A6_ENST00000397707.2_Missense_Mutation_p.A645S|SLC12A6_ENST00000560164.1_Missense_Mutation_p.A472S|SLC12A6_ENST00000560611.1_Missense_Mutation_p.A660S|SLC12A6_ENST00000558667.1_Missense_Mutation_p.A660S|SLC12A6_ENST00000558589.1_Missense_Mutation_p.A651S			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	660					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	p.A609S(1)|p.A651S(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AAGGCACATGCCAAGTTTACA	0.378000													32	73					4.11147e-13	6.79786e-13	0.003755	1	0
ZNF804B	219578	broad.mit.edu	37	7	88966076	88966076	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:88966076C>T	ENST00000333190.4	+	4	4389	c.3780C>T	c.(3778-3780)ccC>ccT	p.P1260P		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1260						intracellular	zinc ion binding	p.P1260P(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTGCACACCCCACTTTCTTAG	0.483000										HNSCC(36;0.09)			13	193					0	0	0.001855	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454950	84454950	+	Silent	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:84454950G>C	ENST00000377084.2	-	1	1578	c.693C>G	c.(691-693)ccC>ccG	p.P231P		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	231	LRRCT 1.					integral to membrane		p.P231Q(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGGCATTCTTGGGAATGTTTT	0.522000													13	63					0	0	0.002450	0	0
RNF213	57674	broad.mit.edu	37	17	78319272	78319272	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:78319272G>T	ENST00000582970.1	+	29	7280	c.7137G>T	c.(7135-7137)ctG>ctT	p.L2379L	RNF213_ENST00000336301.6_Silent_p.L452L|RNF213_ENST00000508628.2_Silent_p.L2428L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0								p.L2428L(1)|p.L452L(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGCTCTGCCTGACCTTAGGGA	0.547000													13	78					9.05144e-12	1.45173e-11	0.001855	1	0
FRAS1	80144	broad.mit.edu	37	4	79204011	79204011	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:79204011G>T	ENST00000264895.6	+	12	1585	c.1145G>T	c.(1144-1146)tGt>tTt	p.C382F	FRAS1_ENST00000264899.6_Missense_Mutation_p.C382F|FRAS1_ENST00000325942.6_Missense_Mutation_p.C382F	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	382	VWFC 6.				cell communication	integral to membrane|plasma membrane	metal ion binding	p.C382F(3)		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						TGCAAGGTGTGTGAGTGCCGA	0.537000													13	95					4.93089e-13	8.14456e-13	0.002450	1	0
CPE	1363	broad.mit.edu	37	4	166385731	166385731	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:166385731C>A	ENST00000402744.4	+	2	777	c.497C>A	c.(496-498)gCg>gAg	p.A166E		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	166					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	p.A166E(1)		endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAGAAGGCAGCGTCTCAGGTG	0.463000											OREG0016390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	22					1.12685e-05	1.45231e-05	0.004482	1	0
DLG2	1740	broad.mit.edu	37	11	83641482	83641482	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:83641482T>A	ENST00000398309.2	-	10	1540	c.1070A>T	c.(1069-1071)aAg>aTg	p.K357M	DLG2_ENST00000531015.1_Missense_Mutation_p.K324M|DLG2_ENST00000280241.8_Missense_Mutation_p.K396M|DLG2_ENST00000376104.2_Missense_Mutation_p.K462M|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000543673.1_Missense_Mutation_p.K462M|DLG2_ENST00000398301.2_Missense_Mutation_p.K396M|DLG2_ENST00000537455.1_Missense_Mutation_p.K111M|DLG2_ENST00000330014.6_Missense_Mutation_p.K296M|DLG2_ENST00000532653.1_Missense_Mutation_p.K357M|DLG2_ENST00000524982.1_Missense_Mutation_p.K357M|DLG2_ENST00000376106.3_De_novo_Start_InFrame	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	357						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	p.K357M(1)|p.K462M(1)|p.K396M(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AGAAGCAGGCTTATCACATAG	0.488000													21	130					0	0	0.005443	0	0
BRINP3	339479	broad.mit.edu	37	1	190067407	190067407	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:190067407C>A	ENST00000367462.3	-	8	2273	c.2042G>T	c.(2041-2043)cGg>cTg	p.R681L	FAM5C_ENST00000534846.1_Missense_Mutation_p.R579L|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		681						extracellular region		p.R681L(1)		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)					AATCAGGTCCCGAATTGCTTC	0.458000													62	90					1.50372e-20	2.75212e-20	0.003610	1	0
SCN10A	6336	broad.mit.edu	37	3	38781150	38781150	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:38781150C>A	ENST00000449082.2	-	14	2135	c.2136G>T	c.(2134-2136)atG>atT	p.M712I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	712					sensory perception	voltage-gated sodium channel complex		p.M712I(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TTTTGAAGACCATTTCAGCAG	0.433000													9	31					1.76689e-08	2.56385e-08	0.006214	1	0
HIAT1	64645	broad.mit.edu	37	1	100515506	100515506	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:100515506C>A	ENST00000370152.3	+	2	262	c.126C>A	c.(124-126)atC>atA	p.I42I		NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	42					transmembrane transport	integral to membrane|plasma membrane	transporter activity	p.I42I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		ATGCAGTTATCGTCATCTTTT	0.318000													12	68					2.61681e-11	4.14495e-11	0.002450	1	0
GTPBP8	29083	broad.mit.edu	37	3	112710111	112710111	+	Missense_Mutation	SNP	G	G	A	rs146036883	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:112710111G>A	ENST00000383677.3	+	1	280	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	GTPBP8_ENST00000383678.2_Missense_Mutation_p.E89K	NM_138485.1	NP_612494.1	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	89					barrier septum formation		GTP binding	p.E89K(1)		kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						CACGGCCACTGAACGGAACCG	0.637000													4	56					0	0	0.000248	0	0
ANKRD17	26057	broad.mit.edu	37	4	73956695	73956695	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:73956695G>A	ENST00000358602.4	-	29	6766	c.6650C>T	c.(6649-6651)tCt>tTt	p.S2217F	ANKRD17_ENST00000330838.6_Missense_Mutation_p.S1966F|ANKRD17_ENST00000509867.2_Missense_Mutation_p.S2104F	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2217					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	p.S2217F(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TAGCTGGACAGAAGAGGGAAC	0.453000													22	251					0	0	0.003330	0	0
SVEP1	79987	broad.mit.edu	37	9	113169032	113169032	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:113169032C>A	ENST00000401783.2	-	38	9184	c.8848G>T	c.(8848-8850)Gga>Tga	p.G2950*	SVEP1_ENST00000374469.1_Nonsense_Mutation_p.G2927*|SVEP1_ENST00000297826.5_Nonsense_Mutation_p.G876*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2950	Sushi 26.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.G2953*(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCAGGAGGTCCACAGTTGACT	0.483000													36	209					2.19358e-23	4.12383e-23	0.005524	1	0
NUP214	8021	broad.mit.edu	37	9	134039265	134039265	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:134039265G>T	ENST00000359428.5	+	20	2876	c.2732G>T	c.(2731-2733)aGt>aTt	p.S911I	RP11-544A12.4_ENST00000589667.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.S912I|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000589128.1_RNA|RP11-544A12.4_ENST00000588325.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.S901I|RP11-544A12.4_ENST00000417798.2_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000586662.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	911	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	p.S911I(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AGTTTTGACAGTGACCTGGAA	0.438000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								45	182					1.81118e-26	3.4758e-26	0.003610	1	0
USP34	9736	broad.mit.edu	37	2	61605508	61605508	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:61605508C>G	ENST00000398571.2	-	8	1142	c.1066G>C	c.(1066-1068)Gac>Cac	p.D356H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	356					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.D356H(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTTTCTGTGTCCGATACTAAT	0.249000													7	62					0	0	0.001984	0	0
CDH10	1008	broad.mit.edu	37	5	24491822	24491822	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:24491822C>G	ENST00000264463.4	-	11	2246	c.1739G>C	c.(1738-1740)gGc>gCc	p.G580A	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	580	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G580A(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GGTCAGTGTGCCTGTGCTGCT	0.498000										HNSCC(23;0.051)			13	81					0	0	0.002450	0	0
ANK1	286	broad.mit.edu	37	8	41542077	41542077	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:41542077G>T	ENST00000396942.1	-	37	4605	c.4522C>A	c.(4522-4524)Ccc>Acc	p.P1508T	ANK1_ENST00000396945.1_Missense_Mutation_p.P1508T|ANK1_ENST00000347528.4_Missense_Mutation_p.P1508T|ANK1_ENST00000352337.4_Missense_Mutation_p.P1508T|ANK1_ENST00000379758.2_Missense_Mutation_p.P1508T|ANK1_ENST00000265709.8_Missense_Mutation_p.P1549T|ANK1_ENST00000289734.7_Missense_Mutation_p.P1508T			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1508	55 kDa regulatory domain.				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	p.P1549T(1)|p.P1508T(1)		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)			ATCTGGGAGGGTGACAGCGAG	0.607000													9	55					0.00448238	0.00518158	0.004482	1	0
CEP97	79598	broad.mit.edu	37	3	101447769	101447769	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:101447769G>T	ENST00000341893.3	+	4	1187	c.435G>T	c.(433-435)ttG>ttT	p.L145F	CEP97_ENST00000327230.4_Missense_Mutation_p.L145F|CEP97_ENST00000494050.1_Missense_Mutation_p.L145F			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	145						centrosome|nucleus	protein binding	p.L145F(2)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TATCTAAATTGGTATCCCTGA	0.353000													9	55					0.000442599	0.000529715	0.006214	1	0
ZNF814	730051	broad.mit.edu	37	19	58384403	58384403	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:58384403G>A	ENST00000435989.2	-	3	2589	c.2355C>T	c.(2353-2355)tcC>tcT	p.S785S	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	785					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S785S(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TTGTGAAACTGGAGCTTTCAG	0.408000													11	23					0	0	0.000978	0	0
RGS22	26166	broad.mit.edu	37	8	100994230	100994230	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:100994230C>G	ENST00000360863.6	-	22	3489	c.3295G>C	c.(3295-3297)Gag>Cag	p.E1099Q	RGS22_ENST00000523287.1_Missense_Mutation_p.E918Q|RGS22_ENST00000523437.1_Missense_Mutation_p.E1087Q	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1099	RGS 2.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.E1099Q(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TGGGCTTGCTCTACTGGAATG	0.388000													33	150					0	0	0.002836	0	0
MXRA5	25878	broad.mit.edu	37	X	3235987	3235987	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:3235987G>T	ENST00000217939.6	-	6	5889	c.5735C>A	c.(5734-5736)aCc>aAc	p.T1912N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1912	Ig-like C2-type 3.					extracellular region		p.T1912N(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TATCACTAAGGTACCGTTCTT	0.498000													13	16					1.5842e-08	2.33136e-08	0.001855	1	0
TRO	7216	broad.mit.edu	37	X	54956381	54956381	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:54956381C>A	ENST00000173898.7	+	12	3336	c.3224C>A	c.(3223-3225)aCc>aAc	p.T1075N	TRO_ENST00000319167.8_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.T606N|TRO_ENST00000375022.4_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.T678N	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1075	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane		p.T1075N(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GCCGTCAGCACCAGTGCCAGC	0.577000													8	13					0.000157383	0.000191818	0.003080	1	0
CCDC15	80071	broad.mit.edu	37	11	124857934	124857934	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:124857934G>T	ENST00000529051.1	+	8	2071	c.1812G>T	c.(1810-1812)caG>caT	p.Q604H	CCDC15_ENST00000344762.5_Missense_Mutation_p.Q604H			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	604						centrosome		p.Q604H(2)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CCATATGTCAGGACCGGGATT	0.413000													32	164					1.13719e-10	1.77753e-10	0.008361	1	0
TXLNB	167838	broad.mit.edu	37	6	139564124	139564124	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:139564124C>A	ENST00000358430.3	-	10	1826	c.1594G>T	c.(1594-1596)Gag>Tag	p.E532*	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	532						cytoplasm		p.E532*(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TCAGCACTCTCCTGAGAACTG	0.557000													14	143					0.000219431	0.000266659	0.002450	1	0
TSSC1	7260	broad.mit.edu	37	2	3341795	3341795	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:3341795G>A	ENST00000398659.4	-	3	392	c.252C>T	c.(250-252)taC>taT	p.Y84Y	TSSC1_ENST00000443925.2_Silent_p.Y84Y|TSSC1_ENST00000382125.4_Silent_p.Y84Y			Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	84							protein binding	p.Y84Y(1)		breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		TACTTCTGTTGTAGCAGGTCG	0.443000													10	108					0	0	0.008291	0	0
ZNF800	168850	broad.mit.edu	37	7	127013541	127013541	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:127013541G>C	ENST00000393313.1	-	5	2440	c.1849C>G	c.(1849-1851)Ctt>Gtt	p.L617V	ZNF800_ENST00000393312.1_Missense_Mutation_p.L617V|ZNF800_ENST00000485577.1_5'UTR|ZNF800_ENST00000265827.3_Missense_Mutation_p.L617V			Q2TB10	ZN800_HUMAN	zinc finger protein 800	617					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L617V(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						CATCTGTGAAGAGAAAAGTTT	0.358000													14	82					0	0	0.002450	0	0
DYSF	8291	broad.mit.edu	37	2	71744159	71744159	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:71744159G>T	ENST00000258104.3	+	9	1173	c.896G>T	c.(895-897)gGg>gTg	p.G299V	DYSF_ENST00000410041.1_Missense_Mutation_p.G331V|DYSF_ENST00000409366.1_Missense_Mutation_p.G300V|DYSF_ENST00000409651.1_Missense_Mutation_p.G331V|DYSF_ENST00000413539.2_Missense_Mutation_p.G330V|DYSF_ENST00000410020.3_Missense_Mutation_p.G331V|DYSF_ENST00000409762.1_Missense_Mutation_p.G330V|DYSF_ENST00000409744.1_Missense_Mutation_p.G300V|DYSF_ENST00000409582.3_Missense_Mutation_p.G330V|DYSF_ENST00000394120.2_Missense_Mutation_p.G300V|DYSF_ENST00000429174.2_Missense_Mutation_p.G299V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	299	C2 2.		G -> E (in MMD1).|G -> R (in LGMD2B and proximodistal myopathy).|G -> W (in MMD1).			cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.G299V(1)|p.G331V(1)		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						GCTCTCCTCGGGGAGTTCCGG	0.527000													10	73					3.86212e-05	4.81677e-05	0.008291	1	0
FAM118B	79607	broad.mit.edu	37	11	126081500	126081500	+	Translation_Start_Site	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:126081500A>T	ENST00000533050.1	+	0	192				RPUSD4_ENST00000298317.4_Missense_Mutation_p.W12R|RPUSD4_ENST00000533628.1_Missense_Mutation_p.W12R	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B									p.W12R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		CCCCGGATCCAGGGGCCCGAC	0.637000													52	115					0	0	0.003610	0	0
POTEA	340441	broad.mit.edu	37	8	43211972	43211972	+	RNA	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:43211972C>A	ENST00000522175.2	+	0	1295							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.S477R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCAAAAATAGCCACTATGAGC	0.363000													6	38					0.00198382	0.00231911	0.001984	1	0
GOLGB1	2804	broad.mit.edu	37	3	121417022	121417022	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:121417022C>G	ENST00000393667.3	-	13	2458	c.2348G>C	c.(2347-2349)aGg>aCg	p.R783T	GOLGB1_ENST00000340645.5_Missense_Mutation_p.R778T	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	778					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.R778T(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCTTCTTTGCCTTTCTGCTTC	0.433000													42	123					0	0	0.002852	0	0
NPFFR2	10886	broad.mit.edu	37	4	72994430	72994430	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:72994430A>T	ENST00000308744.6	+	2	526	c.428A>T	c.(427-429)cAg>cTg	p.Q143L	NPFFR2_ENST00000358749.3_Missense_Mutation_p.Q41L|NPFFR2_ENST00000344413.5_Intron|NPFFR2_ENST00000395999.1_Missense_Mutation_p.Q44L	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	143					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	p.Q143L(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TATCTTCACCAGCCTCAAGTG	0.368000													15	80					0	0	0.002450	0	0
SIDT2	51092	broad.mit.edu	37	11	117058097	117058097	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:117058097A>T	ENST00000324225.4	+	11	1550	c.1019A>T	c.(1018-1020)cAc>cTc	p.H340L	SIDT2_ENST00000431081.2_Missense_Mutation_p.H344L	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	340						integral to membrane|lysosomal membrane		p.H340L(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		ATTGCAGGTCACCCTCGAGTC	0.527000													7	142					0	0	0.006214	0	0
HAND2	9464	broad.mit.edu	37	4	174448523	174448523	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:174448523C>T	ENST00000359562.4	-	2	1498	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	HAND2-AS1_ENST00000512099.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	187					adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity	p.E187K(1)		endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TTCAAGATTTCGTTCTGGACA	0.572000													9	137					0	0	0.004482	0	0
CMYA5	202333	broad.mit.edu	37	5	79030273	79030273	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:79030273G>T	ENST00000446378.2	+	2	5716	c.5685G>T	c.(5683-5685)atG>atT	p.M1895I		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1895						perinuclear region of cytoplasm		p.M1895I(2)		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)		AAAACTGGATGTTGGGAAAGC	0.433000													25	34					1.88708e-17	3.3756e-17	0.008361	1	0
MYO7B	4648	broad.mit.edu	37	2	128351140	128351140	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:128351140A>T	ENST00000389524.4	+	18	2218	c.2165A>T	c.(2164-2166)cAg>cTg	p.Q722L	MYO7B_ENST00000409816.2_Missense_Mutation_p.Q722L|MYO7B_ENST00000428314.1_Missense_Mutation_p.Q722L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	722	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	p.Q722L(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AAGCTCCGCCAGATGACCCTG	0.617000													32	73					0	0	0.003271	0	0
SMYD1	150572	broad.mit.edu	37	2	88409967	88409967	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:88409967C>A	ENST00000419482.2	+	10	1494	c.1409C>A	c.(1408-1410)cCc>cAc	p.P470H	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Missense_Mutation_p.P457H	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.P470H(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AACAACCAGCCCATGCAGGTC	0.602000													5	11					5.9392e-07	8.08784e-07	0.001168	1	0
FITM1	161247	broad.mit.edu	37	14	24601569	24601569	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:24601569G>T	ENST00000267426.5	+	2	705	c.416G>T	c.(415-417)gGc>gTc	p.G139V	FITM1_ENST00000559294.1_5'UTR	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	139					lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane		p.G139V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						CGGGGAGCCGGCCGGGCCTTC	0.667000													21	32					2.89027e-11	4.56938e-11	0.002299	1	0
C10orf88	80007	broad.mit.edu	37	10	124697465	124697465	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:124697465T>A	ENST00000481909.1	-	5	1083	c.859A>T	c.(859-861)Aat>Tat	p.N287Y	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	287								p.N287Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		TTGGTAGAATTCTCTCCACCA	0.373000													18	42					0	0	0.007413	0	0
C10orf71	118461	broad.mit.edu	37	10	50531576	50531576	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:50531576C>A	ENST00000374144.3	+	3	1274	c.986C>A	c.(985-987)gCc>gAc	p.A329D	C10orf71_ENST00000323868.4_Missense_Mutation_p.A329D			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	329								p.A329D(2)		endometrium(1)	1						CAGGTCCAGGCCAGCTGCAGT	0.582000													14	44					1.49906e-05	1.90978e-05	0.002450	1	0
TTN	7273	broad.mit.edu	37	2	179516903	179516903	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:179516903G>T	ENST00000589042.1	-	204	39439	c.39215C>A	c.(39214-39216)cCa>cAa	p.P13072Q	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P11565Q|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10638Q|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11423							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P10638Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGCACCTCTGGGACTTTAAA	0.408000													68	120					2.02627e-32	4.01865e-32	0.003610	1	0
SEZ6L	23544	broad.mit.edu	37	22	26688935	26688935	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:26688935G>T	ENST00000529632.2	+	2	854	c.658G>T	c.(658-660)Gaa>Taa	p.E220*	SEZ6L_ENST00000248933.6_Nonsense_Mutation_p.E220*|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000343706.4_Nonsense_Mutation_p.E220*|SEZ6L_ENST00000360929.3_Nonsense_Mutation_p.E220*|SEZ6L_ENST00000404234.3_Nonsense_Mutation_p.E220*	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	220						endoplasmic reticulum membrane|integral to membrane		p.E220*(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCAGAGGCCAGAACCCGGGGA	0.647000													16	62					6.49762e-13	1.06476e-12	0.006122	1	0
BPTF	2186	broad.mit.edu	37	17	65962715	65962715	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:65962715G>C	ENST00000321892.4	+	28	8921	c.8860G>C	c.(8860-8862)Gaa>Caa	p.E2954Q	BPTF_ENST00000335221.5_Missense_Mutation_p.E2811Q|BPTF_ENST00000306378.6_Missense_Mutation_p.E2828Q|BPTF_ENST00000424123.3_Missense_Mutation_p.E2672Q			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2954	Bromo.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	p.E2811Q(1)|p.E2828Q(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCCTTTCCTTGAACCAGTAGA	0.373000													7	91					0	0	0.004482	0	0
DENND4C	55667	broad.mit.edu	37	9	19352178	19352178	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:19352178G>T	ENST00000307015.9	+	21	3919	c.2167G>T	c.(2167-2169)Gag>Tag	p.E723*	DENND4C_ENST00000434457.2_Nonsense_Mutation_p.E1535*|DENND4C_ENST00000602925.1_Nonsense_Mutation_p.E1486*|DENND4C_ENST00000380432.2_Nonsense_Mutation_p.E1250*|DENND4C_ENST00000540671.1_Nonsense_Mutation_p.E580*			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1250						integral to membrane		p.E1250*(1)		breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTGTGCAATGGAGGTAAAAGT	0.358000													18	44					1.67942e-08	2.45408e-08	0.006122	1	0
HDAC9	9734	broad.mit.edu	37	7	18832988	18832988	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:18832988G>A	ENST00000406451.3	+	17	2376	c.2226G>A	c.(2224-2226)tgG>tgA	p.W742*	HDAC9_ENST00000401921.1_Nonsense_Mutation_p.W701*|HDAC9_ENST00000441542.2_Nonsense_Mutation_p.W745*|HDAC9_ENST00000432645.2_Nonsense_Mutation_p.W742*	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	742	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.W745*(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ACACCATTTGGAATGAGCTAC	0.532000													3	9					0	0	0.004672	0	0
CHRD	8646	broad.mit.edu	37	3	184102866	184102866	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:184102866G>T	ENST00000204604.1	+	14	1904	c.1658G>T	c.(1657-1659)gGg>gTg	p.G553V	CHRD_ENST00000545352.1_Missense_Mutation_p.G183V|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.G553V|CHRD_ENST00000348986.3_Missense_Mutation_p.G513V	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	553	CHRD 4.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	p.G266V(1)|p.G553V(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAAGCAGCAGGGCACGCCTGG	0.617000													55	149					2.29192e-23	4.30382e-23	0.003610	1	0
SRCAP	10847	broad.mit.edu	37	16	30723384	30723384	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:30723384G>T	ENST00000262518.4	+	12	2106	c.1721G>T	c.(1720-1722)gGg>gTg	p.G574V	SRCAP_ENST00000395059.2_Missense_Mutation_p.G574V|SRCAP_ENST00000344771.4_Missense_Mutation_p.G574V	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	574					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.G574V(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)			CCTACTCCAGGGCCCACTACT	0.537000													19	59					1.01871e-10	1.59534e-10	0.008871	1	0
LRRC15	131578	broad.mit.edu	37	3	194081494	194081494	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:194081494C>A	ENST00000347624.3	-	2	364	c.279G>T	c.(277-279)acG>acT	p.T93T	LRRC15_ENST00000439944.2_Silent_p.T99T|LRRC15_ENST00000428839.1_Silent_p.T99T	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	93						integral to membrane		p.T93T(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		AGGCCCCAGGCGTGATGCGCG	0.587000													13	43					1.05317e-09	1.60097e-09	0.002450	1	0
F13B	2165	broad.mit.edu	37	1	197026157	197026157	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:197026157G>C	ENST00000367412.1	-	7	1200	c.1157C>G	c.(1156-1158)cCt>cGt	p.P386R		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	386	Sushi 6.				blood coagulation	extracellular region		p.P386R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ACACTCAGGAGGAAGTGTCCA	0.358000													7	71					0	0	0.001984	0	0
MYPN	84665	broad.mit.edu	37	10	69881444	69881444	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:69881444C>G	ENST00000358913.5	+	2	737	c.249C>G	c.(247-249)atC>atG	p.I83M	MYPN_ENST00000540630.1_Missense_Mutation_p.I83M|MYPN_ENST00000373675.3_Missense_Mutation_p.I83M|MYPN_ENST00000354393.2_Intron	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	83	Interaction with CARP.					nucleus|sarcomere	actin binding	p.I83M(1)		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						GACTGGCCATCAATTACGACC	0.448000													11	42					0	0	0.000978	0	0
PAPD7	11044	broad.mit.edu	37	5	6742603	6742603	+	Splice_Site	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:6742603G>T	ENST00000230859.6	+	5	388	c.258_splice	c.e5-1	p.V87_splice		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	87					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	p.V87L(1)|p.V87I(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATCTTTACAGGTACCAATAAT	0.428000													15	32					1.99824e-07	2.77347e-07	0.004990	1	0
HGS	9146	broad.mit.edu	37	17	79662893	79662893	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:79662893C>T	ENST00000329138.4	+	15	1392	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	419	Interaction with SNX1 (By similarity).				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	p.F419F(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TCACCACCTTCGTGAACCGCA	0.607000													5	46					0	0	0.001168	0	0
COL4A5	1287	broad.mit.edu	37	X	107814669	107814669	+	Silent	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:107814669C>G	ENST00000328300.6	+	7	655	c.411C>G	c.(409-411)ccC>ccG	p.P137P	COL4A5_ENST00000361603.2_Silent_p.P137P	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	137	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.P137P(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CAGGCAGTCCCGGTTTTCCTG	0.393000									Alport syndrome with Diffuse Leiomyomatosis				50	127					0	0	0.003610	0	0
HTR3B	9177	broad.mit.edu	37	11	113803681	113803681	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:113803681C>T	ENST00000260191.2	+	6	819	c.562C>T	c.(562-564)Ctg>Ttg	p.L188L	HTR3B_ENST00000537778.1_Silent_p.L177L	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	188					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	p.L188L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		CCTGGCCTTTCTGAGGAGCCC	0.468000													21	76					0	0	0.002780	0	0
CCKAR	886	broad.mit.edu	37	4	26483736	26483736	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:26483736G>T	ENST00000295589.3	-	5	1005	c.811C>A	c.(811-813)Ctg>Atg	p.L271M		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	271					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	p.L271M(2)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GTCTTTTGCAGGTAACACCCA	0.602000													41	62					3.09479e-21	5.70816e-21	0.006999	1	0
C11orf82	220042	broad.mit.edu	37	11	82643033	82643033	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:82643033A>G	ENST00000533655.1	+	6	865	c.653A>G	c.(652-654)tAt>tGt	p.Y218C	C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525388.1_3'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.Y218C|C11orf82_ENST00000329143.3_5'UTR	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	218					apoptosis|cell cycle arrest	cytoplasm|nucleus		p.Y218C(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						AGCAGCATATATACTTCTGAC	0.378000													27	108					0	0	0.004656	0	0
EYS	346007	broad.mit.edu	37	6	66115103	66115103	+	Silent	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:66115103T>A	ENST00000503581.1	-	6	1557	c.1020A>T	c.(1018-1020)ccA>ccT	p.P340P	EYS_ENST00000370621.3_Silent_p.P340P|EYS_ENST00000370616.2_Silent_p.P340P|EYS_ENST00000370618.3_Silent_p.P340P|EYS_ENST00000342421.5_Silent_p.P340P|EYS_ENST00000393380.2_Silent_p.P340P	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	340	EGF-like 4.				response to stimulus|visual perception	extracellular region	calcium ion binding	p.P340P(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CATTCTGACATGGTACTAATG	0.333000													35	93					0	0	0.002836	0	0
SLC9A9	285195	broad.mit.edu	37	3	143214218	143214218	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:143214218G>T	ENST00000316549.6	-	10	1370	c.1162C>A	c.(1162-1164)Cag>Aag	p.Q388K		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	388					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	p.Q388K(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						ATATGATTCTGGAACGTGAAC	0.353000													44	129					1.0096e-33	2.00471e-33	0.003610	1	0
TTN	7273	broad.mit.edu	37	2	179583950	179583950	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:179583950G>T	ENST00000589042.1	-	83	24391	c.24167C>A	c.(24166-24168)aCg>aAg	p.T8056K	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.T7739K|TTN_ENST00000342992.6_Missense_Mutation_p.T6812K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7739	Ig-like 63.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T6812K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCCACACACGTGTATATGCC	0.498000													49	55					2.13384e-23	4.01607e-23	0.003610	1	0
PROS1	5627	broad.mit.edu	37	3	93605239	93605239	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:93605239C>A	ENST00000394236.3	-	11	1580	c.1264G>T	c.(1264-1266)Gaa>Taa	p.E422*	PROS1_ENST00000407433.1_Nonsense_Mutation_p.E291*	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	422	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.E422*(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	ACTTTGGTTTCCAGCAATCCA	0.378000													38	199					6.45866e-13	1.06152e-12	0.008740	1	0
TTN	7273	broad.mit.edu	37	2	179398288	179398288	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:179398288G>T	ENST00000589042.1	-	358	103278	c.103054C>A	c.(103054-103056)Cta>Ata	p.L34352I	TTN_ENST00000359218.5_Missense_Mutation_p.L25412I|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L25479I|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L32711I|TTN_ENST00000342992.6_Missense_Mutation_p.L31784I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L25287I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588804.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32711							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L25479I(1)|p.L31782I(1)|p.L25412I(1)|p.L25287I(1)|p.L31784I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTGGGTGTAGGGTTACTGTC	0.433000													29	48					1.5548e-18	2.81151e-18	0.005443	1	0
AKAP6	9472	broad.mit.edu	37	14	33293232	33293232	+	Silent	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:33293232A>G	ENST00000280979.4	+	13	6383	c.6213A>G	c.(6211-6213)ctA>ctG	p.L2071L	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2071	PKA-RII subunit binding domain.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.L2071L(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CGACAGCCCTAAAAAGTAAAT	0.433000													5	59					0	0	0.001168	0	0
TEX37	200523	broad.mit.edu	37	2	88828655	88828655	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:88828655C>A	ENST00000303254.3	+	4	348	c.206C>A	c.(205-207)cCt>cAt	p.P69H		NM_152670.2	NP_689883.1			testis expressed 37									p.P69H(1)									GATGGGTACCCTGCTTTCAAA	0.547000													8	67					0.00448238	0.00518158	0.004482	1	0
USH2A	7399	broad.mit.edu	37	1	216040371	216040371	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:216040371G>A	ENST00000366943.2	-	44	9209	c.8823C>T	c.(8821-8823)atC>atT	p.I2941I	USH2A_ENST00000307340.3_Silent_p.I2941I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2941	Fibronectin type-III 16.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.I2941I(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCTCACGTCGATGGCTGTGT	0.453000										HNSCC(13;0.011)			9	102					0	0	0.001855	0	0
KDM4D	55693	broad.mit.edu	37	11	94731487	94731487	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:94731487G>T	ENST00000335080.5	+	3	1783	c.951G>T	c.(949-951)gtG>gtT	p.V317V	KDM4D_ENST00000536741.1_Silent_p.V317V	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	317					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	p.V317V(1)		endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AGGCAAGGGTGACCTTTTCCA	0.552000													17	79					3.45872e-05	4.36614e-05	0.004007	1	0
KANK4	163782	broad.mit.edu	37	1	62740301	62740301	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:62740301G>C	ENST00000371153.4	-	3	853	c.475C>G	c.(475-477)Ctc>Gtc	p.L159V	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	159								p.L159V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCTCTCAAGAGCTGGGGCCGT	0.652000													5	31					0	0	0.001168	0	0
ZC3H6	376940	broad.mit.edu	37	2	113069485	113069485	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:113069485G>A	ENST00000409871.1	+	5	1119	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	ZC3H6_ENST00000343936.4_Missense_Mutation_p.V240M	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	240							nucleic acid binding|zinc ion binding	p.V240M(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AGGGCCTAATGTGTTTTCAGT	0.383000													5	58					0	0	0.000602	0	0
CDK14	5218	broad.mit.edu	37	7	90377056	90377056	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:90377056G>T	ENST00000406263.1	+	3	734	c.292G>T	c.(292-294)Gga>Tga	p.G98*	CDK14_ENST00000436577.2_Intron|CDK14_ENST00000380050.3_Nonsense_Mutation_p.G144*|CDK14_ENST00000265741.3_Nonsense_Mutation_p.G126*			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	144					cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	p.G144*(1)|p.G126*(1)		breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						ACTAGGGGAAGGATCTTATGC	0.348000													15	232					4.96729e-08	7.08394e-08	0.008871	1	0
NXNL1	115861	broad.mit.edu	37	19	17571646	17571646	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:17571646G>T	ENST00000301944.2	-	1	117	c.33C>A	c.(31-33)atC>atA	p.I11I		NM_138454.1	NP_612463.1	Q96CM4	NXNL1_HUMAN	nucleoredoxin-like 1	11	Thioredoxin.				cell redox homeostasis	nuclear outer membrane		p.I11I(1)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						TATTGTTGCGGATCAGGATGC	0.637000													19	48					0.000132079	0.000162288	0.008871	1	0
SCN2A	6326	broad.mit.edu	37	2	166172034	166172034	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:166172034G>T	ENST00000357398.3	+	11	1727	c.1437G>T	c.(1435-1437)ggG>ggT	p.G479G	SCN2A_ENST00000283256.6_Silent_p.G479G|SCN2A_ENST00000375427.2_Silent_p.G479G|SCN2A_ENST00000375437.2_Silent_p.G479G			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	479					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G479G(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GTGCTGGTGGGATAGGAGTTT	0.418000													7	114					1.06961e-07	1.50599e-07	0.003080	1	0
MAGEA3	4102	broad.mit.edu	37	X	151935453	151935453	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:151935453G>T	ENST00000393902.3	-	3	1281	c.714C>A	c.(712-714)atC>atA	p.I238I	MAGEA3_ENST00000370278.3_Silent_p.I238I			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	238	MAGE.							p.I238I(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GATCCCCCAAGATACTGTCTT	0.542000													72	104					2.94884e-30	5.79985e-30	0.003610	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76569506	76569506	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:76569506G>T	ENST00000307431.8	+	19	3202	c.2817G>T	c.(2815-2817)atG>atT	p.M939I	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.M891I|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.M943I|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.M867I|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	940	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.M939I(1)|p.M867I(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGAATGGGATGACCCTGGATT	0.517000													12	74					9.31168e-06	1.20667e-05	0.001855	1	0
MIR1261	100302228	broad.mit.edu	37	11	90602343	90602343	+	RNA	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:90602343C>A	ENST00000408659.1	-	0	27					NR_031663.1																						ccacaatatccccataagcca	0.423000													6	28					3.59834e-05	4.50131e-05	0.001168	1	0
ABCC9	10060	broad.mit.edu	37	12	21971084	21971084	+	Splice_Site	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:21971084C>A	ENST00000261200.4	-	30	3770	c.3771_splice	c.e30+1	p.T1257_splice	ABCC9_ENST00000261201.4_Splice_Site_p.T1257_splice|ABCC9_ENST00000345162.2_Splice_Site_p.T1221_splice	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1257	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.T1257T(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCATACCTACCGTAAGTGCAT	0.418000													52	126					2.41709e-19	4.39471e-19	0.003610	1	0
SLC38A8	146167	broad.mit.edu	37	16	84070307	84070307	+	Splice_Site	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:84070307G>T	ENST00000299709.3	-	2	387	c.388_splice	c.e2+1	p.L130_splice		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	130					amino acid transport|sodium ion transport	integral to membrane		p.L130M(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGGTACTTACGCTTCTCCAGC	0.622000													5	30					1.23904e-05	1.58704e-05	0.000602	1	0
PIK3IP1	113791	broad.mit.edu	37	22	31688260	31688260	+	Splice_Site	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:31688260C>T	ENST00000215912.5	-	1	254		c.e1+1		PIK3IP1_ENST00000402249.3_Splice_Site|PIK3IP1_ENST00000441972.1_Splice_Site|PIK3IP1_ENST00000487265.2_Splice_Site	NM_052880.4	NP_443112.2	Q96FE7	P3IP1_HUMAN	phosphoinositide-3-kinase interacting protein 1							integral to membrane		p.?(1)		large_intestine(2)|lung(1)|ovary(1)	4						TGTAATCTCACCTCCAGATCC	0.502000											OREG0026478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	91					0	0	0.004482	0	0
ERC2	26059	broad.mit.edu	37	3	56468700	56468700	+	Silent	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:56468700T>A	ENST00000288221.6	-	2	591	c.336A>T	c.(334-336)acA>acT	p.T112T		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	112						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	p.T112T(2)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		AAAGGACATCTGTGTGGGAAA	0.522000													19	170					0	0	0.006122	0	0
HTR5A	3361	broad.mit.edu	37	7	154876005	154876005	+	Missense_Mutation	SNP	C	C	A	rs145653373		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:154876005C>A	ENST00000287907.2	+	2	1458	c.882C>A	c.(880-882)ttC>ttA	p.F294L	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	294						integral to plasma membrane	serotonin receptor activity	p.F294L(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TTGGCGTGTTCGTGCTCTGCT	0.622000													34	111					8.4185e-14	1.41159e-13	0.002445	1	0
DIP2A	23181	broad.mit.edu	37	21	47977571	47977571	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr21:47977571G>A	ENST00000318711.7	+	31	3889	c.3706G>A	c.(3706-3708)Gcc>Acc	p.A1236T	DIP2A_ENST00000400274.1_Missense_Mutation_p.A1231T|DIP2A_ENST00000417564.2_Missense_Mutation_p.A1235T	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1235					multicellular organismal development	nucleus	catalytic activity|transcription factor binding	p.A1235T(1)|p.A1236T(1)		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)		GTGGCTGTCGGCCGTCAGCCA	0.632000													9	26					0	0	0.004482	0	0
SEMA3D	223117	broad.mit.edu	37	7	84697561	84697561	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:84697561C>T	ENST00000284136.6	-	5	578	c.535G>A	c.(535-537)Ggc>Agc	p.G179S	SEMA3D_ENST00000444867.1_Missense_Mutation_p.G179S	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	179	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.G179S(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TTCAGTCTGCCAGACTCCAAA	0.333000													9	84					0	0	0.004482	0	0
TIMELESS	8914	broad.mit.edu	37	12	56823998	56823998	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:56823998C>T	ENST00000229201.4	-	10	1128	c.974G>A	c.(973-975)cGa>cAa	p.R325Q	TIMELESS_ENST00000554616.1_Missense_Mutation_p.R326Q|TIMELESS_ENST00000553532.1_Missense_Mutation_p.R326Q	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	326					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GGACAGCTCTCGGGCGGCCTG	0.537000													7	54					0	0	0.006214	0	0
MAP4K1	11184	broad.mit.edu	37	19	39103297	39103297	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:39103297C>A	ENST00000591517.1	-	9	647	c.619G>T	c.(619-621)Gaa>Taa	p.E207*	MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000396857.2_Nonsense_Mutation_p.E207*|MAP4K1_ENST00000586296.1_Nonsense_Mutation_p.E207*|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000589130.1_Nonsense_Mutation_p.E203*	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	207	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	p.E207K(2)|p.E207*(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCGGCCAGTTCGATGGCCGTG	0.627000													42	30					2.51966e-14	4.268e-14	0.003610	1	0
CDC14A	8556	broad.mit.edu	37	1	100889851	100889851	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:100889851C>T	ENST00000370125.2	+	5	871	c.383C>T	c.(382-384)cCa>cTa	p.P128L	CDC14A_ENST00000542213.1_Missense_Mutation_p.P70L|CDC14A_ENST00000370124.3_Missense_Mutation_p.P128L|CDC14A_ENST00000361544.6_Missense_Mutation_p.P128L|CDC14A_ENST00000544534.1_Missense_Mutation_p.P128L|CDC14A_ENST00000336454.3_Missense_Mutation_p.P128L|CDC14A_ENST00000469387.1_3'UTR			Q9UNH5	CC14A_HUMAN	cell division cycle 14A	128	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.P128L(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		CCCTATCTTCCATTCAGGTAT	0.388000													15	64					0	0	0.004007	0	0
BHLHE40	8553	broad.mit.edu	37	3	5025075	5025075	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:5025075G>T	ENST00000256495.3	+	5	1540	c.937G>T	c.(937-939)Ggc>Tgc	p.G313C		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	313						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.G313C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						CCCGTTCCTGGGCCCACACCC	0.572000													9	65					7.48243e-07	1.01312e-06	0.006214	1	0
PCDHGB7	56099	broad.mit.edu	37	5	140799740	140799740	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:140799740G>C	ENST00000398594.2	+	1	2314	c.2314G>C	c.(2314-2316)Gat>Cat	p.D772H	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018927.3	NP_061750.1												p.D772H(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACATCTGTTGATCATTGTCC	0.418000													9	55					0	0	0.006214	0	0
OTOGL	283310	broad.mit.edu	37	12	80722873	80722873	+	Missense_Mutation	SNP	C	C	A	rs143101932	by1000genomes	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:80722873C>A	ENST00000458043.2	+	36	4301	c.4295C>A	c.(4294-4296)gCt>gAt	p.A1432D	OTOGL_ENST00000547103.1_Missense_Mutation_p.A1432D	NM_173591.3	NP_775862.3			otogelin-like									p.A1432D(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATGCCACCAGCTAAGCCAACT	0.343000													7	7					0.00307968	0.00358504	0.003080	1	0
HSPG2	3339	broad.mit.edu	37	1	22222419	22222419	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:22222419C>T	ENST00000374695.3	-	3	319	c.240G>A	c.(238-240)caG>caA	p.Q80Q		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	80	SEA.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	p.Q80Q(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ACTTACCCATCTGGAAGTCCC	0.582000													6	39					0	0	0.003080	0	0
NFIC	4782	broad.mit.edu	37	19	3381733	3381733	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:3381733G>T	ENST00000589123.1	+	2	147	c.27G>T	c.(25-27)gaG>gaT	p.E9D	NFIC_ENST00000586919.1_Missense_Mutation_p.E9D|NFIC_ENST00000395111.3_Missense_Mutation_p.E9D|NFIC_ENST00000346156.5_Missense_Mutation_p.E9D|NFIC_ENST00000590282.1_Missense_Mutation_p.E18D|NFIC_ENST00000341919.3_Missense_Mutation_p.E18D|NFIC_ENST00000443272.2_Missense_Mutation_p.E18D	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	18					DNA replication|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|sequence-specific DNA binding transcription factor activity	p.E9D(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CGTTCATCGAGGCCCTGCTGC	0.657000													12	24					2.68362e-12	4.3504e-12	0.001368	1	0
LRP1B	53353	broad.mit.edu	37	2	141747099	141747099	+	Splice_Site	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:141747099A>T	ENST00000389484.3	-	17	3742		c.e17+1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.?(1)		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)		GCAAACCTTTACCTGTGCAAG	0.388000										TSP Lung(27;0.18)			44	92					0	0	0.003610	0	0
DISC1	27185	broad.mit.edu	37	1	231902942	231902942	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:231902942C>G	ENST00000439617.2	+	5	1378	c.1325C>G	c.(1324-1326)cCc>cGc	p.P442R	DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366636.4_Missense_Mutation_p.P442R|DISC1_ENST00000535983.1_Missense_Mutation_p.P442R|DISC1_ENST00000539444.1_Missense_Mutation_p.P442R|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000602873.1_Missense_Mutation_p.P92R|DISC1_ENST00000537876.1_Missense_Mutation_p.P442R|DISC1_ENST00000366633.3_Missense_Mutation_p.P442R|DISC1_ENST00000602281.1_Missense_Mutation_p.P442R	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	442	Interaction with TRAF3IP1.|Required for localization to punctate cytoplasmic foci.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				CTGTTGGAACCCACTGCTCAG	0.517000													5	92					0	0	0.000602	0	0
VAV3	10451	broad.mit.edu	37	1	108315437	108315437	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:108315437G>C	ENST00000370056.4	-	5	749	c.475C>G	c.(475-477)Ctc>Gtc	p.L159V	VAV3_ENST00000371846.4_Missense_Mutation_p.L94V|VAV3_ENST00000527011.1_Missense_Mutation_p.L159V|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	159					angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.L159V(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CAGTCATAGAGATCTTCTTCA	0.388000													17	74					0	0	0.004007	0	0
OR10G8	219869	broad.mit.edu	37	11	123901089	123901089	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:123901089G>C	ENST00000431524.1	+	1	793	c.760G>C	c.(760-762)Ggt>Cgt	p.G254R		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G254R(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTTTGGCCCTGGTCTTTTCAT	0.552000													34	117					0	0	0.003271	0	0
SEC31A	22872	broad.mit.edu	37	4	83748691	83748691	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:83748691G>A	ENST00000432794.1	-	25	3324	c.3161C>T	c.(3160-3162)tCa>tTa	p.S1054L	SEC31A_ENST00000508502.1_Missense_Mutation_p.S1026L|SEC31A_ENST00000355196.2_Missense_Mutation_p.S1041L|SEC31A_ENST00000264405.5_Missense_Mutation_p.S790L|SEC31A_ENST00000505984.1_Missense_Mutation_p.S987L|SEC31A_ENST00000513858.1_Missense_Mutation_p.S888L|SEC31A_ENST00000500777.2_Missense_Mutation_p.S888L|SEC31A_ENST00000326950.5_Missense_Mutation_p.S1002L|SEC31A_ENST00000505472.1_Missense_Mutation_p.S1072L|SEC31A_ENST00000348405.4_Missense_Mutation_p.S1002L|SEC31A_ENST00000448323.1_Missense_Mutation_p.S1041L|SEC31A_ENST00000311785.7_Missense_Mutation_p.S927L|SEC31A_ENST00000509142.1_Missense_Mutation_p.S927L|SEC31A_ENST00000395310.2_Missense_Mutation_p.S1041L|SEC31A_ENST00000443462.2_Missense_Mutation_p.S1021L			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1041	Interaction with PDCD6.|Pro-rich.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	p.S1041L(1)|p.S1054L(1)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TACTGGAGCTGAAGGCTGTTG	0.532000													13	166					0	0	0.001855	0	0
LIPN	643418	broad.mit.edu	37	10	90537778	90537778	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:90537778A>T	ENST00000404459.1	+	9	976	c.976A>T	c.(976-978)Ata>Tta	p.I326L		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	326					lipid catabolic process	extracellular region	hydrolase activity	p.I326L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		TCATCCCCCTATATATGACCT	0.488000													8	44					0	0	0.003080	0	0
OR4D2	124538	broad.mit.edu	37	17	56247902	56247902	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:56247902G>A	ENST00000545221.1	+	1	886	c.886G>A	c.(886-888)Gca>Aca	p.A296T		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A296T(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						GGACATGCAGGCAGCAGTGAG	0.512000													14	105					0	0	0.002450	0	0
CCDC149	91050	broad.mit.edu	37	4	24838915	24838915	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:24838915C>A	ENST00000504487.1	-	6	603	c.597G>T	c.(595-597)ctG>ctT	p.L199L	CCDC149_ENST00000502801.1_Intron|CCDC149_ENST00000389609.4_Silent_p.L199L|CCDC149_ENST00000428116.2_Intron	NM_001130726.2	NP_001124198.1	B4DZG3	B4DZG3_HUMAN	coiled-coil domain containing 149	199								p.L199L(1)|p.L144L(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				GGATATGGTTCAGCTCCTGGT	0.572000													10	32					7.48243e-07	1.01312e-06	0.006214	1	0
TRIML2	205860	broad.mit.edu	37	4	189012860	189012860	+	Silent	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:189012860C>G	ENST00000512729.1	-	7	1205	c.831G>C	c.(829-831)gcG>gcC	p.A277A	TRIML2_ENST00000326754.3_Silent_p.A302A	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	277	B30.2/SPRY.						ligase activity	p.A277A(1)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TGCTGCCCTTCGCGTCTGCAG	0.617000													19	175					0	0	0.008871	0	0
C16orf46	123775	broad.mit.edu	37	16	81097426	81097426	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:81097426G>A	ENST00000378611.4	-	2	250	c.135C>T	c.(133-135)ctC>ctT	p.L45L	C16orf46_ENST00000444657.3_Intron|C16orf46_ENST00000299578.5_Silent_p.L45L|RP11-303E16.8_ENST00000564536.1_RNA	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	45								p.L45L(2)		NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						CACTGACATCGAGAAGACAAT	0.358000													21	107					0	0	0.002299	0	0
RFC4	5984	broad.mit.edu	37	3	186515344	186515344	+	Silent	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:186515344T>A	ENST00000392481.2	-	4	551	c.270A>T	c.(268-270)gcA>gcT	p.A90A	RFC4_ENST00000433496.1_Silent_p.A90A|RFC4_ENST00000296273.2_Silent_p.A90A	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	90					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	p.A90A(1)		breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		CTCTAGCTGCTGCCAAAATAG	0.323000													18	105					0	0	0.001523	0	0
MAB21L1	4081	broad.mit.edu	37	13	36049377	36049377	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:36049377A>G	ENST00000379919.4	-	1	1455	c.899T>C	c.(898-900)cTg>cCg	p.L300P	NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	300					anatomical structure morphogenesis	nucleus		p.L300P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		AATCCCGTTCAGCCGATCACC	0.517000													13	75					0	0	0.002450	0	0
GALNT5	11227	broad.mit.edu	37	2	158115854	158115854	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:158115854G>T	ENST00000259056.4	+	1	1745	c.1260G>T	c.(1258-1260)acG>acT	p.T420T		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	420					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.T420T(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						ACAGTGGAACGCACCAGGTGT	0.493000													11	51					9.70103e-10	1.48148e-09	0.008291	1	0
SLC2A9	56606	broad.mit.edu	37	4	10027569	10027569	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:10027569G>T	ENST00000506583.1	-	3	239	c.22C>A	c.(22-24)Cga>Aga	p.R8R	SLC2A9_ENST00000309065.3_Silent_p.R8R			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	0					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	p.R8R(1)		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						TCTTCTCCTCGGTCCTTTTTA	0.393000													18	42					1.01871e-10	1.59534e-10	0.008871	1	0
STARD8	9754	broad.mit.edu	37	X	67937280	67937280	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:67937280C>A	ENST00000252336.6	+	5	656	c.284C>A	c.(283-285)cCa>cAa	p.P95Q	STARD8_ENST00000374599.3_Missense_Mutation_p.P175Q|STARD8_ENST00000374597.3_Missense_Mutation_p.P95Q	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	95					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	p.P95Q(2)|p.P175Q(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						TTGCCCTTGCCAGGCCGTGCC	0.657000													8	13					0.00307968	0.00358504	0.003080	1	0
SLC13A4	26266	broad.mit.edu	37	7	135392916	135392916	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:135392916A>T	ENST00000354042.4	-	3	1000	c.311T>A	c.(310-312)cTg>cAg	p.L104Q	AC091736.10_ENST00000378428.3_RNA	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	104						integral to plasma membrane	sodium:sulfate symporter activity	p.L104Q(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GCGCTTATGCAGGTTCCACTT	0.597000													11	155					0	0	0.000978	0	0
NDST4	64579	broad.mit.edu	37	4	115997603	115997603	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:115997603G>A	ENST00000264363.2	-	2	1268	c.590C>T	c.(589-591)cCt>cTt	p.P197L		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	197	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.P197L(1)		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)		AGGAGATTGAGGGTTAACAAA	0.393000													19	61					0	0	0.006122	0	0
MUSK	4593	broad.mit.edu	37	9	113562990	113562990	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:113562990C>A	ENST00000416899.2	+	13	2434	c.2308C>A	c.(2308-2310)Cgc>Agc	p.R770S	MUSK_ENST00000374448.4_Missense_Mutation_p.R778S|MUSK_ENST00000189978.5_Missense_Mutation_p.R778S			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	778	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R778C(1)|p.R778S(1)		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						TTTTTATAACCGCTACACTAC	0.512000													12	94					0.000151284	0.000185337	0.001855	1	0
TPTE	7179	broad.mit.edu	37	21	10941907	10941907	+	Splice_Site	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr21:10941907C>T	ENST00000298232.7	-	13	1109		c.e13+1		TPTE_ENST00000361285.4_Splice_Site|TPTE_ENST00000415664.2_Splice_Site|TPTE_ENST00000342420.5_Splice_Site	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.?(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAGACCCTTACCTTGATTGGA	0.313000													9	192					0	0	0.004482	0	0
CNDP1	84735	broad.mit.edu	37	18	72247446	72247446	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:72247446C>A	ENST00000582365.1	+	9	1185	c.1119C>A	c.(1117-1119)caC>caA	p.H373Q	CNDP1_ENST00000358821.3_Missense_Mutation_p.H416Q			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	416					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	p.H416Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TAGGACTACACCCGTGGATTG	0.433000													9	21					7.48243e-07	1.01312e-06	0.006214	1	0
OR8H3	390152	broad.mit.edu	37	11	55890240	55890240	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:55890240A>T	ENST00000313472.3	+	1	392	c.392A>T	c.(391-393)cAc>cTc	p.H131L		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H131L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					AGTCCTCTACACTACACAGTT	0.463000													64	190					0	0	0.003610	0	0
MAP2	4133	broad.mit.edu	37	2	210558918	210558918	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:210558918G>T	ENST00000360351.4	+	7	2530	c.2024G>T	c.(2023-2025)aGt>aTt	p.S675I	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.S671I|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	675					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.S675I(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GACCTCCACAGTAAGAATAAG	0.413000													40	70					4.92203e-23	9.22185e-23	0.006230	1	0
ALPK3	57538	broad.mit.edu	37	15	85360091	85360091	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:85360091G>T	ENST00000258888.5	+	1	181	c.14G>T	c.(13-15)tGg>tTg	p.W5L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	5					heart development	nucleus	ATP binding|protein serine/threonine kinase activity	p.W5L(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			gaggTGGCTTGGCTTGTCTAT	0.607000													7	15					2.0095e-06	2.67503e-06	0.001984	1	0
SUMF2	25870	broad.mit.edu	37	7	56146138	56146138	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:56146138G>T	ENST00000434526.2	+	8	846	c.815G>T	c.(814-816)cGg>cTg	p.R272L	SUMF2_ENST00000437307.2_Missense_Mutation_p.R184L|SUMF2_ENST00000342190.6_Intron|SUMF2_ENST00000395436.2_Missense_Mutation_p.R257L|SUMF2_ENST00000395435.2_Missense_Mutation_p.R188L|SUMF2_ENST00000413756.1_Missense_Mutation_p.R253L|SUMF2_ENST00000275607.9_Missense_Mutation_p.R165L	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	253						endoplasmic reticulum lumen	metal ion binding	p.R253L(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CGCGTCCTCCGGGGGGCATCC	0.662000													14	43					4.36969e-10	6.72884e-10	0.001855	1	0
ITGAL	3683	broad.mit.edu	37	16	30495236	30495236	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:30495236G>A	ENST00000356798.6	+	8	991	c.811G>A	c.(811-813)Ggc>Agc	p.G271S	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.G188S|ITGAL_ENST00000454514.2_3'UTR|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	271	VWFA.				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	p.G271S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CACTGACAGTGGCAACATCGA	0.582000													29	161					0	0	0.002096	0	0
UGT2B4	7363	broad.mit.edu	37	4	70346556	70346556	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:70346556G>T	ENST00000305107.6	-	6	1429	c.1383C>A	c.(1381-1383)gtC>gtA	p.V461V	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Silent_p.V325V|UGT2B4_ENST00000512583.1_3'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	461					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.V461V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CAATCCAGAAGACTGCTCGAT	0.438000													34	137					3.03874e-20	5.5554e-20	0.003271	1	0
CLK2	1196	broad.mit.edu	37	1	155233067	155233067	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:155233067C>A	ENST00000368361.4	-	13	1757	c.1442G>T	c.(1441-1443)cGc>cTc	p.R481L	CLK2_ENST00000361168.5_Missense_Mutation_p.R480L|CLK2_ENST00000355560.4_Missense_Mutation_p.R479L|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Missense_Mutation_p.R481L			P49760	CLK2_HUMAN	CDC-like kinase 2	481						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R481L(1)		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)			AGCCCGAAGGCGGGCGAAGAA	0.567000								Other conserved DNA damage response genes					23	20					6.44725e-10	9.9005e-10	0.002299	1	0
CORIN	10699	broad.mit.edu	37	4	47663854	47663854	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:47663854T>C	ENST00000273857.4	-	12	1608	c.1609A>G	c.(1609-1611)Aaa>Gaa	p.K537E	CORIN_ENST00000505909.1_Missense_Mutation_p.K500E|CORIN_ENST00000502252.1_Missense_Mutation_p.K470E|CORIN_ENST00000508498.1_Missense_Mutation_p.K398E|CORIN_ENST00000504584.1_Missense_Mutation_p.K500E	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	537	FZ 2.				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	p.K537E(1)		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						CAGCGTTCTTTAGAGTGTTCA	0.403000													5	36					0	0	0.001168	0	0
HOXD13	3239	broad.mit.edu	37	2	176958400	176958400	+	Splice_Site	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:176958400G>T	ENST00000392539.3	+	1	781		c.e1+1			NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13						skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding	p.?(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		TCCTTTCCAGGTAGGGGCGAT	0.567000			T	NUP98	AML*								10	39					1.76689e-08	2.56385e-08	0.006214	1	0
COQ9	57017	broad.mit.edu	37	16	57486813	57486813	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:57486813G>T	ENST00000262507.6	+	3	412	c.343G>T	c.(343-345)Ggg>Tgg	p.G115W	COQ9_ENST00000567072.1_Missense_Mutation_p.G115W|COQ9_ENST00000567933.1_Missense_Mutation_p.G115W	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	115					ubiquinone biosynthetic process	mitochondrion		p.G115W(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						GCCCGCCCACGGGTGGACAGC	0.602000													19	69					1.01871e-10	1.59534e-10	0.008871	1	0
PTPRC	5788	broad.mit.edu	37	1	198668730	198668730	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:198668730C>G	ENST00000367376.2	+	5	501	c.330C>G	c.(328-330)caC>caG	p.H110Q	PTPRC_ENST00000352140.3_Missense_Mutation_p.H110Q|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000442510.2_Missense_Mutation_p.H112Q	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	110					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.H110Q(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTCCCACGCACGCAGACTCGC	0.517000											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	158					0	0	0.000978	0	0
PRSS23	11098	broad.mit.edu	37	11	86519409	86519409	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:86519409G>T	ENST00000280258.5	+	2	1149	c.724G>T	c.(724-726)Ggc>Tgc	p.G242C	PRSS23_ENST00000441050.1_Missense_Mutation_p.G210C|PRSS23_ENST00000533902.2_Intron	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	242					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity	p.G242C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAATGACATCGGCATGGATTA	0.522000													12	51					1.5842e-08	2.33136e-08	0.001855	1	0
TRPV5	56302	broad.mit.edu	37	7	142626598	142626598	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:142626598T>G	ENST00000265310.1	-	4	760	c.412A>C	c.(412-414)Acc>Ccc	p.T138P	TRPV5_ENST00000442623.1_Missense_Mutation_p.T138P	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	138					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.T138P(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GCCCTGCGGGTGAGCAGGGCA	0.602000													23	81					0	0	0.004656	0	0
CD96	10225	broad.mit.edu	37	3	111342670	111342670	+	Splice_Site	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:111342670G>T	ENST00000352690.4	+	9	1489		c.e9+1		CD96_ENST00000283285.5_Splice_Site	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule						cell adhesion|immune response|regulation of immune response	integral to plasma membrane		p.?(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						ACTCCTCAACGTGAGTTCAGC	0.383000									Opitz Trigonocephaly syndrome				8	46					0.000274275	0.000330884	0.004482	1	0
TSHZ2	128553	broad.mit.edu	37	20	51870809	51870809	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:51870809C>A	ENST00000371497.5	+	2	1699	c.812C>A	c.(811-813)gCt>gAt	p.A271D	TSHZ2_ENST00000329613.6_Missense_Mutation_p.A268D|TSHZ2_ENST00000603338.2_Missense_Mutation_p.A268D	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	271					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A271D(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAAGAGGATGCTCAAAAGGTT	0.438000													13	29					1.49906e-05	1.90978e-05	0.002450	1	0
CXCL12	6387	broad.mit.edu	37	10	44871442	44871442	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:44871442A>G	ENST00000374426.2	-	4	342	c.305T>C	c.(304-306)aTa>aCa	p.I102T	CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000374429.2_Intron	NM_001033886.2	NP_001029058.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	0					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity	p.I102T(1)		endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	CTTTTTTCCTATCTTTTCTTT	0.413000													8	145					0	0	0.004482	0	0
SPTA1	6708	broad.mit.edu	37	1	158596725	158596725	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:158596725G>A	ENST00000368148.3	-	41	5917	c.5737C>T	c.(5737-5739)Ctg>Ttg	p.L1913L	SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Silent_p.L1910L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1913					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.L1913L(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCTTAGCCAGAGAAGGGGTC	0.438000													22	277					0	0	0.002780	0	0
HSF5	124535	broad.mit.edu	37	17	56557394	56557394	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:56557394G>A	ENST00000323777.3	-	2	894	c.785C>T	c.(784-786)cCa>cTa	p.P262L		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	262						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P262L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AACCTCAGTTGGAAACCTCTG	0.463000													14	208					0	0	0.001855	0	0
COL9A2	1298	broad.mit.edu	37	1	40776820	40776820	+	Splice_Site	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:40776820T>A	ENST00000372748.3	-	12	673		c.e12-2			NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2						axon guidance|skeletal system development	collagen type IX		p.?(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CGCATGCCCCTGAAGGGAAGG	0.622000													14	39					0	0	0.004007	0	0
TTC21A	199223	broad.mit.edu	37	3	39170265	39170265	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:39170265G>T	ENST00000301819.6	+	14	1939	c.1762G>T	c.(1762-1764)Gac>Tac	p.D588Y	TTC21A_ENST00000431162.2_Missense_Mutation_p.D587Y|TTC21A_ENST00000440121.1_Missense_Mutation_p.D539Y	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	587							binding	p.D588Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CAAGGCTGGAGACTATCCAGA	0.552000													45	118					2.56662e-36	5.11475e-36	0.003214	1	0
PTK7	5754	broad.mit.edu	37	6	43109784	43109784	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:43109784G>C	ENST00000230419.4	+	12	2105	c.1884G>C	c.(1882-1884)aaG>aaC	p.K628N	PTK7_ENST00000481273.1_Missense_Mutation_p.K636N|PTK7_ENST00000349241.2_Missense_Mutation_p.K498N|PTK7_ENST00000352931.2_Intron|PTK7_ENST00000345201.2_Missense_Mutation_p.K588N	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	628	Ig-like C2-type 7.				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	p.K628N(1)		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)			GGAAAGGCAAGGACCGCATCC	0.662000													13	23					0	0	0.001855	0	0
MORC2	22880	broad.mit.edu	37	22	31342403	31342403	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:31342403C>A	ENST00000215862.4	-	7	1528	c.165G>T	c.(163-165)ctG>ctT	p.L55L	MORC2_ENST00000397641.2_Silent_p.L117L	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	117							ATP binding|zinc ion binding	p.L55L(1)		breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TCTTGGTGAACAGGATAAAAT	0.463000													44	172					3.86236e-30	7.57863e-30	0.003610	1	0
ZNF521	25925	broad.mit.edu	37	18	22807426	22807426	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:22807426A>C	ENST00000361524.3	-	4	604	c.456T>G	c.(454-456)agT>agG	p.S152R	ZNF521_ENST00000538137.2_Missense_Mutation_p.S152R|ZNF521_ENST00000584787.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	152					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.S152R(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGAACAGCCTACTGCAGTAGG	0.498000			T	PAX5	ALL								30	115					0	0	0.001786	0	0
SPACA1	81833	broad.mit.edu	37	6	88773879	88773879	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:88773879A>G	ENST00000237201.1	+	6	790	c.673A>G	c.(673-675)Ata>Gta	p.I225V	SPACA1_ENST00000462690.1_Intron	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	225						integral to membrane		p.I225V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TGTGCTGACCATAGGAGTCAT	0.368000													6	99					0	0	0.001168	0	0
EED	8726	broad.mit.edu	37	11	85979601	85979601	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:85979601A>G	ENST00000263360.6	+	9	1650	c.964A>G	c.(964-966)Aag>Gag	p.K322E	EED_ENST00000351625.6_Missense_Mutation_p.K322E|EED_ENST00000327320.4_Missense_Mutation_p.K322E|EED_ENST00000528180.1_Intron	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	322	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	p.K322E(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GATACTTTCTAAGGTATGGTA	0.408000													20	94					0	0	0.001882	0	0
NLRP3	114548	broad.mit.edu	37	1	247587718	247587718	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:247587718G>A	ENST00000366497.2	+	4	1753	c.973G>A	c.(973-975)Gcc>Acc	p.A325T	NLRP3_ENST00000336119.3_Missense_Mutation_p.A325T|NLRP3_ENST00000391828.3_Missense_Mutation_p.A325T|NLRP3_ENST00000391827.2_Missense_Mutation_p.A325T|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.A325T|NLRP3_ENST00000348069.2_Missense_Mutation_p.A325T	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	325	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.A325T(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTGGCAGAAGGCCGAGCGGGG	0.572000													5	105					0	0	0.001168	0	0
HMCN1	83872	broad.mit.edu	37	1	186031015	186031015	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:186031015A>G	ENST00000271588.4	+	47	7574	c.7345A>G	c.(7345-7347)Atg>Gtg	p.M2449V	HMCN1_ENST00000367492.2_Missense_Mutation_p.M2449V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2449	Ig-like C2-type 22.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.M2449V(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCAGACCACAATGGAAGATGC	0.383000													18	105					0	0	0.008871	0	0
CWF19L2	143884	broad.mit.edu	37	11	107224348	107224348	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:107224348C>A	ENST00000282251.5	-	13	2014	c.1987G>T	c.(1987-1989)Gct>Tct	p.A663S	CWF19L2_ENST00000433523.1_Missense_Mutation_p.A663S	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	663							catalytic activity	p.A663S(1)|p.A509S(1)		endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CGATGCTCAGCAATAGCTTTT	0.418000													39	73					1.30998e-17	2.34582e-17	0.005524	1	0
PDZRN3	23024	broad.mit.edu	37	3	73433421	73433421	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:73433421T>A	ENST00000263666.4	-	10	2410	c.2296A>T	c.(2296-2298)Agc>Tgc	p.S766C	PDZRN3_ENST00000479530.1_Missense_Mutation_p.S483C|PDZRN3_ENST00000535920.1_Missense_Mutation_p.S488C|PDZRN3_ENST00000466780.1_Missense_Mutation_p.S423C|PDZRN3_ENST00000462146.2_Missense_Mutation_p.S423C	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	766							ubiquitin-protein ligase activity|zinc ion binding	p.S766C(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AGCGGGGTGCTGCGGCAGCTC	0.647000													6	40					0	0	0.001984	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745707	77745707	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:77745707C>A	ENST00000409088.3	-	3	1702	c.1288G>T	c.(1288-1290)Gtg>Ttg	p.V430L	LRRTM4_ENST00000409282.1_Missense_Mutation_p.V431L|LRRTM4_ENST00000409911.1_Missense_Mutation_p.V431L|LRRTM4_ENST00000409093.1_Missense_Mutation_p.V430L|LRRTM4_ENST00000409884.1_Missense_Mutation_p.V430L	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	430						integral to membrane		p.V430L(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AAGAGAGCCACACTCCCGGCA	0.478000													21	56					2.37509e-13	3.93871e-13	0.001523	1	0
SEMA3D	223117	broad.mit.edu	37	7	84685079	84685079	+	Missense_Mutation	SNP	C	C	A	rs150804633		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:84685079C>A	ENST00000284136.6	-	7	858	c.815G>T	c.(814-816)aGt>aTt	p.S272I	SEMA3D_ENST00000444867.1_Missense_Mutation_p.S272I	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	272	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						ATCGGAGGTACTGCCTTCTTG	0.294000													14	72					3.45872e-05	4.36614e-05	0.004007	1	0
SORL1	6653	broad.mit.edu	37	11	121495847	121495847	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:121495847G>T	ENST00000260197.7	+	46	6354	c.6225G>T	c.(6223-6225)ggG>ggT	p.G2075G	SORL1_ENST00000527934.1_Silent_p.G690G|SORL1_ENST00000525532.1_Silent_p.G1019G|SORL1_ENST00000532694.1_Silent_p.G921G|SORL1_ENST00000534286.1_Silent_p.G985G	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	2075	Fibronectin type-III 6.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	p.G2075G(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTTACCTTGGGAATACTACTG	0.398000													40	122					2.95478e-19	5.36644e-19	0.008740	1	0
TRPM5	29850	broad.mit.edu	37	11	2432703	2432703	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:2432703G>A	ENST00000452833.1	-	18	2675	c.2667C>T	c.(2665-2667)taC>taT	p.Y889Y	TRPM5_ENST00000528453.1_Silent_p.Y887Y|TRPM5_ENST00000155858.6_Silent_p.Y887Y|TRPM5_ENST00000533060.1_Silent_p.Y887Y			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	887						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	p.Y887Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGGTGACACCGTAGGCCACGA	0.652000													17	35					0	0	0.006122	0	0
SULT4A1	25830	broad.mit.edu	37	22	44237804	44237804	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:44237804A>T	ENST00000330884.4	-	2	298	c.178T>A	c.(178-180)Ttg>Atg	p.L60M	SULT4A1_ENST00000249130.5_Missense_Mutation_p.L60M|SULT4A1_ENST00000540422.1_Intron	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	60					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity	p.L60M(1)		kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		TCCTGCAGCAAGCTGGTGCCT	0.667000													8	42					0	0	0.004482	0	0
EXOC1	55763	broad.mit.edu	37	4	56726659	56726659	+	Silent	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:56726659A>G	ENST00000381295.2	+	3	555	c.207A>G	c.(205-207)gcA>gcG	p.A69A	EXOC1_ENST00000349598.6_Silent_p.A69A|EXOC1_ENST00000346134.7_Silent_p.A69A	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	69					exocytosis|protein transport	exocyst	protein binding	p.A69A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GGCAGATTGCATGGGCCCTTC	0.428000													18	77					0	0	0.001523	0	0
CNOT4	4850	broad.mit.edu	37	7	135106985	135106985	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:135106985T>A	ENST00000428680.2	-	3	571	c.292A>T	c.(292-294)Aaa>Taa	p.K98*	CNOT4_ENST00000423368.2_Nonsense_Mutation_p.K98*|CNOT4_ENST00000356162.4_Nonsense_Mutation_p.K98*|CNOT4_ENST00000414802.1_Nonsense_Mutation_p.K98*|CNOT4_ENST00000451834.1_Nonsense_Mutation_p.K98*|CNOT4_ENST00000315544.5_Nonsense_Mutation_p.K98*|CNOT4_ENST00000361528.4_Nonsense_Mutation_p.K98*|CNOT4_ENST00000541284.1_Nonsense_Mutation_p.K98*	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	98					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.K98*(4)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GCCAAATGTTTGCGATTTTCT	0.388000													33	99					0	0	0.004289	0	0
SCN4A	6329	broad.mit.edu	37	17	62025346	62025346	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:62025346G>T	ENST00000578147.1	-	17	3298	c.3222C>A	c.(3220-3222)taC>taA	p.Y1074*	SCN4A_ENST00000435607.1_Nonsense_Mutation_p.Y1074*			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1074					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Y1074*(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TGATGAAGATGTAGGTGAAGA	0.547000													23	23					3.8784e-16	6.79847e-16	0.001882	1	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077466	32077466	+	RNA	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:32077466C>T	ENST00000354689.6	+	0	81				RP11-1166P10.6_ENST00000566806.1_RNA																							CCTCTGGATTCACCTTCAGTA	0.562000													36	276					0	0	0.004289	0	0
COL6A3	1293	broad.mit.edu	37	2	238275663	238275663	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:238275663G>T	ENST00000295550.4	-	11	5619	c.5167C>A	c.(5167-5169)Ctt>Att	p.L1723I	COL6A3_ENST00000472056.1_Missense_Mutation_p.L1116I|COL6A3_ENST00000409809.1_Missense_Mutation_p.L1517I|COL6A3_ENST00000353578.4_Missense_Mutation_p.L1517I|COL6A3_ENST00000347401.3_Missense_Mutation_p.L1522I|COL6A3_ENST00000346358.4_Missense_Mutation_p.L1523I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1723	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.L1723I(1)		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)		AGGTGCTCAAGGCCCACCTTA	0.547000													7	53					5.18039e-06	6.77656e-06	0.003080	1	0
HCRTR2	3062	broad.mit.edu	37	6	55145222	55145222	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:55145222T>A	ENST00000370862.3	+	6	1421	c.1085T>A	c.(1084-1086)aTt>aAt	p.I362N		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	362					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.I362N(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCGAATCCAATTATTTATAAT	0.388000													34	68					0	0	0.002445	0	0
PXDNL	137902	broad.mit.edu	37	8	52232456	52232456	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:52232456G>T	ENST00000356297.4	-	23	4487	c.4387C>A	c.(4387-4389)Cgc>Agc	p.R1463S	PXDNL_ENST00000543296.1_3'UTR|RP11-401H2.1_ENST00000521294.1_RNA	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1463					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.R1463S(1)		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)				TTTTATTAGCGCTTCTCTGGG	0.458000													6	36					0.00198382	0.00231911	0.001984	1	0
ADAM21P1	145241	broad.mit.edu	37	14	70713178	70713178	+	RNA	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:70713178C>T	ENST00000530196.1	-	0	1340					NR_003951.1																						AGATTTCCCCCAATCTTGGAG	0.448000													31	52					0	0	0.002096	0	0
GPR133	283383	broad.mit.edu	37	12	131605422	131605422	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:131605422C>T	ENST00000261654.5	+	20	2698	c.2139C>T	c.(2137-2139)atC>atT	p.I713I	GPR133_ENST00000543617.1_Silent_p.I232I|GPR133_ENST00000376682.4_Silent_p.I399I|GPR133_ENST00000535015.1_Silent_p.I745I	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	713					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I713I(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GTGGCGCCATCTGGGCCTTTG	0.612000													15	114					0	0	0.003163	0	0
PRKD2	25865	broad.mit.edu	37	19	47195022	47195022	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:47195022C>A	ENST00000433867.1	-	13	2149	c.1672G>T	c.(1672-1674)Ggc>Tgc	p.G558C	PRKD2_ENST00000291281.4_Missense_Mutation_p.G558C|PRKD2_ENST00000601806.1_Missense_Mutation_p.G401C|PRKD2_ENST00000600194.1_Missense_Mutation_p.G401C|PRKD2_ENST00000595515.1_Missense_Mutation_p.G558C	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN	protein kinase D2	558	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	p.G558C(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TGCCCTGAGCCCAGCACTTCG	0.592000													18	76					1.9806e-07	2.76518e-07	0.002299	1	0
PPP1R15B	84919	broad.mit.edu	37	1	204379097	204379097	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:204379097G>C	ENST00000367188.4	-	1	1822	c.1443C>G	c.(1441-1443)ttC>ttG	p.F481L	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	481					regulation of translation			p.F481L(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			CTACACTGCAGAAAGAGTTCC	0.448000													11	160					0	0	0.001368	0	0
DECR1	1666	broad.mit.edu	37	8	91063968	91063968	+	Splice_Site	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:91063968G>T	ENST00000522161.1	+	11	1604		c.e11+1		DECR1_ENST00000220764.2_Splice_Site			Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial						fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH	p.?(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CCTGAGAAAGGTAATGCTTTT	0.328000													13	27					1.05317e-09	1.60097e-09	0.002450	1	0
GRK5	2869	broad.mit.edu	37	10	121086101	121086101	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:121086101T>A	ENST00000392870.2	+	2	455	c.126T>A	c.(124-126)tgT>tgA	p.C42*		NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	42	N-terminal.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	p.C42*(1)		endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TTAGCCAGTGTGAAGACCTCC	0.537000													11	46					0	0	0.008291	0	0
EGFLAM	133584	broad.mit.edu	37	5	38370546	38370546	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:38370546G>A	ENST00000322350.5	+	6	1040	c.694G>A	c.(694-696)Gac>Aac	p.D232N	EGFLAM_ENST00000354891.3_Missense_Mutation_p.D232N	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	232	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse		p.D232N(2)		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)					CTGGCCCAGTGACATCATCCG	0.577000													4	55					0	0	0.000248	0	0
OR8J1	219477	broad.mit.edu	37	11	56127765	56127765	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:56127765A>T	ENST00000303039.3	+	1	75	c.43A>T	c.(43-45)Aca>Tca	p.T15S		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T15S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GTTTATTCTTACAGGTGTCTC	0.463000													13	150					0	0	0.004990	0	0
FLRT3	23767	broad.mit.edu	37	20	14306824	14306824	+	Silent	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:14306824C>G	ENST00000378053.3	-	2	1585	c.1329G>C	c.(1327-1329)ctG>ctC	p.L443L	MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Silent_p.L443L	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	443	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.L443L(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		GGCTATGGCCCAGTTTAAGCC	0.448000													25	86					0	0	0.003330	0	0
CUL3	8452	broad.mit.edu	37	2	225368392	225368392	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:225368392T>C	ENST00000264414.4	-	9	1692	c.1354A>G	c.(1354-1356)Aaa>Gaa	p.K452E	CUL3_ENST00000409777.1_Missense_Mutation_p.K428E|CUL3_ENST00000344951.4_Missense_Mutation_p.K386E|CUL3_ENST00000409096.1_Missense_Mutation_p.K428E	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	452					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	p.K452E(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ATCATGTTTTTTTCAGAGTCA	0.318000													4	40					0	0	0.000602	0	0
FCGR2A	2212	broad.mit.edu	37	1	161479793	161479793	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:161479793G>T	ENST00000271450.6	+	4	586	c.548G>T	c.(547-549)gGt>gTt	p.G183V	FCGR2A_ENST00000467525.1_3'UTR|FCGR2A_ENST00000367972.4_Missense_Mutation_p.G182V	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	183	Ig-like C2-type 2.					integral to membrane|plasma membrane	IgG binding|receptor activity	p.G182V(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		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)	AGTCACAGTGGTGATTACCAC	0.498000													24	100					2.44723e-14	4.15379e-14	0.004656	1	0
XIRP1	165904	broad.mit.edu	37	3	39226648	39226648	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:39226648G>T	ENST00000340369.3	-	2	4517	c.4289C>A	c.(4288-4290)gCc>gAc	p.A1430D	XIRP1_ENST00000421646.1_Missense_Mutation_p.A113D|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1430							actin binding	p.A1430E(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ATGGTTGAGGGCATTGAGCTT	0.642000													7	100					1.06961e-07	1.50599e-07	0.003080	1	0
DYNC2H1	79659	broad.mit.edu	37	11	103039571	103039571	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:103039571A>T	ENST00000375735.2	+	32	4994	c.4850A>T	c.(4849-4851)cAg>cTg	p.Q1617L	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.Q1617L|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	1617	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AACCAAATTCAGGTTCATACA	0.353000													7	72					0	0	0.001984	0	0
KRTAP9-8	83901	broad.mit.edu	37	17	39394620	39394620	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:39394620A>G	ENST00000254072.6	+	1	324	c.317A>G	c.(316-318)tAc>tGc	p.Y106C		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	106	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament		p.Y106C(1)		lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			AGAACCTGCTACCACCCCACG	0.627000													22	119					0	0	0.002299	0	0
ZFP14	57677	broad.mit.edu	37	19	36831385	36831385	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:36831385C>G	ENST00000270001.7	-	5	1458	c.1343G>C	c.(1342-1344)gGt>gCt	p.G448A		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G448A(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					AGGTTTCTCACCAGTGTGAAT	0.403000													4	121					0	0	0.000248	0	0
NMI	9111	broad.mit.edu	37	2	152132019	152132019	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:152132019T>C	ENST00000243346.5	-	6	1083	c.613A>G	c.(613-615)Atc>Gtc	p.I205V		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	205					inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity	p.I205V(1)		endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		ACAAACGTGATGACTGCACTC	0.468000													6	95					0	0	0.001984	0	0
PPM1G	5496	broad.mit.edu	37	2	27607565	27607565	+	Missense_Mutation	SNP	G	G	A	rs150808424		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:27607565G>A	ENST00000344034.4	-	5	1064	c.800C>T	c.(799-801)gCg>gTg	p.A267V	PPM1G_ENST00000350803.4_Missense_Mutation_p.A267V	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	267	Asp/Glu-rich (acidic).|Poly-Glu.				cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	p.A267V(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TTCTTCCTCCGCCTCATCTGA	0.537000													20	145					0	0	0.008871	0	0
KCNK18	338567	broad.mit.edu	37	10	118969189	118969189	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:118969189C>T	ENST00000334549.1	+	3	534	c.534C>T	c.(532-534)tcC>tcT	p.S178S		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	178						integral to membrane|plasma membrane		p.S178S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CCCTCCTCTCCAAGTGGTGCC	0.517000													25	93					0	0	0.003330	0	0
OR5F1	338674	broad.mit.edu	37	11	55761253	55761253	+	Silent	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:55761253G>C	ENST00000278409.1	-	1	848	c.849C>G	c.(847-849)ccC>ccG	p.P283P		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P283P(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GATTCAACATGGGAATCACCA	0.443000													31	85					0	0	0.001786	0	0
TTN	7273	broad.mit.edu	37	2	179494983	179494983	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:179494983G>T	ENST00000589042.1	-	239	44490	c.44266C>A	c.(44266-44268)Cac>Aac	p.H14756N	TTN_ENST00000359218.5_Missense_Mutation_p.H5816N|TTN_ENST00000342175.6_Missense_Mutation_p.H5883N|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H13115N|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H12188N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H5691N|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13115	Fibronectin type-III 6.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.H12188N(2)|p.H5883N(1)|p.H5691N(1)|p.H5816N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCGGAGGTGGGCACTAGAT	0.388000													44	83					4.02871e-13	6.66765e-13	0.003610	1	0
MANBA	4126	broad.mit.edu	37	4	103595107	103595107	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:103595107C>A	ENST00000226578.4	-	8	1180	c.1081G>T	c.(1081-1083)Gat>Tat	p.D361Y	MANBA_ENST00000505239.1_Missense_Mutation_p.D304Y	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	361					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding	p.D361Y(1)		cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TGGAATGAATCTGCTGGGATC	0.373000													15	70					5.3912e-06	7.04123e-06	0.006122	1	0
SAMD9	54809	broad.mit.edu	37	7	92731987	92731987	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:92731987C>T	ENST00000379958.2	-	3	3693	c.3424G>A	c.(3424-3426)Ggg>Agg	p.G1142R		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1142						cytoplasm		p.G1142W(1)|p.G1142R(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GAAATGTTCCCGTTTCCTCCG	0.368000													16	226					0	0	0.004990	0	0
OR5T1	390155	broad.mit.edu	37	11	56043987	56043987	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:56043987C>A	ENST00000313033.2	+	1	959	c.873C>A	c.(871-873)acC>acA	p.T291T		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T291T(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TATTTTATACCATTGTGATTC	0.383000													34	128					6.70999e-13	1.09848e-12	0.004289	1	0
OVCH1	341350	broad.mit.edu	37	12	29604465	29604465	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:29604465G>A	ENST00000318184.5	-	22	2567	c.2568C>T	c.(2566-2568)ggC>ggT	p.G856G	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	856	CUB 3.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.G856G(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGGGAAAAAAGCCTCTAGGCT	0.428000													11	27					0	0	0.002450	0	0
LMX1A	4009	broad.mit.edu	37	1	165173231	165173231	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:165173231G>A	ENST00000342310.3	-	9	1417	c.1035C>T	c.(1033-1035)ctC>ctT	p.L345L	LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000367893.4_Silent_p.L345L|LMX1A_ENST00000294816.2_Silent_p.L345L	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	345						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L345L(1)		NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CCAGGTTACTGAGGGAGGTGT	0.507000													8	114					0	0	0.004482	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140763276	140763276	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:140763276C>A	ENST00000518325.1	+	1	810	c.810C>A	c.(808-810)gaC>gaA	p.D270E	PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018920.2	NP_061743.1												p.D270E(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGACCTGGACGAGGGAGTCA	0.463000													5	39					0.000602214	0.0007161	0.000602	1	0
PRPF8	10594	broad.mit.edu	37	17	1578503	1578503	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:1578503C>A	ENST00000572621.1	-	19	3268	c.3003G>T	c.(3001-3003)gtG>gtT	p.V1001V	PRPF8_ENST00000304992.6_Silent_p.V1001V			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1001						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	p.V1001V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGTTGTGGTCCACGATGAGGC	0.512000													14	38					3.27435e-08	4.706e-08	0.002450	1	0
SACS	26278	broad.mit.edu	37	13	23906719	23906719	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:23906719C>A	ENST00000382298.3	-	10	11884	c.11296G>T	c.(11296-11298)Gta>Tta	p.V3766L	SACS_ENST00000382292.3_Missense_Mutation_p.V3766L|SACS_ENST00000402364.1_Missense_Mutation_p.V3016L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3766					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	p.V3766L(1)|p.V3619L(1)		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)		CTAGTTTTTACCATTTCTTCA	0.363000													11	47					1.58986e-06	2.1318e-06	0.008291	1	0
OR52N2	390077	broad.mit.edu	37	11	5842333	5842333	+	Silent	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:5842333T>A	ENST00000317037.2	+	1	790	c.768T>A	c.(766-768)gcT>gcA	p.A256A	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A256A(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTATGTTGCTGCTTTTTTCA	0.448000													10	105					0	0	0.008291	0	0
UBN2	254048	broad.mit.edu	37	7	138944042	138944042	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:138944042G>T	ENST00000288561.8	+	5	831	c.582G>T	c.(580-582)gaG>gaT	p.E194D	UBN2_ENST00000473989.2_Missense_Mutation_p.E277D	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	277								p.E194D(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						ATGATATTGAGATGAAGAAGC	0.378000													27	58					5.6714e-07	7.75497e-07	0.002096	1	0
LPHN2	23266	broad.mit.edu	37	1	82433803	82433803	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:82433803G>T	ENST00000370728.1	+	16	3076	c.2431G>T	c.(2431-2433)Gac>Tac	p.D811Y	LPHN2_ENST00000370725.1_Missense_Mutation_p.D811Y|LPHN2_ENST00000370717.2_Missense_Mutation_p.D811Y|LPHN2_ENST00000370730.1_Missense_Mutation_p.D811Y|LPHN2_ENST00000370715.1_Missense_Mutation_p.D798Y|LPHN2_ENST00000394879.1_Missense_Mutation_p.D798Y|LPHN2_ENST00000370713.1_Missense_Mutation_p.D798Y|LPHN2_ENST00000370727.1_Missense_Mutation_p.D811Y|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370721.1_Missense_Mutation_p.D736Y|LPHN2_ENST00000271029.4_Missense_Mutation_p.D811Y|LPHN2_ENST00000335786.5_Missense_Mutation_p.D811Y|LPHN2_ENST00000359929.3_Missense_Mutation_p.D798Y|LPHN2_ENST00000319517.6_Missense_Mutation_p.D798Y|LPHN2_ENST00000370723.1_Missense_Mutation_p.D798Y			O95490	LPHN2_HUMAN	latrophilin 2	811	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.D798Y(1)|p.D811Y(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CAAGCTGGTTGACACTAATAA	0.438000													17	73					4.14922e-12	6.69359e-12	0.004007	1	0
MC2R	4158	broad.mit.edu	37	18	13885213	13885213	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:13885213G>A	ENST00000327606.3	-	2	485	c.305C>T	c.(304-306)gCc>gTc	p.A102V		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	102					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	p.A102V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	GATGTCATCGGCTGTGGTTTC	0.488000													14	57					0	0	0.003163	0	0
SLIT2	9353	broad.mit.edu	37	4	20543209	20543209	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:20543209G>A	ENST00000504154.1	+	20	2362	c.2110G>A	c.(2110-2112)Gat>Aat	p.D704N	SLIT2_ENST00000503837.1_Missense_Mutation_p.D700N|SLIT2_ENST00000503823.1_Missense_Mutation_p.D696N|SLIT2_ENST00000273739.5_Missense_Mutation_p.D708N	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	704	LRRCT 3.				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	p.D704N(1)		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						ACCCATCCAGGATGTGGCCAT	0.443000													7	48					0	0	0.001984	0	0
SAMD9	54809	broad.mit.edu	37	7	92734749	92734749	+	Missense_Mutation	SNP	C	C	A	rs148603551		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:92734749C>A	ENST00000379958.2	-	3	931	c.662G>T	c.(661-663)cGa>cTa	p.R221L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	221						cytoplasm		p.R221L(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGAAGCAAATCGGAAAACCTC	0.398000													49	140					1.30409e-13	2.18005e-13	0.003610	1	0
DCAF6	55827	broad.mit.edu	37	1	167956802	167956802	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:167956802G>A	ENST00000367840.3	+	5	602	c.508G>A	c.(508-510)Gat>Aat	p.D170N	DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000312263.6_Missense_Mutation_p.D170N|DCAF6_ENST00000432587.2_Missense_Mutation_p.D139N|DCAF6_ENST00000367843.3_Missense_Mutation_p.D170N	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	170					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	p.D170N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TAGGTGGTTTGATACACGCAT	0.313000													9	59					0	0	0.008291	0	0
PDGFA	5154	broad.mit.edu	37	7	550517	550517	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:550517G>A	ENST00000402802.3	-	4	789	c.382C>T	c.(382-384)Cgc>Tgc	p.R128C	PDGFA_ENST00000354513.5_Missense_Mutation_p.R128C	NM_033023.4	NP_148983.1	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha polypeptide	128					actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development	cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity	p.R128C(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		CCGGTGCAGCGTTTCACCTCC	0.647000													7	14					0	0	0.003080	0	0
DMWD	1762	broad.mit.edu	37	19	46287940	46287940	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:46287940C>T	ENST00000270223.6	-	4	1981	c.1936G>A	c.(1936-1938)Gaa>Aaa	p.E646K	DMWD_ENST00000377735.3_Intron|AC011530.4_ENST00000593999.1_Intron	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	646					meiosis			p.E646K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		caacttccttcccctgtctgg	0.572000													35	118					0	0	0.005524	0	0
TGDS	23483	broad.mit.edu	37	13	95235491	95235491	+	Splice_Site	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:95235491C>G	ENST00000261296.5	-	5	434		c.e5-1		TGDS_ENST00000498294.1_Splice_Site	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase						cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding	p.?(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					AATGAAAGATCTAAAAGAAAA	0.383000													3	10					0	0	0.004672	0	0
DOCK3	1795	broad.mit.edu	37	3	51370646	51370646	+	Silent	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:51370646C>G	ENST00000266037.9	+	35	3596	c.3573C>G	c.(3571-3573)acC>acG	p.T1191T		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1191	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.T1191T(1)|p.T1180T(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCTTTGTGACCTCAGTCACCC	0.527000													13	135					0	0	0.001855	0	0
FGF14	2259	broad.mit.edu	37	13	102375181	102375181	+	Nonstop_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:102375181C>A	ENST00000376131.4	-	5	854	c.759G>T	c.(757-759)taG>taT	p.*253Y	ITGBL1_ENST00000415285.1_Intron|FGF14_ENST00000376143.4_Nonstop_Mutation_p.*248Y	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	0					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	p.*253Y(1)|p.*248Y(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GAGGATCTGGCTATGTTGTCT	0.502000													14	44					2.61681e-11	4.14495e-11	0.002450	1	0
CUL4A	8451	broad.mit.edu	37	13	113897369	113897369	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:113897369G>A	ENST00000451881.1	+	11	1072	c.823G>A	c.(823-825)Gtg>Atg	p.V275M	CUL4A_ENST00000375440.4_Missense_Mutation_p.V375M|CUL4A_ENST00000375441.3_Missense_Mutation_p.V275M|CUL4A_ENST00000326335.4_Missense_Mutation_p.V275M	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	375					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding	p.V275M(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			GGTGGACCACGTGATCGAGGT	0.468000													17	66					0	0	0.006122	0	0
COL27A1	85301	broad.mit.edu	37	9	116931198	116931198	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:116931198C>T	ENST00000356083.3	+	3	1754	c.1363C>T	c.(1363-1365)Ccc>Tcc	p.P455S		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	455	Pro-rich.				cell adhesion		extracellular matrix structural constituent	p.P455S(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						AAAACCCATTCCCACACTAGC	0.612000													7	161					0	0	0.004482	0	0
OR5K1	26339	broad.mit.edu	37	3	98189049	98189049	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:98189049C>A	ENST00000332650.5	+	1	726	c.629C>A	c.(628-630)aCc>aAc	p.T210N		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T210N(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAAGTCTTTACCATAGGTAGT	0.348000													41	137					1.67305e-13	2.78004e-13	0.006230	1	0
MUC16	94025	broad.mit.edu	37	19	9058698	9058698	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:9058698G>T	ENST00000397910.4	-	3	28951	c.28748C>A	c.(28747-28749)cCt>cAt	p.P9583H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9585	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P9583H(1)|p.P5216H(1)		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						CCTCAGTCCAGGGGTCAGAGA	0.512000													9	39					7.48243e-07	1.01312e-06	0.006214	1	0
KIAA0513	9764	broad.mit.edu	37	16	85109450	85109450	+	Splice_Site	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:85109450G>T	ENST00000566428.1	+	5	1135	c.503_splice	c.e5-1	p.E168_splice	KIAA0513_ENST00000567328.1_Splice_Site_p.E168_splice|KIAA0513_ENST00000258180.3_Splice_Site_p.E168_splice|KIAA0513_ENST00000538274.1_Splice_Site_p.E168_splice			O60268	K0513_HUMAN	KIAA0513	168						cytoplasm		p.E168D(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		CTTGTTTCAGGTGTCATCAGA	0.522000													11	58					1.08611e-07	1.52147e-07	0.000978	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110497320	110497320	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:110497320G>C	ENST00000378402.5	+	58	9728	c.9624G>C	c.(9622-9624)caG>caC	p.Q3208H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3208					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.Q3210H(1)		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)			ATTTCCACCAGACAGAAACAA	0.318000										HNSCC(38;0.096)			26	48					0	0	0.003330	0	0
DAP3	7818	broad.mit.edu	37	1	155699058	155699058	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:155699058G>A	ENST00000368336.5	+	9	868	c.744G>A	c.(742-744)aaG>aaA	p.K248K	DAP3_ENST00000343043.3_Silent_p.K248K|DAP3_ENST00000535183.1_Silent_p.K207K|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000421487.2_Silent_p.K214K|DAP3_ENST00000471214.1_3'UTR	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	248					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding	p.K248K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AAGAGCTAAAGAGGCAAAGTT	0.488000													60	108					0	0	0.003610	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130215686	130215686	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:130215686C>A	ENST00000276211.5	+	2	392	c.47C>A	c.(46-48)cCc>cAc	p.P16H	ARHGAP36_ENST00000370922.1_Intron	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	16					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.P16H(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCACTGTGCCCCAGAATCATG	0.527000													39	57					1.49673e-21	2.76987e-21	0.006230	1	0
CDON	50937	broad.mit.edu	37	11	125864222	125864222	+	Silent	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:125864222T>A	ENST00000392693.3	-	14	2734	c.2607A>T	c.(2605-2607)acA>acT	p.T869T	CDON_ENST00000531738.1_Silent_p.T246T|CDON_ENST00000263577.7_Silent_p.T869T	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	869	Fibronectin type-III 3.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	p.T869T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TGTCACTATCTGTTGGTCGGT	0.388000													5	38					0	0	0.001984	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103182692	103182692	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:103182692G>C	ENST00000375735.2	+	79	11723	c.11579G>C	c.(11578-11580)cGa>cCa	p.R3860P	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R3867P|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	3860	AAA 6 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	p.R1300Q(3)|p.R1300P(1)		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)		AATACACATCGAGCTCATGCT	0.358000													22	118					0	0	0.001882	0	0
XIRP2	129446	broad.mit.edu	37	2	168099305	168099305	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:168099305C>A	ENST00000409195.1	+	9	1492	c.1403C>A	c.(1402-1404)gCa>gAa	p.A468E	XIRP2_ENST00000295237.9_Missense_Mutation_p.A468E|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.A246E|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	293					actin cytoskeleton organization	cell junction	actin binding	p.A468E(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATGTGACAGCATTTTCCCAG	0.428000													25	65					4.59853e-10	7.07466e-10	0.005443	1	0
ROR2	4920	broad.mit.edu	37	9	94493208	94493208	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:94493208A>C	ENST00000375708.3	-	7	1365	c.1167T>G	c.(1165-1167)tgT>tgG	p.C389W	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.C249W	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	389	Kringle.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	p.C389W(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGGGTACGTCACACAGTTCCA	0.527000													13	55					0	0	0.001855	0	0
MROH2B	133558	broad.mit.edu	37	5	41010120	41010120	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:41010120C>T	ENST00000399564.4	-	31	3647	c.3197G>A	c.(3196-3198)aGt>aAt	p.S1066N	MROH2B_ENST00000506092.2_Missense_Mutation_p.S621N	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.S1066N(1)									GAACTGAAAACTTTCTTCTTT	0.408000													19	69					0	0	0.007413	0	0
PTPRR	5801	broad.mit.edu	37	12	71094917	71094917	+	Splice_Site	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:71094917C>T	ENST00000283228.2	-	7	1646	c.1194_splice	c.e7+1	p.M398_splice	PTPRR_ENST00000440835.2_Splice_Site_p.M153_splice|PTPRR_ENST00000378778.1_Splice_Site_p.M192_splice|PTPRR_ENST00000342084.4_Splice_Site_p.M286_splice|PTPRR_ENST00000549308.1_Splice_Site_p.M153_splice	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	398	Tyrosine-protein phosphatase.				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.M398I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GAAGGCTCACCATGAATTCAC	0.443000													24	63					0	0	0.003330	0	0
ZNF208	7757	broad.mit.edu	37	19	22154744	22154744	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:22154744C>A	ENST00000397126.4	-	4	3240	c.3092G>T	c.(3091-3093)tGt>tTt	p.C1031F	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.C903F(2)|p.C1031F(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACATTCTTCACATTTGTAGGG	0.418000													35	73					4.34311e-12	6.99278e-12	0.003271	1	0
KCTD15	79047	broad.mit.edu	37	19	34302440	34302440	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:34302440C>G	ENST00000284006.5	+	6	928	c.676C>G	c.(676-678)Cgg>Ggg	p.R226G	KCTD15_ENST00000589786.1_Missense_Mutation_p.R226G|KCTD15_ENST00000588881.1_Missense_Mutation_p.R226G|KCTD15_ENST00000430256.2_Missense_Mutation_p.R226G	NM_001129994.1|NM_001129995.1|NM_024076.2	NP_001123466.1|NP_001123467.1|NP_076981.2	Q96SI1	KCD15_HUMAN	potassium channel tetramerization domain containing 15	226						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R226G(1)		endometrium(1)|lung(2)|pancreas(1)|urinary_tract(1)	5	Esophageal squamous(110;0.162)					TGGCTACTGCCGGCTCAACTC	0.697000													17	20					0	0	0.004007	0	0
PLA2G3	50487	broad.mit.edu	37	22	31533819	31533819	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:31533819G>C	ENST00000215885.3	-	4	1195	c.943C>G	c.(943-945)Cag>Gag	p.Q315E		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	315					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	p.Q315E(2)		large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GACCCTTTCTGATGTGGTGGC	0.672000													12	201					0	0	0.002450	0	0
NPFFR2	10886	broad.mit.edu	37	4	72897709	72897709	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:72897709C>A	ENST00000308744.6	+	1	189	c.91C>A	c.(91-93)Cgc>Agc	p.R31S	NPFFR2_ENST00000344413.5_Missense_Mutation_p.R31S	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	31					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	p.R31S(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GGGGAGGGAGCGCAGAGCACT	0.657000													14	34					1.15088e-07	1.60948e-07	0.004007	1	0
PLA2G12A	81579	broad.mit.edu	37	4	110638814	110638814	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:110638814T>C	ENST00000243501.5	-	3	608	c.341A>G	c.(340-342)tAt>tGt	p.Y114C	PLA2G12A_ENST00000502283.1_Missense_Mutation_p.Y112C|PLA2G12A_ENST00000502772.1_5'UTR	NM_030821.4	NP_110448.2	Q9BZM1	PG12A_HUMAN	phospholipase A2, group XIIA	114					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			kidney(1)|lung(1)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000268)		ACAGGTCTCATAGCACCTGTC	0.433000													3	131					0	0	0.004672	0	0
DNAH9	1770	broad.mit.edu	37	17	11556077	11556077	+	Splice_Site	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:11556077G>C	ENST00000262442.3	+	14	2421		c.e14-1		DNAH9_ENST00000454412.2_Splice_Site	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.?(1)		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)		TTGGGGAACAGGCATTTGCGA	0.363000													16	60					0	0	0.007413	0	0
RIN1	9610	broad.mit.edu	37	11	66101539	66101539	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:66101539C>A	ENST00000311320.4	-	7	1568	c.1442G>T	c.(1441-1443)gGg>gTg	p.G481V	RIN1_ENST00000424433.2_Missense_Mutation_p.G376V|RIN1_ENST00000530056.1_Intron	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	481	Ras and 14-3-3 protein binding region.|VPS9.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding	p.G481V(1)		breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						CAGGTGGGACCCGAAGGCTCC	0.736000													5	8					8.12818e-05	0.000100244	0.001984	1	0
OR5AS1	219447	broad.mit.edu	37	11	55798679	55798679	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:55798679C>A	ENST00000313555.1	+	1	785	c.785C>A	c.(784-786)cCc>cAc	p.P262H		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P262H(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TACTTACAGCCCACCACTAGC	0.418000													26	93					4.47668e-21	8.24782e-21	0.003954	1	0
NRG2	9542	broad.mit.edu	37	5	139231342	139231342	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:139231342G>A	ENST00000541337.1	-	7	1650	c.1421C>T	c.(1420-1422)tCa>tTa	p.S474L	NRG2_ENST00000340391.3_Missense_Mutation_p.S337L|NRG2_ENST00000394770.1_3'UTR|NRG2_ENST00000289422.7_Missense_Mutation_p.S548L|NRG2_ENST00000545385.1_Missense_Mutation_p.S542L|NRG2_ENST00000289409.4_Missense_Mutation_p.S534L|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000358522.3_Missense_Mutation_p.S542L|NRG2_ENST00000361474.1_Missense_Mutation_p.S540L	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	540					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	p.S540L(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCACTGATGATAGCATGAT	0.632000													6	48					0	0	0.001984	0	0
FCRLA	84824	broad.mit.edu	37	1	161680550	161680550	+	Splice_Site	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:161680550C>T	ENST00000540926.1	+	3	391	c.97_splice	c.e3-1	p.A33_splice	FCRLA_ENST00000367950.1_Splice_Site_p.A4_splice|FCRLA_ENST00000367953.3_Splice_Site_p.A33_splice|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000236938.6_Splice_Site_p.A44_splice|FCRLA_ENST00000546024.1_Splice_Site_p.A44_splice|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000367959.2_Splice_Site_p.A50_splice|FCRLA_ENST00000367949.2_Splice_Site_p.A44_splice|FCRLA_ENST00000309691.6_Splice_Site_p.A27_splice|FCRLA_ENST00000349527.4_Splice_Site_p.A27_splice			Q7L513	FCRLA_HUMAN	Fc receptor-like A	27					cell differentiation	cytoplasm|extracellular region		p.A27V(1)|p.A50V(1)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CCCTCTTCAGCTGCCAGTTTT	0.527000													4	60					0	0	0.000602	0	0
PCDH11X	27328	broad.mit.edu	37	X	91131875	91131875	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:91131875G>T	ENST00000373094.1	+	2	1481	c.636G>T	c.(634-636)aaG>aaT	p.K212N	PCDH11X_ENST00000361655.2_Missense_Mutation_p.K212N|PCDH11X_ENST00000395337.2_Missense_Mutation_p.K212N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.K212N|PCDH11X_ENST00000504220.1_Missense_Mutation_p.K212N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.K212N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.K212N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.K212N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.K212N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	212	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.K212N(3)		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						GGGAAGAGAAGGATACCTACG	0.408000													36	36					4.32679e-17	7.69002e-17	0.006999	1	0
C9orf171	389799	broad.mit.edu	37	9	135447814	135447814	+	Missense_Mutation	SNP	C	C	G	rs141309620	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:135447814C>G	ENST00000343036.2	+	7	928	c.880C>G	c.(880-882)Cgc>Ggc	p.R294G	C9orf171_ENST00000393216.2_Missense_Mutation_p.R258G	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	294								p.R294G(1)		large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GGAGGCCGATCGCCAGAGAGC	0.627000													4	64					0	0	0.001168	0	0
RYR2	6262	broad.mit.edu	37	1	237777418	237777418	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:237777418G>C	ENST00000366574.2	+	37	5307	c.4990G>C	c.(4990-4992)Gtc>Ctc	p.V1664L	RYR2_ENST00000360064.6_Missense_Mutation_p.V1662L|RYR2_ENST00000542537.1_Missense_Mutation_p.V1648L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1664	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.V1662L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTACTCAGCCGTCTGTGCTCT	0.517000													29	51					0	0	0.001786	0	0
CHL1	10752	broad.mit.edu	37	3	369946	369946	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:369946G>T	ENST00000256509.2	+	5	936	c.294G>T	c.(292-294)ggG>ggT	p.G98G	CHL1_ENST00000397491.2_Silent_p.G98G	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	98	Ig-like C2-type 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.G98G(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAAACGAGGGGCACATATCTC	0.393000													10	116					1.58986e-06	2.1318e-06	0.008291	1	0
ADARB2	105	broad.mit.edu	37	10	1229175	1229175	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:1229175C>T	ENST00000381312.1	-	10	2503	c.2178G>A	c.(2176-2178)gtG>gtA	p.V726V	ADARB2_ENST00000381305.1_Silent_p.V128V|ADARB2_ENST00000381310.3_Silent_p.V235V	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	726	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	p.V726V(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTGGTTTCCTCACCCAGGTGC	0.617000													7	21					0	0	0.001984	0	0
TTC31	64427	broad.mit.edu	37	2	74720290	74720290	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:74720290C>T	ENST00000442235.2	+	8	819	c.481C>T	c.(481-483)Caa>Taa	p.Q161*	TTC31_ENST00000410003.1_3'UTR|TTC31_ENST00000233623.5_Missense_Mutation_p.S502L			Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	499							binding	p.S502L(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						CAGGACCCTTCAAAGGGCTGG	0.587000													17	58					0	0	0.004007	0	0
MAN1A2	10905	broad.mit.edu	37	1	118045579	118045579	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:118045579G>T	ENST00000356554.3	+	12	2515	c.1780G>T	c.(1780-1782)Gct>Tct	p.A594S		NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	594					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	p.A594S(1)		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)		CTTTTTTCTTGCTGAAACATT	0.338000													5	32					0.000602214	0.0007161	0.000602	1	0
ITGB3	3690	broad.mit.edu	37	17	45376866	45376866	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:45376866C>A	ENST00000559488.1	+	11	1899	c.1883C>A	c.(1882-1884)cCc>cAc	p.P628H	ITGB3_ENST00000560629.1_Silent_p.P616P|ITGB3_ENST00000435993.2_Missense_Mutation_p.P581H	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	628	Cysteine-rich tandem repeats.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	p.P581Q(1)|p.P628Q(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	GAGAAGTGCCCCACCTGCCCA	0.607000													12	52					0.000978159	0.00115569	0.000978	1	0
RYR2	6262	broad.mit.edu	37	1	237550647	237550647	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:237550647G>T	ENST00000366574.2	+	9	960	c.643G>T	c.(643-645)Gcc>Tcc	p.A215S	RYR2_ENST00000360064.6_Missense_Mutation_p.A213S|RYR2_ENST00000542537.1_Missense_Mutation_p.A199S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	215	MIR 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.A213S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTGGAGCGTGGCCCCAATCAG	0.507000													46	104					1.32667e-27	2.56376e-27	0.003610	1	0
DMP1	1758	broad.mit.edu	37	4	88584284	88584284	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:88584284G>T	ENST00000339673.6	+	6	1453	c.1354G>T	c.(1354-1356)Gac>Tac	p.D452Y	RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.D436Y|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	452					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	p.D452Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		TTCTGAGGAAGACGACAGTGA	0.532000													12	55					3.07112e-06	4.04287e-06	0.000978	1	0
CST7	8530	broad.mit.edu	37	20	24940338	24940338	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:24940338G>A	ENST00000480798.1	+	4	704	c.428G>A	c.(427-429)cGt>cAt	p.R143H	CST7_ENST00000376835.2_Missense_Mutation_p.R165H	NM_003650.3	NP_003641.3	O76096	CYTF_HUMAN	cystatin F (leukocystatin)	143					immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						CCTGTTCTCCGTTGTCACTGA	0.587000													5	86					0	0	0.000602	0	0
WDR27	253769	broad.mit.edu	37	6	170033053	170033053	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:170033053C>A	ENST00000333572.6	-	21	2732	c.2213G>T	c.(2212-2214)tGc>tTc	p.C738F	WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000448612.1_Missense_Mutation_p.C738F|WDR27_ENST00000423258.1_Missense_Mutation_p.C611F			A2RRH5	WDR27_HUMAN	WD repeat domain 27	708								p.C738F(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		TTTATTTTGGCAGATTTGATG	0.448000													7	26					2.0095e-06	2.67503e-06	0.001984	1	0
SI	6476	broad.mit.edu	37	3	164709192	164709192	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:164709192C>T	ENST00000264382.3	-	44	5119	c.5057G>A	c.(5056-5058)cGt>cAt	p.R1686H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1686	Sucrase.				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	p.R1686H(1)|p.R1686L(1)		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)	GTGACCACCACGGACATGTAG	0.388000										HNSCC(35;0.089)			10	64					0	0	0.000978	0	0
ZFP69B	65243	broad.mit.edu	37	1	40929215	40929215	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:40929215G>T	ENST00000411995.2	+	6	1934	c.1559G>T	c.(1558-1560)aGa>aTa	p.R520I	ZFP69B_ENST00000361584.3_Missense_Mutation_p.R418I|ZFP69B_ENST00000484445.1_3'UTR	NM_023070.2	NP_075558.2			ZFP69 zinc finger protein B									p.R418I(1)|p.R520I(1)									TCCCTTATTAGACACTGCAAA	0.348000													6	54					2.7689e-08	4.0038e-08	0.001984	1	0
DNAH3	55567	broad.mit.edu	37	16	21073886	21073886	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:21073886C>T	ENST00000261383.3	-	25	3636	c.3637G>A	c.(3637-3639)Gac>Aac	p.D1213N	DNAH3_ENST00000415178.1_Missense_Mutation_p.D1213N	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1213	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.D1213N(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCCAGATTGTCTGTAAACTCA	0.463000													14	100					0	0	0.006122	0	0
FAM118B	79607	broad.mit.edu	37	11	126110847	126110847	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:126110847G>A	ENST00000533050.1	+	4	740	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	FAM118B_ENST00000360194.4_Missense_Mutation_p.E83K|FAM118B_ENST00000525728.1_3'UTR	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	83								p.E83K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		TGATCTTTTAGAAGATGAGGA	0.463000													26	229					0	0	0.003954	0	0
ZNF728	388523	broad.mit.edu	37	19	23159339	23159339	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:23159339C>A	ENST00000594710.1	-	4	945	c.800G>T	c.(799-801)cGg>cTg	p.R267L		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		GCTTGAGGACCGGGTGAAGGC	0.413000													14	32					1.49906e-05	1.90978e-05	0.002450	1	0
TMEM211	255349	broad.mit.edu	37	22	25334188	25334188	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:25334188A>G	ENST00000407886.1	-	3	307	c.55T>C	c.(55-57)Tgg>Cgg	p.W19R	TMEM211_ENST00000423535.1_Missense_Mutation_p.W90R|TMEM211_ENST00000382744.1_Missense_Mutation_p.W19R			Q6ICI0	TM211_HUMAN	transmembrane protein 211	90						integral to membrane		p.W19R(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GCCACAGCCCAAGACAGGAGG	0.552000													17	62					0	0	0.007413	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904298	73904298	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:73904298A>G	ENST00000342056.2	+	15	2415	c.2017A>G	c.(2017-2019)Aca>Gca	p.T673A	KCNQ5_ENST00000414165.2_Missense_Mutation_p.T544A|KCNQ5_ENST00000355194.4_Missense_Mutation_p.T654A|KCNQ5_ENST00000355635.3_Missense_Mutation_p.T655A|KCNQ5_ENST00000402622.2_Missense_Mutation_p.T664A|KCNQ5_ENST00000370398.1_Missense_Mutation_p.T654A|KCNQ5_ENST00000403813.2_Missense_Mutation_p.T645A	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	654					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.T654A(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		ATGTGAACAGACATCTGACTA	0.493000													8	113					0	0	0.004482	0	0
CRNN	49860	broad.mit.edu	37	1	152382339	152382339	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:152382339C>A	ENST00000271835.3	-	3	1281	c.1219G>T	c.(1219-1221)Ggg>Tgg	p.G407W	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	407					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	p.G407W(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCTTGCCCCAGTCTGGGCC	0.607000													54	69					1.83081e-24	3.46538e-24	0.003610	1	0
MAGEC1	9947	broad.mit.edu	37	X	140995906	140995906	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:140995906T>A	ENST00000285879.4	+	4	3002	c.2716T>A	c.(2716-2718)Tat>Aat	p.Y906N	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	906							protein binding	p.Y906N(1)		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)					CTTGTTCACTTATACACTGGA	0.468000										HNSCC(15;0.026)			35	163					0	0	0.003755	0	0
WNT9A	7483	broad.mit.edu	37	1	228109636	228109636	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:228109636C>A	ENST00000272164.5	-	4	691	c.681G>T	c.(679-681)cgG>cgT	p.R227R	WNT9A_ENST00000497852.1_Intron	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	227					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	p.R227R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				GCCAGCAGGTCCGCACCGTGC	0.622000													30	63					5.6714e-07	7.75497e-07	0.002096	1	0
MCHR2	84539	broad.mit.edu	37	6	100395638	100395638	+	Splice_Site	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:100395638C>T	ENST00000281806.2	-	3	706	c.392_splice	c.e3+1	p.R131_splice	MCHR2_ENST00000369212.1_Splice_Site_p.R131_splice|MCHR2_ENST00000445970.1_Splice_Site_p.R131_splice	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	131						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R131K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTTCACTTACCTGTCCACACT	0.443000													34	186					0	0	0.003271	0	0
ZFHX4	79776	broad.mit.edu	37	8	77690640	77690640	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:77690640T>A	ENST00000521891.2	+	4	3738	c.3290T>A	c.(3289-3291)aTc>aAc	p.I1097N	ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000518282.1_Missense_Mutation_p.I1071N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.I1071N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.I1071N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1071						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I1097N(1)		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)			CTCAGTGAGATCTTTTTTGTT	0.537000										HNSCC(33;0.089)			15	131					0	0	0.004990	0	0
JUP	3728	broad.mit.edu	37	17	39919432	39919432	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:39919432C>A	ENST00000393931.3	-	8	1418	c.1300G>T	c.(1300-1302)Ggt>Tgt	p.G434C	JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.G434C|JUP_ENST00000310706.5_Missense_Mutation_p.G434C	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	434					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	p.G434C(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GCCTCCACACCGCTGTTCTGT	0.602000													27	50					2.44723e-14	4.15379e-14	0.004656	1	0
HLA-DPB1	3115	broad.mit.edu	37	6	33052926	33052926	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:33052926G>T	ENST00000418931.2	+	3	680	c.564G>T	c.(562-564)ctG>ctT	p.L188L		NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	188	Beta-2.|Ig-like C1-type.				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		p.L188L(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						TGGTGATGCTGGAAATGACCC	0.562000													54	75					1.0442e-30	2.05863e-30	0.003610	1	0
SLC6A5	9152	broad.mit.edu	37	11	20636271	20636271	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:20636271G>T	ENST00000525748.1	+	6	1305	c.1032G>T	c.(1030-1032)tcG>tcT	p.S344S		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	344					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.S344S(1)		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)	TCAAGAACTCGACTTTCTGCA	0.408000													34	82					1.62565e-12	2.64307e-12	0.002445	1	0
ZFYVE28	57732	broad.mit.edu	37	4	2306871	2306871	+	Missense_Mutation	SNP	C	C	T	rs73203327	by1000genomes	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:2306871C>T	ENST00000290974.2	-	8	1535	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H	ZFYVE28_ENST00000515312.1_Missense_Mutation_p.R329H|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.R369H|RP11-478C1.7_ENST00000510632.1_RNA	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	399					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	p.R399H(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GAAGAACACGCGCTCCTCCTC	0.697000													17	36					0	0	0.004007	0	0
CYP4A11	1579	broad.mit.edu	37	1	47400232	47400232	+	Splice_Site	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:47400232C>G	ENST00000310638.4	-	7	822		c.e7-1		CYP4A11_ENST00000475477.1_Splice_Site|CYP4A11_ENST00000457840.2_Splice_Site|CYP4A11_ENST00000371904.4_Splice_Site_p.D265_splice|CYP4A11_ENST00000371905.1_Splice_Site	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11						long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	p.?(1)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	ATCACTTGGTCTGTACCAGAA	0.542000													3	59					0	0	0.000248	0	0
UBXN2A	165324	broad.mit.edu	37	2	24205850	24205850	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:24205850G>T	ENST00000309033.4	+	5	616	c.372G>T	c.(370-372)ttG>ttT	p.L124F	UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000404924.1_Missense_Mutation_p.L124F|UBXN2A_ENST00000535786.1_Missense_Mutation_p.L124F	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	124	SEP.							p.L124F(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						AAATATGTTTGTCTACGAAGC	0.373000													10	67					0.00621372	0.00714814	0.006214	1	0
HTR5A	3361	broad.mit.edu	37	7	154876017	154876017	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:154876017G>T	ENST00000287907.2	+	2	1470	c.894G>T	c.(892-894)tgG>tgT	p.W298C	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	298						integral to plasma membrane	serotonin receptor activity	p.W298C(2)|p.W298*(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TGCTCTGCTGGATCCCCTTCT	0.607000													38	132					3.21399e-22	5.9812e-22	0.004878	1	0
EPHB1	2047	broad.mit.edu	37	3	134670882	134670882	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:134670882G>T	ENST00000398015.3	+	3	1163	c.793G>T	c.(793-795)Gtg>Ttg	p.V265L	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	265	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.V265L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGAGAACAGCGTGGCATGCAA	0.552000													32	135					2.68265e-12	4.3504e-12	0.002836	1	0
SPATA31A3	727830	broad.mit.edu	37	9	40702747	40702747	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:40702747C>A	ENST00000356699.5	+	4	433	c.404C>A	c.(403-405)tCc>tAc	p.S135Y	SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1			SPATA31 subfamily A, member 3									p.S135Y(2)									GATGGAGCCTCCCAGTCCTCT	0.597000													46	423					1.14385e-22	2.13588e-22	0.003610	1	0
L1CAM	3897	broad.mit.edu	37	X	153137770	153137770	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:153137770C>A	ENST00000370060.1	-	5	426	c.237G>T	c.(235-237)aaG>aaT	p.K79N	L1CAM_ENST00000361981.3_Missense_Mutation_p.K74N|L1CAM_ENST00000361699.4_Missense_Mutation_p.K79N|L1CAM_ENST00000370057.3_Missense_Mutation_p.K79N|L1CAM_ENST00000370055.1_Missense_Mutation_p.K74N|L1CAM_ENST00000543994.1_Missense_Mutation_p.K81N|L1CAM_ENST00000538883.1_Missense_Mutation_p.K81N	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	79	Ig-like C2-type 1.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.K79N(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGCTCTTCCTTGGGTTTGA	0.607000													9	12					0.00621372	0.00714814	0.006214	1	0
USH2A	7399	broad.mit.edu	37	1	215953232	215953232	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:215953232C>A	ENST00000366943.2	-	55	11278	c.10892G>T	c.(10891-10893)gGt>gTt	p.G3631V	USH2A_ENST00000307340.3_Missense_Mutation_p.G3631V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3631	Fibronectin type-III 21.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.G3631V(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGGATGAGACCTTTCCCAAC	0.483000										HNSCC(13;0.011)			36	99					4.32679e-17	7.69002e-17	0.006999	1	0
HDC	3067	broad.mit.edu	37	15	50534698	50534698	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:50534698C>A	ENST00000267845.3	-	12	2150	c.1748G>T	c.(1747-1749)cGc>cTc	p.R583L	HDC_ENST00000543581.1_Missense_Mutation_p.R550L	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	583					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.R583L(1)		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)	ACTGAGGGAGCGCACCGTCTT	0.542000													67	173					2.84776e-26	5.45875e-26	0.003610	1	0
MYH6	4624	broad.mit.edu	37	14	23867979	23867979	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:23867979G>A	ENST00000405093.3	-	15	1919	c.1849C>T	c.(1849-1851)Ctc>Ttc	p.L617F	MYH6_ENST00000356287.3_Missense_Mutation_p.L617F	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	617	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.L617F(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GTGGCCATGAGCTTGAGGGAG	0.577000													6	109					0	0	0.001984	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33658332	33658332	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:33658332C>A	ENST00000504830.1	-	7	1482	c.1147G>T	c.(1147-1149)Gga>Tga	p.G383*	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.G383*	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	383	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G383*(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGAGGGAGTCCCGAATCTTCA	0.507000										HNSCC(64;0.19)			43	148					5.59293e-11	8.79191e-11	0.006999	1	0
PFKFB4	5210	broad.mit.edu	37	3	48563006	48563006	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:48563006T>C	ENST00000232375.3	-	10	1196	c.1084A>G	c.(1084-1086)Aaa>Gaa	p.K362E	PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000416568.1_Missense_Mutation_p.K355E|PFKFB4_ENST00000541519.1_Missense_Mutation_p.K328E|PFKFB4_ENST00000536104.1_Missense_Mutation_p.K351E|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000383734.2_Intron	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	362	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	p.K362E(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ACCTCCCCTTTAGGGTACCGG	0.597000													3	24					0	0	0.004672	0	0
GPR149	344758	broad.mit.edu	37	3	154147120	154147120	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:154147120G>A	ENST00000389740.2	-	1	384	c.285C>T	c.(283-285)aaC>aaT	p.N95N		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	95						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.N95N(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CGGGGACCTCGTTTGGCCACT	0.498000													29	102					0	0	0.001786	0	0
TLR10	81793	broad.mit.edu	37	4	38774993	38774993	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:38774993G>T	ENST00000308973.4	-	4	2824	c.2219C>A	c.(2218-2220)aCc>aAc	p.T740N	TLR10_ENST00000506111.1_Missense_Mutation_p.T740N|TLR10_ENST00000508334.1_Missense_Mutation_p.T740N|TLR10_ENST00000361424.2_Missense_Mutation_p.T740N	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	740	TIR.				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	p.T740N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						ATGATACCTGGTGGGAATGCA	0.403000													57	80					3.07002e-29	5.98852e-29	0.003610	1	0
KLHL38	340359	broad.mit.edu	37	8	124664765	124664765	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:124664765G>T	ENST00000325995.7	-	1	425	c.402C>A	c.(400-402)agC>agA	p.S134R	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	134								p.S134R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CCAGGCAGTTGCTGGGGGCCA	0.582000													25	34					8.24728e-16	1.43808e-15	0.004656	1	0
ACTRT2	140625	broad.mit.edu	37	1	2938660	2938660	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:2938660A>G	ENST00000378404.2	+	1	615	c.410A>G	c.(409-411)tAc>tGc	p.Y137C		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	137						cytoplasm|cytoskeleton		p.Y137C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CCCGCTTTCTACCTGTCGGAC	0.627000													10	43					0	0	0.006214	0	0
PLXNA3	55558	broad.mit.edu	37	X	153688868	153688868	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:153688868C>T	ENST00000369682.3	+	2	520	c.345C>T	c.(343-345)atC>atT	p.I115I		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	115	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.I115I(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCGGCAGCATCTGGCAGGGCA	0.672000													11	28					0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179602947	179602947	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:179602947T>A	ENST00000589042.1	-	49	14457	c.14233A>T	c.(14233-14235)Aag>Tag	p.K4745*	TTN_ENST00000359218.5_Nonsense_Mutation_p.K4507*|TTN_ENST00000342175.6_Nonsense_Mutation_p.K4574*|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.K4428*|TTN_ENST00000342992.6_Nonsense_Mutation_p.K3501*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.K4382*|TTN-AS1_ENST00000590773.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4428	Ig-like 27.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K3501*(2)|p.K4574*(1)|p.K4382*(1)|p.K4507*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAGAACACTTGTCACTCTCA	0.468000													14	33					0	0	0.003163	0	0
SP2	6668	broad.mit.edu	37	17	45993740	45993740	+	Silent	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:45993740G>C	ENST00000376741.4	+	3	440	c.303G>C	c.(301-303)ctG>ctC	p.L101L	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	101					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding	p.L101L(1)		endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						GGTCACAACTGAGCGCCTCCT	0.522000													15	124					0	0	0.002450	0	0
FLG	2312	broad.mit.edu	37	1	152277576	152277576	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:152277576G>A	ENST00000368799.1	-	3	9821	c.9786C>T	c.(9784-9786)gcC>gcT	p.A3262A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3262	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.A3262A(1)		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)			GCCCGTGACCGGCTCTGTCTT	0.582000									Ichthyosis				23	625					0	0	0.002299	0	0
TEP1	7011	broad.mit.edu	37	14	20845891	20845891	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:20845891G>A	ENST00000262715.5	-	40	5783	c.5743C>T	c.(5743-5745)Ctg>Ttg	p.L1915L	TEP1_ENST00000556935.1_Silent_p.L1807L|TEP1_ENST00000545983.1_Silent_p.L253L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1915					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.L1915L(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGCCGACCCAGAGACCCTGAC	0.597000													36	47					0	0	0.003755	0	0
FKBP6	8468	broad.mit.edu	37	7	72743399	72743399	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:72743399C>A	ENST00000252037.4	+	3	281	c.212C>A	c.(211-213)cCc>cAc	p.P71H	FKBP6_ENST00000413573.2_Intron|FKBP6_ENST00000431982.2_Missense_Mutation_p.P66H	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	71	PPIase FKBP-type.				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.P71H(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				ATGGACAGACCCTTCGATTCT	0.438000													46	172					6.31075e-24	1.19044e-23	0.003610	1	0
TRMT10A	93587	broad.mit.edu	37	4	100470252	100470252	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:100470252G>C	ENST00000273962.3	-	8	1325	c.1013C>G	c.(1012-1014)cCa>cGa	p.P338R	TRMT10A_ENST00000394876.2_Missense_Mutation_p.P338R|TRMT10A_ENST00000394877.3_Missense_Mutation_p.P338R	NM_152292.4	NP_689505.1			tRNA methyltransferase 10 homolog A (S. cerevisiae)									p.P338R(1)									ACATTAGTGTGGCAGAGAGTT	0.348000													20	100					0	0	0.001523	0	0
DGKG	1608	broad.mit.edu	37	3	186002472	186002472	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:186002472C>T	ENST00000265022.3	-	7	1110	c.571G>A	c.(571-573)Gag>Aag	p.E191K	DGKG_ENST00000344484.4_Missense_Mutation_p.E191K|DGKG_ENST00000382164.4_Missense_Mutation_p.E191K|DGKG_ENST00000544847.1_Missense_Mutation_p.E191K	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	191	EF-hand 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	p.E191K(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	AGACCGTTCTCATCTGAATCA	0.502000													30	98					0	0	0.002445	0	0
CES2	8824	broad.mit.edu	37	16	66975441	66975441	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:66975441G>T	ENST00000317091.4	+	7	2124	c.1140G>T	c.(1138-1140)ggG>ggT	p.G380G	CES2_ENST00000417689.1_Silent_p.G380G	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	316					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.G380G(1)		breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		TGGTGGATGGGGTCTTCCTGC	0.567000													8	52					0.000274275	0.000330884	0.004482	1	0
MYH4	4622	broad.mit.edu	37	17	10352302	10352302	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:10352302C>A	ENST00000255381.2	-	31	4354	c.4244G>T	c.(4243-4245)tGt>tTt	p.C1415F	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1415					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.C1415F(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AAGAGAAGCACATTTGGAATT	0.453000													13	55					0.000151284	0.000185337	0.001855	1	0
TTN	7273	broad.mit.edu	37	2	179664422	179664422	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:179664422T>C	ENST00000589042.1	-	6	930	c.706A>G	c.(706-708)Aca>Gca	p.T236A	TTN_ENST00000360870.5_Missense_Mutation_p.T236A|TTN_ENST00000359218.5_Missense_Mutation_p.T236A|TTN_ENST00000342175.6_Missense_Mutation_p.T236A|TTN_ENST00000591111.1_Missense_Mutation_p.T236A|TTN_ENST00000342992.6_Missense_Mutation_p.T236A|TTN_ENST00000460472.2_Missense_Mutation_p.T236A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	236							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T236A(6)		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)			ATCTCAACTGTTGCAATTGAT	0.493000													14	67					0	0	0.003163	0	0
GRAP2	9402	broad.mit.edu	37	22	40367056	40367056	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:40367056C>G	ENST00000344138.4	+	8	1224	c.961C>G	c.(961-963)Cct>Gct	p.P321A	GRAP2_ENST00000399090.2_Missense_Mutation_p.P208A|GRAP2_ENST00000543252.1_Missense_Mutation_p.P269A|GRAP2_ENST00000540310.1_Missense_Mutation_p.P255A|GRAP2_ENST00000544756.1_Missense_Mutation_p.P249A|GRAP2_ENST00000407075.3_Missense_Mutation_p.P321A	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	321	SH3 2.				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	p.P321A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GGGCCTCTTCCCTGCCAACTA	0.587000													14	93					0	0	0.004007	0	0
NELL1	4745	broad.mit.edu	37	11	21250989	21250989	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:21250989C>A	ENST00000298925.5	+	15	1775	c.1622C>A	c.(1621-1623)aCc>aAc	p.T541N	NELL1_ENST00000325319.5_Missense_Mutation_p.T456N|NELL1_ENST00000532434.1_Missense_Mutation_p.T513N|NELL1_ENST00000357134.5_Missense_Mutation_p.T513N			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	513	EGF-like 4.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.T513N(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GGGAACGGGACCATCTGCAGA	0.577000													11	11					3.07112e-06	4.04287e-06	0.000978	1	0
NRXN1	9378	broad.mit.edu	37	2	50463973	50463973	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:50463973C>A	ENST00000404971.1	-	19	4959	c.3620G>T	c.(3619-3621)cGa>cTa	p.R1207L	NRXN1_ENST00000405472.3_Missense_Mutation_p.R1159L|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1159L|NRXN1_ENST00000342183.5_Missense_Mutation_p.R132L|NRXN1_ENST00000401710.1_Missense_Mutation_p.R185L|NRXN1_ENST00000406316.2_Missense_Mutation_p.R1167L|NRXN1_ENST00000406859.3_Missense_Mutation_p.R1167L|NRXN1_ENST00000401669.2_Missense_Mutation_p.R1167L	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1167	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.R1167L(1)|p.R132L(1)|p.R1207L(1)|p.R1208L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACTGTCCACTCGCACCAATAC	0.423000													15	37					7.07596e-05	8.78541e-05	0.006122	1	0
ARMC2	84071	broad.mit.edu	37	6	109190162	109190162	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:109190162G>T	ENST00000392644.4	+	4	595	c.427G>T	c.(427-429)Gcc>Tcc	p.A143S	ARMC2_ENST00000368972.3_5'UTR	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	143							binding	p.A136S(1)		endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		CTCCCAGCGGGCCCTTCTGCC	0.542000													23	60					2.44723e-14	4.15379e-14	0.004656	1	0
CR2	1380	broad.mit.edu	37	1	207642062	207642062	+	Splice_Site	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:207642062T>A	ENST00000367057.3	+	3	823		c.e3+2		CR2_ENST00000367059.3_Splice_Site|CR2_ENST00000367058.3_Splice_Site|CR2_ENST00000458541.2_Splice_Site|CR2_ENST00000485707.1_Splice_Site	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2						complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CATGTGAAGGTACCCTAAATT	0.398000													6	165					0	0	0.001168	0	0
ILDR2	387597	broad.mit.edu	37	1	166892009	166892009	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:166892009C>A	ENST00000271417.3	-	8	1087	c.1032G>T	c.(1030-1032)gaG>gaT	p.E344D	ILDR2_ENST00000529071.1_Missense_Mutation_p.E325D|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000526687.1_Missense_Mutation_p.E236D|ILDR2_ENST00000525740.1_Missense_Mutation_p.E217D|ILDR2_ENST00000469934.2_Missense_Mutation_p.E344D|ILDR2_ENST00000528703.1_Missense_Mutation_p.E285D	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	344						integral to membrane		p.E344D(1)		NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						TGCTGTCCTCCTCATGTAGGG	0.468000													65	115					3.61411e-23	6.77901e-23	0.003610	1	0
METTL25	84190	broad.mit.edu	37	12	82824732	82824732	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:82824732G>T	ENST00000248306.3	+	6	1409	c.1340G>T	c.(1339-1341)tGc>tTc	p.C447F	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2			methyltransferase like 25									p.C447F(1)									GAGAGATGGTGCTGTGGTCGT	0.368000													7	124					0.00307968	0.00358504	0.003080	1	0
CYP4F12	66002	broad.mit.edu	37	19	15784338	15784338	+	Splice_Site	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:15784338G>A	ENST00000550308.1	+	2	379		c.e2-1		CYP4F12_ENST00000324632.9_5'UTR	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)					CTGCCCTGCAGGATGTCGCTG	0.672000													5	58					0	0	0.000602	0	0
MATN2	4147	broad.mit.edu	37	8	99042728	99042728	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:99042728G>C	ENST00000254898.5	+	15	2626	c.2395G>C	c.(2395-2397)Gag>Cag	p.E799Q	MATN2_ENST00000522025.2_Missense_Mutation_p.E515Q|MATN2_ENST00000524308.1_Missense_Mutation_p.E758Q|MATN2_ENST00000521689.1_Missense_Mutation_p.E799Q|MATN2_ENST00000520016.1_Missense_Mutation_p.E799Q|RPL30_ENST00000518164.1_Intron	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	799	VWFA 2.					proteinaceous extracellular matrix	calcium ion binding	p.E799Q(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			AAAAGCCATTGAGGAGGAACT	0.438000													11	24					0	0	0.008291	0	0
FYB	2533	broad.mit.edu	37	5	39202684	39202684	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:39202684G>T	ENST00000351578.6	-	2	569	c.379C>A	c.(379-381)Cct>Act	p.P127T	FYB_ENST00000505428.1_Missense_Mutation_p.P127T|FYB_ENST00000540520.1_Missense_Mutation_p.P137T|FYB_ENST00000512982.1_Missense_Mutation_p.P127T|FYB_ENST00000515010.1_Missense_Mutation_p.P127T	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	127					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	p.P127T(3)|p.P137T(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GGAAATGTAGGTTTGGAATCT	0.522000													12	163					9.31168e-06	1.20667e-05	0.001855	1	0
HECW1	23072	broad.mit.edu	37	7	43484130	43484130	+	Silent	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:43484130C>G	ENST00000395891.1	+	11	1964	c.1359C>G	c.(1357-1359)ccC>ccG	p.P453P	HECW1_ENST00000453890.1_Silent_p.P453P	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	453					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.P432P(1)|p.P453P(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGCCTGCCCCCAGTGCAGAAG	0.647000													7	13					0	0	0.003080	0	0
BCS1L	617	broad.mit.edu	37	2	219527605	219527605	+	Splice_Site	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:219527605G>A	ENST00000431802.1	+	7	1588		c.e7-1		BCS1L_ENST00000392109.1_Splice_Site|BCS1L_ENST00000412366.1_Splice_Site|BCS1L_ENST00000392110.2_Splice_Site|BCS1L_ENST00000465706.1_Splice_Site|BCS1L_ENST00000439945.1_Splice_Site|BCS1L_ENST00000359273.3_Splice_Site|BCS1L_ENST00000392111.2_Splice_Site			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like						mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding	p.?(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTTCCTCCAGACCCAGTAAA	0.517000													15	176					0	0	0.004007	0	0
ARL13B	200894	broad.mit.edu	37	3	93722539	93722539	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:93722539C>T	ENST00000394222.3	+	3	442	c.167C>T	c.(166-168)tCa>tTa	p.S56L	ARL13B_ENST00000535334.1_5'UTR|ARL13B_ENST00000471138.1_Missense_Mutation_p.S56L|ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000303097.7_Intron	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	56							GTP binding	p.S56L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						GTTGGATTTTCAAAAATTAAC	0.338000													8	79					0	0	0.003080	0	0
FAM47C	442444	broad.mit.edu	37	X	37028486	37028486	+	Missense_Mutation	SNP	C	C	A	rs142735792	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:37028486C>A	ENST00000358047.3	+	1	2055	c.2003C>A	c.(2002-2004)cCg>cAg	p.P668Q		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	668								p.P668Q(2)		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						AGTCTCCCCCCGGAGCCCCCC	0.642000													14	20					1.02788e-11	1.64382e-11	0.004990	1	0
SMYD1	150572	broad.mit.edu	37	2	88390656	88390656	+	Silent	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:88390656T>C	ENST00000419482.2	+	4	739	c.654T>C	c.(652-654)aaT>aaC	p.N218N	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Silent_p.N218N	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	218	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.N218N(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TATTTAACAATGGCAAGTGAG	0.512000													15	128					0	0	0.004007	0	0
CCDC136	64753	broad.mit.edu	37	7	128446346	128446346	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:128446346A>T	ENST00000297788.4	+	8	1512	c.1145A>T	c.(1144-1146)cAg>cTg	p.Q382L	CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	382						integral to membrane	protein binding	p.Q382L(2)|p.Q498L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GATACTAGCCAGGATGAGCAG	0.463000													6	9					0	0	0.001168	0	0
TMEM57	55219	broad.mit.edu	37	1	25824928	25824928	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:25824928G>C	ENST00000374343.4	+	11	2145	c.1966G>C	c.(1966-1968)Gcc>Ccc	p.A656P	TMEM57_ENST00000399763.3_Missense_Mutation_p.A298P|TMEM57_ENST00000399766.3_Missense_Mutation_p.A429P	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	656						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		p.A656P(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TGACCCCAATGCCTCTGTTTA	0.542000													28	80					0	0	0.008361	0	0
RTTN	25914	broad.mit.edu	37	18	67741202	67741202	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:67741202C>A	ENST00000255674.6	-	34	4879	c.4593G>T	c.(4591-4593)agG>agT	p.R1531S	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Missense_Mutation_p.R1531S	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1531							binding	p.R1531S(2)		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)				TAGATGGAGCCCTCCAAAACT	0.408000													23	37					1.64293e-13	2.73274e-13	0.003330	1	0
SDK1	221935	broad.mit.edu	37	7	4007027	4007027	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:4007027G>T	ENST00000404826.2	+	10	1646	c.1507G>T	c.(1507-1509)Gtg>Ttg	p.V503L	SDK1_ENST00000389531.3_Missense_Mutation_p.V503L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	503	Ig-like C2-type 5.				cell adhesion	integral to membrane		p.V503L(1)		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)		AAGGTGTGAGGTGTCCGGGGC	0.542000													14	82					3.27435e-08	4.706e-08	0.002450	1	0
PAPPA2	60676	broad.mit.edu	37	1	176668331	176668331	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:176668331A>G	ENST00000367662.3	+	8	4006	c.2842A>G	c.(2842-2844)Aca>Gca	p.T948A		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	948					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.T948A(1)		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						CCCCTGCCCCACAGAAGGCTG	0.612000													8	142					0	0	0.004482	0	0
TMEM237	65062	broad.mit.edu	37	2	202494490	202494490	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:202494490G>A	ENST00000409444.2	-	8	932	c.615C>T	c.(613-615)acC>acT	p.T205T	TMEM237_ENST00000409883.2_Silent_p.T213T|TMEM237_ENST00000466839.1_5'UTR	NM_152388.3	NP_689601.2	Q96Q45	TM237_HUMAN	transmembrane protein 237	237						integral to membrane	protein binding	p.T213T(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						CATCTCTGGTGGTCCAGGAAG	0.423000													46	66					0	0	0.003610	0	0
ELOVL7	79993	broad.mit.edu	37	5	60053392	60053392	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:60053392C>A	ENST00000505959.1	-	10	1067	c.541G>T	c.(541-543)Ggg>Tgg	p.G181W	ELOVL7_ENST00000425382.1_Missense_Mutation_p.G194W|ELOVL7_ENST00000438340.1_Missense_Mutation_p.G194W|ELOVL7_ENST00000508821.1_Missense_Mutation_p.G194W			A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	194					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	p.G194W(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				TAGGCTGGCCCCAATGCAGAA	0.363000													16	43					6.94344e-10	1.06526e-09	0.006122	1	0
C20orf26	26074	broad.mit.edu	37	20	20079314	20079314	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:20079314G>C	ENST00000245957.5	+	8	791	c.715G>C	c.(715-717)Gtt>Ctt	p.V239L	C20orf26_ENST00000377306.1_Missense_Mutation_p.V239L|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.V239L	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	239								p.V239L(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AGGCACAGCTGTTGGGTTCAT	0.453000													42	101					0	0	0.003214	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147336213	147336213	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:147336213C>T	ENST00000361727.3	+	13	2429	c.1913C>T	c.(1912-1914)aCc>aTc	p.T638I		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	638	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.T638I(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AAAGTGTGGACCATAGTGTCT	0.473000										HNSCC(39;0.1)			17	180					0	0	0.001523	0	0
SPATA31A3	727830	broad.mit.edu	37	9	40705716	40705716	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:40705716C>A	ENST00000356699.5	+	4	3402	c.3373C>A	c.(3373-3375)Ctt>Att	p.L1125I	RP11-395E19.5_ENST00000432614.1_lincRNA	NM_001083124.1	NP_001076593.1			SPATA31 subfamily A, member 3									p.L1125I(2)									TGAAGAAAGGCTTGAAGGATT	0.468000													51	392					2.12129e-23	3.99697e-23	0.003610	1	0
MYH2	4620	broad.mit.edu	37	17	10441144	10441144	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:10441144G>T	ENST00000245503.5	-	15	1809	c.1425C>A	c.(1423-1425)agC>agA	p.S475R	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.S475R|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.S475R	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	475	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	p.S475R(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCTGCTCCAGGCTGTTGAACT	0.368000													26	71					0.000117367	0.000144425	0.005443	1	0
KIRREL	55243	broad.mit.edu	37	1	158064101	158064101	+	Splice_Site	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:158064101A>G	ENST00000368172.1	+	10	1173		c.e10-1		KIRREL_ENST00000368173.3_Splice_Site|KIRREL_ENST00000360089.4_Splice_Site|KIRREL_ENST00000392272.2_Splice_Site|KIRREL_ENST00000416935.2_Splice_Site|KIRREL_ENST00000359209.6_Splice_Site			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)							integral to membrane		p.?(3)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GCTGCTCCACAGTCGTTTAAG	0.617000													4	23					0	0	0.000248	0	0
FKTN	2218	broad.mit.edu	37	9	108363572	108363572	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:108363572C>G	ENST00000223528.2	+	4	436	c.312C>G	c.(310-312)ttC>ttG	p.F104L	FKTN_ENST00000357998.5_Missense_Mutation_p.F104L|FKTN_ENST00000602661.1_Missense_Mutation_p.F104L|FKTN_ENST00000448551.2_Missense_Mutation_p.F104L|FKTN_ENST00000540160.1_Missense_Mutation_p.F104L	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	104					muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity	p.F104L(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						GCAAGTTTTTCTGTGTTCCAA	0.353000													6	72					0	0	0.001984	0	0
ZZEF1	23140	broad.mit.edu	37	17	4008083	4008083	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:4008083C>A	ENST00000381638.2	-	8	1541	c.1417G>T	c.(1417-1419)Gaa>Taa	p.E473*	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	473							calcium ion binding|zinc ion binding	p.E473*(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGAGTCAGTTCTACCTCTGGG	0.438000													9	55					0.00448238	0.00518158	0.004482	1	0
KIF2B	84643	broad.mit.edu	37	17	51901776	51901776	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:51901776G>C	ENST00000268919.4	+	1	1538	c.1382G>C	c.(1381-1383)aGc>aCc	p.S461T		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	461	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.S461T(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACCAAGGCCAGCCGGAAAAGG	0.488000													8	38					0	0	0.004482	0	0
TAS1R3	83756	broad.mit.edu	37	1	1268139	1268139	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:1268139T>A	ENST00000339381.5	+	3	1260	c.1228T>A	c.(1228-1230)Tgc>Agc	p.C410S		NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	410					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.C410S(1)		kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	CACTCTTCAGTGCAACGCCTC	0.642000													3	30					0	0	0.000248	0	0
TRPM6	140803	broad.mit.edu	37	9	77411735	77411735	+	Silent	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:77411735A>T	ENST00000451710.3	-	18	2550	c.2313T>A	c.(2311-2313)gtT>gtA	p.V771V	TRPM6_ENST00000360774.1_Silent_p.V771V|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Silent_p.V771V|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Silent_p.V766V|TRPM6_ENST00000361255.3_Silent_p.V766V			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	771					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.V771V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGGACTGGGGAACATGTGACA	0.368000													20	101					0	0	0.008871	0	0
UNC5D	137970	broad.mit.edu	37	8	35541233	35541233	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:35541233G>A	ENST00000287272.2	+	5	759	c.739G>A	c.(739-741)Gtt>Att	p.V247I	UNC5D_ENST00000420357.1_Missense_Mutation_p.V247I|UNC5D_ENST00000404895.2_Missense_Mutation_p.V247I|UNC5D_ENST00000416672.1_Missense_Mutation_p.V247I|UNC5D_ENST00000453357.2_Missense_Mutation_p.V242I			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	303					apoptosis|axon guidance	integral to membrane	receptor activity	p.V242I(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GTCGGCCACTGTTGTGGTCTA	0.502000													6	24					0	0	0.001984	0	0
GDA	9615	broad.mit.edu	37	9	74840612	74840612	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:74840612G>T	ENST00000358399.3	+	8	827	c.734G>T	c.(733-735)cGt>cTt	p.R245L	GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376986.1_Missense_Mutation_p.R167L|GDA_ENST00000376989.3_Missense_Mutation_p.R184L|GDA_ENST00000238018.4_Missense_Mutation_p.R245L|GDA_ENST00000545168.1_Missense_Mutation_p.R171L	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	245					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	p.R245L(2)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		AGTGAAAATCGTGATGAAGTT	0.279000													19	135					2.89027e-11	4.56938e-11	0.002299	1	0
KIR3DL1	3811	broad.mit.edu	37	19	55331374	55331374	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:55331374G>T	ENST00000391728.4	+	4	595	c.562G>T	c.(562-564)Gcc>Tcc	p.A188S	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.A188S|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.A188S|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.A188S|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.A188S|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.A93S	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1									p.A188S(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CATGATGCTTGCCCTTGCAGG	0.552000													119	273					7.7863e-71	1.57051e-70	0.003610	1	0
SFTPA1	653509	broad.mit.edu	37	10	81371568	81371568	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:81371568C>G	ENST00000419470.2	+	3	108	c.32C>G	c.(31-33)aCt>aGt	p.T11S	SFTPA1_ENST00000428376.2_5'UTR|SFTPA1_ENST00000372308.3_5'UTR|SFTPA1_ENST00000398636.3_5'UTR|SFTPA1_ENST00000372313.5_Intron			Q8IWL2	SFTA1_HUMAN	surfactant protein A1	0					cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding	p.T11S(1)		endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			GGAGCAGCGACTGGACCCAGA	0.612000													23	98					0	0	0.002299	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96652499	96652499	+	Splice_Site	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:96652499C>T	ENST00000456556.1	-	3	570	c.486_splice	c.e3+1	p.E162_splice						ankyrin repeat domain 36C									p.E162E(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TGACCTATACCTCGCTGCATT	0.338000													14	20					0	0	0.001855	0	0
EPHA7	2045	broad.mit.edu	37	6	93956568	93956568	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:93956568G>C	ENST00000369303.4	-	15	2852	c.2668C>G	c.(2668-2670)Cta>Gta	p.L890V		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	890	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.L890V(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATTTTGTCTAGAATTCCAACT	0.438000													21	103					0	0	0.001882	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48600956	48600956	+	Splice_Site	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:48600956A>T	ENST00000323776.5	+	12	1738		c.e12-1		MYCBPAP_ENST00000436259.2_Splice_Site	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein						cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	p.?(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TGTCCCTCTCAGGTGTGATTC	0.507000													27	54					0	0	0.006320	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121608163	121608163	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:121608163A>C	ENST00000393386.2	+	3	694	c.283A>C	c.(283-285)Att>Ctt	p.I95L	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.I95L	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	95	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.I95L(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AAACACATTCATTCATAACAC	0.303000													14	111					0	0	0.004007	0	0
TBX5	6910	broad.mit.edu	37	12	114823367	114823367	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:114823367C>A	ENST00000310346.4	-	7	1335	c.669G>T	c.(667-669)acG>acT	p.T223T	TBX5_ENST00000526441.1_Silent_p.T223T|TBX5_ENST00000349716.5_Silent_p.T173T|TBX5_ENST00000405440.2_Silent_p.T223T	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	223					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.T223T(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TCTTTAATTGCGTGATCTGAA	0.418000													7	42					1.12685e-05	1.45231e-05	0.004482	1	0
PLXNB2	23654	broad.mit.edu	37	22	50719226	50719226	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:50719226G>A	ENST00000449103.1	-	24	4080	c.3940C>T	c.(3940-3942)Cag>Tag	p.Q1314*	PLXNB2_ENST00000359337.4_Nonsense_Mutation_p.Q1314*			O15031	PLXB2_HUMAN	plexin B2	1314					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	p.Q1357*(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TAGAGGGCCTGCTCCACCACC	0.657000													5	31					0	0	0.001168	0	0
FAM161A	84140	broad.mit.edu	37	2	62066780	62066780	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:62066780C>A	ENST00000404929.1	-	3	1370	c.1359G>T	c.(1357-1359)gtG>gtT	p.V453V	FAM161A_ENST00000405894.3_Silent_p.V453V	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	453					response to stimulus|visual perception	centrosome		p.V453V(2)|p.V344V(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATGGTTTACACACTGTTAAGA	0.383000													17	56					4.7546e-09	7.08496e-09	0.004007	1	0
CD248	57124	broad.mit.edu	37	11	66084211	66084211	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:66084211C>A	ENST00000311330.3	-	1	304	c.288G>T	c.(286-288)ctG>ctT	p.L96L	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	96	C-type lectin.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	p.L96L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GTGGGCGCTGCAGCTGGCATT	0.736000													10	35					1.76689e-08	2.56385e-08	0.006214	1	0
PRKCQ	5588	broad.mit.edu	37	10	6498661	6498661	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:6498661C>A	ENST00000263125.5	-	15	1721	c.1622G>T	c.(1621-1623)gGg>gTg	p.G541V	PRKCQ_ENST00000397176.2_Missense_Mutation_p.G541V|PRKCQ_ENST00000539722.1_Missense_Mutation_p.G416V	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	541	Protein kinase.				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	p.G541V(1)		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						GTCAGGTGTCCCACAGAAGGT	0.498000													14	57					1.05317e-09	1.60097e-09	0.002450	1	0
SIGLEC1	6614	broad.mit.edu	37	20	3673254	3673254	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:3673254G>T	ENST00000344754.4	-	15	3943	c.3944C>A	c.(3943-3945)aCg>aAg	p.T1315K	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.T1315K	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1315	Ig-like C2-type 13.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.T1315K(1)		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						ATGAGCCCGCGTGGCCACCAG	0.657000													11	40					1.08611e-07	1.52147e-07	0.000978	1	0
AXDND1	126859	broad.mit.edu	37	1	179339140	179339140	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:179339140T>C	ENST00000367618.3	+	4	688	c.301T>C	c.(301-303)Tgg>Cgg	p.W101R	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.W101R	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	101								p.W101R(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AGACCATGTCTGGCATCACCC	0.423000													6	43					0	0	0.001168	0	0
MUC16	94025	broad.mit.edu	37	19	9082767	9082767	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:9082767G>T	ENST00000397910.4	-	1	9251	c.9048C>A	c.(9046-9048)ctC>ctA	p.L3016L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3017	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L3016L(2)		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						CTGTGCTGAAGAGAGTTGTGA	0.493000													24	94					1.64293e-13	2.73274e-13	0.003330	1	0
DACH1	1602	broad.mit.edu	37	13	72133996	72133996	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:72133996A>T	ENST00000305425.4	-	5	1819	c.1397T>A	c.(1396-1398)gTg>gAg	p.V466E	DACH1_ENST00000359684.2_Missense_Mutation_p.V518E|DACH1_ENST00000313174.7_Intron|DACH1_ENST00000354591.4_Intron	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	516					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	p.V466E(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GGAGCTGGACACGCTGCTGCT	0.552000													7	39					0	0	0.001984	0	0
ROM1	6094	broad.mit.edu	37	11	62380969	62380969	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:62380969G>A	ENST00000278833.3	+	1	757	c.216G>A	c.(214-216)gtG>gtA	p.V72V	ROM1_ENST00000534093.1_Intron	NM_000327.3	NP_000318.1	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	72					cell adhesion|visual perception	integral to plasma membrane		p.V72V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						CGGGCGCGGTGGCTCTGGGCA	0.677000													4	24					0	0	0.000602	0	0
NCOA3	8202	broad.mit.edu	37	20	46281260	46281260	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:46281260G>T	ENST00000372004.3	+	21	4261	c.4045G>T	c.(4045-4047)Gct>Tct	p.A1349S	NCOA3_ENST00000371997.3_Missense_Mutation_p.A1344S|NCOA3_ENST00000371998.3_Missense_Mutation_p.A1353S|NCOA3_ENST00000341724.6_Missense_Mutation_p.A1279S	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1353					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.A1353S(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ACACCCGCAGGCTGCATCCAT	0.488000													20	31					3.99206e-14	6.73457e-14	0.007413	1	0
PPIP5K2	23262	broad.mit.edu	37	5	102469323	102469323	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:102469323G>A	ENST00000321521.9	+	3	854	c.281G>A	c.(280-282)tGt>tAt	p.C94Y	PPIP5K2_ENST00000358359.3_Missense_Mutation_p.C94Y|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.C94Y|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	94					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	p.C94Y(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGGCCTTTATGTGATTGTCTT	0.328000													22	67					0	0	0.003330	0	0
SOHLH1	402381	broad.mit.edu	37	9	138589372	138589372	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:138589372C>A	ENST00000298466.5	-	4	507	c.447G>T	c.(445-447)acG>acT	p.T149T	SOHLH1_ENST00000425225.1_Silent_p.T149T	NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	149					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.T149T(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		TGGACGCTCCCGTCCCAGGGT	0.602000													7	25					0.000157383	0.000191818	0.003080	1	0
OR2T6	254879	broad.mit.edu	37	1	248551682	248551682	+	Missense_Mutation	SNP	C	C	T	rs141134612	by1000genomes	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:248551682C>T	ENST00000355728.2	+	1	773	c.773C>T	c.(772-774)aCg>aTg	p.T258M		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T258M(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	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)			GCCTTGTATACGTATACGCTT	0.473000													21	83					0	0	0.008871	0	0
SLC16A7	9194	broad.mit.edu	37	12	60168526	60168526	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:60168526C>T	ENST00000261187.4	+	4	614	c.450C>T	c.(448-450)gcC>gcT	p.A150A	SLC16A7_ENST00000552024.1_Silent_p.A150A|SLC16A7_ENST00000552432.1_Silent_p.A150A|SLC16A7_ENST00000547379.1_Silent_p.A150A|SLC16A7_ENST00000543448.1_Silent_p.A51A	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	150						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.A150A(1)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	ATGGATTGGCCATGGCAGGAA	0.418000													27	45					0	0	0.003954	0	0
ATAD3B	83858	broad.mit.edu	37	1	1420477	1420477	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:1420477C>T	ENST00000308647.7	+	8	948	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	278							ATP binding|nucleoside-triphosphatase activity	p.R278W(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CATCGAGGCTCGGCTGGGGAA	0.682000													4	13					0	0	0.000248	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125261889	125261889	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:125261889C>A	ENST00000431078.1	+	8	1444	c.1080C>A	c.(1078-1080)tgC>tgA	p.C360*		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	360	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTTTTTCCTGCTCCGAACCAC	0.458000													4	114					3.59834e-05	4.50131e-05	0.001168	1	0
ZC3H7B	23264	broad.mit.edu	37	22	41745200	41745200	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:41745200G>T	ENST00000352645.4	+	16	2100	c.1843G>T	c.(1843-1845)Gac>Tac	p.D615Y	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.D615Y	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	631					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	p.D615Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTTCCAGTTCGACGTGTGCCG	0.647000													14	98					3.32936e-07	4.56001e-07	0.006122	1	0
FOXR2	139628	broad.mit.edu	37	X	55651049	55651049	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:55651049C>A	ENST00000339140.3	+	1	1217	c.905C>A	c.(904-906)cCa>cAa	p.P302Q		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	302					embryo development|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|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.P302Q(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						ATGAGTCAGCCAGAGTTGTTG	0.483000													14	26					0.000219431	0.000266659	0.002450	1	0
PABPC3	5042	broad.mit.edu	37	13	25671349	25671349	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:25671349T>A	ENST00000281589.3	+	1	1050	c.1013T>A	c.(1012-1014)gTa>gAa	p.V338E		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	338	RRM 4.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	p.V338E(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TTTGGTTTTGTATGTTTCTCC	0.438000													43	152					0	0	0.002852	0	0
LAMC3	10319	broad.mit.edu	37	9	133962940	133962940	+	Silent	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:133962940G>C	ENST00000361069.4	+	26	4441	c.4308G>C	c.(4306-4308)acG>acC	p.T1436T	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1436	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity	p.T1436T(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CGCAAGCCACGCTCCAACAGG	0.657000													16	44					0	0	0.003163	0	0
ZNF521	25925	broad.mit.edu	37	18	22807073	22807073	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:22807073G>T	ENST00000361524.3	-	4	957	c.809C>A	c.(808-810)cCc>cAc	p.P270H	ZNF521_ENST00000538137.2_Missense_Mutation_p.P270H|ZNF521_ENST00000584787.1_Missense_Mutation_p.P50H	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	270					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.P270H(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGAGCATTCGGGGTGGCACTC	0.552000			T	PAX5	ALL								10	102					5.16669e-11	8.14501e-11	0.000978	1	0
HIST1H2BH	8345	broad.mit.edu	37	6	26252083	26252083	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:26252083G>C	ENST00000356350.2	+	1	205	c.205G>C	c.(205-207)Gat>Cat	p.D69H		NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	69					nucleosome assembly	nucleosome|nucleus	DNA binding	p.D69H(1)		NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						CTTTGTCAACGATATCTTCGA	0.567000													64	121					0	0	0.003610	0	0
CPA2	1358	broad.mit.edu	37	7	129906792	129906792	+	Splice_Site	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:129906792G>T	ENST00000222481.4	+	1	126	c.71_splice	c.e1+1	p.G24_splice		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	24					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	p.G22V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					ACATTTGTGGGGTAAGTTATG	0.403000													10	189					4.68919e-08	6.70461e-08	0.008291	1	0
COPZ2	51226	broad.mit.edu	37	17	46111234	46111234	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:46111234G>T	ENST00000006101.4	-	4	256	c.257C>A	c.(256-258)aCt>aAt	p.T86N	COPZ2_ENST00000584666.1_5'UTR	NM_016429.2	NP_057513.1	Q9P299	COPZ2_HUMAN	coatomer protein complex, subunit zeta 2	88					intracellular protein transport|vesicle-mediated transport	cis-Golgi network|COPI vesicle coat		p.T86N(1)		lung(3)|upper_aerodigestive_tract(1)	4						CTTACTCTCAGTCCGGCTGGT	0.488000													3	17					6.4e-05	7.95385e-05	0.004672	1	0
KCNB2	9312	broad.mit.edu	37	8	73848595	73848595	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:73848595G>T	ENST00000523207.1	+	3	1593	c.1005G>T	c.(1003-1005)ttG>ttT	p.L335F		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	335					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.L335F(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACAATGAATTGGGCTTGTTGA	0.473000													35	94					1.414e-09	2.1358e-09	0.003755	1	0
LRRTM1	347730	broad.mit.edu	37	2	80530201	80530201	+	Silent	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:80530201C>G	ENST00000295057.3	-	2	1400	c.744G>C	c.(742-744)gtG>gtC	p.V248V	CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.V248V|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	248						axon|endoplasmic reticulum membrane|growth cone|integral to membrane		p.V248V(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCGAGCTGACCACAATGGCCA	0.592000										HNSCC(69;0.2)			19	56					0	0	0.006122	0	0
C6orf223	221416	broad.mit.edu	37	6	43970830	43970830	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:43970830G>T	ENST00000336600.5	+	4	716	c.696G>T	c.(694-696)gcG>gcT	p.A232A	C6orf223_ENST00000439969.2_3'UTR|RP5-1120P11.1_ENST00000422059.1_RNA|RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000448947.2_3'UTR	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	232								p.A232A(1)		central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			CATCCGCGGCGCTCCGCGGCG	0.662000													14	45					1.37285e-15	2.38632e-15	0.004007	1	0
ASB4	51666	broad.mit.edu	37	7	95125234	95125234	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:95125234G>T	ENST00000325885.5	+	2	423	c.352G>T	c.(352-354)Gcc>Tcc	p.A118S	ASB4_ENST00000428113.1_Missense_Mutation_p.A118S|ASB4_ENST00000257621.4_3'UTR	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	118					intracellular signal transduction			p.A118S(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TTGTGAAATGGCCAATGTGGA	0.468000													17	64					6.49762e-13	1.06476e-12	0.006122	1	0
FBP2	8789	broad.mit.edu	37	9	97325681	97325681	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:97325681G>T	ENST00000375337.3	-	6	834	c.768C>A	c.(766-768)acC>acA	p.T256T	PCAT7_ENST00000452148.2_RNA	NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	256					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding	p.T256T(1)		endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				CATAGACCAGGGTGCGGTGCA	0.572000													7	64					2.0095e-06	2.67503e-06	0.001984	1	0
HSD17B7P2	158160	broad.mit.edu	37	10	38647334	38647334	+	RNA	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:38647334G>T	ENST00000494540.1	+	0	205					NR_003086.1																						GGCAGAAGCTGTCTGTGCTGC	0.577000													8	54					0.00307968	0.00358504	0.003080	1	0
ABCC12	94160	broad.mit.edu	37	16	48117856	48117856	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:48117856G>T	ENST00000311303.3	-	28	4302	c.3957C>A	c.(3955-3957)ctC>ctA	p.L1319L	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1319	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.L1319L(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GATCGCAGTTGAGAACTGTGT	0.512000													31	105					7.72975e-29	1.50427e-28	0.002836	1	0
DGKI	9162	broad.mit.edu	37	7	137075975	137075975	+	Silent	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:137075975A>G	ENST00000453654.1	-	33	2735	c.2196T>C	c.(2194-2196)acT>acC	p.T732T	DGKI_ENST00000288490.5_Silent_p.T1063T|DGKI_ENST00000446122.1_Silent_p.T1045T|DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000424189.2_Silent_p.T1076T			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	1063					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.T1063T(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GTCAAACAGCAGTTTCCAGGT	0.532000													28	105					0	0	0.002836	0	0
PROS1	5627	broad.mit.edu	37	3	93605240	93605240	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:93605240C>T	ENST00000394236.3	-	11	1579	c.1263G>A	c.(1261-1263)ctG>ctA	p.L421L	PROS1_ENST00000407433.1_Silent_p.L290L	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	421	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.E422*(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CTTTGGTTTCCAGCAATCCAT	0.373000													41	196					0	0	0.002522	0	0
HOXC13	3229	broad.mit.edu	37	12	54333267	54333267	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:54333267G>T	ENST00000243056.3	+	1	733	c.577G>T	c.(577-579)Gtg>Ttg	p.V193L	HOXC-AS5_ENST00000512916.2_RNA	NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	193						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.V193L(1)		breast(1)|large_intestine(1)|skin(1)	3						GGACGTGTCGGTGGTGCCCGG	0.672000			T	NUP98	AML								10	15					3.86212e-05	4.81677e-05	0.008291	1	0
PKD2	5311	broad.mit.edu	37	4	88989119	88989119	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:88989119G>A	ENST00000237596.2	+	13	2494	c.2428G>A	c.(2428-2430)Gat>Aat	p.D810N	PKD2_ENST00000502363.1_Missense_Mutation_p.D228N|PKD2_ENST00000508588.1_Missense_Mutation_p.D228N|PKD2_ENST00000511337.1_3'UTR	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	810	Linker.					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	p.D810N(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TCGAAGCCTGGATGACTCTGA	0.502000													7	54					0	0	0.001984	0	0
SPANXN2	494119	broad.mit.edu	37	X	142803913	142803913	+	Translation_Start_Site	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:142803913T>A	ENST00000370498.1	-	0	603					NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					ACTCTTGAGCTTTGTTTGATC	0.542000													5	6					0	0	0.000602	0	0
SEC23IP	11196	broad.mit.edu	37	10	121671606	121671606	+	Silent	SNP	G	G	T	rs146017364		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:121671606G>T	ENST00000369075.3	+	6	1314	c.1242G>T	c.(1240-1242)acG>acT	p.T414T	SEC23IP_ENST00000543134.1_Silent_p.T203T	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	414					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	p.T414T(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GGGGCACCACGCAAGATGGAC	0.438000													22	82					2.98393e-07	4.12777e-07	0.002780	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76350378	76350378	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:76350378A>T	ENST00000307431.8	+	3	536	c.151A>T	c.(151-153)Agc>Tgc	p.S51C	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S51C|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.S55C|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S27C|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	52	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.S27C(2)|p.S51C(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CGAGCTCTCCAGCAGTCATGG	0.473000													6	34					0	0	0.001984	0	0
DIDO1	11083	broad.mit.edu	37	20	61537159	61537159	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:61537159C>T	ENST00000370371.4	-	6	2023	c.1668G>A	c.(1666-1668)ctG>ctA	p.L556L	DIDO1_ENST00000395343.1_Intron|DIDO1_ENST00000354665.4_Silent_p.L556L|DIDO1_ENST00000395340.1_Intron|DIDO1_ENST00000395335.2_Intron|DIDO1_ENST00000266071.5_Intron|DIDO1_ENST00000266070.4_Intron|DIDO1_ENST00000370366.1_Intron|DIDO1_ENST00000370368.1_Silent_p.L556L	NM_022105.4	NP_071388.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	0			A -> T (in dbSNP:rs1883847).		apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.L556L(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTGCAACTCCCAGTCCTGGAC	0.572000													7	78					0	0	0.001984	0	0
CRYGD	1421	broad.mit.edu	37	2	208988977	208988977	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:208988977G>T	ENST00000264376.4	-	2	138	c.111C>A	c.(109-111)cgC>cgA	p.R37R		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	37	Beta/gamma crystallin 'Greek key' 1.		R -> S (in a patient with cataract; very low solubility; crystallizes spontaneously).		cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens	p.R37R(1)		breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		CGCTGTCCACGCGCGCCGAGT	0.652000													7	13					0.00198382	0.00231911	0.001984	1	0
CSMD3	114788	broad.mit.edu	37	8	113668414	113668414	+	Silent	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:113668414A>T	ENST00000297405.5	-	18	3217	c.2973T>A	c.(2971-2973)cgT>cgA	p.R991R	CSMD3_ENST00000343508.3_Silent_p.R951R|CSMD3_ENST00000352409.3_Silent_p.R991R|CSMD3_ENST00000455883.2_Silent_p.R887R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	991	CUB 5.					integral to membrane|plasma membrane		p.R991R(1)|p.R951R(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATTATTGGAACGACTGTTGT	0.323000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	76					0	0	0.007413	0	0
TRBV2	28620	broad.mit.edu	37	7	142000998	142000998	+	RNA	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:142000998G>T	ENST00000455382.2	+	0	164																											CCAGCCATCAGGTCACACAGA	0.438000													5	29					8.12818e-05	0.000100244	0.001984	1	0
TBX18	9096	broad.mit.edu	37	6	85446572	85446572	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:85446572C>A	ENST00000369663.5	-	8	1992	c.1655G>T	c.(1654-1656)gGa>gTa	p.G552V	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	552					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.G552V(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CAAGAAACTTCCTTGGGAAGA	0.512000													16	121					1.99824e-07	2.77347e-07	0.004990	1	0
OR5K4	403278	broad.mit.edu	37	3	98073305	98073305	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:98073305C>A	ENST00000354924.2	+	1	608	c.608C>A	c.(607-609)tCa>tAa	p.S203*	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S203*(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TATATCTTTTCAATACCAATT	0.328000													18	76					2.35188e-11	3.74317e-11	0.006122	1	0
IL4R	3566	broad.mit.edu	37	16	27374420	27374420	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:27374420G>A	ENST00000395762.2	+	11	2006	c.1747G>A	c.(1747-1749)Gag>Aag	p.E583K	IL4R_ENST00000380922.3_Missense_Mutation_p.E568K|IL4R_ENST00000170630.2_Missense_Mutation_p.E583K|IL4R_ENST00000543915.2_Missense_Mutation_p.E583K	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	583	Required for IL4-induced gene expression.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	p.E583K(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						ACATGCGGTGGAGCAGGGTGG	0.647000													11	45					0	0	0.000978	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84609611	84609611	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:84609611C>G	ENST00000344803.2	+	4	4273	c.4226C>G	c.(4225-4227)aCt>aGt	p.T1409S		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1									p.T1409S(2)									AGGAAAGACACTAGGGAGTTC	0.493000													3	22					0	0	0.000248	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130828276	130828276	+	Splice_Site	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:130828276T>A	ENST00000509018.1	-	14	1935	c.1731_splice	c.e14+1	p.Q577_splice	RAPGEF6_ENST00000507093.1_Splice_Site_p.Q577_splice|RAPGEF6_ENST00000510071.1_Splice_Site_p.Q577_splice|RAPGEF6_ENST00000296859.6_Splice_Site_p.Q577_splice|FNIP1_ENST00000514667.1_Splice_Site_p.Q627_splice|RAPGEF6_ENST00000307984.5_Splice_Site_p.Q577_splice|RAPGEF6_ENST00000512052.1_Splice_Site_p.Q292_splice|RAPGEF6_ENST00000308008.6_Splice_Site_p.Q577_splice	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	577	PDZ.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	p.Q577L(3)|p.Q627L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TTTCCTTACCTGATCACCACG	0.403000													29	59					0	0	0.001786	0	0
SNX30	401548	broad.mit.edu	37	9	115600941	115600941	+	Silent	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:115600941G>C	ENST00000374232.3	+	6	1142	c.978G>C	c.(976-978)gtG>gtC	p.V326V		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	326					cell communication|protein transport	cytoplasm	phosphatidylinositol binding	p.V326V(1)		large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TCCTACCTGTGCTCAGGGAAT	0.438000													17	100					0	0	0.004990	0	0
NOS1AP	9722	broad.mit.edu	37	1	162337164	162337164	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:162337164C>A	ENST00000493151.1	+	2	2910	c.543C>A	c.(541-543)cgC>cgA	p.R181R	NOS1AP_ENST00000361897.5_Silent_p.R476R|NOS1AP_ENST00000530878.1_Silent_p.R471R|NOS1AP_ENST00000454693.1_3'UTR|RP11-565P22.6_ENST00000431696.1_Intron	NM_001126060.1	NP_001119532.2	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	476	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	p.R476R(2)|p.R181R(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GCGAGGAGCGCGACTCGTGGT	0.657000													6	13					0.00116845	0.00137464	0.001168	1	0
GPR97	222487	broad.mit.edu	37	16	57712138	57712138	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:57712138C>A	ENST00000333493.4	+	4	563	c.402C>A	c.(400-402)ccC>ccA	p.P134P	GPR97_ENST00000327655.6_5'UTR|GPR97_ENST00000450388.3_Silent_p.P14P	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	134					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P134P(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGCGACTTCCCAAGAGCCTTT	0.582000													13	65					9.31168e-06	1.20667e-05	0.001855	1	0
FOLH1B	219595	broad.mit.edu	37	11	89420530	89420530	+	RNA	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:89420530G>A	ENST00000532352.1	+	0	1345							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	p.E178K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AAGCCCTGATGAAGGCTTTGA	0.343000													5	90					0	0	0.000602	0	0
USH2A	7399	broad.mit.edu	37	1	216420110	216420110	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:216420110C>A	ENST00000366943.2	-	13	3012	c.2626G>T	c.(2626-2628)Ggt>Tgt	p.G876C	USH2A_ENST00000307340.3_Missense_Mutation_p.G876C|USH2A_ENST00000366942.3_Missense_Mutation_p.G876C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	876	Laminin EGF-like 7.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.G876C(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAGCGAAGACCTGTTACCCCT	0.448000										HNSCC(13;0.011)			39	225					4.90274e-10	7.53569e-10	0.006230	1	0
STC2	8614	broad.mit.edu	37	5	172753012	172753012	+	Splice_Site	SNP	C	C	T	rs145449570	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:172753012C>T	ENST00000265087.4	-	2	1462	c.151_splice	c.e2-1	p.A51_splice		NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	51					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity	p.A51A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCTGGATCTCCGCTAAAAGGA	0.413000													41	107					0	0	0.002222	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39178249	39178249	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:39178249T>G	ENST00000297668.6	-	5	720	c.647A>C	c.(646-648)cAg>cCg	p.Q216P	CNTNAP3_ENST00000377656.2_Missense_Mutation_p.Q216P|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.Q128P|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.Q216P|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.Q216P	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	216	Laminin G-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	p.Q216P(1)		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)		TCCATTGCTCTGCATGGCTTT	0.323000													14	206					0	0	0.001855	0	0
KCNC4	3749	broad.mit.edu	37	1	110768730	110768730	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:110768730C>T	ENST00000369787.3	+	3	1776	c.1749C>T	c.(1747-1749)aaC>aaT	p.N583N	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Silent_p.N583N|KCNC4_ENST00000413138.3_Silent_p.N583N	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	583					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.N583N(2)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GAGACAGAAACAAGAAGGCAG	0.647000													12	39					0	0	0.001368	0	0
DIAPH2	1730	broad.mit.edu	37	X	96328001	96328001	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:96328001A>C	ENST00000324765.8	+	18	2459	c.2112A>C	c.(2110-2112)aaA>aaC	p.K704N	DIAPH2_ENST00000355827.4_Missense_Mutation_p.K704N|DIAPH2_ENST00000373049.4_Missense_Mutation_p.K704N|DIAPH2_ENST00000373061.3_Missense_Mutation_p.K704N|DIAPH2_ENST00000373054.4_Missense_Mutation_p.K700N			O60879	DIAP2_HUMAN	diaphanous-related formin 2	704	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	p.K704N(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AGAAAGTGAAAGAACTGAGAA	0.378000													3	21					0	0	0.000602	0	0
TFIP11	24144	broad.mit.edu	37	22	26902740	26902740	+	Splice_Site	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:26902740C>T	ENST00000407690.1	-	5	647		c.e5+1		TFIP11_ENST00000407431.1_Splice_Site|TFIP11_ENST00000407148.1_Splice_Site|TFIP11_ENST00000405938.1_Splice_Site	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11						biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	p.?(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						ATAGAGACTACCGTTTTTAGC	0.458000													15	78					0	0	0.004990	0	0
RADIL	55698	broad.mit.edu	37	7	4874576	4874576	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:4874576G>T	ENST00000399583.3	-	4	1265	c.1078C>A	c.(1078-1080)Cag>Aag	p.Q360K	RADIL_ENST00000538469.1_Missense_Mutation_p.Q120K|RADIL_ENST00000536091.1_Missense_Mutation_p.Q360K	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	360	FHA.				cell adhesion|multicellular organismal development|signal transduction		protein binding	p.Q360K(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGCTGGGCCTGCGCGGGGTCC	0.746000													5	12					5.9392e-07	8.08784e-07	0.001168	1	0
CCL15	6359	broad.mit.edu	37	17	34325363	34325363	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:34325363C>T	ENST00000354059.4	-	3	753	c.201G>A	c.(199-201)atG>atA	p.M67I	CCL14_ENST00000536149.1_5'UTR|CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.M67I	NM_032965.4	NP_116741.1	Q16663	CCL15_HUMAN	chemokine (C-C motif) ligand 15	67					cell-cell signaling|cellular calcium ion homeostasis|immune response	extracellular space	chemoattractant activity|chemokine activity|heparin binding|signal transducer activity	p.M67I(1)		large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AATAACTTTTCATGAGTGAAC	0.502000													17	36					0	0	0.001523	0	0
RYR2	6262	broad.mit.edu	37	1	237947327	237947327	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:237947327C>A	ENST00000366574.2	+	90	12632	c.12315C>A	c.(12313-12315)ctC>ctA	p.L4105L	RYR2_ENST00000360064.6_Silent_p.L4111L|RYR2_ENST00000542537.1_Silent_p.L4089L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4105					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.L4103L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGACAAACCTCTCTGAGCACA	0.512000													9	42					0.00448238	0.00518158	0.004482	1	0
MAATS1	89876	broad.mit.edu	37	3	119466073	119466073	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:119466073G>T	ENST00000273390.5	+	15	2091	c.2014G>T	c.(2014-2016)Gag>Tag	p.E672*	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1									p.E672*(1)									GAAGATGGCTGAGAAAATCAA	0.393000													14	46					0.000219431	0.000266659	0.002450	1	0
MUC17	140453	broad.mit.edu	37	7	100680500	100680500	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:100680500A>T	ENST00000306151.4	+	3	5867	c.5803A>T	c.(5803-5805)Acc>Tcc	p.T1935S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1935	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T1935S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCTGTCAGCACCACAACAGT	0.488000													32	454					0	0	0.001786	0	0
KIR2DL4	3805	broad.mit.edu	37	19	55325168	55325168	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:55325168C>A	ENST00000396284.2	+	7	895	c.895C>A	c.(895-897)Cct>Act	p.P299T	KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000346587.4_Missense_Mutation_p.P149T|KIR2DL4_ENST00000396293.1_Missense_Mutation_p.P132T|KIR2DL4_ENST00000345540.5_Missense_Mutation_p.P244T|KIR2DL4_ENST00000357494.4_Missense_Mutation_p.P227T|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000359085.4_3'UTR					killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4									p.P244T(1)		NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		GAACCAAGAGCCTGCGGGACA	0.493000													31	43					9.73076e-26	1.8631e-25	0.006999	1	0
CTSF	8722	broad.mit.edu	37	11	66335115	66335115	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:66335115G>C	ENST00000310325.5	-	3	440	c.331C>G	c.(331-333)Ctg>Gtg	p.L111V	CTSF_ENST00000533168.1_5'UTR	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	111					proteolysis	lysosome	cysteine-type endopeptidase activity	p.L111V(1)		endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AGCTCATCCAGGACTTGGAAG	0.612000													13	103					0	0	0.002450	0	0
SPARC	6678	broad.mit.edu	37	5	151054176	151054176	+	Silent	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:151054176A>T	ENST00000231061.4	-	3	430	c.117T>A	c.(115-117)acT>acA	p.T39T		NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	39	Asp/Glu-rich (acidic; binds calcium).				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding	p.T39T(1)		central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	CACATACCTCAGTCACCTCTG	0.542000													44	89					0	0	0.002522	0	0
MCF2L	23263	broad.mit.edu	37	13	113729424	113729424	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:113729424G>T	ENST00000397030.1	+	11	1365	c.1328G>T	c.(1327-1329)tGt>tTt	p.C443F	MCF2L_ENST00000375608.3_Missense_Mutation_p.C440F|MCF2L_ENST00000434480.2_Missense_Mutation_p.C416F|MCF2L_ENST00000421756.1_Missense_Mutation_p.C414F|MCF2L_ENST00000375604.2_Missense_Mutation_p.C467F|MCF2L_ENST00000442652.2_Missense_Mutation_p.C440F|MCF2L_ENST00000535094.2_Missense_Mutation_p.C410F|MCF2L_ENST00000375597.4_Missense_Mutation_p.C408F|MCF2L_ENST00000375601.3_Missense_Mutation_p.C414F|MCF2L_ENST00000423482.2_Missense_Mutation_p.C408F			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	440					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	p.C414F(1)|p.C467F(1)		kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	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;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CGGCACCTCTGTGACCAGTTC	0.667000													13	68					7.03913e-09	1.0433e-08	0.001368	1	0
RP1L1	94137	broad.mit.edu	37	8	10467868	10467868	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:10467868G>A	ENST00000382483.3	-	4	3963	c.3740C>T	c.(3739-3741)cCa>cTa	p.P1247L		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1247					intracellular signal transduction			p.P1247L(1)		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)		CAGATCCCCTGGGCTCTCATA	0.552000													12	45					0	0	0.000978	0	0
SORCS3	22986	broad.mit.edu	37	10	106960943	106960943	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:106960943C>T	ENST00000369701.3	+	16	2420	c.2193C>T	c.(2191-2193)gcC>gcT	p.A731A	SORCS3_ENST00000369699.4_Silent_p.A17A	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	731						integral to membrane	neuropeptide receptor activity	p.A731A(1)		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)		CTCAGTGTGCCCTGGGCCGAG	0.478000													20	64					0	0	0.007413	0	0
ABCA6	23460	broad.mit.edu	37	17	67103890	67103890	+	Nonsense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:67103890G>C	ENST00000284425.2	-	18	2510	c.2336C>G	c.(2335-2337)tCa>tGa	p.S779*		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	779					transport	integral to membrane	ATP binding|ATPase activity	p.S779*(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATTTAGAGTTGACATGGAAAT	0.353000													6	72					0	0	0.001168	0	0
FSCN3	29999	broad.mit.edu	37	7	127238614	127238614	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:127238614C>T	ENST00000265825.5	+	4	1305	c.1086C>T	c.(1084-1086)ccC>ccT	p.P362P	FSCN3_ENST00000420086.2_Silent_p.P228P	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	362						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	p.P362P(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GCATTGCACCCAACAGCCTGC	0.567000													35	126					0	0	0.004878	0	0
PDE1C	5137	broad.mit.edu	37	7	31877505	31877505	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:31877505G>A	ENST00000396184.3	-	11	1265	c.1061C>T	c.(1060-1062)aCt>aTt	p.T354I	PDE1C_ENST00000396182.2_Missense_Mutation_p.T354I|PDE1C_ENST00000396193.1_Missense_Mutation_p.T414I|PDE1C_ENST00000321453.7_Missense_Mutation_p.T354I|PDE1C_ENST00000396191.1_Missense_Mutation_p.T354I	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	354	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.T354I(2)|p.T414I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CTGCAGAGCAGTCTTCATTGC	0.433000													68	287					0	0	0.003610	0	0
GPR156	165829	broad.mit.edu	37	3	119887165	119887165	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:119887165T>A	ENST00000464295.1	-	10	1604	c.1159A>T	c.(1159-1161)Atg>Ttg	p.M387L	GPR156_ENST00000461057.1_Missense_Mutation_p.M383L|GPR156_ENST00000315843.3_Missense_Mutation_p.M387L			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	387						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.M387L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TCAGCTGACATCAGCCTCACA	0.512000													25	49					0	0	0.003954	0	0
N4BP1	9683	broad.mit.edu	37	16	48576960	48576960	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:48576960C>A	ENST00000262384.3	-	7	2782	c.2546G>T	c.(2545-2547)aGa>aTa	p.R849I	N4BP1_ENST00000565423.1_5'UTR	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	849					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		p.R896I(1)|p.R849I(1)		breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TGCAGAAGATCTCTGAGCTGG	0.582000													7	56					8.12818e-05	0.000100244	0.001984	1	0
ADAM12	8038	broad.mit.edu	37	10	127782644	127782644	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:127782644T>C	ENST00000368679.4	-	11	1373	c.1064A>G	c.(1063-1065)aAt>aGt	p.N355S	ADAM12_ENST00000368676.4_Missense_Mutation_p.N355S	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	355	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	p.N355S(3)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CATCCCGAAATTGTGGCCCAG	0.502000													16	54					0	0	0.004007	0	0
HTR5A	3361	broad.mit.edu	37	7	154862664	154862664	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:154862664G>C	ENST00000287907.2	+	1	631	c.55G>C	c.(55-57)Gag>Cag	p.E19Q	AC093726.4_ENST00000395731.2_Intron|AC093726.4_ENST00000493904.1_Intron|AC093726.4_ENST00000543018.1_Intron	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	19						integral to plasma membrane	serotonin receptor activity	p.E19Q(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CTCCCCTTTGGAGACCAACCA	0.597000													22	120					0	0	0.002780	0	0
ADI1	55256	broad.mit.edu	37	2	3504654	3504654	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:3504654G>A	ENST00000382093.5	-	3	3170	c.333C>T	c.(331-333)atC>atT	p.I111I	ADI1_ENST00000327435.6_Silent_p.I117I			Q9BV57	MTND_HUMAN	acireductone dioxygenase 1	117					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus|plasma membrane	acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding	p.I117I(1)		breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		TCTCCATGAAGATCCGGATCC	0.582000													7	39					0	0	0.006214	0	0
HTR1F	3355	broad.mit.edu	37	3	88039965	88039965	+	Silent	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:88039965C>G	ENST00000319595.4	+	1	120	c.66C>G	c.(64-66)tcC>tcG	p.S22S		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	22					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity	p.S22S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	GAATGCCATCCAAAATTCTGG	0.398000													21	160					0	0	0.003330	0	0
SCN11A	11280	broad.mit.edu	37	3	38888709	38888709	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:38888709A>C	ENST00000302328.3	-	26	5050	c.4852T>G	c.(4852-4854)Ttg>Gtg	p.L1618V	SCN11A_ENST00000456224.3_Missense_Mutation_p.L1580V|SCN11A_ENST00000450244.1_Missense_Mutation_p.L1618V	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1618					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.L1618V(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCTTCACCCAAAGGGTCCTCA	0.373000													25	108					0	0	0.007291	0	0
COL4A3BP	10087	broad.mit.edu	37	5	74807074	74807074	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:74807074C>T	ENST00000380494.5	-	2	636	c.343G>A	c.(343-345)Gag>Aag	p.E115K	COL4A3BP_ENST00000405807.4_5'UTR|COL4A3BP_ENST00000261415.7_5'UTR	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	0	PH.				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity	p.E115K(1)		breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		CCCGCTCCCTCAGCTGCGCCG	0.687000													4	12					0	0	0.000248	0	0
CACNA1G	8913	broad.mit.edu	37	17	48684342	48684342	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:48684342G>T	ENST00000352832.5	+	23	4807	c.4435G>T	c.(4435-4437)Gac>Tac	p.D1479Y	CACNA1G_ENST00000358244.5_Missense_Mutation_p.D1479Y|CACNA1G_ENST00000503485.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000429973.2_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000513689.2_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000510115.1_Missense_Mutation_p.D1479Y|CACNA1G_ENST00000442258.2_Missense_Mutation_p.D1479Y|CACNA1G_ENST00000512389.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000505165.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000360761.4_Missense_Mutation_p.D1479Y|CACNA1G_ENST00000354983.4_Missense_Mutation_p.D1479Y|CACNA1G_ENST00000502264.1_Missense_Mutation_p.D1479Y|CACNA1G_ENST00000359106.5_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000507896.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000515765.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000515411.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000515165.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000514717.1_Missense_Mutation_p.D1479Y|CACNA1G_ENST00000507510.2_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000514181.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000507609.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000514079.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000507336.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000510366.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000513964.1_Missense_Mutation_p.D1502Y	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1502					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.D1502Y(2)|p.D1479Y(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGTGGGCGTGGACCAGCAGGT	0.582000													8	42					3.09899e-07	4.25502e-07	0.004482	1	0
ZNF587	84914	broad.mit.edu	37	19	58370797	58370797	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:58370797C>T	ENST00000339656.5	+	3	1199	c.1017C>T	c.(1015-1017)ctC>ctT	p.L339L	ZNF814_ENST00000595295.1_Intron|ZNF587_ENST00000419854.1_Silent_p.L296L|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000423137.1_Silent_p.L338L	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L339L(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		AGGGTAACCTCATTCAACATC	0.453000													63	144					0	0	0.003610	0	0
MDGA2	161357	broad.mit.edu	37	14	47530601	47530601	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:47530601T>A	ENST00000426342.1	-	7	1228	c.482A>T	c.(481-483)cAg>cTg	p.Q161L	MDGA2_ENST00000357362.3_Missense_Mutation_p.Q161L|MDGA2_ENST00000439988.2_Missense_Mutation_p.Q390L|MDGA2_ENST00000399232.2_Missense_Mutation_p.Q459L	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	390	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.Q161L(2)|p.Q459L(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AGGATCAGTCTGTGTAATGAC	0.413000													19	141					0	0	0.008871	0	0
TGOLN2	10618	broad.mit.edu	37	2	85554096	85554096	+	Silent	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:85554096A>C	ENST00000377386.3	-	2	1221	c.759T>G	c.(757-759)gtT>gtG	p.V253V	TGOLN2_ENST00000409015.1_Silent_p.V253V|TGOLN2_ENST00000409232.3_Silent_p.V253V|TGOLN2_ENST00000398263.2_Intron|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000444342.2_Silent_p.V253V			O43493	TGON2_HUMAN	trans-golgi network protein 2	253						integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	p.V253V(1)									GCTGCTCTGGAACCACCTTGT	0.567000													15	139					0	0	0.003163	0	0
COL12A1	1303	broad.mit.edu	37	6	75827165	75827165	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:75827165G>T	ENST00000322507.8	-	47	7761	c.7452C>A	c.(7450-7452)gaC>gaA	p.D2484E	COL12A1_ENST00000483888.2_Missense_Mutation_p.D2484E|COL12A1_ENST00000416123.2_Missense_Mutation_p.D2484E|COL12A1_ENST00000345356.6_Missense_Mutation_p.D1320E	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2484	Nonhelical region (NC3).|VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.D2484E(1)		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						ATTCAAAGTCGTCCACAATGA	0.423000													7	86					0.00198382	0.00231911	0.001984	1	0
OR2M7	391196	broad.mit.edu	37	1	248487667	248487667	+	Silent	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:248487667G>C	ENST00000317965.2	-	1	232	c.204C>G	c.(202-204)ctC>ctG	p.L68L		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L68L(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			TGAGGTCCATGAGGGACAGTT	0.512000													62	452					0	0	0.003610	0	0
SVIL	6840	broad.mit.edu	37	10	29784046	29784046	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:29784046G>A	ENST00000375398.2	-	21	4178	c.3729C>T	c.(3727-3729)acC>acT	p.T1243T	SVIL_ENST00000538146.1_Silent_p.T35T|SVIL_ENST00000355867.4_Silent_p.T1243T|SVIL_ENST00000375400.3_Silent_p.T817T|SVIL_ENST00000535393.1_Silent_p.T157T			O95425	SVIL_HUMAN	supervillin	1243					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	p.T1243T(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AAACGGGTGTGGTGCCTCTTG	0.552000													8	31					0	0	0.001368	0	0
PADI4	23569	broad.mit.edu	37	1	17674519	17674519	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:17674519G>A	ENST00000375448.4	+	10	1157	c.1131G>A	c.(1129-1131)aaG>aaA	p.K377K	AC004824.2_ENST00000602074.1_Intron|PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	377					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	p.K377K(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GAGGCCTGAAGGAGTTTCCCA	0.567000													5	30					0	0	0.001168	0	0
ADAM2	2515	broad.mit.edu	37	8	39646227	39646227	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:39646227G>T	ENST00000265708.4	-	8	706	c.603C>A	c.(601-603)gtC>gtA	p.V201V	ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Silent_p.V201V|ADAM2_ENST00000347580.4_Silent_p.V182V	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	201	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.V201V(2)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTTTTTGAGCGACAACAGTTG	0.289000													4	28					3.59834e-05	4.50131e-05	0.001168	1	0
THEMIS	387357	broad.mit.edu	37	6	128040881	128040881	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:128040881C>A	ENST00000368250.1	-	6	2107	c.1609G>T	c.(1609-1611)Gtg>Ttg	p.V537L	THEMIS_ENST00000543064.1_Missense_Mutation_p.V655L|THEMIS_ENST00000537166.1_Missense_Mutation_p.V581L|THEMIS_ENST00000368248.2_Missense_Mutation_p.V616L			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	616					negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		p.V616L(1)		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						TCTTCATCCACCAAATCATTC	0.443000													9	80					3.09899e-07	4.25502e-07	0.004482	1	0
OR4L1	122742	broad.mit.edu	37	14	20528892	20528892	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:20528892C>T	ENST00000315683.1	+	1	689	c.689C>T	c.(688-690)tCa>tTa	p.S230L		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S230L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AAAAAATCATCACATGGGCTC	0.438000													71	118					0	0	0.003610	0	0
OR51S1	119692	broad.mit.edu	37	11	4869754	4869754	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:4869754C>T	ENST00000322101.2	-	1	760	c.685G>A	c.(685-687)Ggc>Agc	p.G229S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G229S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AACACCTTGCCAATCAGGCCA	0.542000													12	35					0	0	0.001368	0	0
BFSP2	8419	broad.mit.edu	37	3	133169234	133169234	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:133169234G>C	ENST00000302334.2	+	4	906	c.817G>C	c.(817-819)Gag>Cag	p.E273Q	RP11-91K8.1_ENST00000515542.1_RNA|BFSP2_ENST00000511434.1_3'UTR	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	273	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						CGACATCCTTGAGACGATCAG	0.527000													3	106					0	0	0.004672	0	0
SCN11A	11280	broad.mit.edu	37	3	38888711	38888711	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:38888711G>A	ENST00000302328.3	-	26	5048	c.4850C>T	c.(4849-4851)cCt>cTt	p.P1617L	SCN11A_ENST00000456224.3_Missense_Mutation_p.P1579L|SCN11A_ENST00000450244.1_Missense_Mutation_p.P1617L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1617					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.P1617L(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TTCACCCAAAGGGTCCTCACT	0.368000													26	104					0	0	0.007291	0	0
PCDH15	65217	broad.mit.edu	37	10	56138610	56138610	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:56138610A>T	ENST00000373965.2	-	4	644	c.250T>A	c.(250-252)Tgg>Agg	p.W84R	PCDH15_ENST00000414778.1_Missense_Mutation_p.W89R|PCDH15_ENST00000320301.6_Missense_Mutation_p.W84R|PCDH15_ENST00000373957.3_Missense_Mutation_p.W62R|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.W84R|PCDH15_ENST00000373955.1_Missense_Mutation_p.W84R|PCDH15_ENST00000437009.1_Missense_Mutation_p.W84R|PCDH15_ENST00000395440.1_Missense_Mutation_p.W84R|PCDH15_ENST00000395442.1_Missense_Mutation_p.W84R|PCDH15_ENST00000395445.1_Missense_Mutation_p.W84R|PCDH15_ENST00000395446.1_Missense_Mutation_p.W84R|PCDH15_ENST00000395432.2_Missense_Mutation_p.W84R|PCDH15_ENST00000361849.3_Missense_Mutation_p.W84R|PCDH15_ENST00000395438.1_Missense_Mutation_p.W84R|PCDH15_ENST00000395433.1_Missense_Mutation_p.W62R	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	84	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.W84R(3)|p.W89R(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATCAACACCCAGTAATCCACA	0.428000										HNSCC(58;0.16)			41	141					0	0	0.002522	0	0
PARK2	5071	broad.mit.edu	37	6	161969909	161969909	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:161969909C>G	ENST00000366898.1	-	9	1162	c.1060G>C	c.(1060-1062)Ggg>Cgg	p.G354R	PARK2_ENST00000366892.1_Missense_Mutation_p.G354R|PARK2_ENST00000366894.1_Missense_Mutation_p.G163R|PARK2_ENST00000366896.1_Missense_Mutation_p.G205R|PARK2_ENST00000366897.1_Missense_Mutation_p.G326R|PARK2_ENST00000338468.3_Missense_Mutation_p.G163R	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	354					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.G354R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CCATTGCCCCCTTCGCAGGTG	0.612000													30	108					0	0	0.007291	0	0
OR10G8	219869	broad.mit.edu	37	11	123900553	123900553	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:123900553C>T	ENST00000431524.1	+	1	257	c.224C>T	c.(223-225)aCg>aTg	p.T75M		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T75M(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TCCACTGTCACGGTGCCCAAA	0.522000													33	150					0	0	0.003271	0	0
GPC6	10082	broad.mit.edu	37	13	94958244	94958244	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:94958244G>A	ENST00000377047.4	+	6	1634	c.1019G>A	c.(1018-1020)gGa>gAa	p.G340E		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	340						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.G340E(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GTCTTTCAGGGATGTGGTCAG	0.448000													24	251					0	0	0.003954	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329046	88329046	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:88329046G>T	ENST00000325089.6	+	2	1622	c.1403G>T	c.(1402-1404)aGg>aTg	p.R468M	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R227M	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	468						integral to membrane		p.R468M(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					AATGGCAACAGGATCGAGAGG	0.552000													10	47					3.86212e-05	4.81677e-05	0.008291	1	0
TMPRSS15	5651	broad.mit.edu	37	21	19698799	19698799	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr21:19698799C>T	ENST00000284885.3	-	16	1904	c.1871G>A	c.(1870-1872)aGa>aAa	p.R624K		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	624	CUB 2.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.R624K(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AAACCCTCCTCTTGCCAACAC	0.453000													17	126					0	0	0.008871	0	0
OR8H2	390151	broad.mit.edu	37	11	55873273	55873273	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:55873273A>G	ENST00000313503.1	+	1	755	c.755A>G	c.(754-756)tAt>tGt	p.Y252C		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y252C(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ACCATCTTTTATAGCACTCTG	0.373000										HNSCC(53;0.14)			32	80					0	0	0.002445	0	0
BIN2	51411	broad.mit.edu	37	12	51717914	51717914	+	Translation_Start_Site	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:51717914C>A	ENST00000267012.4	-	0	34				BIN2_ENST00000544402.1_Intron|BIN2_ENST00000452142.2_De_novo_Start_OutOfFrame	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2							cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GGCCGCCGCCCTGGCCCCGCG	0.726000													11	17					3.07112e-06	4.04287e-06	0.000978	1	0
MUC17	140453	broad.mit.edu	37	7	100683216	100683216	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:100683216C>T	ENST00000306151.4	+	3	8583	c.8519C>T	c.(8518-8520)cCt>cTt	p.P2840L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2840	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P2840L(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCAGCACACCTGTGACCACT	0.473000													130	480					0	0	0.003610	0	0
C5orf58	133874	broad.mit.edu	37	5	169672990	169672990	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:169672990A>G	ENST00000521850.1	+	3	1871	c.182A>G	c.(181-183)gAc>gGc	p.D61G	C5orf58_ENST00000517575.1_Intron|C5orf58_ENST00000593851.1_Missense_Mutation_p.D61G			C9J3I9	CE058_HUMAN	chromosome 5 open reading frame 58	61								p.D61G(1)		large_intestine(1)|lung(4)|urinary_tract(1)	6						TTGCTTTGTGACCTTATCCTA	0.348000													14	169					0	0	0.004990	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26428229	26428229	+	RNA	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:26428229G>C	ENST00000466808.2	+	0	1198																		p.?(1)									ATTCTGTCAGGGCAAAAGGAG	0.378000													22	49					0	0	0.002299	0	0
DEFB110	245913	broad.mit.edu	37	6	49986799	49986799	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:49986799C>A	ENST00000371148.2	-	2	140	c.95G>T	c.(94-96)aGg>aTg	p.R32M	DEFB110_ENST00000393660.2_Intron	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	32					defense response to bacterium	extracellular region		p.R32M(1)		endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					GCACTCTCTCCTCAAGTCCAA	0.373000													20	124					2.70639e-06	3.58263e-06	0.002299	1	0
OR5L1	219437	broad.mit.edu	37	11	55579417	55579417	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:55579417C>A	ENST00000333973.2	+	1	564	c.475C>A	c.(475-477)Cat>Aat	p.H159N		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H159N(1)|p.H159Y(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TTCTCTGATTCATTTGTGCTT	0.443000													52	171					2.27781e-18	4.10996e-18	0.003610	1	0
DNAAF3	352909	broad.mit.edu	37	19	55670618	55670618	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:55670618C>A	ENST00000527223.2	-	12	1640	c.1639G>T	c.(1639-1641)Gcc>Tcc	p.A547S	CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000587789.2_5'UTR|CTD-2587H24.4_ENST00000587871.1_Missense_Mutation_p.G141V|DNAAF3_ENST00000524407.2_Missense_Mutation_p.A480S|DNAAF3_ENST00000455045.1_Missense_Mutation_p.A426S|DNAAF3_ENST00000391720.4_Missense_Mutation_p.A527S	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	480								p.A527S(1)									AGAGGCTGGGCCAGGATGTCA	0.632000													7	21					5.4927e-09	8.16284e-09	0.004482	1	0
KIAA1257	57501	broad.mit.edu	37	3	128695883	128695883	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:128695883A>T	ENST00000265068.5	-	6	1002	c.835T>A	c.(835-837)Tct>Act	p.S279T	KIAA1257_ENST00000515659.1_Missense_Mutation_p.S167T|KIAA1257_ENST00000511438.1_Missense_Mutation_p.S279T|KIAA1257_ENST00000510149.1_5'UTR	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	279								p.S279T(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						TTCTTGGAAGAAGTTTCGGGC	0.443000													5	73					0	0	0.001168	0	0
NMUR2	56923	broad.mit.edu	37	5	151784225	151784225	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:151784225G>A	ENST00000255262.3	-	1	615	c.450C>T	c.(448-450)caC>caT	p.H150H	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	150					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	p.H150H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CGCGGAACGGGTGTAGGATGG	0.642000													12	57					0	0	0.001368	0	0
OR14A16	284532	broad.mit.edu	37	1	247978337	247978337	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:247978337T>A	ENST00000357627.1	-	1	694	c.695A>T	c.(694-696)cAg>cTg	p.Q232L		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q232L(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GGCTTTTGACTGGCCTTCTGT	0.408000													5	37					0	0	0.001984	0	0
DTNA	1837	broad.mit.edu	37	18	32459649	32459649	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:32459649A>T	ENST00000283365.9	+	19	2227	c.1876A>T	c.(1876-1878)Agt>Tgt	p.S626C	DTNA_ENST00000269190.7_Missense_Mutation_p.S684C|DTNA_ENST00000399121.5_Missense_Mutation_p.S630C|DTNA_ENST00000399113.3_Missense_Mutation_p.S683C|DTNA_ENST00000595022.1_Missense_Mutation_p.S623C|DTNA_ENST00000598334.1_Missense_Mutation_p.S623C|DTNA_ENST00000590831.2_Missense_Mutation_p.S109C|DTNA_ENST00000601125.1_Missense_Mutation_p.S305C|DTNA_ENST00000598142.1_Missense_Mutation_p.S626C|DTNA_ENST00000591182.1_Missense_Mutation_p.S331C|DTNA_ENST00000444659.1_Missense_Mutation_p.S683C|DTNA_ENST00000269192.7_Missense_Mutation_p.S392C|DTNA_ENST00000399097.3_Missense_Mutation_p.S331C|DTNA_ENST00000556414.3_Missense_Mutation_p.S335C	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	683					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	p.S331C(1)|p.S683C(1)|p.S684C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GTACATTCACAGTGGAGCTAC	0.453000													11	53					0	0	0.000978	0	0
ECT2	1894	broad.mit.edu	37	3	172474945	172474945	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:172474945A>G	ENST00000417960.1	+	5	857	c.380A>G	c.(379-381)cAa>cGa	p.Q127R	ECT2_ENST00000232458.5_Missense_Mutation_p.Q128R|ECT2_ENST00000427830.1_Missense_Mutation_p.Q128R|ECT2_ENST00000392692.3_Missense_Mutation_p.Q159R|ECT2_ENST00000441497.2_Missense_Mutation_p.Q128R|ECT2_ENST00000540509.1_Missense_Mutation_p.Q159R	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	128					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.Q128R(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AATTGTTCACAAAAAGGAGAG	0.279000													5	78					0	0	0.000602	0	0
TMEM40	55287	broad.mit.edu	37	3	12777078	12777078	+	Missense_Mutation	SNP	G	G	A	rs147042676		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:12777078G>A	ENST00000314124.7	-	11	1014	c.658C>T	c.(658-660)Ctc>Ttc	p.L220F	TMEM40_ENST00000435575.1_Missense_Mutation_p.L144F|TMEM40_ENST00000435218.2_Missense_Mutation_p.L190F|TMEM40_ENST00000264728.8_Missense_Mutation_p.L220F|TMEM40_ENST00000476331.1_5'UTR|TMEM40_ENST00000431022.2_Missense_Mutation_p.L236F	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	220						integral to membrane		p.L220F(1)		breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TTCTGGAAGAGGGGGATGAAG	0.463000													10	82					0	0	0.000978	0	0
OR2T4	127074	broad.mit.edu	37	1	248525656	248525656	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:248525656C>G	ENST00000366475.1	+	1	774	c.774C>G	c.(772-774)caC>caG	p.H258Q		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H258Q(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			TCACCATCCACGGGATGAACT	0.512000													29	203					0	0	0.008361	0	0
CENPP	401541	broad.mit.edu	37	9	95375392	95375392	+	Silent	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:95375392A>G	ENST00000375587.3	+	8	1343	c.828A>G	c.(826-828)gaA>gaG	p.E276E	CENPP_ENST00000375576.1_Silent_p.E90E|CENPP_ENST00000375579.3_Silent_p.E103E	NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	276					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm		p.E276E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						CTGCTCTGGAAAGCCTGATAA	0.473000													10	122					0	0	0.000978	0	0
ZFP37	7539	broad.mit.edu	37	9	115806314	115806314	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:115806314C>A	ENST00000374227.3	-	4	611	c.584G>T	c.(583-585)aGa>aTa	p.R195I	ZFP37_ENST00000555206.1_Missense_Mutation_p.R196I|ZFP37_ENST00000553380.1_Missense_Mutation_p.R210I			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	195						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R195I(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TACACAGTTTCTTGAGTGATC	0.323000													27	144					6.36457e-07	8.65999e-07	0.003954	1	0
GRIN2A	2903	broad.mit.edu	37	16	9934562	9934562	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:9934562C>A	ENST00000396573.2	-	8	1902	c.1593G>T	c.(1591-1593)acG>acT	p.T531T	GRIN2A_ENST00000330684.3_Silent_p.T531T|GRIN2A_ENST00000396575.2_Silent_p.T531T|GRIN2A_ENST00000562109.1_Silent_p.T531T|GRIN2A_ENST00000404927.2_Silent_p.T531T|GRIN2A_ENST00000535259.1_Silent_p.T374T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	531					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	p.T531T(2)		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)	CACTGATTCCCGTTTCCACAA	0.468000													8	54					0.000274275	0.000330884	0.004482	1	0
OR8U1	219417	broad.mit.edu	37	11	56143193	56143193	+	Silent	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:56143193T>C	ENST00000302270.1	+	1	94	c.94T>C	c.(94-96)Tta>Cta	p.L32L		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1									p.L32L(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					TGTGCTATTCTTATCCATCTA	0.443000													19	218					0	0	0.006122	0	0
EEFSEC	60678	broad.mit.edu	37	3	127983561	127983561	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:127983561G>T	ENST00000254730.6	+	4	777	c.723G>T	c.(721-723)atG>atT	p.M241I	EEFSEC_ENST00000483457.1_Intron	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	241						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	p.M241I(1)		NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GCACTGTGATGACAGGGACCA	0.562000													38	111					2.52637e-11	4.01703e-11	0.005524	1	0
FOLH1	2346	broad.mit.edu	37	11	49186290	49186290	+	Silent	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:49186290C>G	ENST00000340334.7	-	14	1730	c.1362G>C	c.(1360-1362)ctG>ctC	p.L454L	FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000343844.4_Silent_p.L161L|FOLH1_ENST00000533034.1_Silent_p.L454L|FOLH1_ENST00000256999.2_Silent_p.L469L|FOLH1_ENST00000356696.3_Silent_p.L469L	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	469	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.L469L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	AGCTGTACATCAGCGGTGTAC	0.279000													14	14					0	0	0.004990	0	0
TRIP13	9319	broad.mit.edu	37	5	916038	916038	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:916038G>T	ENST00000166345.3	+	12	1509	c.1153G>T	c.(1153-1155)Ggc>Tgc	p.G385C	TRIP13_ENST00000510412.1_3'UTR	NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	385					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity	p.G385C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			GGGCCTCAGCGGCCGGGTCCT	0.542000													14	306					2.61681e-11	4.14495e-11	0.002450	1	0
LARP1	23367	broad.mit.edu	37	5	154181811	154181811	+	Missense_Mutation	SNP	G	G	T	rs145327227		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:154181811G>T	ENST00000336314.4	+	11	1754	c.1730G>T	c.(1729-1731)cGc>cTc	p.R577L		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	654							protein binding|RNA binding	p.R654L(1)|p.R577L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CATTACATGCGCCGGCACCCA	0.537000													21	58					1.64293e-13	2.73274e-13	0.003330	1	0
COX10-AS1	100874058	broad.mit.edu	37	17	13927984	13927984	+	RNA	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:13927984C>A	ENST00000602743.1	-	0	224																											ACAGGACAGCCTGGGGCAGGC	0.597000													6	13					2.7689e-08	4.0038e-08	0.001984	1	0
ZBP1	81030	broad.mit.edu	37	20	56191346	56191346	+	Silent	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:56191346A>T	ENST00000340462.4	-	2	493	c.213T>A	c.(211-213)acT>acA	p.T71T	ZBP1_ENST00000395822.3_Intron|ZBP1_ENST00000343535.4_Silent_p.T71T|ZBP1_ENST00000541799.1_Silent_p.T71T|ZBP1_ENST00000371173.3_Silent_p.T71T|ZBP1_ENST00000538947.1_5'UTR			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	71						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding	p.T71T(2)		large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CTTCAGGATCAGTCCCGCCCA	0.612000													9	60					0	0	0.004482	0	0
CD5L	922	broad.mit.edu	37	1	157805936	157805936	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:157805936G>T	ENST00000368174.4	-	3	161	c.65C>A	c.(64-66)tCt>tAt	p.S22Y	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	22					apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	p.S22Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCGCACTCCAGATGGAGACGC	0.597000													6	59					0.00116845	0.00137464	0.001168	1	0
DDHD1	80821	broad.mit.edu	37	14	53570567	53570567	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:53570567A>C	ENST00000357758.3	-	2	1029	c.846T>G	c.(844-846)gaT>gaG	p.D282E	DDHD1_ENST00000323669.5_Missense_Mutation_p.D282E|DDHD1_ENST00000395606.1_Missense_Mutation_p.D282E	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	282					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	p.D282E(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CTGGTATTTTATCAGCCTCTG	0.358000													5	31					0	0	0.000602	0	0
FLNC	2318	broad.mit.edu	37	7	128496863	128496863	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:128496863C>T	ENST00000325888.8	+	45	7710	c.7449C>T	c.(7447-7449)aaC>aaT	p.N2483N	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.N2450N	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2483	Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.N2483N(2)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCAAGTTCAACGGTGCCCACA	0.597000													9	85					0	0	0.006214	0	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374413	95374413	+	RNA	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:95374413G>T	ENST00000494840.1	-	0	1448					NR_077228.1																						TCCTTGTCTGGAGAAAAAGCA	0.428000													17	55					1.67942e-08	2.45408e-08	0.006122	1	0
LSS	4047	broad.mit.edu	37	21	47611049	47611049	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr21:47611049T>A	ENST00000397728.3	-	22	2246	c.2168A>T	c.(2167-2169)tAc>tTc	p.Y723F	LSS_ENST00000457828.2_Missense_Mutation_p.Y643F|LSS_ENST00000522411.1_Missense_Mutation_p.Y712F|LSS_ENST00000356396.4_Missense_Mutation_p.Y723F	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	723					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	p.Y723F(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					TCTCTCAGGGTACAGCTGGGA	0.612000													7	57					0	0	0.001984	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560607	44560607	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:44560607G>C	ENST00000332567.4	-	1	1381	c.1029C>G	c.(1027-1029)gaC>gaG	p.D343E	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	343					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	p.D343E(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GAGTCTCTCGGTCGTTGGAAA	0.577000													19	75					0	0	0.007413	0	0
ALK	238	broad.mit.edu	37	2	29519836	29519836	+	Silent	SNP	T	T	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:29519836T>G	ENST00000389048.3	-	9	2641	c.1735A>C	c.(1735-1737)Agg>Cgg	p.R579R	ALK_ENST00000498037.1_5'UTR|ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	579	MAM 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.R579R(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CAGACCATCCTGCCTTGCTCC	0.567000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				11	35					0	0	0.000978	0	0
MAPRE2	10982	broad.mit.edu	37	18	32682021	32682021	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:32682021G>T	ENST00000436190.2	+	5	746	c.472G>T	c.(472-474)Gta>Tta	p.V158L	MAPRE2_ENST00000588910.1_Missense_Mutation_p.V170L|MAPRE2_ENST00000413393.1_Missense_Mutation_p.V127L|MAPRE2_ENST00000589699.1_Missense_Mutation_p.V127L|MAPRE2_ENST00000538170.2_Missense_Mutation_p.V117L|MAPRE2_ENST00000300249.5_Missense_Mutation_p.V170L	NM_001143827.2	NP_001137299.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	170	CH.				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding	p.V170L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						GTATGATCCTGTAGAGGCACG	0.463000													14	74					1.3612e-06	1.83409e-06	0.003163	1	0
ZNF280A	129025	broad.mit.edu	37	22	22868570	22868570	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:22868570G>A	ENST00000302097.3	-	2	1637	c.1385C>T	c.(1384-1386)aCg>aTg	p.T462M		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T462M(1)		endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CTCCTTCAACGTCAAAAACTG	0.423000													11	139					0	0	0.008291	0	0
SLC26A3	1811	broad.mit.edu	37	7	107432339	107432339	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:107432339C>A	ENST00000340010.5	-	4	502	c.318G>T	c.(316-318)ttG>ttT	p.L106F	SLC26A3_ENST00000422236.2_Missense_Mutation_p.L71F	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	106					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.L106F(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						AGGATGCATACAACCCATAGA	0.458000													25	87					7.38237e-10	1.12947e-09	0.006320	1	0
SEMA6D	80031	broad.mit.edu	37	15	48062872	48062872	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:48062872C>A	ENST00000316364.5	+	19	2551	c.2112C>A	c.(2110-2112)gcC>gcA	p.A704A	SEMA6D_ENST00000354744.4_Silent_p.A648A|SEMA6D_ENST00000389432.2_Silent_p.A661A|SEMA6D_ENST00000537942.1_Silent_p.A642A|SEMA6D_ENST00000389433.2_Silent_p.A685A|SEMA6D_ENST00000358066.4_Silent_p.A642A|SEMA6D_ENST00000536845.2_Silent_p.A704A|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389428.3_Silent_p.A629A|SEMA6D_ENST00000558014.1_Silent_p.A642A|SEMA6D_ENST00000355997.3_3'UTR	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	704					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.A704A(1)|p.A642A(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CAGAGTCCGCCCAGTCATGCA	0.438000													27	69					7.26314e-15	1.25071e-14	0.007291	1	0
KCNU1	157855	broad.mit.edu	37	8	36766906	36766906	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:36766906G>A	ENST00000399881.3	+	21	2221	c.2184G>A	c.(2182-2184)ccG>ccA	p.P728P		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	728	Segment S9.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.P728P(5)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACTCAGCCCCGATGGGGCTTC	0.468000													39	276					0	0	0.003214	0	0
TNC	3371	broad.mit.edu	37	9	117838396	117838396	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:117838396C>T	ENST00000350763.4	-	9	3276	c.2865G>A	c.(2863-2865)ctG>ctA	p.L955L	TNC_ENST00000345230.3_Silent_p.L955L|TNC_ENST00000341037.4_Silent_p.L955L|TNC_ENST00000346706.3_Silent_p.L955L|TNC_ENST00000535648.1_Silent_p.L955L|TNC_ENST00000340094.3_Silent_p.L955L|TNC_ENST00000537320.1_Silent_p.L955L|TNC_ENST00000542877.1_Silent_p.L955L|TNC_ENST00000423613.2_Silent_p.L955L	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	955	Fibronectin type-III 4.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.L955L(1)		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						TTCCCGGCCTCAGACCTAAGG	0.493000													21	96					0	0	0.001882	0	0
ACVR1B	91	broad.mit.edu	37	12	52369262	52369262	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:52369262A>G	ENST00000257963.4	+	2	382	c.305A>G	c.(304-306)aAc>aGc	p.N102S	ACVR1B_ENST00000542485.1_Missense_Mutation_p.N50S|ACVR1B_ENST00000541224.1_Missense_Mutation_p.N102S|ACVR1B_ENST00000426655.2_Missense_Mutation_p.N102S|ACVR1B_ENST00000415850.2_Missense_Mutation_p.N102S	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	102					G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	p.N102S(2)		breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GACTACTGCAACAGGATCGAC	0.562000													15	22					0	0	0.004007	0	0
ZKSCAN4	387032	broad.mit.edu	37	6	28217492	28217492	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:28217492G>C	ENST00000377294.2	-	2	787	c.544C>G	c.(544-546)Ctg>Gtg	p.L182V	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.L27V	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	182					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L182V(1)		endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TGGGATCCCAGAGATTCATGC	0.433000													14	135					0	0	0.001855	0	0
NFIC	4782	broad.mit.edu	37	19	3381731	3381731	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:3381731G>C	ENST00000589123.1	+	2	145	c.25G>C	c.(25-27)Gag>Cag	p.E9Q	NFIC_ENST00000586919.1_Missense_Mutation_p.E9Q|NFIC_ENST00000395111.3_Missense_Mutation_p.E9Q|NFIC_ENST00000346156.5_Missense_Mutation_p.E9Q|NFIC_ENST00000590282.1_Missense_Mutation_p.E18Q|NFIC_ENST00000341919.3_Missense_Mutation_p.E18Q|NFIC_ENST00000443272.2_Missense_Mutation_p.E18Q	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	18					DNA replication|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|sequence-specific DNA binding transcription factor activity	p.E9Q(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CCCGTTCATCGAGGCCCTGCT	0.657000													12	24					0	0	0.001368	0	0
POM121L12	285877	broad.mit.edu	37	7	53104242	53104242	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:53104242C>A	ENST00000408890.4	+	1	894	c.878C>A	c.(877-879)cCc>cAc	p.P293H		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	293								p.P293H(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TCTGCTGGCCCCTTTGGCTCC	0.607000													18	56					5.03518e-11	7.95281e-11	0.007413	1	0
PCDH18	54510	broad.mit.edu	37	4	138451090	138451090	+	Missense_Mutation	SNP	A	A	G	rs143055456	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:138451090A>G	ENST00000344876.4	-	1	2539	c.2153T>C	c.(2152-2154)gTg>gCg	p.V718A	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.V498A|PCDH18_ENST00000412923.2_Missense_Mutation_p.V718A|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	718					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V718A(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGCAAATAGCACCATAATAAC	0.443000													11	83					0	0	0.008291	0	0
FNDC3A	22862	broad.mit.edu	37	13	49777385	49777385	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:49777385C>T	ENST00000492622.2	+	25	3552	c.3247C>T	c.(3247-3249)Caa>Taa	p.Q1083*	FNDC3A_ENST00000398316.3_Nonsense_Mutation_p.Q1027*|FNDC3A_ENST00000541916.1_Nonsense_Mutation_p.Q1083*	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1083	Fibronectin type-III 9.					Golgi membrane|integral to membrane		p.Q1083*(1)		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)		TTACAGTCTTCAAGTTATGTT	0.323000													7	81					0	0	0.004482	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958771	57958771	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:57958771G>T	ENST00000311591.3	+	1	866	c.809G>T	c.(808-810)gGa>gTa	p.G270V		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G270V(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				TCCTCCGAGGGAGACCGAGTG	0.547000													27	94					2.50493e-22	4.66687e-22	0.004656	1	0
LINC00173	100287569	broad.mit.edu	37	12	116972455	116972455	+	RNA	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:116972455G>A	ENST00000480237.1	+	0	726					NR_027345.1													p.T8T(1)									CGTACAGCACGATGATTACAG	0.453000													7	69					0	0	0.003080	0	0
FGF18	8817	broad.mit.edu	37	5	170883614	170883614	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:170883614G>A	ENST00000274625.5	+	5	973	c.429G>A	c.(427-429)tcG>tcA	p.S143S		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	143					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	p.S143S(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCCTGATGTCGGCTAAGTACT	0.602000													14	97					0	0	0.003163	0	0
SYNE3	161176	broad.mit.edu	37	14	95910916	95910916	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:95910916T>A	ENST00000334258.5	-	9	1696	c.1682A>T	c.(1681-1683)cAg>cTg	p.Q561L	SYNE3_ENST00000553340.1_Missense_Mutation_p.Q561L|SYNE3_ENST00000554873.1_Missense_Mutation_p.Q318L|SYNE3_ENST00000557275.1_Missense_Mutation_p.Q561L	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3									p.Q561L(3)		breast(1)|endometrium(2)|lung(25)	28						GAGCTTCCTCTGCAGGGGCTC	0.577000													6	34					0	0	0.001168	0	0
NR0B1	190	broad.mit.edu	37	X	30327199	30327199	+	Silent	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:30327199C>G	ENST00000378970.4	-	1	516	c.282G>C	c.(280-282)ccG>ccC	p.P94P	NR0B1_ENST00000453287.1_Silent_p.P94P	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	94	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	p.P94P(1)		central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CGGGCGCCTTCGGTGCCGCGT	0.687000													3	31					0	0	0.004672	0	0
KCNAB1	7881	broad.mit.edu	37	3	156170725	156170725	+	Splice_Site	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:156170725G>T	ENST00000302490.8	+	3	1174	c.303_splice	c.e3+1	p.E101_splice	KCNAB1_ENST00000490337.1_Splice_Site_p.E119_splice|KCNAB1_ENST00000471742.1_Splice_Site_p.E108_splice|KCNAB1_ENST00000389636.5_Splice_Site_p.E119_splice|KCNAB1_ENST00000389634.5_Splice_Site_p.E101_splice	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	119						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.E119D(1)|p.E101D(1)|p.E108D(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTTCAGATGAGGTAAGTTACC	0.368000													43	168					2.01807e-28	3.91812e-28	0.003610	1	0
LRRC8A	56262	broad.mit.edu	37	9	131670448	131670448	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:131670448C>G	ENST00000259324.5	+	3	1528	c.1005C>G	c.(1003-1005)atC>atG	p.I335M	LRRC8A_ENST00000372599.3_Missense_Mutation_p.I335M|LRRC8A_ENST00000372600.4_Missense_Mutation_p.I335M	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	335					pre-B cell differentiation	integral to membrane		p.I335M(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						ACGGCCTCATCTGCATGTATA	0.572000													6	104					0	0	0.001168	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110448582	110448582	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:110448582C>T	ENST00000378402.5	+	30	3625	c.3521C>T	c.(3520-3522)aCt>aTt	p.T1174I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1174	IPT/TIG 5.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.T1176I(1)		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)			ACTCTACTGACTTTATCTGGA	0.318000										HNSCC(38;0.096)			23	74					0	0	0.003954	0	0
PDXDC1	23042	broad.mit.edu	37	16	15111246	15111246	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:15111246G>T	ENST00000396410.4	+	11	1027	c.930G>T	c.(928-930)gcG>gcT	p.A310A	PDXDC1_ENST00000569715.1_Silent_p.A283A|PDXDC1_ENST00000455313.2_Silent_p.A287A|PDXDC1_ENST00000450288.2_Silent_p.A282A|PDXDC1_ENST00000447912.2_Silent_p.A219A|PDXDC1_ENST00000563679.1_Silent_p.A328A|PDXDC1_ENST00000535621.2_Silent_p.A310A|PDXDC1_ENST00000325823.7_Silent_p.A295A	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	310					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	p.A310A(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CTGTTCCTGCGGTGACACTGT	0.498000													12	162					0.000422831	0.000507887	0.004007	1	0
OR5K1	26339	broad.mit.edu	37	3	98188929	98188929	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:98188929G>C	ENST00000332650.5	+	1	606	c.509G>C	c.(508-510)gGa>gCa	p.G170A		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G170A(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTTTTCTGTGGATCGAATCAC	0.398000													22	265					0	0	0.002299	0	0
SLIT3	6586	broad.mit.edu	37	5	168151447	168151447	+	Silent	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:168151447C>G	ENST00000519560.1	-	21	2732	c.2313G>C	c.(2311-2313)ctG>ctC	p.L771L	SLIT3_ENST00000332966.8_Silent_p.L771L|SLIT3_ENST00000404867.3_Silent_p.L771L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	771					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.L771L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAGGGCGGACAGCTCTCTGG	0.517000													4	55					0	0	0.001984	0	0
P4HTM	54681	broad.mit.edu	37	3	49044234	49044234	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:49044234C>A	ENST00000343546.4	+	9	1954	c.1586C>A	c.(1585-1587)gCg>gAg	p.A529E	P4HTM_ENST00000383729.4_Missense_Mutation_p.A468E	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	468						endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.A529E(1)|p.A468E(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	GCGCGGCAAGCGCTGTTCCAA	0.662000													5	43					2.7689e-08	4.0038e-08	0.001984	1	0
SYNPO2	171024	broad.mit.edu	37	4	119951646	119951646	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:119951646G>A	ENST00000307142.4	+	4	1912	c.1716G>A	c.(1714-1716)ggG>ggA	p.G572G	SYNPO2_ENST00000434046.2_Silent_p.G572G|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Silent_p.G572G	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	572						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						GCTTCAGTGGGACATCTGAGA	0.532000													4	88					0	0	0.000602	0	0
ANO4	121601	broad.mit.edu	37	12	101505439	101505439	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:101505439T>A	ENST00000392979.3	+	23	2657	c.2296T>A	c.(2296-2298)Tat>Aat	p.Y766N	ANO4_ENST00000392977.3_Missense_Mutation_p.Y801N|ANO4_ENST00000299222.9_Missense_Mutation_p.Y321N|ANO4_ENST00000550015.1_Missense_Mutation_p.Y321N	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	801						chloride channel complex	chloride channel activity	p.Y766N(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TCGCTTGGTGTATGCTTATAA	0.383000										HNSCC(74;0.22)			9	55					0	0	0.000978	0	0
FAM83G	644815	broad.mit.edu	37	17	18881367	18881367	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:18881367C>A	ENST00000388995.6	-	5	1835	c.1612G>T	c.(1612-1614)Ggg>Tgg	p.G538W	SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.G538W|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.G538W|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	538								p.G538W(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TGGTCTGTCCCATTCTGGGGA	0.647000													29	53					6.38683e-12	1.02634e-11	0.008361	1	0
ACN9	57001	broad.mit.edu	37	7	96747046	96747046	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:96747046G>A	ENST00000432641.2	+	1	1145	c.11G>A	c.(10-12)cGg>cAg	p.R4Q	ACN9_ENST00000360382.4_Missense_Mutation_p.R4Q	NM_020186.2	NP_064571.1	Q9NRP4	ACN9_HUMAN	ACN9 homolog (S. cerevisiae)	4					regulation of gluconeogenesis	mitochondrial intermembrane space		p.R4Q(1)		large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					ATGCCGGGGCGGCACGTTTCT	0.647000													30	76					0	0	0.004289	0	0
NT5C1A	84618	broad.mit.edu	37	1	40128985	40128985	+	Splice_Site	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:40128985C>A	ENST00000235628.1	-	4	554	c.556_splice	c.e4+1	p.E185_splice		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	185					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	p.E185D(1)		breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TAGACTTACCCTCATCAATGG	0.552000													20	90					5.35356e-11	8.42361e-11	0.002780	1	0
TPM1	7168	broad.mit.edu	37	15	63363340	63363340	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:63363340A>T	ENST00000357980.4	+	10	1029	c.950A>T	c.(949-951)gAt>gTt	p.D317V	TPM1_ENST00000267996.7_Missense_Mutation_p.D275V|RP11-244F12.2_ENST00000558905.1_RNA|TPM1_ENST00000404484.4_Missense_Mutation_p.D239V|TPM1_ENST00000358278.3_Missense_Mutation_p.D275V|TPM1_ENST00000559556.1_Missense_Mutation_p.D275V|TPM1_ENST00000559397.1_Missense_Mutation_p.D275V			P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	275					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle	p.D275V(2)		endometrium(1)|large_intestine(1)|lung(2)	4						CAGATGCTGGATCAGACTTTA	0.393000													22	59					0	0	0.002780	0	0
KIAA0907	22889	broad.mit.edu	37	1	155891679	155891679	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:155891679G>C	ENST00000368320.3	-	9	1010	c.985C>G	c.(985-987)Cag>Gag	p.Q329E	KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q329E|KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368319.3_Missense_Mutation_p.Q329E			Q7Z7F0	K0907_HUMAN	KIAA0907	329								p.Q329E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GTATTAATCTGATTCACAAAT	0.368000													3	39					0	0	0.000248	0	0
FAM81A	145773	broad.mit.edu	37	15	59752207	59752207	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:59752207G>T	ENST00000288228.5	+	3	283	c.96G>T	c.(94-96)caG>caT	p.Q32H		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	32								p.Q29H(1)		endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						TCGTGGAGCAGCTGGAAGACA	0.542000													10	14					1.11149e-13	1.85995e-13	0.008291	1	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342173	60342173	+	RNA	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:60342173G>T	ENST00000581291.1	-	0	1980																				breast(2)|kidney(1)|lung(2)	5						CGATGGTCGTGGGGCTGGGGG	0.498000													6	13					8.12818e-05	0.000100244	0.001984	1	0
LCE2D	353141	broad.mit.edu	37	1	152636662	152636662	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:152636662G>A	ENST00000368784.1	+	2	136	c.81G>A	c.(79-81)aaG>aaA	p.K27K		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	27	Cys-rich.				keratinization			p.K27K(1)		large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCACCTAAGTGTCCCCCCA	0.582000													60	96					0	0	0.003610	0	0
POU6F2	11281	broad.mit.edu	37	7	39500316	39500316	+	Splice_Site	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:39500316T>A	ENST00000518318.2	+	9	1613		c.e9+2		POU6F2_ENST00000403058.1_Splice_Site|POU6F2_ENST00000559001.1_Splice_Site			P78424	PO6F2_HUMAN	POU class 6 homeobox 2						central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.?(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CATCTGCAGGTAACGCGCGCC	0.627000													6	9					0	0	0.003080	0	0
TRIM67	440730	broad.mit.edu	37	1	231344888	231344888	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:231344888G>T	ENST00000444294.3	+	8	2867	c.2009G>T	c.(2008-2010)aGg>aTg	p.R670M	TRIM67_ENST00000449018.3_Missense_Mutation_p.R610M|TRIM67_ENST00000366652.2_Missense_Mutation_p.R672M|TRIM67_ENST00000366653.5_Missense_Mutation_p.R672M	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	672	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding	p.R672M(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GGGGTGGCCAGGGCCAGCGTG	0.627000													19	101					3.51602e-12	5.68868e-12	0.008871	1	0
NKAIN2	154215	broad.mit.edu	37	6	125139561	125139561	+	Silent	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:125139561T>C	ENST00000368417.1	+	6	624	c.564T>C	c.(562-564)taT>taC	p.Y188Y	NKAIN2_ENST00000546092.1_Silent_p.Y121Y|NKAIN2_ENST00000545433.1_Silent_p.Y173Y	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	188						integral to membrane|plasma membrane		p.Y188Y(1)		cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		TTGACTCTTATGGCTATCAAG	0.373000													5	70					0	0	0.001168	0	0
C1orf173	127254	broad.mit.edu	37	1	75037751	75037751	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:75037751C>A	ENST00000326665.5	-	14	3861	c.3643G>T	c.(3643-3645)Gcc>Tcc	p.A1215S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1215	Glu-rich.							p.A1215S(1)		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						GCTGCTAAGGCCCCCTCTCCA	0.597000													28	96					4.87955e-14	8.20675e-14	0.005443	1	0
VWA9	81556	broad.mit.edu	37	15	65888105	65888105	+	Silent	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:65888105G>C	ENST00000395644.4	-	7	1142	c.807C>G	c.(805-807)tcC>tcG	p.S269S	VWA9_ENST00000442903.3_Silent_p.S233S|VWA9_ENST00000431261.2_Silent_p.S190S|VWA9_ENST00000569491.1_Silent_p.S220S|VWA9_ENST00000313182.2_Silent_p.S269S|VWA9_ENST00000567744.1_Silent_p.S305S|VWA9_ENST00000420799.2_Silent_p.S212S					von Willebrand factor A domain containing 9									p.S269S(1)									CCAGATGTCTGGACAGAACTG	0.353000													12	35					0	0	0.002450	0	0
F9	2158	broad.mit.edu	37	X	138623303	138623303	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:138623303G>A	ENST00000218099.2	+	4	353	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	F9_ENST00000479617.1_3'UTR|F9_ENST00000394090.2_Intron	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	116	EGF-like 1; calcium-binding (Potential).				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	p.E116K(1)		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)	TAATTCCTATGAATGTTGGTG	0.368000													4	49					0	0	0.000248	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76482812	76482812	+	Silent	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:76482812A>G	ENST00000307431.8	+	7	1273	c.888A>G	c.(886-888)gcA>gcG	p.A296A	CNTNAP4_ENST00000377504.4_Silent_p.A296A|CNTNAP4_ENST00000476707.1_Silent_p.A300A|CNTNAP4_ENST00000478060.1_Silent_p.A272A|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	297	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.A272A(2)|p.A296A(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ATTTCCATGCACGGGGAGAAT	0.418000													5	31					0	0	0.001168	0	0
RBL1	5933	broad.mit.edu	37	20	35661274	35661274	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:35661274C>T	ENST00000373664.3	-	16	2242	c.2176G>A	c.(2176-2178)Gca>Aca	p.A726T	RBL1_ENST00000344359.3_Missense_Mutation_p.A726T	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	726	Pocket; binds T and E1A.|Spacer.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	p.A726T(1)		NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				GCATCATTTGCGACACCTGAA	0.328000													33	110					0	0	0.003271	0	0
APOC3	345	broad.mit.edu	37	11	116701533	116701533	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:116701533G>T	ENST00000375345.1	+	3	216	c.154G>T	c.(154-156)Ggt>Tgt	p.G52C	APOC3_ENST00000470144.1_3'UTR|APOC3_ENST00000227667.3_Missense_Mutation_p.G34C			P02656	APOC3_HUMAN	apolipoprotein C-III	34				ES -> SQ (in Ref. 8; AA sequence).	Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly	chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding	p.G34C(1)		endometrium(1)|lung(6)	7	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CTTCATGCAGGGTTACATGAA	0.642000													9	43					1.76689e-08	2.56385e-08	0.006214	1	0
HNRNPH1	3187	broad.mit.edu	37	5	179050070	179050070	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:179050070C>T	ENST00000356731.5	-	1	1600	c.65G>A	c.(64-66)tGc>tAc	p.C22Y	HNRNPH1_ENST00000442819.2_Missense_Mutation_p.C22Y|HNRNPH1_ENST00000510411.1_Missense_Mutation_p.C22Y|HNRNPH1_ENST00000524180.1_5'UTR|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.C22Y|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.C22Y			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	22	RRM 1.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding	p.C22Y(3)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						ATCGGCCGAGCAAGACCAGGG	0.627000													18	41					0	0	0.006122	0	0
APOBEC3B	9582	broad.mit.edu	37	22	39385550	39385550	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:39385550G>T	ENST00000402182.3	+	5	713	c.658G>T	c.(658-660)Gtg>Ttg	p.V220L	APOBEC3B_ENST00000333467.3_Missense_Mutation_p.V220L|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.V220L			Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	220					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding	p.V220L(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					GTGCTATGAGGTGGAGCGCCT	0.547000													10	68					0.000442599	0.000529715	0.006214	1	0
HNF4A	3172	broad.mit.edu	37	20	43052943	43052943	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:43052943G>C	ENST00000443598.2	+	8	1267	c.1178G>C	c.(1177-1179)gGa>gCa	p.G393A	HNF4A_ENST00000457232.1_Intron|HNF4A_ENST00000415691.1_Intron|HNF4A_ENST00000316099.3_Intron	NM_001030004.2|NM_178850.2	NP_001025175.1|NP_849181.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	380					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.G393A(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			gactccccaggagacaggcct	0.607000													5	15					0	0	0.001168	0	0
CSMD3	114788	broad.mit.edu	37	8	113348947	113348947	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:113348947C>T	ENST00000297405.5	-	44	7197	c.6953G>A	c.(6952-6954)gGg>gAg	p.G2318E	CSMD3_ENST00000343508.3_Missense_Mutation_p.G2278E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2248E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2214E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2318	CUB 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GATGCCATTCCCAGGGGGTAC	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	176					0	0	0.000602	0	0
PTPN14	5784	broad.mit.edu	37	1	214537914	214537914	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:214537914C>T	ENST00000366956.5	-	18	3570	c.3376G>A	c.(3376-3378)Gga>Aga	p.G1126R	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1126	Substrate (By similarity).|Substrate binding (By similarity).|Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CCGGTCCTTCCCACCCCAGCA	0.567000													4	89					0	0	0.000602	0	0
CLDN10	9071	broad.mit.edu	37	13	96230256	96230256	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:96230256T>A	ENST00000376873.3	+	5	899	c.669T>A	c.(667-669)aaT>aaA	p.N223K	CLDN10_ENST00000299339.2_Missense_Mutation_p.N225K	NM_001160100.1|NM_182848.3	NP_001153572.1|NP_878268.1	P78369	CLD10_HUMAN	claudin 10	225					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.N225K(1)|p.N223K(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			TTGATAAAAATGCTTATGTCT	0.403000													6	27					0	0	0.001168	0	0
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N														p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000													6	52					0	0	0.006214	0	0
SLC15A4	121260	broad.mit.edu	37	12	129294610	129294610	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:129294610C>G	ENST00000266771.5	-	3	928	c.889G>C	c.(889-891)Gat>Cat	p.D297H	SLC15A4_ENST00000539703.1_Intron|SLC15A4_ENST00000544112.1_5'UTR	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	297					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	p.D297H(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		TTACATGAATCAAACAGACTT	0.393000													7	77					0	0	0.004482	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508538	37508538	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:37508538C>A	ENST00000374660.1	+	40	4186	c.4087C>A	c.(4087-4089)Cac>Aac	p.H1363N	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.H1244N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.H1244N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1300						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.H1244N(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						GGAAGCTGAACACATGTATCA	0.368000													8	25					3.09899e-07	4.25502e-07	0.004482	1	0
SPAG1	6674	broad.mit.edu	37	8	101232595	101232595	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:101232595G>A	ENST00000388798.2	+	13	1815	c.1624G>A	c.(1624-1626)Gtg>Atg	p.V542M	SPAG1_ENST00000251809.3_Missense_Mutation_p.V542M|SPAG1_ENST00000523302.1_Intron	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	542					single fertilization	cytoplasm	GTP binding|hydrolase activity	p.V542M(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GAAAGCTTATGTGGATTATAA	0.428000													6	101					0	0	0.001168	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279690	47279690	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:47279690G>T	ENST00000271153.4	+	6	763	c.727G>T	c.(727-729)Ggc>Tgc	p.G243C	CYP4B1_ENST00000371919.4_Missense_Mutation_p.G229C|CYP4B1_ENST00000371923.4_Missense_Mutation_p.G244C|CYP4B1_ENST00000452782.2_Missense_Mutation_p.G81C			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	243					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.G243S(1)|p.G243C(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CACCCCACATGGCCGCCGCTT	0.592000													31	106					9.04072e-19	1.63838e-18	0.003271	1	0
DNAH9	1770	broad.mit.edu	37	17	11726227	11726227	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:11726227C>A	ENST00000262442.3	+	48	9190	c.9122C>A	c.(9121-9123)cCc>cAc	p.P3041H	DNAH9_ENST00000454412.2_Missense_Mutation_p.P3041H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3041					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.P3041H(1)		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)		TATACAACTCCCAAGTCCTTT	0.478000													30	55					5.45727e-16	9.55598e-16	0.008361	1	0
SCN10A	6336	broad.mit.edu	37	3	38768446	38768446	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:38768446G>T	ENST00000449082.2	-	16	2737	c.2738C>A	c.(2737-2739)gCc>gAc	p.A913D		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	913					sensory perception	voltage-gated sodium channel complex		p.A913D(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCGTGCCAGGGCCACCTGCAG	0.582000													31	99					1.22384e-17	2.19629e-17	0.002836	1	0
SCN11A	11280	broad.mit.edu	37	3	38888221	38888221	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:38888221G>C	ENST00000302328.3	-	26	5538	c.5340C>G	c.(5338-5340)agC>agG	p.S1780R	SCN11A_ENST00000456224.3_Missense_Mutation_p.S1742R|SCN11A_ENST00000450244.1_Missense_Mutation_p.S1780R	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1780					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S1780R(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CCACCCCAAAGCTAGACAAGT	0.547000													13	70					0	0	0.001368	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55063006	55063006	+	RNA	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:55063006C>A	ENST00000526016.1	-	0	631					NR_038174.2																						TAAAAGCTCCCTGGAATGTTC	0.428000													12	47					7.03913e-09	1.0433e-08	0.001368	1	0
TXNRD2	10587	broad.mit.edu	37	22	19864759	19864759	+	Splice_Site	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:19864759T>A	ENST00000400519.1	-	17	1442		c.e17-2		TXNRD2_ENST00000535882.1_Splice_Site|TXNRD2_ENST00000400525.1_Splice_Site|TXNRD2_ENST00000400518.1_Splice_Site|TXNRD2_ENST00000542719.1_Splice_Site|TXNRD2_ENST00000400521.1_Splice_Site			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2						cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	p.?(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					GCCCCACACCTGCACATGGGG	0.657000													6	23					0	0	0.001984	0	0
RNF216	54476	broad.mit.edu	37	7	5680851	5680851	+	Missense_Mutation	SNP	T	T	A	rs141635295		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:5680851T>A	ENST00000425013.2	-	15	2369	c.2145A>T	c.(2143-2145)caA>caT	p.Q715H	RNF216_ENST00000389902.3_Missense_Mutation_p.Q772H|RNF216_ENST00000469375.1_5'UTR	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	715					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	p.Q772H(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		AGCGGGGATGTTGGCAGAAAT	0.507000													38	67					0	0	0.006230	0	0
CNNM1	26507	broad.mit.edu	37	10	101090517	101090517	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:101090517G>T	ENST00000356713.4	+	1	1662	c.1373G>T	c.(1372-1374)cGc>cTc	p.R458L	CNNM1_ENST00000446890.1_Missense_Mutation_p.R387L|CNNM1_ENST00000370534.4_Missense_Mutation_p.R93L|CNNM1_ENST00000370528.3_Missense_Mutation_p.R387L	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	458	CBS 1.				ion transport	integral to membrane|plasma membrane		p.R93L(1)|p.R458L(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		GAGATCCTGCGCAGCGGCTAC	0.597000													9	28					4.68919e-08	6.70461e-08	0.008291	1	0
WDR16	146845	broad.mit.edu	37	17	9546502	9546502	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:9546502C>A	ENST00000352665.5	+	14	1919	c.1850C>A	c.(1849-1851)cCa>cAa	p.P617Q	RP11-55L4.2_ENST00000584676.1_RNA|WDR16_ENST00000299764.5_Missense_Mutation_p.P627Q|WDR16_ENST00000396219.3_Missense_Mutation_p.P549Q	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	617						cytoplasm|intracellular membrane-bounded organelle	protein binding	p.P617Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TGGAAGTACCCATATACCTCC	0.463000													22	79					3.01185e-09	4.51234e-09	0.003954	1	0
NRG3	10718	broad.mit.edu	37	10	84498377	84498377	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:84498377C>A	ENST00000372142.2	+	4	609	c.335C>A	c.(334-336)cCg>cAg	p.P112Q	NRG3_ENST00000404547.1_Missense_Mutation_p.P333Q|NRG3_ENST00000372141.2_Missense_Mutation_p.P333Q|NRG3_ENST00000556918.1_Missense_Mutation_p.P163Q|NRG3_ENST00000404576.2_Missense_Mutation_p.P137Q	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	333	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.P333Q(1)|p.P112Q(1)		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)		CAATTTCTGCCGAAAACTGAT	0.398000													16	51					1.99824e-07	2.77347e-07	0.004990	1	0
CDH9	1007	broad.mit.edu	37	5	26881389	26881389	+	Silent	SNP	C	C	T	rs147182231		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:26881389C>T	ENST00000231021.4	-	12	2398	c.2226G>A	c.(2224-2226)ggG>ggA	p.G742G		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	742					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G742G(2)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGGAATCATTCCCTTCATAGG	0.418000													6	130					0	0	0.001984	0	0
KCNA6	3742	broad.mit.edu	37	12	4919849	4919849	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:4919849C>T	ENST00000433855.1	+	1	1508	c.642C>T	c.(640-642)gtC>gtT	p.V214V	KCNA6_ENST00000280684.3_Silent_p.V214V	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	214						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TGAGTCGAGTCTCCCCAGTTT	0.532000										HNSCC(72;0.22)			4	79					0	0	0.000248	0	0
CASQ1	844	broad.mit.edu	37	1	160165750	160165750	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:160165750C>A	ENST00000368079.3	+	6	972	c.697C>A	c.(697-699)Cct>Act	p.P233T	CASQ1_ENST00000368078.3_Missense_Mutation_p.P239T	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	239						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding	p.P233T(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATGGAAGAGCCTGTGACCAT	0.567000													34	69					6.00712e-18	1.08037e-17	0.002445	1	0
TUBA3C	7278	broad.mit.edu	37	13	19752452	19752452	+	Nonsense_Mutation	SNP	G	G	T	rs114178008		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:19752452G>T	ENST00000400113.3	-	3	413	c.309C>A	c.(307-309)taC>taA	p.Y103*		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	103					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.Y103*(1)		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)		GGCCTCTGGCGTAATTATTGG	0.527000													15	131					3.27435e-08	4.706e-08	0.002450	1	0
SEMA4D	10507	broad.mit.edu	37	9	91994133	91994133	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:91994133G>C	ENST00000450295.1	-	16	2851	c.2075C>G	c.(2074-2076)tCc>tGc	p.S692C	SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000356444.2_Missense_Mutation_p.S692C|SEMA4D_ENST00000422704.2_Missense_Mutation_p.S692C|SEMA4D_ENST00000438547.2_Missense_Mutation_p.S692C			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	692					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	p.S692C(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GATGGCCCCGGAGGAGGTGGC	0.602000													4	73					0	0	0.000248	0	0
SLC39A12	221074	broad.mit.edu	37	10	18242230	18242230	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:18242230G>T	ENST00000377369.2	+	2	298	c.25G>T	c.(25-27)Gta>Tta	p.V9L	SLC39A12_ENST00000539911.1_Intron|SLC39A12_ENST00000377374.4_Missense_Mutation_p.V9L|SLC39A12_ENST00000377371.3_Missense_Mutation_p.V9L	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	9					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.V9L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AAAGCTCTCAGTATCCTGGGT	0.507000													38	81					8.73648e-17	1.54776e-16	0.004289	1	0
AP1G1	164	broad.mit.edu	37	16	71779116	71779116	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:71779116C>T	ENST00000299980.4	-	19	2371	c.1930G>A	c.(1930-1932)Gcg>Acg	p.A644T	AP1G1_ENST00000393512.3_Missense_Mutation_p.A647T|AP1G1_ENST00000423132.2_Missense_Mutation_p.A647T|AP1G1_ENST00000569748.1_Missense_Mutation_p.A644T|AP1G1_ENST00000564155.1_Missense_Mutation_p.A69T|AP1G1_ENST00000433195.2_Missense_Mutation_p.A667T	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	644					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|recycling endosome	kinesin binding|protein transporter activity	p.A644T(1)		breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				CTTGTAGGCGCAGTTGGAATA	0.408000													18	84					0	0	0.006122	0	0
DCBLD1	285761	broad.mit.edu	37	6	117841007	117841007	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:117841007C>T	ENST00000338728.5	+	3	474	c.354C>T	c.(352-354)ccC>ccT	p.P118P	DCBLD1_ENST00000368503.4_Silent_p.P118P|DCBLD1_ENST00000296955.8_Silent_p.P118P|GOPC_ENST00000467125.1_Intron			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	118	CUB.				cell adhesion	integral to membrane		p.P118P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		TGACTGTTCCCAAAGAACTCT	0.438000													8	73					0	0	0.004482	0	0
HTR1A	3350	broad.mit.edu	37	5	63256918	63256918	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:63256918A>T	ENST00000323865.3	-	1	862	c.629T>A	c.(628-630)cTc>cAc	p.L210H	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	210					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.L210H(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AACCAGCATGAGCAGCAGCGG	0.577000													68	126					0	0	0.003610	0	0
PDGFD	80310	broad.mit.edu	37	11	103780531	103780531	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:103780531G>T	ENST00000302251.5	-	7	1437	c.986C>A	c.(985-987)cCt>cAt	p.P329H	PDGFD_ENST00000393158.2_Missense_Mutation_p.P335H	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	335					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	p.P335H(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GATGTGGCCAGGCTCAAACTG	0.453000													41	137					1.76056e-25	3.35922e-25	0.002852	1	0
NPLOC4	55666	broad.mit.edu	37	17	79573732	79573732	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:79573732G>C	ENST00000374747.5	-	7	768	c.639C>G	c.(637-639)atC>atG	p.I213M	NPLOC4_ENST00000331134.6_Missense_Mutation_p.I213M|NPLOC4_ENST00000574344.1_5'UTR|NPLOC4_ENST00000539314.1_Missense_Mutation_p.I52M			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	213					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding	p.I213M(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TGTTCAGCGTGATGGCGCTCG	0.522000													10	57					0	0	0.008291	0	0
HRNR	388697	broad.mit.edu	37	1	152187624	152187624	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:152187624G>T	ENST00000368801.2	-	3	6556	c.6481C>A	c.(6481-6483)Cag>Aag	p.Q2161K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2161					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCCATGCTGACCATAGCGG	0.617000													41	2761					1.08611e-07	1.52147e-07	0.000978	1	0
PLA2G2A	5320	broad.mit.edu	37	1	20304510	20304510	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:20304510C>A	ENST00000375111.3	-	5	561	c.290G>T	c.(289-291)tGt>tTt	p.C97F	PLA2G2A_ENST00000400520.3_Missense_Mutation_p.C97F|PLA2G2A_ENST00000496748.1_5'UTR	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	97					defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding	p.C97F(1)		central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|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;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCTTACCACAGGTGATTCT	0.502000													16	78					0.000422831	0.000507887	0.004007	1	0
SSPO	23145	broad.mit.edu	37	7	149509187	149509187	+	RNA	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:149509187C>G	ENST00000378016.2	+	0	9733							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGAGCCATGTCTCCTGCAGGG	0.687000													4	56					0	0	0.000602	0	0
OR6B2	389090	broad.mit.edu	37	2	240969557	240969557	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:240969557C>A	ENST00000402971.2	-	1	349	c.290G>T	c.(289-291)tGc>tTc	p.C97F		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C97F(1)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CTGCGTCATGCACCCGACGAA	0.587000													14	31					1.67942e-08	2.45408e-08	0.006122	1	0
CRB1	23418	broad.mit.edu	37	1	197446847	197446847	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:197446847C>T	ENST00000367400.3	+	12	4194	c.4059C>T	c.(4057-4059)gtC>gtT	p.V1353V	CRB1_ENST00000538660.1_Silent_p.V817V|CRB1_ENST00000544212.1_Silent_p.V834V|CRB1_ENST00000367399.2_Silent_p.V1241V|CRB1_ENST00000535699.1_Silent_p.V1329V	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1353					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.V1353V(2)		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						CAGTGACTGTCGCCTTGTTAC	0.483000													6	76					0	0	0.001168	0	0
C8B	732	broad.mit.edu	37	1	57415296	57415296	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:57415296G>A	ENST00000543257.1	-	7	1206	c.640C>T	c.(640-642)Ctt>Ttt	p.L214F	C8B_ENST00000535057.1_Missense_Mutation_p.L204F|C8B_ENST00000371237.4_Missense_Mutation_p.L266F	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	266	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.L266F(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CTGATGCCAAGTTCAAATATT	0.353000													4	62					0	0	0.000248	0	0
HNRNPDL	9987	broad.mit.edu	37	4	83347646	83347646	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:83347646C>A	ENST00000295470.5	-	6	1337	c.1162G>T	c.(1162-1164)Gga>Tga	p.G388*	HNRNPDL_ENST00000602300.1_Nonsense_Mutation_p.G269*|HNRNPDL_ENST00000349655.4_Intron|HNRNPDL_ENST00000502762.1_Nonsense_Mutation_p.G388*|HNRNPDL_ENST00000514511.1_5'UTR	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1			heterogeneous nuclear ribonucleoprotein D-like									p.G388*(1)									TGTCCATATCCATAGTTCCCA	0.338000													9	95					1.58986e-06	2.1318e-06	0.008291	1	0
DAXX	1616	broad.mit.edu	37	6	33287597	33287597	+	Silent	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:33287597T>C	ENST00000374542.5	-	6	1704	c.1500A>G	c.(1498-1500)ctA>ctG	p.L500L	DAXX_ENST00000266000.6_Silent_p.L500L|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_Silent_p.L425L	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	500	Asp/Glu-rich (acidic).|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	p.L500L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TGGAGATCTGTAGTGAGGACA	0.478000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								27	53					0	0	0.005443	0	0
CYP3A43	64816	broad.mit.edu	37	7	99463537	99463537	+	Nonstop_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:99463537G>T	ENST00000312017.5	+	12	1262	c.1262G>T	c.(1261-1263)tGa>tTa	p.*421L	CYP3A43_ENST00000354829.2_Silent_p.L475L|CYP3A43_ENST00000417625.1_Silent_p.L365L|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000415413.1_Silent_p.L264L|CYP3A43_ENST00000222382.5_Silent_p.L476L|CYP3A43_ENST00000342499.4_Nonstop_Mutation_p.*281L|CYP3A43_ENST00000444905.1_Nonstop_Mutation_p.*168L	NM_057096.2	NP_476437.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	0			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.L476L(1)		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)	AGATCCCACTGAAATTAGACA	0.343000													4	35					0.00024832	0.000300665	0.000248	1	0
HAUS6	54801	broad.mit.edu	37	9	19078172	19078172	+	Splice_Site	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:19078172A>C	ENST00000380502.3	-	10	1659		c.e10+1		HAUS6_ENST00000380496.1_Splice_Site	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6						cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		p.?(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AACATTACTTACTGGAGTCCA	0.433000													27	57					0	0	0.007291	0	0
OR4D10	390197	broad.mit.edu	37	11	59245584	59245584	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:59245584C>G	ENST00000530162.1	+	1	739	c.682C>G	c.(682-684)Cag>Gag	p.Q228E		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q228E(1)|p.Q226E(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACCCAAGTCTCAGGCAGGAGA	0.507000													13	111					0	0	0.001855	0	0
SNHG14	104472715	broad.mit.edu	37	15	25427691	25427691	+	RNA	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:25427691C>T	ENST00000424208.1	+	0	272					NR_003305.1																						TGGCTGGAGACCTGGAGGCCC	0.602000													11	83					0	0	0.008291	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745190	140745190	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:140745190C>A	ENST00000518069.1	+	1	1293	c.1293C>A	c.(1291-1293)ccC>ccA	p.P431P	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1												p.P431P(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACCCCGCCCCTCTCTACAG	0.448000													31	78					4.16155e-14	7.01337e-14	0.008740	1	0
TMEM200A	114801	broad.mit.edu	37	6	130761821	130761821	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:130761821C>A	ENST00000392429.1	+	2	2632	c.254C>A	c.(253-255)cCc>cAc	p.P85H	TMEM200A_ENST00000545622.1_Missense_Mutation_p.P85H|TMEM200A_ENST00000296978.3_Missense_Mutation_p.P85H	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	85						integral to membrane		p.P85H(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GGATATTGGCCCCAAAAAGAA	0.423000													5	95					3.59834e-05	4.50131e-05	0.001168	1	0
FAT4	79633	broad.mit.edu	37	4	126336493	126336493	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:126336493G>T	ENST00000394329.3	+	5	6388	c.6375G>T	c.(6373-6375)gtG>gtT	p.V2125V	FAT4_ENST00000335110.5_Silent_p.V423V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2125	Cadherin 20.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V2125V(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAACAGTGGTGGCTACAGACA	0.418000													19	84					6.49762e-13	1.06476e-12	0.006122	1	0
ZNF746	155061	broad.mit.edu	37	7	149172163	149172163	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:149172163T>A	ENST00000340622.3	-	7	1527	c.1247A>T	c.(1246-1248)cAg>cTg	p.Q416L	ZNF746_ENST00000458143.2_Missense_Mutation_p.Q417L			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	416					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	p.Q416L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CCTTGGGGCCTGGCTGGGGTC	0.662000													4	17					0	0	0.000248	0	0
HTT	3064	broad.mit.edu	37	4	3201610	3201610	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:3201610G>A	ENST00000355072.5	+	41	5665	c.5520G>A	c.(5518-5520)ctG>ctA	p.L1840L		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1840					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	p.L1840L(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTCAGATACTGCTGCTTGTCA	0.617000													12	30					0	0	0.001368	0	0
FBN2	2201	broad.mit.edu	37	5	127622515	127622515	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:127622515G>T	ENST00000508053.1	-	61	7881	c.6907C>A	c.(6907-6909)Cac>Aac	p.H2303N	FBN2_ENST00000262464.4_Missense_Mutation_p.H2303N			P35556	FBN2_HUMAN	fibrillin 2	2303	EGF-like 39; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.H2303N(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCACAGTCGTGTAACCCTTCA	0.438000													12	49					2.61681e-11	4.14495e-11	0.002450	1	0
NRG3	10718	broad.mit.edu	37	10	84118550	84118550	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:84118550G>T	ENST00000372142.2	+	3	490	c.216G>T	c.(214-216)aaG>aaT	p.K72N	NRG3_ENST00000404547.1_Missense_Mutation_p.K293N|NRG3_ENST00000372141.2_Missense_Mutation_p.K293N|NRG3_ENST00000556918.1_Missense_Mutation_p.K123N|NRG3_ENST00000404576.2_Missense_Mutation_p.K97N	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	293					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.K72N(1)|p.K293N(1)		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)		GCCGAGACAAGGACCTTGCAT	0.517000													19	71					2.4624e-09	3.69917e-09	0.008871	1	0
HSD17B3	3293	broad.mit.edu	37	9	99006653	99006653	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:99006653C>T	ENST00000375263.3	-	9	677	c.630G>A	c.(628-630)aaG>aaA	p.K210K	HSD17B3_ENST00000464104.1_5'UTR|HSD17B3_ENST00000375262.2_Silent_p.K210K	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	210					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity	p.K210K(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	CTTGCAGGGCCTTGGAAAATG	0.552000													12	110					0	0	0.001368	0	0
PODN	127435	broad.mit.edu	37	1	53541610	53541610	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:53541610A>G	ENST00000371500.3	+	7	976	c.635A>G	c.(634-636)tAt>tGt	p.Y212C	PODN_ENST00000312553.5_Missense_Mutation_p.Y231C|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Intron	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	183					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	p.Y231C(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ACCAAGATCTATGGGCTCACC	0.617000													5	15					0	0	0.001984	0	0
FLNB	2317	broad.mit.edu	37	3	58124020	58124020	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:58124020G>A	ENST00000357272.4	+	29	5038	c.4873G>A	c.(4873-4875)Gcc>Acc	p.A1625T	FLNB_ENST00000348383.5_Missense_Mutation_p.A1625T|FLNB_ENST00000295956.4_Missense_Mutation_p.A1625T|FLNB_ENST00000493452.1_Missense_Mutation_p.A1456T|FLNB_ENST00000490882.1_Missense_Mutation_p.A1656T|FLNB_ENST00000429972.2_Missense_Mutation_p.A1625T|FLNB_ENST00000419752.2_Missense_Mutation_p.A1456T|FLNB_ENST00000358537.3_Missense_Mutation_p.A1625T			O75369	FLNB_HUMAN	filamin B, beta	1625					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.A1625T(1)|p.A1656T(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TCCTGGAATCGCCTCCACTGT	0.522000													20	93					0	0	0.001882	0	0
UGT2A1	10941	broad.mit.edu	37	4	70465104	70465104	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:70465104T>C	ENST00000503640.1	-	2	779	c.724A>G	c.(724-726)Act>Gct	p.T242A	UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000286604.4_Missense_Mutation_p.T286A|UGT2A1_ENST00000512704.1_Missense_Mutation_p.T242A|UGT2A2_ENST00000457664.2_Missense_Mutation_p.T251A|UGT2A1_ENST00000514019.1_Missense_Mutation_p.T452A	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	242					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	p.T251A(1)|p.T242A(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CATAACGTAGTGGGTCTTCCT	0.368000													13	60					0	0	0.001368	0	0
CCDC80	151887	broad.mit.edu	37	3	112358703	112358703	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:112358703A>G	ENST00000206423.3	-	2	1003	c.50T>C	c.(49-51)cTa>cCa	p.L17P	CCDC80_ENST00000475181.1_5'UTR|CCDC80_ENST00000439685.2_Missense_Mutation_p.L17P	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	17								p.L17P(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TCCACACACTAGCCACATGGC	0.552000													8	57					0	0	0.006214	0	0
LRRC59	55379	broad.mit.edu	37	17	48470177	48470177	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:48470177G>A	ENST00000225972.7	-	3	482	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C		NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	83						endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding	p.R83C(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TTGACCAGACGGCCAAAGTCT	0.512000													6	137					0	0	0.001984	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137206	40137206	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:40137206G>T	ENST00000278198.2	-	2	2600	c.637C>A	c.(637-639)Cct>Act	p.P213T	LRRC4C_ENST00000528697.1_Missense_Mutation_p.P213T|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P213T|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P213T			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	213					regulation of axonogenesis	integral to membrane	protein binding	p.P213T(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTGAGGTTAGGGATTTCCCGA	0.458000													23	47					1.55469e-16	2.74261e-16	0.003330	1	0
DYNAP	284254	broad.mit.edu	37	18	52258503	52258503	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:52258503G>T	ENST00000321600.1	+	1	114	c.68G>T	c.(67-69)gGc>gTc	p.G23V	DYNAP_ENST00000585973.1_Missense_Mutation_p.G26V	NM_173629.1	NP_775900.1			dynactin associated protein									p.G23V(1)									TGTGATACTGGCAGCTCAAGA	0.393000													25	60					1.36565e-18	2.47216e-18	0.002780	1	0
TRIM42	287015	broad.mit.edu	37	3	140397213	140397213	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:140397213C>A	ENST00000286349.3	+	1	333	c.142C>A	c.(142-144)Cgg>Agg	p.R48R		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	48	Cys-rich.					intracellular	zinc ion binding	p.R48R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CAAAGATGAGCGGAACTGCCA	0.542000													17	169					2.23348e-06	2.96607e-06	0.004007	1	0
OR6Y1	391112	broad.mit.edu	37	1	158516969	158516969	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:158516969delG	ENST00000302617.3	-	1	926	c.927delC	c.(925-927)acfs	p.T309fs		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TGCAATGTATGGTCTTTCTGA	0.443													40	76	---	---	---	---					
EDEM3	80267	broad.mit.edu	37	1	184692959	184692960	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:184692959_184692960insA	ENST00000318130.8	-	8	1044_1045	c.778_779insT	c.(778-780)ggafs	p.G260fs	EDEM3_ENST00000367512.3_Frame_Shift_Ins_p.G217fs	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	260					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCTTTTTTCCCAGAGAAAATCA	0.317													35	119	---	---	---	---					
COA6	388753	broad.mit.edu	37	1	234510050	234510050	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:234510050delG	ENST00000366612.1	+	1	604	c.59delG	c.(58-60)tgfs	p.W20fs	COA6_ENST00000366615.4_Frame_Shift_Del_p.W96fs|COA6_ENST00000366613.1_Frame_Shift_Del_p.W66fs					cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)																		GATGAGTACTGGAAGTGTTTA	0.458													47	122	---	---	---	---					
RYR2	6262	broad.mit.edu	37	1	237758850	237758850	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:237758850delG	ENST00000366574.2	+	34	4806	c.4489delG	c.(4489-4491)ggfs	p.G1497fs	RYR2_ENST00000360064.6_Frame_Shift_Del_p.G1495fs|RYR2_ENST00000542537.1_Frame_Shift_Del_p.G1481fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1497	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CATGAGCCCCGGGCAAGGACG	0.473													22	67	---	---	---	---					
REG3A	5068	broad.mit.edu	37	2	79386508	79386508	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:79386508delG	ENST00000393878.1	-	1	278	c.24delC	c.(22-24)ccfs	p.P8fs	REG3A_ENST00000409839.3_Frame_Shift_Del_p.P8fs|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Frame_Shift_Del_p.P8fs	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	8					acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						AAGATACACTGGGCAGGGCCA	0.532													11	77	---	---	---	---					
FIGN	55137	broad.mit.edu	37	2	164467481	164467481	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:164467481delG	ENST00000333129.3	-	3	1175	c.861delC	c.(859-861)ccfs	p.P287fs	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	287	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						GAACAGTGGTGGGGGGTAGGG	0.592													7	94	---	---	---	---					
FARP2	9855	broad.mit.edu	37	2	242407622	242407622	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:242407622delG	ENST00000264042.3	+	18	2131	c.1961delG	c.(1960-1962)ttfs	p.C654fs		NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	654	DH.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		ACCAAACGCTGTAAGAAGTTG	0.527													78	128	---	---	---	---					
TP63	8626	broad.mit.edu	37	3	189587113	189587113	+	Splice_Site	DEL	C	C	-	rs148052765		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:189587113delC	ENST00000264731.3	+	9	1219	c.1129_splice	c.e9-1	p.P377_splice	TP63_ENST00000354600.5_Splice_Site_p.P283_splice|TP63_ENST00000392463.2_Splice_Site_p.P283_splice|TP63_ENST00000418709.2_Splice_Site_p.P377_splice|TP63_ENST00000392461.3_Splice_Site_p.P283_splice|TP63_ENST00000320472.5_Splice_Site_p.P377_splice|TP63_ENST00000456148.1_Splice_Site_p.A279_splice|TP63_ENST00000392460.3_Splice_Site_p.P377_splice|TP63_ENST00000437221.1_Splice_Site_p.P283_splice|TP63_ENST00000440651.2_Splice_Site_p.A373_splice|TP63_ENST00000382063.4_Splice_Site_p.P292_splice|TP63_ENST00000449992.1_Splice_Site_p.P198_splice	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	377	Interaction with HIPK2.				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCTCCACCAGCGTTTCGTCAG	0.363										HNSCC(45;0.13)			13	70	---	---	---	---					
MROH2B	133558	broad.mit.edu	37	5	41018522	41018523	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:41018522_41018523insT	ENST00000399564.4	-	27	3133_3134	c.2683_2684insA	c.(2683-2685)gtgfs	p.V895fs	MROH2B_ENST00000506092.2_Frame_Shift_Ins_p.V450fs	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AACAAGCCACATTTGGAGAAGC	0.366													10	40	---	---	---	---					
PCLO	27445	broad.mit.edu	37	7	82580348	82580348	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:82580348delT	ENST00000423517.2	-	6	9893	c.9556delA	c.(9556-9558)cafs	p.T3186fs	PCLO_ENST00000333891.8_Frame_Shift_Del_p.T3186fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3117	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCGGATGCTGTGGTTAAAGTG	0.438													16	70	---	---	---	---					
HEPACAM2	253012	broad.mit.edu	37	7	92837962	92837962	+	Frame_Shift_Del	DEL	A	A	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:92837962delA	ENST00000394468.2	-	4	1020	c.943delT	c.(943-945)gcfs	p.C316fs	HEPACAM2_ENST00000341723.4_Frame_Shift_Del_p.C304fs|HEPACAM2_ENST00000440868.1_Frame_Shift_Del_p.C304fs|HEPACAM2_ENST00000453812.2_Frame_Shift_Del_p.C339fs	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	316	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TAAGCACAGCACACATAGTCC	0.428													23	131	---	---	---	---					
PRSS3P2	154754	broad.mit.edu	37	7	142481471	142481472	+	RNA	INS	-	-	GCTTAA			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:142481471_142481472insGCTTAA	ENST00000603901.1	+	0	454					NR_001296.3																						CTCACCTCCAGGACACATTTCT	0.480													2	4	---	---	---	---					
ZNF462	58499	broad.mit.edu	37	9	109686588	109686589	+	In_Frame_Ins	INS	-	-	AGCTCA			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:109686588_109686589insAGCTCA	ENST00000277225.5	+	3	684_685	c.395_396insAGCTCA	c.(394-396)ggc>gAGCTCAgc	p.132_132G>ELS	ZNF462_ENST00000457913.1_In_Frame_Ins_p.132_132G>ELS			Q96JM2	ZN462_HUMAN	zinc finger protein 462	132					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAGGTCCATGGAGCTCAAGCTG	0.441													8	70	---	---	---	---					
CHST1	8534	broad.mit.edu	37	11	45671427	45671427	+	Frame_Shift_Del	DEL	G	G	-	rs148878468	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:45671427delG	ENST00000308064.2	-	4	1717	c.1047delC	c.(1045-1047)acfs	p.T349fs		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	349					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		AGTTTCGCACGGTGCCGTATT	0.672													24	94	---	---	---	---					
RP11-807H22.7	0	broad.mit.edu	37	11	71883574	71883574	+	RNA	DEL	C	C	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:71883574delC	ENST00000378140.3	-	0	419				RP11-807H22.6_ENST00000539482.1_RNA																							CAGGAGTGCGCGGGCCAGGAC	0.602													26	88	---	---	---	---					
REXO2	25996	broad.mit.edu	37	11	114315245	114315245	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:114315245delG	ENST00000538791.1	+	1	369	c.22delG	c.(22-24)ggfs	p.G8fs	REXO2_ENST00000539754.1_Intron|REXO2_ENST00000539275.1_Intron|REXO2_ENST00000265881.5_Intron			Q9Y3B8	ORN_HUMAN	RNA exonuclease 2	0					nucleotide metabolic process	mitochondrion|nucleus	3'-5' exonuclease activity|nucleic acid binding			cervix(1)|endometrium(1)|kidney(1)|lung(1)	4		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)		GTGGGGGGCTGGGGATTCTCT	0.413													16	56	---	---	---	---					
PCDH17	27253	broad.mit.edu	37	13	58208014	58208014	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:58208014delG	ENST00000377918.3	+	1	1360	c.1334delG	c.(1333-1335)cgfs	p.R445fs		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	445	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.R445Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ATCGTGGCGCGGGACGGGGGC	0.582													8	29	---	---	---	---					
DACH1	1602	broad.mit.edu	37	13	72255995	72255995	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:72255995delG	ENST00000305425.4	-	2	1324	c.902delC	c.(901-903)cafs	p.P301fs	DACH1_ENST00000359684.2_Frame_Shift_Del_p.P301fs|DACH1_ENST00000313174.7_Frame_Shift_Del_p.P301fs|DACH1_ENST00000354591.4_Frame_Shift_Del_p.P301fs	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	299	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AGAGTTCTCTGGGGAGGTGAC	0.418													13	78	---	---	---	---					
DNAL1	83544	broad.mit.edu	37	14	74125629	74125629	+	Frame_Shift_Del	DEL	A	A	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:74125629delA	ENST00000553645.1	+	3	163	c.122delA	c.(121-123)gtfs	p.D41fs	DNAL1_ENST00000540526.1_Frame_Shift_Del_p.D2fs|DNAL1_ENST00000311089.3_Intron|DNAL1_ENST00000554871.1_Frame_Shift_Del_p.D2fs|DNAL1_ENST00000554339.1_Intron	NM_031427.3	NP_113615.2	Q4LDG9	DNAL1_HUMAN	dynein, axonemal, light chain 1	41										kidney(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		GAGAAGATGGATGCATCCTTG	0.403													154	340	---	---	---	---					
TMEM121	80757	broad.mit.edu	37	14	105996050	105996052	+	In_Frame_Del	DEL	GCC	GCC	-	rs5811180		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:105996050_105996052delGCC	ENST00000392519.2	+	2	1043_1045	c.879_881delGCC	c.(877-882)gtg>gt	p.VP293del	TMEM121_ENST00000431372.1_In_Frame_Del_p.VP293del	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	293	Pro-rich.					integral to membrane				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCAACTCGGTgccgccgccgccg	0.768													2	4	---	---	---	---					
GTF3C1	2975	broad.mit.edu	37	16	27517400	27517401	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:27517400_27517401insT	ENST00000356183.4	-	10	1604_1605	c.1589_1590insA	c.(1588-1590)acafs	p.T530fs	GTF3C1_ENST00000561623.1_Frame_Shift_Ins_p.T530fs	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	530						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						AGGGCGGCTGCTTTTTCAATGG	0.554													14	74	---	---	---	---					
ITGAX	3687	broad.mit.edu	37	16	31388578	31388578	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:31388578delG	ENST00000268296.4	+	23	2902	c.2781delG	c.(2779-2781)gtfs	p.V928fs	ITGAX_ENST00000562522.1_Frame_Shift_Del_p.V928fs	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	928					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TCTACACTGTGGTTAGCAGGT	0.502													20	74	---	---	---	---					
RFWD3	55159	broad.mit.edu	37	16	74678502	74678502	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:74678502delC	ENST00000361070.4	-	5	1021	c.924delG	c.(922-924)ggfs	p.G308fs	RFWD3_ENST00000571750.1_Frame_Shift_Del_p.G308fs	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	308					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CAAAGAGATGCCCACAGCGTA	0.478													7	108	---	---	---	---					
OR3A1	4994	broad.mit.edu	37	17	3195709	3195709	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:3195709delG	ENST00000323404.1	-	1	167	c.168delC	c.(166-168)ccfs	p.P56fs	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TGTGGAGTTTGGGCTCCACCA	0.562													14	46	---	---	---	---					
FAM222B	55731	broad.mit.edu	37	17	27085451	27085451	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:27085451delC	ENST00000341217.5	-	3	1741	c.1526delG	c.(1525-1527)acfs	p.S509fs	FAM222B_ENST00000582266.1_3'UTR|FAM222B_ENST00000581407.1_Frame_Shift_Del_p.S509fs|FAM222B_ENST00000452648.3_Frame_Shift_Del_p.S509fs	NM_018182.2	NP_060652.2	Q8WU58	CQ063_HUMAN	family with sequence similarity 222, member B	509																	TTGCATCAAGCTGTTCTGGCT	0.652													8	68	---	---	---	---					
ARSG	22901	broad.mit.edu	37	17	66352843	66352851	+	In_Frame_Del	DEL	TCCCTCTTT	TCCCTCTTT	-	rs115207014	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:66352843_66352851delTCCCTCTTT	ENST00000448504.2	+	6	1398_1406	c.602_610delTCCCTCTTT	c.(601-612)cat>c	p.LPLY201del	ARSG_ENST00000452479.2_In_Frame_Del_p.LPLY37del|ARSG_ENST00000582154.1_3'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	201					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)			GACGTGGCCCTCCCTCTTTATGAAAACCT	0.493													17	38	---	---	---	---					
PSG4	5672	broad.mit.edu	37	19	43699272	43699272	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:43699272delC	ENST00000405312.3	-	4	1100	c.863delG	c.(862-864)cafs	p.R288fs	PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Frame_Shift_Del_p.R195fs	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	288	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TTCAATGGGTCGCTTTACCCT	0.463													215	322	---	---	---	---					
CST8	10047	broad.mit.edu	37	20	23472391	23472391	+	Frame_Shift_Del	DEL	A	A	-	rs2983288	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:23472391delA	ENST00000246012.1	+	2	444	c.87delA	c.(85-87)acfs	p.T29fs		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	29						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AGAATGAGACAGGGGTGCTGA	0.537													7	164	---	---	---	---					
APOL2	23780	broad.mit.edu	37	22	36623735	36623736	+	In_Frame_Ins	INS	-	-	GGG			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:36623735_36623736insGGG	ENST00000249066.6	-	6	1204_1205	c.728_729insCCC	c.(727-729)cca>cCCCca	p.243_243P>PP	APOL2_ENST00000358502.5_In_Frame_Ins_p.243_243P>PP|APOL2_ENST00000451256.2_In_Frame_Ins_p.355_355P>PP	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	243					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						CAATGATATGCGGGGGTGGGGC	0.564													20	128	---	---	---	---					
DDX17	10521	broad.mit.edu	37	22	38882078	38882078	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:38882078delC	ENST00000396821.3	-	13	2157	c.2058delG	c.(2056-2058)cgfs	p.R686fs	DDX17_ENST00000444597.1_Frame_Shift_Del_p.R136fs|DDX17_ENST00000381633.3_Frame_Shift_Del_p.R607fs	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	605					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GCTGCCCAGACCGGCCTATCC	0.532													8	130	---	---	---	---					
DDX3X	1654	broad.mit.edu	37	X	41201812	41201812	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:41201812delG	ENST00000399959.2	+	5	1204	c.349delG	c.(349-351)gcfs	p.G117fs	DDX3X_ENST00000542215.1_Frame_Shift_Del_p.G161fs|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_Frame_Shift_Del_p.G101fs	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	117					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						AAGTGGCTTTGGCAAATTTGA	0.453										HNSCC(61;0.18)			10	22	---	---	---	---					
CDX4	1046	broad.mit.edu	37	X	72674320	72674320	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:72674320delT	ENST00000373514.2	+	3	754	c.754delT	c.(754-756)ccfs	p.S252fs		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	252						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					TGACTCTGACTCCATCAGCCC	0.448													15	11	---	---	---	---					
