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
FASTKD5	60493	broad.mit.edu	37	20	3128108	3128108	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr20:3128108G>A	ENST00000380266.3	-	2	1930	c.1609C>T	c.(1609-1611)Ctt>Ttt	p.L537F	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	537					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						TCTTGCTGAAGGTGAGTACTA	0.423000													19	26					0	0	0.007413	0	0
MBD6	114785	broad.mit.edu	37	12	57919940	57919940	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr12:57919940C>T	ENST00000355673.3	+	6	1545	c.1189C>T	c.(1189-1191)Caa>Taa	p.Q397*	MBD6_ENST00000431731.2_Nonsense_Mutation_p.Q397*	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	397	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TCCTGTCCCCCAACCCTTTTC	0.622000													23	41					0	0	0.002780	0	0
CASR	846	broad.mit.edu	37	3	122003488	122003488	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr3:122003488G>A	ENST00000498619.1	+	7	3155	c.2717G>A	c.(2716-2718)cGc>cAc	p.R906H	CASR_ENST00000490131.1_Missense_Mutation_p.R896H|CASR_ENST00000296154.5_Missense_Mutation_p.R896H	NM_001178065.1	NP_001171536	P41180	CASR_HUMAN	calcium-sensing receptor	896					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AACGTCTCCCGCAAGCGGTCC	0.657000													12	23					0	0	0.001855	0	0
TCP1	6950	broad.mit.edu	37	6	160205095	160205095	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr6:160205095C>A	ENST00000321394.7	-	7	955	c.675G>T	c.(673-675)atG>atT	p.M225I	TCP1_ENST00000544255.1_Start_Codon_SNP_p.M1I|TCP1_ENST00000392168.2_Missense_Mutation_p.M70I|TCP1_ENST00000420894.2_Missense_Mutation_p.M225I	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	225					'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		TTCTCTTGGGCATGCCTACAA	0.348000													13	19					2.27111e-07	2.46358e-07	0.013537	1	0
TGFBI	7045	broad.mit.edu	37	5	135385267	135385267	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr5:135385267G>A	ENST00000442011.2	+	7	1072	c.911G>A	c.(910-912)aGa>aAa	p.R304K	TGFBI_ENST00000305126.8_Missense_Mutation_p.R304K	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	304	FAS1 2.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAAGCCCTGAGAGGTGAGCAT	0.557000													5	7					0	0	0.000602	0	0
PRKDC	5591	broad.mit.edu	37	8	48740849	48740849	+	Silent	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr8:48740849C>T	ENST00000314191.2	-	63	8510	c.8454G>A	c.(8452-8454)gaG>gaA	p.E2818E	PRKDC_ENST00000338368.3_Silent_p.E2818E|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2819	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ATTTATCCATCTCTTTCAAAA	0.338000								Non-homologous end-joining					10	20					0	0	0.006214	0	0
SERPINC1	462	broad.mit.edu	37	1	173884047	173884047	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr1:173884047G>C	ENST00000367698.3	-	2	170	c.52C>G	c.(52-54)Ctt>Gtt	p.L18V	SERPINC1_ENST00000494024.1_5'UTR	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	18					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	AAGGACAAAAGATAAACCTTC	0.557000											OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	38					0	0	0.003163	0	0
INTS8	55656	broad.mit.edu	37	8	95888700	95888700	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr8:95888700G>C	ENST00000523731.1	+	26	2987	c.2854G>C	c.(2854-2856)Gat>Cat	p.D952H	INTS8_ENST00000447247.1_Missense_Mutation_p.D935H	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	952					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					AGGAGAAACAGATAAAAGACA	0.284000													6	14					0	0	0.001984	0	0
FAM217A	222826	broad.mit.edu	37	6	4069100	4069100	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr6:4069100C>T	ENST00000274673.3	-	7	1760	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN	family with sequence similarity 217, member A	453																	TTCTGATTTTCGGGAAAAGTC	0.388000													32	66					0	0	0.010818	0	0
EML5	161436	broad.mit.edu	37	14	89130890	89130890	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr14:89130890C>A	ENST00000554922.1	-	23	3604	c.3356G>T	c.(3355-3357)gGa>gTa	p.G1119V	EML5_ENST00000352093.5_Missense_Mutation_p.G1081V|EML5_ENST00000380664.5_Missense_Mutation_p.G1119V	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1119						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TTTGCATATTCCTACTCGTTT	0.308000													16	22					2.32078e-09	2.54623e-09	0.003163	1	0
MKI67	4288	broad.mit.edu	37	10	129908693	129908693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr10:129908693G>A	ENST00000368654.3	-	12	2740	c.2365C>T	c.(2365-2367)Caa>Taa	p.Q789*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.Q429*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	789					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCAGTTCCTTGAAACTGTTTT	0.433000													19	57					0	0	0.007413	0	0
LRRC36	55282	broad.mit.edu	37	16	67405141	67405141	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr16:67405141G>C	ENST00000329956.6	+	9	1509	c.1490G>C	c.(1489-1491)aGc>aCc	p.S497T	LRRC36_ENST00000541146.1_Missense_Mutation_p.Q21H|LRRC36_ENST00000290940.7_Missense_Mutation_p.S229T|LRRC36_ENST00000435835.3_Missense_Mutation_p.S376T|LRRC36_ENST00000563189.1_Missense_Mutation_p.S376T	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	497										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		GCTACAGGCAGCGAGGCAAGT	0.483000													19	52					0	0	0.014323	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229089	8229089	+	Silent	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr4:8229089C>T	ENST00000539824.1	+	12	1814	c.1440C>T	c.(1438-1440)ctC>ctT	p.L480L	SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000245105.3_Silent_p.L556L			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	556							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CTGGCCTCCTCATGGCCCTGG	0.697000													16	34					0	0	0.003163	0	0
POLR1A	25885	broad.mit.edu	37	2	86266558	86266558	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr2:86266558G>C	ENST00000263857.6	-	26	4146	c.3768C>G	c.(3766-3768)agC>agG	p.S1256R	POLR1A_ENST00000409681.1_Missense_Mutation_p.S1256R			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1256					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TGATGTTGGCGCTGGCCACCA	0.522000													61	159					0	0	0.014410	0	0
CLOCK	9575	broad.mit.edu	37	4	56329885	56329885	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr4:56329885C>A	ENST00000309964.4	-	8	776	c.526G>T	c.(526-528)Gaa>Taa	p.E176*	CLOCK_ENST00000513440.1_Nonsense_Mutation_p.E176*|CLOCK_ENST00000381322.1_Nonsense_Mutation_p.E176*	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	176	PAS 1.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			GAATCACTTTCCAGCAGATGA	0.318000													15	31					2.48551e-13	2.78261e-13	0.004990	1	0
KLHL23	151230	broad.mit.edu	37	2	170592674	170592674	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr2:170592674G>A	ENST00000392647.2	+	2	1394	c.1150G>A	c.(1150-1152)Gaa>Aaa	p.E384K	KLHL23_ENST00000272797.4_Missense_Mutation_p.E384K|KLHL23_ENST00000602521.1_Intron	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	384										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						GGCTCCAGCAGAAGAGGCTGA	0.398000													32	105					0	0	0.009535	0	0
SPRY1	10252	broad.mit.edu	37	4	124322828	124322828	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr4:124322828G>C	ENST00000394339.2	+	2	422	c.82G>C	c.(82-84)Gac>Cac	p.D28H	SPRY1_ENST00000339241.1_Missense_Mutation_p.D28H	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	28					epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane		p.D28N(1)		NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						TCAGAGATTAGACTATGAGAG	0.468000													5	140					0	0	0.001168	0	0
MBD6	114785	broad.mit.edu	37	12	57918741	57918741	+	Silent	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr12:57918741C>T	ENST00000355673.3	+	5	578	c.222C>T	c.(220-222)ttC>ttT	p.F74F	MBD6_ENST00000431731.2_Silent_p.F74F	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	74	MBD.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TACAGGTTTTCAACTTTGACC	0.567000													26	85					0	0	0.003954	0	0
SMARCA4	6597	broad.mit.edu	37	19	11096931	11096931	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr19:11096931C>T	ENST00000358026.2	+	4	706	c.422C>T	c.(421-423)tCg>tTg	p.S141L	SMARCA4_ENST00000589677.1_Missense_Mutation_p.S141L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.S141L|SMARCA4_ENST00000429416.3_Missense_Mutation_p.S141L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.S141L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.S141L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.S141L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.S141L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.S141L	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	141	Necessary for interaction with SS18L1/CREST (By similarity).				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGCCCGTCTTCGGGGCCCCAG	0.662000			"""F, N, Mis"""		NSCLC								13	35					0	0	0.002450	0	0
KANK1	23189	broad.mit.edu	37	9	742241	742241	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr9:742241G>A	ENST00000382303.1	+	14	4385	c.3733G>A	c.(3733-3735)Gga>Aga	p.G1245R	KANK1_ENST00000382293.3_Missense_Mutation_p.G1087R|KANK1_ENST00000382297.2_Missense_Mutation_p.G1245R|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1245					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GGTCAGTCACGGACGGATAGA	0.602000													4	62					0	0	0.000602	0	0
KCTD10	83892	broad.mit.edu	37	12	109895444	109895444	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr12:109895444G>A	ENST00000228495.6	-	5	799	c.518C>T	c.(517-519)tCa>tTa	p.S173L	KCTD10_ENST00000540411.1_Missense_Mutation_p.S170L|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000540089.1_5'UTR|KCTD10_ENST00000424763.2_5'UTR	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	173					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						CCTGGTATATGAGTATTTGTT	0.468000													13	38					0	0	0.013537	0	0
USH2A	7399	broad.mit.edu	37	1	215972398	215972398	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr1:215972398C>T	ENST00000366943.2	-	50	10195	c.9809G>A	c.(9808-9810)aGa>aAa	p.R3270K	USH2A_ENST00000307340.3_Missense_Mutation_p.R3270K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3270					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.R3270K(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)		GTACGGCATTCTGCCACAGCA	0.478000										HNSCC(13;0.011)			11	20					0	0	0.008291	0	0
KDM6A	7403	broad.mit.edu	37	X	44948995	44948995	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chrX:44948995T>A	ENST00000377967.4	+	25	3597	c.3556T>A	c.(3556-3558)Ttg>Atg	p.L1186M	KDM6A_ENST00000536777.1_Missense_Mutation_p.L1141M|KDM6A_ENST00000543216.1_Missense_Mutation_p.L1107M|KDM6A_ENST00000382899.4_Missense_Mutation_p.L1193M	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1186	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CAGAAATAATTTGAATTTCCT	0.328000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								9	7					0	0	0.006214	0	0
MED13	9969	broad.mit.edu	37	17	60062137	60062137	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr17:60062137C>G	ENST00000397786.2	-	14	2642	c.2566G>C	c.(2566-2568)Gaa>Caa	p.E856Q		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	856					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTACCATATTCTTTATTATTC	0.358000													19	33					0	0	0.006122	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585273	70585273	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr8:70585273C>G	ENST00000260126.4	-	10	3084	c.2378G>C	c.(2377-2379)aGa>aCa	p.R793T	SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R738T	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1							integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TGGGCAAGATCTAGTCCGGGC	0.572000													15	41					0	0	0.002450	0	0
ZNF587	84914	broad.mit.edu	37	19	58370346	58370346	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr19:58370346A>C	ENST00000339656.5	+	3	748	c.566A>C	c.(565-567)gAa>gCa	p.E189A	ZNF814_ENST00000596604.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.E188A|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Silent_p.L14L|ZNF587_ENST00000419854.1_Missense_Mutation_p.E146A	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E189A(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)		TGCCAAGAAGAAGCTGCTGTA	0.478000													3	38					0	0	0.009096	0	0
RCBTB2	1102	broad.mit.edu	37	13	49076927	49076927	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr13:49076927G>A	ENST00000544904.1	-	8	1013	c.835C>T	c.(835-837)Ctc>Ttc	p.L279F	RCBTB2_ENST00000430805.2_Silent_p.F355F|RCBTB2_ENST00000344532.3_Silent_p.F350F|RCBTB2_ENST00000544492.1_Silent_p.F76F			O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	0							Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		CAGTGCAGGAGAAGTGGGTGA	0.647000													14	64					0	0	0.002450	0	0
CORO2B	10391	broad.mit.edu	37	15	69006944	69006944	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr15:69006944C>T	ENST00000543950.1	+	7	1151	c.797C>T	c.(796-798)tCt>tTt	p.S266F	CORO2B_ENST00000540068.1_Missense_Mutation_p.S266F|CORO2B_ENST00000261861.5_Missense_Mutation_p.S266F|CORO2B_ENST00000566799.1_Missense_Mutation_p.S271F	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	271					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GATGGGCTCTCTGGCCTCCTG	0.602000													43	97					0	0	0.014410	0	0
ZFP69B	65243	broad.mit.edu	37	1	40928710	40928710	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr1:40928710C>G	ENST00000411995.2	+	6	1429	c.1054C>G	c.(1054-1056)Caa>Gaa	p.Q352E	ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Missense_Mutation_p.Q250E	NM_023070.2	NP_075558.2			ZFP69 zinc finger protein B																		ATCGCTTACTCAACATGTTAG	0.428000													13	28					0	0	0.013537	0	0
TMOD2	29767	broad.mit.edu	37	15	52058762	52058762	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr15:52058762G>C	ENST00000249700.4	+	2	345	c.124G>C	c.(124-126)Gag>Cag	p.E42Q	TMOD2_ENST00000539962.2_5'UTR|TMOD2_ENST00000435126.2_Missense_Mutation_p.E42Q	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	42					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		CCTAGATCCTGAGGTTAGTGA	0.408000													45	74					0	0	0.014410	0	0
BCO2	83875	broad.mit.edu	37	11	112086988	112086988	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr11:112086988C>T	ENST00000357685.5	+	11	1696	c.1561C>T	c.(1561-1563)Cca>Tca	p.P521S	BCO2_ENST00000393032.2_Missense_Mutation_p.P487S|BCO2_ENST00000531169.1_Missense_Mutation_p.P487S|BCO2_ENST00000438022.1_Missense_Mutation_p.P487S|BCO2_ENST00000361053.4_Missense_Mutation_p.P448S|BCO2_ENST00000526088.1_Missense_Mutation_p.P481S|BCO2_ENST00000532593.1_Missense_Mutation_p.P416S			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	521					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						TGTTTTTGTTCCAGCACCAGG	0.413000													15	20					0	0	0.004007	0	0
F8	2157	broad.mit.edu	37	X	154156856	154156856	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chrX:154156856G>C	ENST00000360256.4	-	14	5409	c.5209C>G	c.(5209-5211)Cta>Gta	p.L1737V		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1737	F5/8 type A 3.|Plastocyanin-like 5.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTGTTTCTTAGAACATGTGGG	0.428000													9	3					0	0	0.008291	0	0
PLCL2	23228	broad.mit.edu	37	3	17052496	17052496	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr3:17052496C>T	ENST00000418129.2	+	2	1745	c.1280C>T	c.(1279-1281)tCt>tTt	p.S427F	PLCL2_ENST00000432376.1_Missense_Mutation_p.S427F|PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000396755.2_Missense_Mutation_p.S427F	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	553	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GTTGAGGAATCTTATCTACCA	0.398000													11	19					0	0	0.001855	0	0
SAMM50	25813	broad.mit.edu	37	22	44377326	44377326	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr22:44377326C>T	ENST00000350028.4	+	11	1149	c.992C>T	c.(991-993)tCa>tTa	p.S331L	SAMM50_ENST00000396202.3_Missense_Mutation_p.S121L	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	331					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GATAAGCCGTCAAGCATTGCT	0.358000													23	45					0	0	0.003330	0	0
OBSCN	84033	broad.mit.edu	37	1	228401894	228401894	+	Silent	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr1:228401894C>G	ENST00000570156.2	+	4	1352	c.1278C>G	c.(1276-1278)ctC>ctG	p.L426L	OBSCN_ENST00000422127.1_Silent_p.L426L|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.L426L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	426	Ig-like 5.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCGAAAGCTCCCTCGGAAGA	0.697000													28	74					0	0	0.012213	0	0
NBPF1	55672	broad.mit.edu	37	1	16918399	16918399	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr1:16918399C>A	ENST00000430580.2	-	7	1005	c.118G>T	c.(118-120)Gag>Tag	p.E40*		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	40						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)		AAACATTTCTCTTTGAGGTTT	0.458000													34	789					2.29192e-23	2.60383e-23	0.014410	1	0
UACA	55075	broad.mit.edu	37	15	70960310	70960310	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr15:70960310C>T	ENST00000322954.6	-	16	2898	c.2713G>A	c.(2713-2715)Gaa>Aaa	p.E905K	UACA_ENST00000560441.1_Missense_Mutation_p.E890K|UACA_ENST00000379983.2_Missense_Mutation_p.E892K|UACA_ENST00000539319.1_Missense_Mutation_p.E796K	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	905						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TTTAATATTTCATTCTTATCT	0.338000													9	25					0	0	0.004482	0	0
RBM10	8241	broad.mit.edu	37	X	47041576	47041576	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chrX:47041576C>T	ENST00000377604.3	+	17	2543	c.1801C>T	c.(1801-1803)Cag>Tag	p.Q601*	RBM10_ENST00000345781.6_Nonsense_Mutation_p.Q524*|RBM10_ENST00000329236.7_Nonsense_Mutation_p.Q523*	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	601	Tyr-rich.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CTACAATGCTCAGAGCCAGCA	0.592000													12	9					0	0	0.013537	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869859	22869859	+	Silent	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr22:22869859C>T	ENST00000302097.3	-	2	348	c.96G>A	c.(94-96)ctG>ctA	p.L32L		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	32					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		CAACATAGATCAGATCTGGAT	0.383000													41	84					0	0	0.007835	0	0
NDST3	9348	broad.mit.edu	37	4	118975893	118975893	+	Silent	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr4:118975893G>A	ENST00000296499.5	+	2	1231	c.828G>A	c.(826-828)ttG>ttA	p.L276L	NDST3_ENST00000433996.2_Silent_p.L276L	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	276	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						GCAACAACTTGAACTTTTGGC	0.423000													32	103					0	0	0.012213	0	0
DENND2C	163259	broad.mit.edu	37	1	115168413	115168413	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr1:115168413C>G	ENST00000393274.1	-	4	818	c.193G>C	c.(193-195)Gag>Cag	p.E65Q	DENND2C_ENST00000393277.1_Missense_Mutation_p.E65Q|DENND2C_ENST00000393276.3_Missense_Mutation_p.E65Q	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	65										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCTTTCTCTCAGCTATAGGA	0.368000													50	113					0	0	0.014410	0	0
EXO1	9156	broad.mit.edu	37	1	242042635	242042635	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr1:242042635C>T	ENST00000366548.3	+	13	2692	c.2099C>T	c.(2098-2100)tCt>tTt	p.S700F	EXO1_ENST00000348581.5_Missense_Mutation_p.S700F|EXO1_ENST00000518483.1_Missense_Mutation_p.S700F	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	700	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AGTAAGGACTCTGATTCAGAG	0.378000								Editing and processing nucleases					8	25					0	0	0.003080	0	0
KIAA1033	23325	broad.mit.edu	37	12	105514927	105514927	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr12:105514927G>A	ENST00000332180.5	+	9	697	c.610G>A	c.(610-612)Gat>Aat	p.D204N		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	204					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GCTCACCCTGGATGAAATTAT	0.318000													12	28					0	0	0.010729	0	0
SERPINA6	866	broad.mit.edu	37	14	94780574	94780574	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr14:94780574C>T	ENST00000341584.3	-	2	558	c.412G>A	c.(412-414)Gag>Aag	p.E138K		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	138					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TCCAGCAACTCCAGGCTGCCA	0.498000													11	21					0	0	0.008291	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156632145	156632145	+	Silent	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr4:156632145G>A	ENST00000296518.7	+	6	1037	c.828G>A	c.(826-828)gtG>gtA	p.V276V	GUCY1A3_ENST00000506455.1_Silent_p.V276V|GUCY1A3_ENST00000393832.3_Silent_p.V18V|GUCY1A3_ENST00000455639.2_Silent_p.V276V|GUCY1A3_ENST00000511108.1_Silent_p.V276V|GUCY1A3_ENST00000513574.1_Silent_p.V276V|GUCY1A3_ENST00000511507.1_Silent_p.V276V			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	276					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CCTCGCTGGTGATTCCCACAT	0.463000													23	51					0	0	0.002780	0	0
MMP10	4319	broad.mit.edu	37	11	102649448	102649448	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr11:102649448C>T	ENST00000279441.4	-	4	565	c.529G>A	c.(529-531)Gga>Aga	p.G177R		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	177					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		AAACTGTGTCCTGGGCCATCA	0.403000													18	51					0	0	0.008871	0	0
ODF2	4957	broad.mit.edu	37	9	131219695	131219695	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr9:131219695C>T	ENST00000434106.3	+	2	374	c.11C>T	c.(10-12)tCa>tTa	p.S4L	ODF2_ENST00000372814.3_Intron|ODF2_ENST00000448249.3_Intron|ODF2_ENST00000351030.3_Intron|ODF2_ENST00000393533.2_Intron|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000372791.3_Missense_Mutation_p.S4L|ODF2_ENST00000604420.1_Missense_Mutation_p.S4L|ODF2_ENST00000546203.1_Intron|ODF2_ENST00000393527.3_5'UTR	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2						cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	p.S4L(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						ATGTCTGCCTCATCCTCAGGC	0.662000													34	41					0	0	0.006230	0	0
PLCE1	51196	broad.mit.edu	37	10	96006249	96006249	+	Silent	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr10:96006249G>A	ENST00000371380.3	+	7	3202	c.2967G>A	c.(2965-2967)gtG>gtA	p.V989V	PLCE1_ENST00000260766.3_Silent_p.V989V|PLCE1_ENST00000371375.1_Silent_p.V681V|PLCE1_ENST00000371385.3_Silent_p.V681V			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGCACTTCGTGGCACCAAAGC	0.468000													26	69					0	0	0.003954	0	0
MPEG1	219972	broad.mit.edu	37	11	58978635	58978635	+	Silent	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr11:58978635G>A	ENST00000361050.3	-	1	1789	c.1704C>T	c.(1702-1704)atC>atT	p.I568I		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	568						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				ATCCATCGCTGATGAGGGCTG	0.607000													28	62					0	0	0.004656	0	0
ARID1B	57492	broad.mit.edu	37	6	157150475	157150475	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr6:157150475C>T	ENST00000346085.5	+	2	1658	c.1657C>T	c.(1657-1659)Cca>Tca	p.P553S	ARID1B_ENST00000275248.4_Missense_Mutation_p.P495S|ARID1B_ENST00000367148.1_Missense_Mutation_p.P553S|ARID1B_ENST00000350026.5_Missense_Mutation_p.P553S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	553					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			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)		CTATGGCCCTCCAGGCCCACA	0.597000													12	19					0	0	0.013537	0	0
ZNF841	284371	broad.mit.edu	37	19	52568727	52568727	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr19:52568727C>G	ENST00000389534.4	-	7	2867	c.2408G>C	c.(2407-2409)aGa>aCa	p.R803T	ZNF841_ENST00000359973.2_Missense_Mutation_p.R379T|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.R803T|ZNF841_ENST00000426391.2_Missense_Mutation_p.R687T	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	687					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TGAACGTACTCTAAAGGCTTT	0.403000													6	38					0	0	0.001168	0	0
AGPAT3	56894	broad.mit.edu	37	21	45390599	45390599	+	Silent	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr21:45390599G>A	ENST00000398063.2	+	5	1068	c.576G>A	c.(574-576)gcG>gcA	p.A192A	AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000546158.1_Silent_p.A192A|AGPAT3_ENST00000327505.2_Silent_p.A192A|AGPAT3_ENST00000398061.1_Silent_p.A192A|AGPAT3_ENST00000398058.1_Silent_p.A192A|AGPAT3_ENST00000291572.8_Silent_p.A192A	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	192					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TGGAGGTGGCGGCTGCTAAGG	0.622000													15	15					0	0	0.004007	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40630571	40630571	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr17:40630571G>T	ENST00000343619.4	+	7	720	c.597G>T	c.(595-597)caG>caT	p.Q199H	ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.Q199H|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.Q206H|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.Q156H|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.Q156H|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.Q199H	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	199					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TCCTGCGACAGGCTGAAATCG	0.547000													8	48					7.48243e-07	8.09367e-07	0.006214	1	0
NKAPL	222698	broad.mit.edu	37	6	28227544	28227544	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr6:28227544G>C	ENST00000343684.3	+	1	447	c.395G>C	c.(394-396)gGa>gCa	p.G132A		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	132										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						GGGGAATTGGGAGCGCCTGAA	0.537000													38	86					0	0	0.004289	0	0
ZNF337	26152	broad.mit.edu	37	20	25656944	25656944	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr20:25656944C>T	ENST00000376436.1	-	4	1519	c.980G>A	c.(979-981)cGa>cAa	p.R327Q	ZNF337_ENST00000252979.5_Missense_Mutation_p.R327Q|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.R295Q					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGTATAGCCTCGCCCACACTC	0.488000													25	80					0	0	0.003330	0	0
RFTN2	130132	broad.mit.edu	37	2	198495939	198495939	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr2:198495939C>T	ENST00000295049.4	-	5	1260	c.724G>A	c.(724-726)Gat>Aat	p.D242N		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2							plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						AATTTGTTATCTGAGGCTAGG	0.348000													18	39					0	0	0.007413	0	0
NUP155	9631	broad.mit.edu	37	5	37294509	37294509	+	Silent	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr5:37294509G>A	ENST00000231498.3	-	33	4055	c.3852C>T	c.(3850-3852)ttC>ttT	p.F1284F	NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000381843.2_Silent_p.F1225F|NUP155_ENST00000513532.1_Silent_p.F1220F	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1284					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTGTATTACGAAGCCCACAT	0.333000													5	20					0	0	0.000602	0	0
ZNF841	284371	broad.mit.edu	37	19	52569455	52569455	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr19:52569455C>G	ENST00000389534.4	-	7	2139	c.1680G>C	c.(1678-1680)atG>atC	p.M560I	ZNF841_ENST00000359973.2_Intron|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.M560I|ZNF841_ENST00000426391.2_Missense_Mutation_p.M444I	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TATGACATCTCATATGAACCG	0.403000													23	35					0	0	0.012319	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75560414	75560414	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr10:75560414G>C	ENST00000604729.1	+	24	5316	c.5019G>C	c.(5017-5019)gaG>gaC	p.E1673D	RP11-574K11.31_ENST00000603027.1_Intron|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.E1676D|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.E1494D|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.E1635D|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.E1681D					zinc finger, SWIM-type containing 8																		TGGCACTGGAGATGCTGGGTC	0.567000													14	41					0	0	0.002450	0	0
TAS2R4	50832	broad.mit.edu	37	7	141478837	141478837	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr7:141478837G>C	ENST00000247881.2	+	1	596	c.549G>C	c.(547-549)ttG>ttC	p.L183F	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	183					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		CTTTGGTCTTGAGCTCATCTC	0.403000													64	248					0	0	0.014410	0	0
HSPG2	3339	broad.mit.edu	37	1	22216603	22216603	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr1:22216603C>T	ENST00000374695.3	-	6	524	c.445G>A	c.(445-447)Gat>Aat	p.D149N		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	149	SEA.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GAGCCCACATCCAGCTCCACA	0.607000													21	78					0	0	0.002780	0	0
TBCE	6905	broad.mit.edu	37	1	235611678	235611678	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr1:235611678C>G	ENST00000543662.1	+	17	1673	c.1567C>G	c.(1567-1569)Caa>Gaa	p.Q523E	TBCE_ENST00000406207.1_Missense_Mutation_p.Q472E|TBCE_ENST00000366601.3_Missense_Mutation_p.Q472E|TBCE_ENST00000472011.1_3'UTR			Q15813	TBCE_HUMAN	tubulin folding cofactor E	472					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			CATGACAATTCAAAAGGTGAA	0.408000													20	44					0	0	0.008871	0	0
MPEG1	219972	broad.mit.edu	37	11	58978681	58978681	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr11:58978681G>C	ENST00000361050.3	-	1	1743	c.1658C>G	c.(1657-1659)tCt>tGt	p.S553C		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	553						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CTTTTTCAGAGACGGTGCCCC	0.572000													24	57					0	0	0.004656	0	0
BTG1	694	broad.mit.edu	37	12	92539287	92539287	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr12:92539287C>T	ENST00000256015.3	-	1	386	c.25G>A	c.(25-27)Gcc>Acc	p.A9T		NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	9					cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				ATCATGGTGGCGGCCCGGGTG	0.731000			T	MYC	BCLL								12	26					0	0	0.001855	0	0
JAK2	3717	broad.mit.edu	37	9	5126756	5126756	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr9:5126756C>T	ENST00000381652.3	+	25	3858	c.3364C>T	c.(3364-3366)Cga>Tga	p.R1122*	JAK2_ENST00000544510.1_Nonsense_Mutation_p.R973*|JAK2_ENST00000539801.1_Nonsense_Mutation_p.R1122*|JAK2_ENST00000487310.1_3'UTR	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	1122	Protein kinase 2.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TCTAGCTCTTCGAGTGGATCA	0.353000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				8	10					0	0	0.003080	0	0
KCNB1	3745	broad.mit.edu	37	20	47989977	47989977	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr20:47989977C>G	ENST00000371741.4	-	2	2286	c.2120G>C	c.(2119-2121)gGa>gCa	p.G707A		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	707					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACACTCCAGTCCAGCGACAGC	0.597000													4	46					0	0	0.009096	0	0
C10orf118	55088	broad.mit.edu	37	10	115894769	115894769	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr10:115894769A>T	ENST00000369287.3	-	10	1824	c.1558T>A	c.(1558-1560)Tca>Aca	p.S520T	C10orf118_ENST00000543782.1_Missense_Mutation_p.S118T	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN	chromosome 10 open reading frame 118	520										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TTATATTTTGATAATTCATCT	0.323000													12	29					0	0	0.013537	0	0
MBD6	114785	broad.mit.edu	37	12	57919725	57919725	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr12:57919725C>G	ENST00000355673.3	+	6	1330	c.974C>G	c.(973-975)tCt>tGt	p.S325C	MBD6_ENST00000431731.2_Missense_Mutation_p.S325C	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	325	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						AGCCTACTCTCTGCAGCGGCC	0.687000													10	40					0	0	0.010729	0	0
GOLGB1	2804	broad.mit.edu	37	3	121414199	121414199	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr3:121414199G>A	ENST00000393667.3	-	13	5281	c.5171C>T	c.(5170-5172)tCt>tTt	p.S1724F	GOLGB1_ENST00000340645.5_Missense_Mutation_p.S1719F	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1719					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GGCATTGGAAGAAAGAAGTGT	0.433000													39	90					0	0	0.004878	0	0
SYNJ2	8871	broad.mit.edu	37	6	158487635	158487635	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr6:158487635C>T	ENST00000355585.4	+	12	1760	c.1685C>T	c.(1684-1686)tCg>tTg	p.S562L	SYNJ2_ENST00000367122.2_Missense_Mutation_p.S562L|SYNJ2_ENST00000367121.3_Missense_Mutation_p.S562L|SYNJ2_ENST00000449859.2_Missense_Mutation_p.S490L	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	562							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTGCTCGACTCGCCCCAGCTC	0.597000													19	26					0	0	0.007413	0	0
MTIF3	219402	broad.mit.edu	37	13	28014539	28014539	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr13:28014539G>A	ENST00000381116.1	-	5	281	c.47C>T	c.(46-48)tCt>tTt	p.S16F	MTIF3_ENST00000431572.2_Missense_Mutation_p.S16F|MTIF3_ENST00000405591.2_Missense_Mutation_p.S16F|MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000381120.3_Missense_Mutation_p.S16F			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	16					regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		ACTATTTTCAGACTTTACAGT	0.388000													6	35					0	0	0.001168	0	0
RHD	6007	broad.mit.edu	37	1	25599098	25599098	+	Silent	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr1:25599098G>A	ENST00000328664.4	+	1	215	c.60G>A	c.(58-60)ctG>ctA	p.L20L	RHD_ENST00000568195.1_Silent_p.L20L|RHD_ENST00000342055.5_Silent_p.L20L|RHD_ENST00000423810.2_Silent_p.L20L|RHD_ENST00000357542.4_Silent_p.L20L|RHD_ENST00000417538.2_Silent_p.L20L|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000454452.2_Silent_p.L20L	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	20						integral to plasma membrane				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCCTAACACTGGAAGCAGCTC	0.552000													16	42					0	0	0.004007	0	0
DCAF15	90379	broad.mit.edu	37	19	14065241	14065241	+	Silent	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr19:14065241C>G	ENST00000254337.6	+	2	243	c.222C>G	c.(220-222)ctC>ctG	p.L74L		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	74										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						AGGACTTCCTCTATGCAGGGT	0.667000													5	23					0	0	0.000602	0	0
TECTA	7007	broad.mit.edu	37	11	121032972	121032972	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr11:121032972G>C	ENST00000392793.1	+	16	5436	c.5165G>C	c.(5164-5166)tGc>tCc	p.C1722S	TECTA_ENST00000264037.2_Missense_Mutation_p.C1722S			O75443	TECTA_HUMAN	tectorin alpha	1722					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTGGACGGCTGCTACAGCCAC	0.612000													14	14					0	0	0.002450	0	0
COL7A1	1294	broad.mit.edu	37	3	48611123	48611123	+	Splice_Site	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr3:48611123C>T	ENST00000328333.8	-	81	6680	c.6573G>A	c.(6571-6573)ccG>ccA	p.P2191P	COL7A1_ENST00000454817.1_Splice_Site_p.P2159P	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2191	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			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)		GGTCACTCACCGGGGCACCAG	0.592000													4	10					0	0	0.000602	0	0
AP3D1	8943	broad.mit.edu	37	19	2132479	2132479	+	Silent	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr19:2132479G>A	ENST00000355272.6	-	5	659	c.453C>T	c.(451-453)atC>atT	p.I151I	AP3D1_ENST00000345016.5_Silent_p.I151I|AP3D1_ENST00000350812.6_Intron|AP3D1_ENST00000356926.4_Silent_p.I151I	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	151					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		CCAGTGTCATGATGTCATTTG	0.567000													29	73					0	0	0.006320	0	0
FNIP2	57600	broad.mit.edu	37	4	159789595	159789595	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr4:159789595G>C	ENST00000264433.6	+	13	1882	c.1807G>C	c.(1807-1809)Gag>Cag	p.E603Q	FNIP2_ENST00000379346.3_Missense_Mutation_p.E626Q	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	603	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TGAGTGCCCAGAGGGCACTGA	0.597000													9	33					0	0	0.004482	0	0
SV2C	22987	broad.mit.edu	37	5	75428132	75428132	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr5:75428132C>G	ENST00000502798.2	+	2	999	c.557C>G	c.(556-558)cCa>cGa	p.P186R	SV2C_ENST00000322285.7_Missense_Mutation_p.P186R	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	186					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CTCTGCATCCCAAATTCAGGA	0.483000													6	23					0	0	0.003080	0	0
AHR	196	broad.mit.edu	37	7	17375399	17375399	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr7:17375399G>C	ENST00000242057.4	+	9	1792	c.1149G>C	c.(1147-1149)caG>caC	p.Q383H	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	383	PAC.				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.Q383H(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TTGTAACTCAGAGACCACTAA	0.348000													6	16					0	0	0.001984	0	0
SLC35D1	23169	broad.mit.edu	37	1	67519607	67519607	+	Silent	SNP	C	C	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr1:67519607C>A	ENST00000235345.5	-	1	175	c.90G>T	c.(88-90)ggG>ggT	p.G30G		NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	30					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	CCGACGCCATCCCCAGCTCCT	0.602000													8	28					5.18039e-06	5.54114e-06	0.003080	1	0
IFNK	56832	broad.mit.edu	37	9	27524619	27524619	+	Silent	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr9:27524619C>T	ENST00000276943.2	+	1	308	c.285C>T	c.(283-285)ttC>ttT	p.F95F	MOB3B_ENST00000262244.5_Intron	NM_020124.2	NP_064509.2	Q9P0W0	IFNK_HUMAN	interferon, kappa	95					cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			large_intestine(1)	1		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)		TACAGGCCTTCAACATCTTCA	0.428000													7	98					0	0	0.004482	0	0
GDE1	51573	broad.mit.edu	37	16	19519095	19519095	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr16:19519095C>T	ENST00000353258.3	-	4	730	c.550G>A	c.(550-552)Gag>Aag	p.E184K		NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	184	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						TTTAGAGCCTCAGTAGCCTGT	0.328000													10	45					0	0	0.006214	0	0
HSPG2	3339	broad.mit.edu	37	1	22158275	22158275	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr1:22158275G>C	ENST00000374695.3	-	82	11301	c.11222C>G	c.(11221-11223)tCa>tGa	p.S3741*		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3741	Laminin G-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGCCATGCCTGAGCCTGCATC	0.657000													7	18					0	0	0.004482	0	0
ZSCAN16	80345	broad.mit.edu	37	6	28097711	28097711	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr6:28097711G>A	ENST00000340487.4	+	4	1179	c.1030G>A	c.(1030-1032)Gca>Aca	p.A344T	ZSCAN16-AS1_ENST00000602810.1_RNA|ZSCAN16-AS1_ENST00000600652.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	344					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AATTCATACCGCAAATAAACT	0.363000													3	34					0	0	0.004672	0	0
EDC4	23644	broad.mit.edu	37	16	67915970	67915970	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr16:67915970G>C	ENST00000358933.5	+	23	3357	c.3118G>C	c.(3118-3120)Gag>Cag	p.E1040Q		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	1040					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TGGGCGGCTAGAGCGCAGCAT	0.597000													8	15					0	0	0.004482	0	0
CEP55	55165	broad.mit.edu	37	10	95287814	95287814	+	Silent	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr10:95287814C>G	ENST00000371485.3	+	9	1603	c.1299C>G	c.(1297-1299)ctC>ctG	p.L433L		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	433	Required for localization to the interphase centrosome and to the midbody during cytokinesis.				cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				CTGCTGCACTCAATGAAAGCC	0.458000													25	51					0	0	0.002780	0	0
C5orf28	64417	broad.mit.edu	37	5	43446647	43446647	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr5:43446647G>C	ENST00000500337.2	-	5	656	c.325C>G	c.(325-327)Ctc>Gtc	p.L109V	C5orf28_ENST00000510130.1_Missense_Mutation_p.L7V|C5orf28_ENST00000537319.1_5'UTR|C5orf28_ENST00000511525.1_5'UTR|C5orf28_ENST00000397080.3_Missense_Mutation_p.L109V|C5orf28_ENST00000512085.1_Missense_Mutation_p.L109V			Q0VDI3	CE028_HUMAN	chromosome 5 open reading frame 28	109						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					CTTCGCGGGAGAGTCAAAGCA	0.388000													6	32					0	0	0.004482	0	0
TECPR1	25851	broad.mit.edu	37	7	97862900	97862900	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr7:97862900G>A	ENST00000447648.2	-	11	1804	c.1505C>T	c.(1504-1506)tCg>tTg	p.S502L	TECPR1_ENST00000542604.1_Missense_Mutation_p.S432L|TECPR1_ENST00000379795.3_Missense_Mutation_p.S502L			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	502						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCCAGCGGCCGAGTGGCTGGG	0.692000													8	2					0	0	0.010729	0	0
FBXO47	494188	broad.mit.edu	37	17	37099876	37099876	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr17:37099876C>G	ENST00000378079.2	-	8	1106	c.907G>C	c.(907-909)Gat>Cat	p.D303H		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	303										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						ATAACATCATCTGCTGTCCAC	0.308000													7	60					0	0	0.001984	0	0
CCT8	10694	broad.mit.edu	37	21	30428810	30428810	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr21:30428810C>T	ENST00000286788.4	-	15	1839	c.1633G>A	c.(1633-1635)Gac>Aac	p.D545N	CCT8_ENST00000540844.1_Missense_Mutation_p.D472N|CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000542732.1_Missense_Mutation_p.D526N	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	545					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						TCATTTTGGTCATCATCCCAG	0.383000													44	23					0	0	0.014410	0	0
CIDECP	152302	broad.mit.edu	37	3	10059481	10059481	+	RNA	SNP	G	G	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr3:10059481G>T	ENST00000432401.1	-	0	505																											CCTGTGTGGTGAGGGAGGTGT	0.627000													5	17					3.59834e-05	3.8065e-05	0.001168	1	0
ZFP69B	65243	broad.mit.edu	37	1	40928311	40928311	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr1:40928311C>G	ENST00000411995.2	+	6	1030	c.655C>G	c.(655-657)Cag>Gag	p.Q219E	ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Missense_Mutation_p.Q117E	NM_023070.2	NP_075558.2			ZFP69 zinc finger protein B																		AACATTCACTCAGGAGAGAGG	0.403000													36	114					0	0	0.003755	0	0
DHX30	22907	broad.mit.edu	37	3	47890700	47890700	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr3:47890700C>G	ENST00000446256.2	+	20	3403	c.2831C>G	c.(2830-2832)tCa>tGa	p.S944*	DHX30_ENST00000445061.1_Nonsense_Mutation_p.S983*|DHX30_ENST00000457607.1_Nonsense_Mutation_p.S1011*|DHX30_ENST00000348968.4_Nonsense_Mutation_p.S955*	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	983						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AAGCAGTTCTCAGAGAACATT	0.592000													20	71					0	0	0.010504	0	0
ATP1A2	477	broad.mit.edu	37	1	160109760	160109760	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr1:160109760G>A	ENST00000361216.3	+	22	3109	c.3020G>A	c.(3019-3021)cGg>cAg	p.R1007Q	ATP1A2_ENST00000459972.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.R996Q	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	1007					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.R1007P(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTCATCCTGCGGCGGTATCCT	0.587000													30	53					0	0	0.009535	0	0
CASC3	22794	broad.mit.edu	37	17	38324653	38324653	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr17:38324653C>G	ENST00000264645.7	+	11	2174	c.1948C>G	c.(1948-1950)Ctg>Gtg	p.L650V		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	650	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						ACCGCCTCATCTGTATCCTAA	0.463000											OREG0024392	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	72					0	0	0.001984	0	0
SIK1	150094	broad.mit.edu	37	21	44845317	44845317	+	Silent	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr21:44845317C>T	ENST00000270162.6	-	3	375	c.243G>A	c.(241-243)ctG>ctA	p.L81L		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	81	Protein kinase.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						GTGGATGGTTCAGAAGCTTCA	0.353000													8	14					0	0	0.004482	0	0
ERCC4	2072	broad.mit.edu	37	16	14042115	14042115	+	Silent	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr16:14042115C>T	ENST00000311895.7	+	11	2671	c.2662C>T	c.(2662-2664)Ctg>Ttg	p.L888L		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	888	Interaction with EME1 and ERCC1.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CACGAGTATTCTGGGGAATGC	0.458000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				23	52					0	0	0.012319	0	0
RPS18	6222	broad.mit.edu	37	6	33244237	33244237	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr6:33244237G>C	ENST00000439602.2	+	6	563	c.453G>C	c.(451-453)aaG>aaC	p.K151N	RPS18_ENST00000476222.1_3'UTR|RPS18_ENST00000474973.1_Missense_Mutation_p.K81N			P62269	RS18_HUMAN	ribosomal protein S18	151					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						TGTCCAAGAAGAAATAAGTCT	0.488000													6	18					0	0	0.001168	0	0
TMEM132E	124842	broad.mit.edu	37	17	32957083	32957083	+	Silent	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr17:32957083C>T	ENST00000321639.5	+	6	1453	c.1125C>T	c.(1123-1125)gtC>gtT	p.V375V		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	375						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCATCCCTGTCAAGGTCATTG	0.572000													8	30					0	0	0.003080	0	0
AGPAT9	84803	broad.mit.edu	37	4	84457852	84457852	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr4:84457852C>T	ENST00000395226.2	+	2	295	c.77C>T	c.(76-78)tCg>tTg	p.S26L	AGPAT9_ENST00000264409.4_Missense_Mutation_p.S26L	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	26					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CTTTTACCTTCGGTCTTCGGA	0.582000													7	26					0	0	0.001984	0	0
ZBTB45	84878	broad.mit.edu	37	19	59027763	59027763	+	Splice_Site	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr19:59027763C>T	ENST00000594051.1	-	2	1758	c.1278G>A	c.(1276-1278)tcG>tcA	p.S426S	ZBTB45_ENST00000600990.1_Splice_Site_p.S426S|ZBTB45_ENST00000354590.3_Splice_Site_p.S426S			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CTGGCTCACCCGAGTGGATGA	0.567000													10	21					0	0	0.006214	0	0
DHX37	57647	broad.mit.edu	37	12	125451354	125451354	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr12:125451354C>G	ENST00000308736.2	-	12	1673	c.1575G>C	c.(1573-1575)aaG>aaC	p.K525N	DHX37_ENST00000544745.1_Missense_Mutation_p.K312N	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	525	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CCCGCGCCTTCTTGGCCCTGG	0.602000													24	57					0	0	0.003330	0	0
ZNF574	64763	broad.mit.edu	37	19	42584283	42584283	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr19:42584283C>T	ENST00000600245.1	+	2	2180	c.1525C>T	c.(1525-1527)Cac>Tac	p.H509Y	ZNF574_ENST00000222339.7_Missense_Mutation_p.H599Y|ZNF574_ENST00000359044.4_Missense_Mutation_p.H509Y			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GAAGAAGTCTCACGTGCGTAA	0.602000													93	222					0	0	0.014410	0	0
DDOST	1650	broad.mit.edu	37	1	20980159	20980159	+	Missense_Mutation	SNP	C	C	G	rs144834631		TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr1:20980159C>G	ENST00000375048.3	-	8	1059	c.954G>C	c.(952-954)gaG>gaC	p.E318D	DDOST_ENST00000602624.2_Missense_Mutation_p.E301D|DDOST_ENST00000415136.2_Missense_Mutation_p.E281D	NM_005216.4	NP_005207	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)	318					innate immune response|post-translational protein modification|response to cytokine stimulus|T cell activation	integral to membrane|microsome|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GTGGGGCTGTCTCGCCCACCC	0.592000													4	35					0	0	0.009096	0	0
IL12RB1	3594	broad.mit.edu	37	19	18172996	18172996	+	Silent	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr19:18172996C>T	ENST00000600835.2	-	15	2008	c.1710G>A	c.(1708-1710)ctG>ctA	p.L570L	IL12RB1_ENST00000593993.2_Silent_p.L570L			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1						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			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GTTACCTGTTCAGGCCAAGGT	0.562000													8	21					0	0	0.004482	0	0
CASC3	22794	broad.mit.edu	37	17	38323834	38323834	+	Silent	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr17:38323834C>T	ENST00000264645.7	+	9	1846	c.1620C>T	c.(1618-1620)atC>atT	p.I540I		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	540	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CAGTGCATATCAGTATCATGG	0.517000													5	61					0	0	0.001168	0	0
BBS2	583	broad.mit.edu	37	16	56518757	56518757	+	Silent	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr16:56518757C>T	ENST00000245157.5	-	17	2502	c.2082G>A	c.(2080-2082)gtG>gtA	p.V694V	BBS2_ENST00000568104.1_Silent_p.V648V	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	694					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						AAGCAGTGATCACCTGGTTCT	0.388000									Bardet-Biedl syndrome				13	30					0	0	0.002450	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5186179	5186179	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr5:5186179C>T	ENST00000274181.7	+	5	916	c.778C>T	c.(778-780)Ccc>Tcc	p.P260S	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.P260S	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	260					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCCCCAGCCTCCCAAGGAAGA	0.483000													6	197					0	0	0.001984	0	0
ZBTB2	57621	broad.mit.edu	37	6	151687168	151687168	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr6:151687168C>T	ENST00000325144.4	-	3	1173	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		TTGTCAATGTCAGCAATGTCT	0.542000													32	65					0	0	0.008361	0	0
TNIP3	79931	broad.mit.edu	37	4	122085298	122085298	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr4:122085298G>C	ENST00000507879.1	-	4	252	c.193C>G	c.(193-195)Cca>Gca	p.P65A	TNIP3_ENST00000057513.3_5'UTR|TNIP3_ENST00000509841.1_Missense_Mutation_p.P72A|TNIP3_ENST00000454328.1_5'UTR	NM_001128843.2	NP_001122315.2	Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	77										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GTTTTTCCTGGAGTCTTGGAA	0.378000													22	37					0	0	0.010504	0	0
POMZP3	22932	broad.mit.edu	37	7	76254892	76254892	+	Silent	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr7:76254892C>T	ENST00000310842.4	-	3	858	c.174G>A	c.(172-174)agG>agA	p.R58R	UPK3B_ENST00000419923.2_Intron|POMZP3_ENST00000275569.4_Silent_p.R58R|UPK3B_ENST00000443097.2_Intron|AC004980.7_ENST00000418663.1_RNA	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	58										kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				CCTCCACTGTCCTTTTCTTCT	0.463000													56	146					0	0	0.014410	0	0
CCDC50	152137	broad.mit.edu	37	3	191107383	191107383	+	Missense_Mutation	SNP	C	C	G	rs146128834		TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr3:191107383C>G	ENST00000392455.3	+	10	1491	c.893C>G	c.(892-894)tCt>tGt	p.S298C	CCDC50_ENST00000392456.3_Missense_Mutation_p.S474C	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	298						cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		TCAGAGTCCTCTCATAAAGGT	0.398000													26	99					0	0	0.005443	0	0
SPTBN2	6712	broad.mit.edu	37	11	66454989	66454989	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr11:66454989G>C	ENST00000533211.1	-	35	6962	c.6631C>G	c.(6631-6633)Cga>Gga	p.R2211G	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2211G|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2211G			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2211					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCTGGGCCTCGAGGCGGCAGG	0.677000													26	42					0	0	0.006320	0	0
MTOR	2475	broad.mit.edu	37	1	11319377	11319377	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr1:11319377C>G	ENST00000361445.4	-	2	166	c.90G>C	c.(88-90)aaG>aaC	p.K30N		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	30					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CATTCCGGCTCTTTAGGCCAC	0.597000													40	88					0	0	0.008740	0	0
USMG5	84833	broad.mit.edu	37	10	105152202	105152202	+	Missense_Mutation	SNP	C	C	G	rs144686863		TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr10:105152202C>G	ENST00000369825.1	-	3	495	c.13G>C	c.(13-15)Gaa>Caa	p.E5Q	USMG5_ENST00000309579.3_Missense_Mutation_p.E5Q|USMG5_ENST00000369811.1_Missense_Mutation_p.E5Q|USMG5_ENST00000337003.4_Missense_Mutation_p.E5Q|USMG5_ENST00000369815.1_Missense_Mutation_p.E5Q			Q96IX5	USMG5_HUMAN	up-regulated during skeletal muscle growth 5 homolog (mouse)	5						integral to membrane				breast(1)	1		Colorectal(252;0.142)		Epithelial(162;3.94e-09)|all cancers(201;2.76e-08)|BRCA - Breast invasive adenocarcinoma(275;0.197)		GCATCACTTTCTGGACCTGCC	0.289000													8	32					0	0	0.006214	0	0
TMEM206	55248	broad.mit.edu	37	1	212558699	212558699	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr1:212558699G>T	ENST00000261455.4	-	4	549	c.412C>A	c.(412-414)Ctg>Atg	p.L138M	TMEM206_ENST00000535273.1_Missense_Mutation_p.L199M|TMEM206_ENST00000471937.1_5'UTR	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	138						integral to membrane				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		GGGCTTGTCAGAGGAGGAATG	0.547000													16	54					6.31663e-08	6.87134e-08	0.003163	1	0
BMP1	649	broad.mit.edu	37	8	22058657	22058657	+	Missense_Mutation	SNP	C	C	T	rs145042921		TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr8:22058657C>T	ENST00000306349.8	+	16	2288	c.2134C>T	c.(2134-2136)Cgg>Tgg	p.R712W	BMP1_ENST00000354870.5_Intron|BMP1_ENST00000306385.5_Intron	NM_001199.3	NP_001190.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	556	EGF-like 2; calcium-binding (Potential).				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	p.R712W(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GCAGCCCCCTCGGGGACGCCC	0.627000													54	56					0	0	0.014410	0	0
TBKBP1	9755	broad.mit.edu	37	17	45774088	45774088	+	Silent	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr17:45774088C>T	ENST00000361722.3	+	2	1086	c.237C>T	c.(235-237)atC>atT	p.I79I		NM_014726.2	NP_055541.1	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	79					innate immune response					endometrium(5)|kidney(1)|lung(1)	7						ACCCACTGATCAGTGACTTTG	0.597000													7	45					0	0	0.001984	0	0
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697000													5	15					0	0	0.001984	0	0
GTF2E1	2960	broad.mit.edu	37	3	120499998	120499998	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr3:120499998C>G	ENST00000283875.5	+	5	1094	c.1001C>G	c.(1000-1002)tCt>tGt	p.S334C		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	334					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		AAGACTTCCTCTGCCATGGCT	0.552000													9	21					0	0	0.004482	0	0
ZFP69B	65243	broad.mit.edu	37	1	40929091	40929091	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr1:40929091C>G	ENST00000411995.2	+	6	1810	c.1435C>G	c.(1435-1437)Cat>Gat	p.H479D	ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Missense_Mutation_p.H377D	NM_023070.2	NP_075558.2			ZFP69 zinc finger protein B																		TGAATGCAGTCATTGTGGGAA	0.378000													22	56					0	0	0.010504	0	0
TLCD1	116238	broad.mit.edu	37	17	27051776	27051776	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr17:27051776G>C	ENST00000292090.3	-	4	606	c.496C>G	c.(496-498)Ctc>Gtc	p.L166V	TLCD1_ENST00000394933.3_Missense_Mutation_p.L119V	NM_138463.3	NP_612472.1	Q96CP7	TLCD1_HUMAN	TLC domain containing 1	166	TLC.					integral to membrane				breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					CGGTAGAGGAGATGATCCTGG	0.488000													30	91					0	0	0.013726	0	0
SLC25A41	284427	broad.mit.edu	37	19	6426429	6426429	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr19:6426429C>T	ENST00000321510.6	-	7	1152	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K		NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	362					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						TTCATGGCTTCGTACACCACA	0.592000													15	28					0	0	0.003163	0	0
CSNK1G3	1456	broad.mit.edu	37	5	122923805	122923805	+	Silent	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr5:122923805C>T	ENST00000395412.1	+	7	1436	c.717C>T	c.(715-717)ttC>ttT	p.F239F	CSNK1G3_ENST00000361991.2_Silent_p.F239F|CSNK1G3_ENST00000512718.3_Silent_p.F164F|CSNK1G3_ENST00000395411.1_Silent_p.F239F|CSNK1G3_ENST00000345990.4_Silent_p.F239F|CSNK1G3_ENST00000510842.2_Silent_p.F239F|CSNK1G3_ENST00000521364.1_Silent_p.F239F|CSNK1G3_ENST00000360683.2_Silent_p.F239F|CSNK1G3_ENST00000511130.2_Silent_p.F126F			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	239	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		GTCATATGTTCATGTATTTTC	0.294000													30	38					0	0	0.012213	0	0
FBXO40	51725	broad.mit.edu	37	3	121345706	121345706	+	Silent	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr3:121345706G>A	ENST00000338040.4	+	4	2493	c.2079G>A	c.(2077-2079)gaG>gaA	p.E693E		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	693					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AGGCCCGAGAGAGCTTAGTCT	0.483000													18	41					0	0	0.004990	0	0
MBD6	114785	broad.mit.edu	37	12	57919626	57919626	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr12:57919626C>T	ENST00000355673.3	+	6	1231	c.875C>T	c.(874-876)tCa>tTa	p.S292L	MBD6_ENST00000431731.2_Missense_Mutation_p.S292L	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	292	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCAGTGTCTTCAGCCACTATG	0.662000													25	34					0	0	0.003954	0	0
RANBP1	5902	broad.mit.edu	37	22	20109874	20109874	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr22:20109874C>G	ENST00000402752.1	+	3	466	c.240C>G	c.(238-240)caC>caG	p.H80Q	RANBP1_ENST00000331821.3_Missense_Mutation_p.H80Q|RANBP1_ENST00000430524.1_5'UTR	NM_001278640.1	NP_001265569.1	P43487	RANG_HUMAN	RAN binding protein 1	80	RanBD1.				intracellular transport|signal transduction|viral reproduction	nuclear envelope	GDP-dissociation inhibitor activity|GTPase activator activity|Ran GTPase binding	p.K81fs*27(1)		breast(1)|large_intestine(1)|lung(1)|ovary(1)	4	Colorectal(54;0.0993)					TCCTGAAGCACAAGGAGAAAG	0.557000													20	39					0	0	0.010504	0	0
NOB1	28987	broad.mit.edu	37	16	69783014	69783014	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr16:69783014C>G	ENST00000268802.5	-	6	562	c.533G>C	c.(532-534)aGa>aCa	p.R178T		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	178						nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GTCCTCACCTCTGTCAATCTG	0.517000													20	46					0	0	0.012319	0	0
INTS5	80789	broad.mit.edu	37	11	62414680	62414680	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr11:62414680G>C	ENST00000330574.2	-	2	2924	c.2872C>G	c.(2872-2874)Cag>Gag	p.Q958E		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	958					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						ATGAACTTCTGAGGCAAGGGC	0.567000													75	149					0	0	0.014410	0	0
MYC	4609	broad.mit.edu	37	8	128750924	128750924	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr8:128750924C>G	ENST00000377970.2	+	2	971	c.461C>G	c.(460-462)tCg>tGg	p.S154W	MYC_ENST00000524013.1_Missense_Mutation_p.S153W|MYC_ENST00000259523.6_Missense_Mutation_p.S139W	NM_002467.4	NP_002458	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	139					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		AGCGGCTTCTCGGCCGCCGCC	0.622000		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	25					0	0	0.004482	0	0
BMP5	653	broad.mit.edu	37	6	55684502	55684502	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr6:55684502C>T	ENST00000370830.3	-	2	1332	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K	BMP5_ENST00000446683.2_Missense_Mutation_p.E212K	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	212					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTAATTGTTTCATTTTCAAAT	0.323000													15	27					0	0	0.003163	0	0
EVPL	2125	broad.mit.edu	37	17	74005100	74005100	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr17:74005100C>G	ENST00000301607.3	-	22	4439	c.4186G>C	c.(4186-4188)Gat>Cat	p.D1396H	EVPL_ENST00000586740.1_Missense_Mutation_p.D1418H	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1396	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						ACCTCCTCATCCAGGCTCCCG	0.697000													41	111					0	0	0.007835	0	0
ATG14	22863	broad.mit.edu	37	14	55862701	55862701	+	Splice_Site	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr14:55862701C>G	ENST00000247178.5	-	3	320		c.e3-1			NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14						autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						TTTTAACACTCTGTGAGGAAA	0.294000													9	16					0	0	0.004482	0	0
PPAT	5471	broad.mit.edu	37	4	57265347	57265347	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr4:57265347C>A	ENST00000264220.2	-	9	1371	c.1234G>T	c.(1234-1236)Gag>Tag	p.E412*		NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	412					glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	TTACTTACCTCTTTTGCACCA	0.313000													23	40					9.95505e-16	1.11776e-15	0.014323	1	0
ZNF451	26036	broad.mit.edu	37	6	57013278	57013278	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr6:57013278C>T	ENST00000370706.4	+	10	2639	c.2395C>T	c.(2395-2397)Cat>Tat	p.H799Y	ZNF451_ENST00000491832.2_Missense_Mutation_p.H799Y|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.H799Y|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	799					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CAAAGCATTTCATGATCCTGA	0.423000													15	33					0	0	0.003163	0	0
RANBP17	64901	broad.mit.edu	37	5	170341202	170341202	+	Silent	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr5:170341202C>T	ENST00000523189.1	+	8	956	c.792C>T	c.(790-792)ttC>ttT	p.F264F		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	264					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGATCTTTTCTTCAATTTGT	0.308000			T	TRD@	ALL								17	14					0	0	0.008871	0	0
FAM83H	286077	broad.mit.edu	37	8	144810877	144810877	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr8:144810877C>G	ENST00000388913.3	-	5	879	c.754G>C	c.(754-756)Gag>Cag	p.E252Q		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	252					biomineral tissue development					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)			TGGATCTTCTCAAAGGACCAC	0.657000													13	22					0	0	0.001855	0	0
SLC35B3	51000	broad.mit.edu	37	6	8422706	8422706	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr6:8422706G>A	ENST00000379660.4	-	5	1020	c.571C>T	c.(571-573)Caa>Taa	p.Q191*	SLC35B3_ENST00000339306.5_Nonsense_Mutation_p.Q191*	NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	191					transmembrane transport	Golgi membrane|integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					ACTATACCTTGAATAAAAACT	0.333000													12	28					0	0	0.010729	0	0
IL5RA	3568	broad.mit.edu	37	3	3133952	3133952	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr3:3133952C>T	ENST00000446632.2	-	9	1524	c.950G>A	c.(949-951)aGa>aAa	p.R317K	IL5RA_ENST00000438560.1_Missense_Mutation_p.R317K|IL5RA_ENST00000418488.2_Intron|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000311981.8_Missense_Mutation_p.R317K|IL5RA_ENST00000430514.2_Missense_Mutation_p.R317K|IL5RA_ENST00000383846.1_Missense_Mutation_p.R317K|IL5RA_ENST00000456302.1_Missense_Mutation_p.R317K|IL5RA_ENST00000256452.3_Missense_Mutation_p.R317K	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	317					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CCCTGCCTCTCTGCACATGGA	0.403000													13	48					0	0	0.001855	0	0
ZNF700	90592	broad.mit.edu	37	19	12059200	12059200	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr19:12059200C>G	ENST00000482090.1	+	3	725	c.307C>G	c.(307-309)Cct>Gct	p.P103A	ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.P121A|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	121	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GAAAGCTTCTCCTGAAGTAAA	0.403000													55	133					0	0	0.014410	0	0
EP400	57634	broad.mit.edu	37	12	132547066	132547066	+	Silent	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr12:132547066C>G	ENST00000333577.4	+	48	8371	c.8262C>G	c.(8260-8262)ctC>ctG	p.L2754L	EP400_ENST00000389561.2_Silent_p.L2718L|EP400_ENST00000332482.4_Silent_p.L2681L|EP400_ENST00000330386.6_Silent_p.L2637L|EP400_ENST00000389562.2_Silent_p.L2717L			Q96L91	EP400_HUMAN	E1A binding protein p400	2754	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCCAGCTTCTCAGgcagcagc	0.567000													22	42					0	0	0.003330	0	0
ARHGEF37	389337	broad.mit.edu	37	5	149003653	149003653	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr5:149003653C>T	ENST00000333677.6	+	10	1577	c.1414C>T	c.(1414-1416)Cgc>Tgc	p.R472C		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	472					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						TAACCAGCTTCGCTCCTTTCA	0.582000													22	24					0	0	0.010504	0	0
STAU2	27067	broad.mit.edu	37	8	74601043	74601043	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr8:74601043G>T	ENST00000355780.5	-	4	242	c.24C>A	c.(22-24)ttC>ttA	p.F8L	STAU2_ENST00000522509.1_Missense_Mutation_p.F8L|STAU2_ENST00000521451.1_Intron|STAU2_ENST00000519961.1_Missense_Mutation_p.F40L|STAU2_ENST00000517542.1_Missense_Mutation_p.F2L|STAU2_ENST00000521727.1_Missense_Mutation_p.F20L|STAU2_ENST00000521210.1_Intron|STAU2_ENST00000523558.1_Intron|STAU2_ENST00000522695.1_Missense_Mutation_p.F8L|STAU2_ENST00000522962.1_5'UTR|STAU2_ENST00000521419.1_Missense_Mutation_p.F2L|RP11-463D19.2_ENST00000358757.5_3'UTR|RP11-463D19.1_ENST00000533978.1_lincRNA|STAU2_ENST00000524104.1_Missense_Mutation_p.F8L|STAU2_ENST00000524300.1_Missense_Mutation_p.F40L	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	40	DRBM 1.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			GCTGCACTGAGAACATCTTAG	0.373000													47	72					2.24722e-20	2.54552e-20	0.014410	1	0
ATP13A3	79572	broad.mit.edu	37	3	194159590	194159590	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr3:194159590C>G	ENST00000439040.1	-	17	2613	c.1822G>C	c.(1822-1824)Gaa>Caa	p.E608Q	ATP13A3_ENST00000256031.4_Missense_Mutation_p.E608Q			Q9H7F0	AT133_HUMAN	ATPase type 13A3	608					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CTCACCATTTCTTGGTTTCCT	0.348000													20	58					0	0	0.012319	0	0
C12orf5	57103	broad.mit.edu	37	12	4446328	4446328	+	Splice_Site	SNP	T	T	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr12:4446328T>C	ENST00000179259.4	+	3	259		c.e3+2		C12orf5_ENST00000537251.1_Splice_Site	NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5							intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			ACAAAGCAGGTACatttattt	0.433000													9	25					0	0	0.004482	0	0
C11orf30	56946	broad.mit.edu	37	11	76253250	76253250	+	Silent	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr11:76253250C>T	ENST00000533248.1	+	15	2314	c.2275C>T	c.(2275-2277)Cta>Tta	p.L759L	C11orf30_ENST00000529032.1_Intron|C11orf30_ENST00000525038.1_Intron|C11orf30_ENST00000525919.1_Intron|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000524767.1_Intron|C11orf30_ENST00000334736.3_Intron|C11orf30_ENST00000524490.1_Intron			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	745					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						ATCACCTCCTCTATTTTCAGT	0.493000													41	105					0	0	0.006230	0	0
HUS1B	135458	broad.mit.edu	37	6	656236	656236	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr6:656236G>C	ENST00000380907.2	-	1	727	c.709C>G	c.(709-711)Ctg>Gtg	p.L237V	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	237										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		AAAAACTGCAGAAGCTTCCGA	0.483000													46	112					0	0	0.014410	0	0
PTPRC	5788	broad.mit.edu	37	1	198725306	198725306	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr1:198725306C>T	ENST00000367376.2	+	33	4082	c.3911C>T	c.(3910-3912)tCa>tTa	p.S1304L	PTPRC_ENST00000594404.1_Missense_Mutation_p.S1143L|PTPRC_ENST00000442510.2_Missense_Mutation_p.S1306L|PTPRC_ENST00000352140.3_Missense_Mutation_p.S1256L|PTPRC_ENST00000348564.6_Missense_Mutation_p.S1145L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1304					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AATCAAGGTTCATAGGAAAAG	0.413000													12	39					0	0	0.002450	0	0
NDUFV1	4723	broad.mit.edu	37	11	67378662	67378662	+	Silent	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr11:67378662G>C	ENST00000322776.6	+	6	1050	c.897G>C	c.(895-897)ctG>ctC	p.L299L	NDUFV1_ENST00000526169.1_3'UTR|NDUFV1_ENST00000532303.1_Silent_p.L198L|NDUFV1_ENST00000415352.2_Silent_p.L292L|NDUFV1_ENST00000529927.1_Silent_p.L290L	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	299					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	TGAAAGAACTGATTGAGAAGC	0.592000													14	37					0	0	0.002450	0	0
SLC4A7	9497	broad.mit.edu	37	3	27418302	27418302	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr3:27418302C>G	ENST00000295736.5	-	25	3668	c.3598G>C	c.(3598-3600)Gaa>Caa	p.E1200Q	SLC4A7_ENST00000435667.2_Missense_Mutation_p.E1121Q|SLC4A7_ENST00000446700.1_Missense_Mutation_p.E1192Q|SLC4A7_ENST00000445684.1_Missense_Mutation_p.E1196Q|SLC4A7_ENST00000455077.1_Missense_Mutation_p.E1117Q|SLC4A7_ENST00000440156.1_Missense_Mutation_p.E1232Q|SLC4A7_ENST00000454389.1_Missense_Mutation_p.E1245Q|SLC4A7_ENST00000428386.1_Missense_Mutation_p.E1076Q|SLC4A7_ENST00000388777.4_Missense_Mutation_p.E786Q|SLC4A7_ENST00000437179.1_Missense_Mutation_p.E1081Q|SLC4A7_ENST00000425128.2_3'UTR	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1200						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						GGTTCATCTTCAAAACTTATT	0.264000													11	38					0	0	0.013537	0	0
KIF1B	23095	broad.mit.edu	37	1	10380107	10380107	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr1:10380107G>T	ENST00000377086.1	+	23	2324	c.2122G>T	c.(2122-2124)Gag>Tag	p.E708*	KIF1B_ENST00000263934.6_Nonsense_Mutation_p.E662*|KIF1B_ENST00000377081.1_Nonsense_Mutation_p.E708*			O60333	KIF1B_HUMAN	kinesin family member 1B	708					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			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)		tCAGGACTATGAGAGTAAATT	0.438000													10	22					0.000673444	0.000706564	0.008291	1	0
MYH13	8735	broad.mit.edu	37	17	10247123	10247123	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr17:10247123C>G	ENST00000418404.3	-	15	2051	c.1888G>C	c.(1888-1890)Gag>Cag	p.E630Q	MYH13_ENST00000252172.4_Missense_Mutation_p.E630Q			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	630	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTACCTGTCTCTGCACCAGCA	0.468000													5	16					0	0	0.000602	0	0
NME1	4830	broad.mit.edu	37	17	49239126	49239126	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr17:49239126G>C	ENST00000336097.3	+	6	690	c.454G>C	c.(454-456)Gag>Cag	p.E152Q	NME1_ENST00000393196.3_Missense_Mutation_p.E127Q|NME1_ENST00000511355.1_3'UTR|NME2_ENST00000376392.6_Intron|NME1-NME2_ENST00000393198.3_Intron|NME2_ENST00000393193.2_Intron|NME1-NME2_ENST00000608447.1_Intron|NME1_ENST00000013034.3_Missense_Mutation_p.E152Q|NME2_ENST00000555572.1_Intron	NM_198175.1	NP_937818.1			NME/NM23 nucleoside diphosphate kinase 1											endometrium(1)|large_intestine(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			GGAGAGTGCAGAGAAGGAGAT	0.483000													17	61					0	0	0.014323	0	0
LPP	4026	broad.mit.edu	37	3	188242483	188242483	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr3:188242483A>G	ENST00000312675.4	+	5	583	c.337A>G	c.(337-339)Agg>Ggg	p.R113G	LPP_ENST00000543006.1_Missense_Mutation_p.R113G|LPP_ENST00000448637.1_Missense_Mutation_p.R113G	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	113	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		ACTTGAGGAGAGGCGCTCCAG	0.502000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								34	62					0	0	0.010818	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95191898	95191898	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr4:95191898C>G	ENST00000354268.4	+	11	1574	c.1501C>G	c.(1501-1503)Cag>Gag	p.Q501E	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.Q501E|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.Q71E			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	501					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		CAAGCCCTATCAGAAGGTTGG	0.328000													26	51					0	0	0.005443	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31973474	31973474	+	Silent	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr20:31973474C>T	ENST00000357886.4	-	7	1011	c.858G>A	c.(856-858)gtG>gtA	p.V286V	CDK5RAP1_ENST00000473997.1_Silent_p.V196V|CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000544843.1_Silent_p.V286V|CDK5RAP1_ENST00000346416.2_Silent_p.V286V|CDK5RAP1_ENST00000339269.5_Silent_p.V286V			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	286					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						AAAGCTTCTTCACTTCCTCTA	0.498000													20	56					0	0	0.014323	0	0
RPL23	9349	broad.mit.edu	37	17	37008985	37008985	+	Splice_Site	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr17:37008985C>T	ENST00000479035.2	-	3	230	c.98G>A	c.(97-99)gGa>gAa	p.G33E	RPL23_ENST00000394332.1_Splice_Site_p.G33E|RPL23_ENST00000394333.1_Splice_Site_p.G33E|RPL23_ENST00000245857.5_5'UTR|RPL23_ENST00000577407.1_Splice_Site_p.G33E	NM_000978.3	NP_000969.1	P62829	RL23_HUMAN	ribosomal protein L23	33					endocrine pancreas development|ribosomal protein import into nucleus|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome			endometrium(2)|large_intestine(1)	3						GTTTTTGGCTCCTACAAAAGA	0.473000													43	44					0	0	0.007835	0	0
STAG2	10735	broad.mit.edu	37	X	123196764	123196764	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chrX:123196764A>T	ENST00000371160.1	+	18	1941	c.1651A>T	c.(1651-1653)Aag>Tag	p.K551*	STAG2_ENST00000371145.3_Nonsense_Mutation_p.K551*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Nonsense_Mutation_p.K551*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.K551*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.K551*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.K482*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	551					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GCTTACAGCAAAGGAGAAGAA	0.358000													19	12					0	0	0.007413	0	0
PHLDA3	23612	broad.mit.edu	37	1	201437606	201437606	+	Silent	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr1:201437606G>A	ENST00000367311.3	-	1	706	c.309C>T	c.(307-309)gtC>gtT	p.V103V	PHLDA3_ENST00000367309.1_Silent_p.V103V|PHLDA3_ENST00000485436.1_5'UTR	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	103	PH.				anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade	cytoplasm|intracellular membrane-bounded organelle|plasma membrane	identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding			lung(1)|prostate(1)	2						TCTTGAACTTGACCAGGCCTA	0.637000													30	69					0	0	0.008361	0	0
ZNF365	22891	broad.mit.edu	37	10	64159292	64159292	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr10:64159292G>A	ENST00000395254.3	+	5	1248	c.968G>A	c.(967-969)cGa>cAa	p.R323Q	ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000410046.3_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0								p.R323L(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TGTAGAAGCCGAGGGCACCCG	0.483000													7	59					0	0	0.001984	0	0
B2M	567	broad.mit.edu	37	15	45003774	45003774	+	Silent	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr15:45003774C>G	ENST00000558401.1	+	1	100	c.30C>G	c.(28-30)ctC>ctG	p.L10L	B2M_ENST00000559916.1_Silent_p.L10L|B2M_ENST00000544417.1_Silent_p.L10L	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	10					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TAGCTGTGCTCGCGCTACTCT	0.617000													9	42					0	0	0.010729	0	0
PSAT1	29968	broad.mit.edu	37	9	80919828	80919828	+	Silent	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr9:80919828C>T	ENST00000376588.3	+	4	437	c.369C>T	c.(367-369)atC>atT	p.I123I	PSAT1_ENST00000347159.2_Silent_p.I123I	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	123					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	CTATAAATATCGTTCACCCTA	0.502000													9	24					0	0	0.006214	0	0
CDON	50937	broad.mit.edu	37	11	125830980	125830980	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr11:125830980C>T	ENST00000392693.3	-	20	3848	c.3721G>A	c.(3721-3723)Gaa>Aaa	p.E1241K	CDON_ENST00000263577.7_Missense_Mutation_p.E1218K|CDON_ENST00000531738.1_Missense_Mutation_p.E595K	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	1241					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			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)		ATCTCTGTTTCTGAATGGGCA	0.443000													7	13					0	0	0.003080	0	0
CEACAM18	729767	broad.mit.edu	37	19	51984907	51984907	+	Silent	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr19:51984907C>T	ENST00000396477.4	+	3	682	c.661C>T	c.(661-663)Ctg>Ttg	p.L221L	CEACAM18_ENST00000451626.1_Silent_p.L282L	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	282			L -> H (in dbSNP:rs8106673).			integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ACGCATCTCTCTGACTGTGGC	0.527000													11	18					0	0	0.010729	0	0
MDN1	23195	broad.mit.edu	37	6	90374212	90374212	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr6:90374212C>T	ENST00000369393.3	-	85	14345	c.14230G>A	c.(14230-14232)Gaa>Aaa	p.E4744K	MDN1_ENST00000428876.1_Missense_Mutation_p.E4744K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4744					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.E4744Q(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAACCTTGTTCTTCAAGCTCC	0.353000													32	93					0	0	0.003271	0	0
COL19A1	1310	broad.mit.edu	37	6	70886415	70886415	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr6:70886415G>A	ENST00000322773.4	+	42	2728	c.2626G>A	c.(2626-2628)Gat>Aat	p.D876N	COL19A1_ENST00000393344.1_Missense_Mutation_p.D498N	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	876	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.D876N(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCAACAGGGAGATCGAGGCCC	0.378000													7	26					0	0	0.001984	0	0
RASAL3	64926	broad.mit.edu	37	19	15562912	15562912	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr19:15562912C>G	ENST00000343625.7	-	17	2921	c.2836G>C	c.(2836-2838)Gag>Cag	p.E946Q		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3						negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GAATCAAACTCTGAGCTCCTG	0.607000													31	70					0	0	0.008361	0	0
ZNF440	126070	broad.mit.edu	37	19	11943141	11943141	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr19:11943141C>T	ENST00000304060.5	+	4	1314	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CAGTTCCCTTCGATATCATGA	0.433000													26	56					0	0	0.003954	0	0
LRCH2	57631	broad.mit.edu	37	X	114357122	114357122	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chrX:114357122G>T	ENST00000317135.8	-	20	2176	c.2146C>A	c.(2146-2148)Ctt>Att	p.L716I	LRCH2_ENST00000538422.1_Missense_Mutation_p.L699I	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	716	CH.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						CAAGCATCAAGAAAATTTTCT	0.323000													4	7					1.23904e-05	1.32164e-05	0.000602	1	0
SEMA3A	10371	broad.mit.edu	37	7	83636753	83636753	+	Silent	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr7:83636753G>A	ENST00000265362.4	-	10	1370	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F	SEMA3A_ENST00000436949.1_Silent_p.F352F	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A		Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ATGGACCAAGGAACACCCTTC	0.453000													16	43					0	0	0.003163	0	0
NBEAL1	65065	broad.mit.edu	37	2	204075686	204075686	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr2:204075686G>C	ENST00000449802.1	+	53	8037	c.7704G>C	c.(7702-7704)aaG>aaC	p.K2568N		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2568							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTCAGGATAAGAATGCATTAC	0.289000													8	20					0	0	0.003080	0	0
UNC5C	8633	broad.mit.edu	37	4	96123972	96123972	+	Silent	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr4:96123972G>C	ENST00000453304.1	-	12	2394	c.2046C>G	c.(2044-2046)ctC>ctG	p.L682L		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	682					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGGCCAGCTTGAGGCGCTTCG	0.587000													15	51					0	0	0.003163	0	0
GAS8	2622	broad.mit.edu	37	16	90103657	90103657	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr16:90103657G>A	ENST00000268699.4	+	7	896	c.774G>A	c.(772-774)atG>atA	p.M258I	GAS8_ENST00000536122.1_Missense_Mutation_p.M233I|GAS8_ENST00000540721.1_3'UTR	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	258	Microtubule-binding.				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		TGGAGGACATGCGGAAGAAGG	0.637000													9	15					0	0	0.006214	0	0
UBE2L3	7332	broad.mit.edu	37	22	21975863	21975863	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr22:21975863G>T	ENST00000342192.4	+	4	568	c.370G>T	c.(370-372)Gac>Tac	p.D124Y	UBE2L3_ENST00000545681.1_Missense_Mutation_p.D92Y|UBE2L3_ENST00000458578.2_Missense_Mutation_p.D182Y	NM_003347.3	NP_003338.1	P68036	UB2L3_HUMAN	ubiquitin-conjugating enzyme E2L 3	124					cell proliferation|cellular response to glucocorticoid stimulus|protein K11-linked ubiquitination|regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	ATP binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity		UBE2L3/KRAS(2)	large_intestine(4)	4	Colorectal(54;0.105)					GCTTCGGGCTGACCTAGCTGA	0.473000													8	21					5.18039e-06	5.54114e-06	0.003080	1	0
TRRAP	8295	broad.mit.edu	37	7	98581745	98581745	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr7:98581745C>A	ENST00000359863.4	+	60	9273	c.9064C>A	c.(9064-9066)Cag>Aag	p.Q3022K	TRRAP_ENST00000446306.3_Missense_Mutation_p.Q2993K|TRRAP_ENST00000355540.3_Missense_Mutation_p.Q2993K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3022	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAATAGCTCTCAGCATGATCC	0.453000													21	60					3.62473e-10	3.98824e-10	0.012319	1	0
DPYS	1807	broad.mit.edu	37	8	105456483	105456483	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr8:105456483C>A	ENST00000351513.2	-	4	918	c.786G>T	c.(784-786)agG>agT	p.R262S		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	262					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TACCATCTCTCCTTGCATCCG	0.483000													8	26					5.18039e-06	5.54114e-06	0.003080	1	0
KRTAP24-1	643803	broad.mit.edu	37	21	31655195	31655195	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr21:31655195G>C	ENST00000340345.4	-	1	81	c.56C>G	c.(55-57)tCa>tGa	p.S19*		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	19						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						AGTTCTGTATGATGTGGTACT	0.493000													10	52					0	0	0.008291	0	0
MAP2K5	5607	broad.mit.edu	37	15	68040934	68040934	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr15:68040934G>A	ENST00000178640.5	+	19	1756	c.1129G>A	c.(1129-1131)Gat>Aat	p.D377N	MAP2K5_ENST00000354498.5_Missense_Mutation_p.D341N|MAP2K5_ENST00000395476.2_Missense_Mutation_p.D367N|MAP2K5_ENST00000340972.4_Missense_Mutation_p.D187N	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	377	Protein kinase.				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						GTGCATTGTTGATGAGGTGAG	0.403000													14	34					0	0	0.002450	0	0
TCHH	7062	broad.mit.edu	37	1	152081424	152081424	+	Silent	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr1:152081424C>T	ENST00000368804.1	-	2	4268	c.4269G>A	c.(4267-4269)ctG>ctA	p.L1423L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1423	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTGGCGGCTCAGCTGCTGTT	0.582000											OREG0031687	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	44	97					0	0	0.009718	0	0
FBXW7	55294	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								41	82					0	0	0.006999	0	0
TMEFF2	23671	broad.mit.edu	37	2	193049155	193049155	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr2:193049155C>T	ENST00000409056.3	-	3	336	c.337G>A	c.(337-339)Gag>Aag	p.E113K	TMEFF2_ENST00000392314.1_Missense_Mutation_p.E113K|TMEFF2_ENST00000272771.5_Missense_Mutation_p.E113K			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	113	Kazal-like 1.					extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			AGGTAACACTCATTCTGGTAG	0.468000													14	27					0	0	0.001855	0	0
CACNA1S	779	broad.mit.edu	37	1	201038623	201038623	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr1:201038623G>A	ENST00000362061.3	-	18	2693	c.2467C>T	c.(2467-2469)Cgg>Tgg	p.R823W	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R823W	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	823					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GAATCAGCCCGGATGGGGTCT	0.597000													8	7					0	0	0.004482	0	0
STOM	2040	broad.mit.edu	37	9	124115566	124115566	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr9:124115566G>C	ENST00000286713.2	-	4	270	c.253C>G	c.(253-255)Ctg>Gtg	p.L85V	STOM_ENST00000538954.1_Missense_Mutation_p.L34V|STOM_ENST00000347359.2_Intron	NM_001270526.1|NM_004099.5	NP_001257455.1|NP_004090.4	P27105	STOM_HUMAN	stomatin	85					protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding			endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		GTGCATGGCAGAATAAAAAAC	0.368000													10	12					0	0	0.006214	0	0
LRP1B	53353	broad.mit.edu	37	2	141359179	141359179	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr2:141359179G>C	ENST00000389484.3	-	42	7800	c.6829C>G	c.(6829-6831)Cac>Gac	p.H2277D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2277					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGGCTCTGTGATAGGCAAGT	0.448000										TSP Lung(27;0.18)			13	21					0	0	0.013537	0	0
NOTCH4	4855	broad.mit.edu	37	6	32170312	32170312	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr6:32170312C>T	ENST00000375023.3	-	21	3434	c.3296G>A	c.(3295-3297)gGa>gAa	p.G1099E		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1099	EGF-like 28.				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.G1099E(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						ACACAGGCCTCCGTGGTGGCA	0.627000													10	21					0	0	0.010729	0	0
NEU3	10825	broad.mit.edu	37	11	74716489	74716489	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr11:74716489C>T	ENST00000294064.4	+	3	1265	c.338C>T	c.(337-339)aCa>aTa	p.T113I	NEU3_ENST00000531619.1_3'UTR|NEU3_ENST00000529024.1_Silent_p.H42H|NEU3_ENST00000545272.1_Missense_Mutation_p.T4I|NEU3_ENST00000531509.1_Missense_Mutation_p.T113I|NEU3_ENST00000544263.1_Missense_Mutation_p.T80I|NEU3_ENST00000532963.1_Silent_p.H42H	NM_006656.5	NP_006647.3	A8K327	A8K327_HUMAN	sialidase 3 (membrane sialidase)	113										kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						ATGGAAGCCACACTACCGGGG	0.507000													8	18					0	0	0.003080	0	0
TAS2R5	54429	broad.mit.edu	37	7	141491028	141491028	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr7:141491028G>C	ENST00000247883.4	+	1	1012	c.867G>C	c.(865-867)aaG>aaC	p.K289N		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	289					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					TCCTGTGGAAGACAGTGTGTG	0.498000													52	86					0	0	0.014410	0	0
TSEN54	283989	broad.mit.edu	37	17	73515090	73515090	+	Silent	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr17:73515090G>A	ENST00000333213.6	+	6	519	c.483G>A	c.(481-483)ctG>ctA	p.L161L	TSEN54_ENST00000580013.1_3'UTR	NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	161					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCAGCCACCTGAAGAGGTTGG	0.468000													101	117					0	0	0.014410	0	0
DDX42	11325	broad.mit.edu	37	17	61895410	61895410	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr17:61895410G>C	ENST00000578681.1	+	19	3070	c.2469G>C	c.(2467-2469)gaG>gaC	p.E823D	DDX42_ENST00000582985.1_Intron|DDX42_ENST00000583590.1_Missense_Mutation_p.E823D|DDX42_ENST00000359353.5_Missense_Mutation_p.E704D|DDX42_ENST00000457800.2_Missense_Mutation_p.E823D|DDX42_ENST00000389924.2_Missense_Mutation_p.E823D	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	823	Gly-rich.|His-rich.|Necessary for interaction with TP53BP2.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GTCACGGAGAGACTGGCAATC	0.572000													15	62					0	0	0.002450	0	0
PSG1	5669	broad.mit.edu	37	19	43372456	43372456	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr19:43372456C>T	ENST00000244296.2	-	5	1177	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E	PSG1_ENST00000595356.1_Missense_Mutation_p.G347E|PSG1_ENST00000403380.3_Missense_Mutation_p.G254E|PSG1_ENST00000436291.2_Missense_Mutation_p.G347E|PSG1_ENST00000595124.1_Missense_Mutation_p.G254E|PSG1_ENST00000312439.6_Missense_Mutation_p.G347E	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GAGGACTTCTCCTGAACGGTA	0.468000													5	122					0	0	0.003080	0	0
HAUS3	79441	broad.mit.edu	37	4	2242511	2242511	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr4:2242511C>G	ENST00000243706.4	-	2	392	c.163G>C	c.(163-165)Gaa>Caa	p.E55Q	HAUS3_ENST00000443786.2_Missense_Mutation_p.E55Q|HAUS3_ENST00000506763.1_Missense_Mutation_p.E55Q|POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	55					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AATTCTCTTTCAGACAACACG	0.408000													44	74					0	0	0.013114	0	0
RPS6KA3	6197	broad.mit.edu	37	X	20236925	20236925	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chrX:20236925G>C	ENST00000379548.4	-	1	54	c.32C>G	c.(31-33)tCt>tGt	p.S11C	RPS6KA3_ENST00000540702.1_Intron|RPS6KA3_ENST00000544447.1_Intron|RPS6KA3_ENST00000379565.3_Intron			P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	0					axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|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|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						TACCTGTATAGAGCGAACACG	0.313000													14	8					0	0	0.004007	0	0
NOD1	10392	broad.mit.edu	37	7	30485766	30485766	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr7:30485766G>A	ENST00000222823.4	-	9	2969	c.2444C>T	c.(2443-2445)tCt>tTt	p.S815F		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	815					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CCCAACCTCAGAGATTGATTT	0.488000													24	42					0	0	0.006320	0	0
CTSF	8722	broad.mit.edu	37	11	66332410	66332410	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr11:66332410C>G	ENST00000310325.5	-	9	1222	c.1113G>C	c.(1111-1113)gaG>gaC	p.E371D		NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	371					proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CCTTGGCCTTCTCTGCTGAGA	0.607000													34	51					0	0	0.013726	0	0
PREPL	9581	broad.mit.edu	37	2	44549007	44549007	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr2:44549007G>A	ENST00000541738.1	-	13	2172	c.1786C>T	c.(1786-1788)Cag>Tag	p.Q596*	PREPL_ENST00000378520.3_Nonsense_Mutation_p.Q619*|PREPL_ENST00000378511.3_Nonsense_Mutation_p.Q623*|PREPL_ENST00000409411.1_Nonsense_Mutation_p.Q596*|PREPL_ENST00000409957.1_Nonsense_Mutation_p.Q596*|PREPL_ENST00000409936.1_Nonsense_Mutation_p.Q685*|PREPL_ENST00000410081.1_Nonsense_Mutation_p.Q685*|PREPL_ENST00000409272.1_Nonsense_Mutation_p.Q685*|PREPL_ENST00000260648.6_Nonsense_Mutation_p.Q685*	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	685					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCTCCAGGCTGAATATCTAGA	0.393000													17	33					0	0	0.004990	0	0
SVIL	6840	broad.mit.edu	37	10	29752455	29752455	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr10:29752455C>A	ENST00000375398.2	-	37	6692	c.6243G>T	c.(6241-6243)aaG>aaT	p.K2081N	SVIL_ENST00000535393.1_Missense_Mutation_p.K995N|SVIL_ENST00000375400.3_Missense_Mutation_p.K1655N|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000355867.4_Missense_Mutation_p.K2081N|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000455774.1_RNA			O95425	SVIL_HUMAN	supervillin	2081					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			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)				CCATCGCACTCTTCCGGTCGG	0.602000													6	17					3.59834e-05	3.8065e-05	0.001168	1	0
PCDHB2	56133	broad.mit.edu	37	5	140475929	140475929	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr5:140475929C>A	ENST00000194155.4	+	1	1703	c.1555C>A	c.(1555-1557)Cag>Aag	p.Q519K		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		519	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCGCTCTCCAGTCGCTGGA	0.716000													4	119					0.000602214	0.000635303	0.000602	1	0
TMEM63C	57156	broad.mit.edu	37	14	77706871	77706871	+	Silent	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr14:77706871C>T	ENST00000298351.4	+	13	1128	c.984C>T	c.(982-984)ttC>ttT	p.F328F		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	328						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CGGACGAGTTCAACGCCGAGC	0.637000													7	11					0	0	0.001984	0	0
IQSEC1	9922	broad.mit.edu	37	3	12949940	12949940	+	Silent	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr3:12949940C>T	ENST00000273221.4	-	12	2922	c.2706G>A	c.(2704-2706)ctG>ctA	p.L902L		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	902					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGCCCGGCTCAGTGTTCCGT	0.647000													24	30					0	0	0.014323	0	0
ARID2	196528	broad.mit.edu	37	12	46211536	46211536	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr12:46211536G>A	ENST00000334344.6	+	5	674	c.502G>A	c.(502-504)Gga>Aga	p.G168R	ARID2_ENST00000422737.1_Missense_Mutation_p.G19R	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	168					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACTGTTATCTGGACTCCCAAA	0.358000			"""N, S, F"""		hepatocellular carcinoma								13	37					0	0	0.001855	0	0
SNX19	399979	broad.mit.edu	37	11	130784459	130784459	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr11:130784459C>T	ENST00000265909.4	-	1	1945	c.1376G>A	c.(1375-1377)gGa>gAa	p.G459E	SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.G459E|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000539184.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	459					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GGTAACATCTCCTTGTTCTAT	0.537000													20	45					0	0	0.008871	0	0
SENP5	205564	broad.mit.edu	37	3	196650364	196650364	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr3:196650364C>G	ENST00000323460.5	+	7	2213	c.1964C>G	c.(1963-1965)tCt>tGt	p.S655C	SENP5_ENST00000419026.1_Missense_Mutation_p.S145C|SENP5_ENST00000445299.2_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	655	Protease.				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		GTGACACTCTCTAATCGAATT	0.318000													26	63					0	0	0.003330	0	0
CDRT1	374286	broad.mit.edu	37	17	15522516	15522516	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr17:15522516G>A	ENST00000395906.3	-	1	310	c.311C>T	c.(310-312)tCc>tTc	p.S104F	RP11-385D13.1_ENST00000455584.2_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	104										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		GTTCAAGGAGGACTTCACAAC	0.428000													47	57					0	0	0.014410	0	0
INTS8	55656	broad.mit.edu	37	8	95888689	95888689	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr8:95888689G>C	ENST00000523731.1	+	26	2976	c.2843G>C	c.(2842-2844)aGa>aCa	p.R948T	INTS8_ENST00000447247.1_Missense_Mutation_p.R931T	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	948					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					CATCATAAAAGAGGAGAAACA	0.289000													7	16					0	0	0.003080	0	0
TTC40	54777	broad.mit.edu	37	10	134623964	134623964	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr10:134623964C>T	ENST00000368586.5	-	57	7713	c.7613G>A	c.(7612-7614)aGa>aAa	p.R2538K	TTC40_ENST00000263170.5_Missense_Mutation_p.R699K	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	699										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CGCACTGTTTCTCCAATTGGC	0.627000													29	58					0	0	0.008361	0	0
MIR1179	100302235	broad.mit.edu	37	15	89151351	89151351	+	RNA	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr15:89151351G>A	ENST00000408703.1	+	0	14					NR_031590.1																						TGGAAAGGAAGAAGCATTCTT	0.378000													6	141					0	0	0.001984	0	0
POLR1A	25885	broad.mit.edu	37	2	86266519	86266519	+	Silent	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr2:86266519G>C	ENST00000263857.6	-	26	4185	c.3807C>G	c.(3805-3807)ctC>ctG	p.L1269L	POLR1A_ENST00000409681.1_Silent_p.L1269L			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1269					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TCTTGGTGTTGAGCACGGGCA	0.542000													70	182					0	0	0.014410	0	0
MLH1	4292	broad.mit.edu	37	3	37042445	37042445	+	Splice_Site	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr3:37042445G>A	ENST00000231790.2	+	3	423		c.e3-1		MLH1_ENST00000458205.2_Splice_Site|MLH1_ENST00000435176.1_Splice_Site|MLH1_ENST00000536378.1_Splice_Site|MLH1_ENST00000492474.1_Splice_Site|MLH1_ENST00000455445.2_Splice_Site|MLH1_ENST00000539477.1_Splice_Site	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1						mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						GTATCTAACAGAAAGAAGATC	0.338000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				8	26					0	0	0.004482	0	0
MFAP5	8076	broad.mit.edu	37	12	8802152	8802152	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr12:8802152G>C	ENST00000359478.2	-	9	541	c.354C>G	c.(352-354)atC>atG	p.I118M	MFAP5_ENST00000433590.2_Missense_Mutation_p.I93M|MFAP5_ENST00000396549.2_Missense_Mutation_p.I108M|MFAP5_ENST00000540087.1_Missense_Mutation_p.I108M|MFAP5_ENST00000543369.1_Missense_Mutation_p.I96M|MFAP5_ENST00000535336.1_Intron	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	118						microfibril	extracellular matrix structural constituent			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					CCTTGTTGACGATGTACATAC	0.468000													3	52					0	0	0.004672	0	0
ITGB1	3688	broad.mit.edu	37	10	33218789	33218789	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr10:33218789G>C	ENST00000396033.2	-	4	472	c.337C>G	c.(337-339)Cag>Gag	p.Q113E	ITGB1_ENST00000374956.4_Missense_Mutation_p.Q113E|ITGB1_ENST00000302278.3_Missense_Mutation_p.Q113E|ITGB1_ENST00000423113.1_Missense_Mutation_p.Q113E|ITGB1_ENST00000484088.1_5'UTR	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	113					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				GGTTGGATCTGAGTAATATCC	0.423000													65	148					0	0	0.014410	0	0
NUP155	9631	broad.mit.edu	37	5	37294435	37294435	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr5:37294435G>A	ENST00000231498.3	-	33	4129	c.3926C>T	c.(3925-3927)tCa>tTa	p.S1309L	NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000381843.2_Missense_Mutation_p.S1250L|NUP155_ENST00000513532.1_Missense_Mutation_p.S1245L	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1309					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCTTACCCGTGATTTGAACAA	0.303000													4	8					0	0	0.009096	0	0
MAP3K11	4296	broad.mit.edu	37	11	65375760	65375760	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr11:65375760G>A	ENST00000309100.3	-	2	1384	c.899C>T	c.(898-900)tCt>tTt	p.S300F	MAP3K11_ENST00000530153.1_Missense_Mutation_p.S43F	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	300	Protein kinase.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						ACTGCCCTTAGAGAAGGTGGA	0.632000													9	19					0	0	0.004482	0	0
EYA1	2138	broad.mit.edu	37	8	72128960	72128960	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr8:72128960C>G	ENST00000340726.3	-	14	1966	c.1327G>C	c.(1327-1329)Gag>Cag	p.E443Q	EYA1_ENST00000303824.7_Missense_Mutation_p.E437Q|EYA1_ENST00000419131.1_Missense_Mutation_p.E408Q|EYA1_ENST00000388743.2_Missense_Mutation_p.E442Q|EYA1_ENST00000388742.4_Missense_Mutation_p.E443Q|EYA1_ENST00000388740.3_Missense_Mutation_p.E410Q|EYA1_ENST00000388741.2_Missense_Mutation_p.E409Q	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	443					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TTGTAGATCTCTTTTACCCGT	0.463000													28	59					0	0	0.010818	0	0
SVIL	6840	broad.mit.edu	37	10	29752505	29752505	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr10:29752505C>T	ENST00000375398.2	-	37	6642	c.6193G>A	c.(6193-6195)Gag>Aag	p.E2065K	SVIL_ENST00000535393.1_Missense_Mutation_p.E979K|SVIL_ENST00000375400.3_Missense_Mutation_p.E1639K|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000355867.4_Missense_Mutation_p.E2065K|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000455774.1_RNA			O95425	SVIL_HUMAN	supervillin	2065					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			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)				ATCTTGTTCTCGATGGGCCAC	0.587000													13	22					0	0	0.013537	0	0
ZNF845	91664	broad.mit.edu	37	19	53855148	53855148	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr19:53855148G>C	ENST00000458035.1	+	4	1337	c.1220G>C	c.(1219-1221)gGa>gCa	p.G407A	ZNF845_ENST00000595091.1_Missense_Mutation_p.G407A	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						CTTCATACTGGAGAGAAACCT	0.413000													35	104					0	0	0.012213	0	0
NDUFV1	4723	broad.mit.edu	37	11	67378957	67378957	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr11:67378957G>A	ENST00000322776.6	+	7	1150	c.997G>A	c.(997-999)Gag>Aag	p.E333K	NDUFV1_ENST00000526169.1_Intron|NDUFV1_ENST00000532303.1_Missense_Mutation_p.E232K|NDUFV1_ENST00000415352.2_Missense_Mutation_p.E326K|NDUFV1_ENST00000529927.1_Missense_Mutation_p.E324K	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	333					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	GTCTGTGTGTGAGACGGTGCT	0.642000													8	15					0	0	0.006214	0	0
KATNB1	10300	broad.mit.edu	37	16	57775676	57775676	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr16:57775676G>A	ENST00000379661.3	+	3	510	c.118G>A	c.(118-120)Ggg>Agg	p.G40R		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	40	Interaction with centrosomes.|Interaction with dynein (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				GGCTACAGGCGGGGATGACTG	0.642000													13	13					0	0	0.002450	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133661493	133661493	+	Silent	SNP	C	C	G	rs145832999	byFrequency	TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr3:133661493C>G	ENST00000310926.4	-	11	1854	c.1581G>C	c.(1579-1581)ctG>ctC	p.L527L	SLCO2A1_ENST00000493729.1_Silent_p.L451L	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	527					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						TGCAGGCTATCAGGGACACGA	0.602000													14	23					0	0	0.004990	0	0
FCN1	2219	broad.mit.edu	37	9	137804865	137804865	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr9:137804865C>G	ENST00000371806.3	-	6	556	c.465G>C	c.(463-465)tgG>tgC	p.W155C		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	155	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CACTCACGGTCCAGCCCCCTC	0.637000													6	5					0	0	0.001168	0	0
MDN1	23195	broad.mit.edu	37	6	90374320	90374320	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr6:90374320C>G	ENST00000369393.3	-	85	14237	c.14122G>C	c.(14122-14124)Gaa>Caa	p.E4708Q	MDN1_ENST00000428876.1_Missense_Mutation_p.E4708Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4708					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTGTCTTTTTCTTGACCCTTC	0.353000													15	47					0	0	0.004007	0	0
TCHH	7062	broad.mit.edu	37	1	152080535	152080535	+	Missense_Mutation	SNP	C	C	G	rs71585886		TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr1:152080535C>G	ENST00000368804.1	-	2	5157	c.5158G>C	c.(5158-5160)Gaa>Caa	p.E1720Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1720	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTCCAGTTCCTGGCGGCGC	0.552000													32	69					0	0	0.010818	0	0
FLI1	2313	broad.mit.edu	37	11	128638117	128638117	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr11:128638117C>T	ENST00000527786.2	+	3	824	c.335C>T	c.(334-336)cCc>cTc	p.P112L	FLI1_ENST00000281428.8_Missense_Mutation_p.P46L|FLI1_ENST00000534087.2_Missense_Mutation_p.P79L|FLI1_ENST00000344954.6_Missense_Mutation_p.P79L|FLI1_ENST00000525560.1_Intron	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor		PNT.				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		AAGAATGGCCCCCCTCCTCCC	0.582000			T	EWSR1	Ewing sarcoma								7	11					0	0	0.003080	0	0
TRIAP1	51499	broad.mit.edu	37	12	120884103	120884103	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr12:120884103C>T	ENST00000546954.1	-	1	112	c.73G>A	c.(73-75)Gag>Aag	p.E25K	TRIAP1_ENST00000302432.3_5'UTR|AL021546.6_ENST00000551806.1_Intron	NM_016399.2	NP_057483.1	O43715	TRIA1_HUMAN	TP53 regulated inhibitor of apoptosis 1	25					anti-apoptosis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	mitochondrion|perinuclear region of cytoplasm	caspase inhibitor activity|protein binding					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGAAATTTCTCGGCGAACCAG	0.627000													26	40					0	0	0.003330	0	0
MIR99AHG	388815	broad.mit.edu	37	21	17443667	17443667	+	RNA	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr21:17443667C>T	ENST00000458468.1	+	0	261					NR_027790.1																						AGCAGCCAATCCGGCCATGCT	0.478000													18	13					0	0	0.004990	0	0
UNC13B	10497	broad.mit.edu	37	9	35310672	35310672	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr9:35310672G>C	ENST00000378495.3	+	9	1192	c.970G>C	c.(970-972)Gag>Cag	p.E324Q	UNC13B_ENST00000378496.4_Missense_Mutation_p.E324Q|UNC13B_ENST00000396787.1_Missense_Mutation_p.E336Q	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	324					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AGGTCAAGCAGAGAAGGAGGC	0.532000													26	27					0	0	0.004656	0	0
OR52D1	390066	broad.mit.edu	37	11	5510080	5510080	+	Silent	SNP	C	C	A	rs138095953	by1000genomes	TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr11:5510080C>A	ENST00000322641.5	+	1	166	c.144C>A	c.(142-144)ctC>ctA	p.L48L	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGCTGCCCTCATCCTGGTCA	0.522000													22	27					2.89027e-11	3.21699e-11	0.014323	1	0
RFC5	5985	broad.mit.edu	37	12	118463596	118463596	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr12:118463596C>G	ENST00000392542.2	+	8	1096	c.563C>G	c.(562-564)tCc>tGc	p.S188C	RFC5_ENST00000229043.3_Missense_Mutation_p.S124C|RFC5_ENST00000454402.2_Missense_Mutation_p.S209C	NM_181578.3	NP_853556.2	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	209					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCACTCTTTCCAGTGGAGAC	0.418000													19	88					0	0	0.014323	0	0
PRKAR1A	5573	broad.mit.edu	37	17	66526542	66526542	+	Silent	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr17:66526542C>G	ENST00000589228.1	+	11	1226	c.1098C>G	c.(1096-1098)ctC>ctG	p.L366L	PRKAR1A_ENST00000588188.2_Intron|PRKAR1A_ENST00000392711.1_Silent_p.L366L|PRKAR1A_ENST00000358598.2_Silent_p.L366L|PRKAR1A_ENST00000536854.2_Silent_p.L366L|PRKAR1A_ENST00000586397.1_Silent_p.L366L	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	366					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					CAGACATCCTCAAACGAAACA	0.517000			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				26	102					0	0	0.003954	0	0
HSPH1	10808	broad.mit.edu	37	13	31727035	31727035	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr13:31727035C>G	ENST00000320027.5	-	5	827	c.483G>C	c.(481-483)caG>caC	p.Q161H	HSPH1_ENST00000380406.5_Missense_Mutation_p.Q120H|HSPH1_ENST00000380405.4_Missense_Mutation_p.Q161H|HSPH1_ENST00000429785.2_Intron|HSPH1_ENST00000445273.2_Missense_Mutation_p.Q163H	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	161					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		GGCCAACAATCTGTGCAGCAT	0.363000													73	182					0	0	0.014410	0	0
NPR3	4883	broad.mit.edu	37	5	32712443	32712443	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr5:32712443G>T	ENST00000265074.8	+	1	904	c.561G>T	c.(559-561)atG>atT	p.M187I	NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415685.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.M187I	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	187					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TGGGCGAGATGATGCTCGCCC	0.667000													19	44					7.45023e-12	8.31653e-12	0.010504	1	0
NDE1	54820	broad.mit.edu	37	16	15785075	15785075	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr16:15785075G>A	ENST00000396355.1	+	7	1424	c.598G>A	c.(598-600)Gag>Aag	p.E200K	NDE1_ENST00000396353.2_Missense_Mutation_p.E200K|NDE1_ENST00000342673.5_Missense_Mutation_p.E200K|NDE1_ENST00000396354.1_Missense_Mutation_p.E200K	NM_001143979.1	NP_001137451.1	Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	200	Interaction with CENPF (By similarity).				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						AGTGGAAGCTGAGAGGACAGA	0.587000													13	33					0	0	0.001855	0	0
LDHAL6B	92483	broad.mit.edu	37	15	59499919	59499919	+	Silent	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr15:59499919G>A	ENST00000307144.4	+	1	878	c.780G>A	c.(778-780)ttG>ttA	p.L260L	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	260					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	GTGTCCCTTTGAAGGATCTGA	0.433000													15	33					0	0	0.002450	0	0
NKX2-1	7080	broad.mit.edu	37	14	36988528	36988528	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr14:36988528G>A	ENST00000518149.1	-	2	640	c.35C>T	c.(34-36)tCa>tTa	p.S12L	NKX2-1_ENST00000354822.5_Missense_Mutation_p.S42L|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000498187.2_Missense_Mutation_p.S12L|NKX2-1-AS1_ENST00000521292.2_RNA|NKX2-1_ENST00000522719.2_Missense_Mutation_p.S12L			P43699	NKX21_HUMAN	NK2 homeobox 1	12					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		GTCAGACACTGAGAACGGAGT	0.612000			A		NSCLC								7	2					0	0	0.003080	0	0
BMP10	27302	broad.mit.edu	37	2	69093615	69093615	+	Silent	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr2:69093615G>A	ENST00000295379.1	-	2	581	c.423C>T	c.(421-423)atC>atT	p.I141I		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	141					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			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						GTTCAGCCATGATGACCTCTT	0.443000													15	31					0	0	0.004007	0	0
NUDT7	283927	broad.mit.edu	37	16	77775671	77775671	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr16:77775671G>C	ENST00000268533.5	+	4	610	c.541G>C	c.(541-543)Gaa>Caa	p.E181Q	NUDT7_ENST00000564031.1_3'UTR|NUDT7_ENST00000563839.1_3'UTR|NUDT7_ENST00000437314.3_Missense_Mutation_p.E128Q|RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000564085.1_3'UTR	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	181			E -> G (in dbSNP:rs16946429).		nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						CACAAACCCTGAAGACGGTGT	0.448000													21	42					0	0	0.008871	0	0
APLP1	333	broad.mit.edu	37	19	36370101	36370101	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr19:36370101C>G	ENST00000221891.4	+	16	2031	c.1839C>G	c.(1837-1839)atC>atG	p.I613M	APLP1_ENST00000537454.2_Missense_Mutation_p.I573M|APLP1_ENST00000586861.1_Missense_Mutation_p.I606M	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	612					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACGGGGCTATCAGCCATGGCG	0.652000													17	41					0	0	0.004990	0	0
PET112	5188	broad.mit.edu	37	4	152625030	152625030	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr4:152625030C>G	ENST00000263985.6	-	8	1020	c.980G>C	c.(979-981)aGa>aCa	p.R327T	PET112_ENST00000512306.1_Missense_Mutation_p.R327T|PET112_ENST00000515812.1_Missense_Mutation_p.R286T	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN	PET112 homolog (yeast)	327						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTCTTTGTCTCTCATTGACAT	0.428000													29	49					0	0	0.003755	0	0
SNX19	399979	broad.mit.edu	37	11	130784943	130784943	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr11:130784943C>G	ENST00000265909.4	-	1	1461	c.892G>C	c.(892-894)Gag>Cag	p.E298Q	SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.E298Q|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000539184.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	298					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GGAAGCTGCTCTACCTCAGCA	0.577000													23	65					0	0	0.002780	0	0
KIZ-AS1	101929591	broad.mit.edu	37	20	21195243	21195243	+	RNA	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr20:21195243C>T	ENST00000591761.1	-	0	119				PLK1S1_ENST00000457464.1_RNA|RP4-777D9.2_ENST00000443753.1_RNA|RP4-777D9.2_ENST00000433213.2_RNA																							AGTAGTGAATCATCTTGCAGC	0.418000													4	20					0	0	0.009096	0	0
MPP6	51678	broad.mit.edu	37	7	24690309	24690309	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr7:24690309G>C	ENST00000222644.5	+	5	879	c.629G>C	c.(628-630)aGa>aCa	p.R210T	MPP6_ENST00000409761.1_Missense_Mutation_p.R98T|MPP6_ENST00000396475.2_Missense_Mutation_p.R210T			Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)						protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						CCAAGTTATAGAGATACCATT	0.308000													18	23					0	0	0.006122	0	0
ABCA7	10347	broad.mit.edu	37	19	1062220	1062220	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr19:1062220C>T	ENST00000263094.6	+	42	5851	c.5620C>T	c.(5620-5622)Caa>Taa	p.Q1874*	ABCA7_ENST00000435683.2_Nonsense_Mutation_p.Q1736*|ABCA7_ENST00000433129.1_Nonsense_Mutation_p.Q1874*	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1874	ABC transporter 2.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATACTGCCCTCAATCCGATGC	0.687000													56	151					0	0	0.014410	0	0
ACTR1A	10121	broad.mit.edu	37	10	104241854	104241854	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr10:104241854C>T	ENST00000369905.4	-	8	892	c.829G>A	c.(829-831)Gag>Aag	p.E277K	ACTR1A_ENST00000545684.1_Missense_Mutation_p.E203K|ACTR1A_ENST00000446605.2_Missense_Mutation_p.E230K|ACTR1A_ENST00000470322.1_5'UTR|ACTR1A_ENST00000487599.1_Missense_Mutation_p.E277K	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)	277					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		ACCAGGACCTCGTGGATGCCT	0.552000													36	107					0	0	0.007835	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140308510	140308510	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr5:140308510C>T	ENST00000253807.2	+	1	2033	c.2033C>T	c.(2032-2034)tCt>tTt	p.S678F	PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S678F|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCAGCTTTCTGCCCAGAAC	0.473000													40	61					0	0	0.008740	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1817296	1817296	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr16:1817296G>C	ENST00000250894.4	+	26	3389	c.3232G>C	c.(3232-3234)Gag>Cag	p.E1078Q	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.E1072Q	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1078					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CATGCAGATAGAGGCGAGTGC	0.642000													13	34					0	0	0.001855	0	0
USP20	10868	broad.mit.edu	37	9	132642525	132642525	+	Silent	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr9:132642525G>A	ENST00000315480.4	+	25	2876	c.2718G>A	c.(2716-2718)aaG>aaA	p.K906K	USP20_ENST00000358355.1_Silent_p.K906K|USP20_ENST00000472108.1_3'UTR|USP20_ENST00000372429.3_Silent_p.K906K			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	906					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GGGAGCAGAAGATCGAAGCCG	0.647000													8	6					0	0	0.003080	0	0
GRIP1	23426	broad.mit.edu	37	12	66788018	66788018	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr12:66788018G>C	ENST00000359742.4	-	17	2339	c.2099C>G	c.(2098-2100)tCa>tGa	p.S700*	GRIP1_ENST00000398016.3_Nonsense_Mutation_p.S648*|GRIP1_ENST00000286445.7_Nonsense_Mutation_p.S700*			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	700	PDZ 6.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		AGTGAGGCTTGAAATGATTAT	0.438000													48	82					0	0	0.014410	0	0
MUC17	140453	broad.mit.edu	37	7	100679285	100679285	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr7:100679285G>A	ENST00000306151.4	+	3	4652	c.4588G>A	c.(4588-4590)Gaa>Aaa	p.E1530K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1530	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCCAGTTCTGAAATCAACAG	0.483000													7	458					0	0	0.001984	0	0
NQO2	4835	broad.mit.edu	37	6	3010384	3010384	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr6:3010384A>G	ENST00000338130.2	+	6	845	c.133A>G	c.(133-135)Atg>Gtg	p.M45V	NQO2_ENST00000380455.4_Missense_Mutation_p.M45V|NQO2_ENST00000380454.4_Missense_Mutation_p.M45V|NQO2_ENST00000606474.1_3'UTR|NQO2_ENST00000380441.1_Missense_Mutation_p.M45V|NQO2_ENST00000380430.1_Missense_Mutation_p.M45V			P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2	45						cytoplasm|nucleus	coenzyme binding|dihydronicotinamide riboside quinone reductase activity|electron carrier activity|metal ion binding|NADPH dehydrogenase (quinone) activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Menadione(DB00170)|NADH(DB00157)	TTTGTATGCCATGAACCTTGA	0.428000													8	26					0	0	0.003080	0	0
FLNC	2318	broad.mit.edu	37	7	128491402	128491402	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr7:128491402G>A	ENST00000325888.8	+	34	5917	c.5656G>A	c.(5656-5658)Gat>Aat	p.D1886N	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.D1853N	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1886					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGTCACCAAAGATGCTGGAGA	0.602000													9	45					0	0	0.006214	0	0
MB21D2	151963	broad.mit.edu	37	3	192635536	192635536	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr3:192635536G>A	ENST00000392452.2	-	1	414	c.94C>T	c.(94-96)Cgg>Tgg	p.R32W		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	32										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TCCTCCACCCGAGCTCCCGAC	0.552000													18	41					0	0	0.006122	0	0
CATSPERD	257062	broad.mit.edu	37	19	5778417	5778417	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr19:5778417C>G	ENST00000381624.3	+	22	2188	c.2127C>G	c.(2125-2127)atC>atG	p.I709M	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	709						integral to membrane											TCTTTAGCATCTACGTGTATG	0.572000													13	49					0	0	0.001855	0	0
NDUFV1	4723	broad.mit.edu	37	11	67378666	67378666	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr11:67378666G>A	ENST00000322776.6	+	6	1054	c.901G>A	c.(901-903)Gag>Aag	p.E301K	NDUFV1_ENST00000526169.1_3'UTR|NDUFV1_ENST00000532303.1_Missense_Mutation_p.E200K|NDUFV1_ENST00000415352.2_Missense_Mutation_p.E294K|NDUFV1_ENST00000529927.1_Missense_Mutation_p.E292K	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	301					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	AGAACTGATTGAGAAGCATGC	0.587000													14	35					0	0	0.002450	0	0
CAMK1G	57172	broad.mit.edu	37	1	209782353	209782353	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr1:209782353G>A	ENST00000009105.1	+	8	909	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	CAMK1G_ENST00000494990.1_3'UTR|CAMK1G_ENST00000361322.2_Missense_Mutation_p.E222K			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	222	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		ATTCTATGAAGAAACGGAGTC	0.517000													24	60					0	0	0.003330	0	0
RHD	6007	broad.mit.edu	37	1	25599156	25599156	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr1:25599156G>A	ENST00000328664.4	+	1	273	c.118G>A	c.(118-120)Gat>Aat	p.D40N	RHD_ENST00000568195.1_Missense_Mutation_p.D40N|RHD_ENST00000342055.5_Missense_Mutation_p.D40N|RHD_ENST00000423810.2_Missense_Mutation_p.D40N|RHD_ENST00000357542.4_Missense_Mutation_p.D40N|RHD_ENST00000417538.2_Missense_Mutation_p.D40N|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000454452.2_Missense_Mutation_p.D40N	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	40						integral to plasma membrane				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TTCCTTAGAGGATCAAAAGGG	0.557000													29	73					0	0	0.009535	0	0
CLVS2	134829	broad.mit.edu	37	6	123332160	123332160	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr6:123332160C>G	ENST00000275162.5	+	3	1755	c.420C>G	c.(418-420)atC>atG	p.I140M	CLVS2_ENST00000368438.1_5'UTR	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2		CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TGCGTGCCATCTTACTTTCTT	0.378000													21	75					0	0	0.012319	0	0
TANC2	26115	broad.mit.edu	37	17	61278301	61278301	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr17:61278301G>C	ENST00000424789.2	+	5	534	c.530G>C	c.(529-531)aGa>aCa	p.R177T	TANC2_ENST00000389520.4_Missense_Mutation_p.R177T|AC037445.1_ENST00000581421.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	177							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CTTGAAAGCAGAGATAGTGGC	0.388000													19	63					0	0	0.007413	0	0
NSMAF	8439	broad.mit.edu	37	8	59548076	59548076	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr8:59548076G>A	ENST00000038176.3	-	3	391	c.179C>T	c.(178-180)tCa>tTa	p.S60L	NSMAF_ENST00000427130.2_Missense_Mutation_p.S91L	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	60					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CACCGATTTTGAACATATTTT	0.313000													6	108					0	0	0.001984	0	0
ZMYND11	10771	broad.mit.edu	37	10	292745	292745	+	Silent	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr10:292745C>G	ENST00000397962.3	+	11	1418	c.990C>G	c.(988-990)gtC>gtG	p.V330V	ZMYND11_ENST00000381591.1_Silent_p.V330V|ZMYND11_ENST00000381584.1_Silent_p.V313V|ZMYND11_ENST00000535374.1_Silent_p.V125V|ZMYND11_ENST00000381604.4_Silent_p.V290V|ZMYND11_ENST00000381607.4_Silent_p.V236V|ZMYND11_ENST00000509513.2_Silent_p.V329V|ZMYND11_ENST00000397959.3_Silent_p.V245V|ZMYND11_ENST00000402736.1_Silent_p.V299V|ZMYND11_ENST00000381602.4_Silent_p.V290V|ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000403354.1_Silent_p.V250V|ZMYND11_ENST00000602682.1_Silent_p.V245V|ZMYND11_ENST00000558098.2_Silent_p.V330V|ZMYND11_ENST00000545619.1_Silent_p.V210V|ZMYND11_ENST00000309776.4_Silent_p.V290V			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	290					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ATATCACAGTCAACATTCATC	0.453000													4	25					0	0	0.000602	0	0
ZFP69B	65243	broad.mit.edu	37	1	40928688	40928688	+	Silent	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr1:40928688C>T	ENST00000411995.2	+	6	1407	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Silent_p.F242F	NM_023070.2	NP_075558.2			ZFP69 zinc finger protein B																		GGAAAACCTTCAGACATCCTT	0.428000													14	28					0	0	0.002450	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68150714	68150714	+	Silent	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr8:68150714G>A	ENST00000262215.3	-	22	3542	c.3153C>T	c.(3151-3153)atC>atT	p.I1051I	ARFGEF1_ENST00000518230.1_5'UTR|ARFGEF1_ENST00000520381.1_Silent_p.I505I	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1051					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CCAACTGACTGATGCACTTCA	0.363000													18	33					0	0	0.006122	0	0
NRSN1	140767	broad.mit.edu	37	6	24134710	24134710	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr6:24134710G>C	ENST00000378491.4	+	3	456	c.155G>C	c.(154-156)aGa>aCa	p.R52T	NRSN1_ENST00000378478.1_Missense_Mutation_p.R52T|NRSN1_ENST00000378475.1_Missense_Mutation_p.R52T	NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	52					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						CAGATCCAAAGATCACCTAAC	0.453000													3	57					0	0	0.009096	0	0
UBTF	7343	broad.mit.edu	37	17	42294012	42294012	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr17:42294012G>C	ENST00000302904.4	-	3	611	c.119C>G	c.(118-120)tCc>tGc	p.S40C	UBTF_ENST00000436088.1_Missense_Mutation_p.S40C|UBTF_ENST00000529383.1_Missense_Mutation_p.S40C|UBTF_ENST00000393606.3_Missense_Mutation_p.S40C|UBTF_ENST00000343638.5_Missense_Mutation_p.S40C|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000526094.1_Missense_Mutation_p.S40C|UBTF_ENST00000533177.1_Missense_Mutation_p.S40C|UBTF_ENST00000527034.1_Missense_Mutation_p.S40C			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	40					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCTGTCATTGGATGGAAGGTT	0.468000													55	164					0	0	0.014410	0	0
MED24	9862	broad.mit.edu	37	17	38179630	38179630	+	Silent	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr17:38179630C>T	ENST00000394126.1	-	19	2497	c.2079G>A	c.(2077-2079)tcG>tcA	p.S693S	MED24_ENST00000356271.3_Silent_p.S655S|MED24_ENST00000394128.2_Silent_p.S668S|MED24_ENST00000501516.3_Silent_p.S687S|MED24_ENST00000394127.2_Silent_p.S655S			O75448	MED24_HUMAN	mediator complex subunit 24	668					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GCTCCAGGATCGAGTTCATGA	0.617000													5	53					0	0	0.001168	0	0
CCNG2	901	broad.mit.edu	37	4	78081929	78081929	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr4:78081929G>C	ENST00000316355.5	+	4	688	c.332G>C	c.(331-333)aGa>aCa	p.R111T	CCNG2_ENST00000502280.1_Missense_Mutation_p.R111T|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000395640.1_Missense_Mutation_p.R111T|CCNG2_ENST00000354403.5_Missense_Mutation_p.R111T|CCNG2_ENST00000509972.1_Missense_Mutation_p.R111T	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	111					cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CTGGCTGCTAGAATAGTTGAA	0.373000													34	110					0	0	0.013726	0	0
GABRD	2563	broad.mit.edu	37	1	1961619	1961619	+	Silent	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr1:1961619C>G	ENST00000378585.4	+	9	1340	c.1257C>G	c.(1255-1257)ctC>ctG	p.L419L		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	419						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GTGCCCGGCTCAGGCCCATCG	0.652000													23	66					0	0	0.014323	0	0
TEAD3	7005	broad.mit.edu	37	6	35454317	35454317	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr6:35454317C>G	ENST00000338863.7	-	2	350	c.123G>C	c.(121-123)caG>caC	p.Q41H	TEAD3_ENST00000402886.3_Missense_Mutation_p.R24T	NM_003214.3	NP_003205	Q99594	TEAD3_HUMAN	TEA domain family member 3	41					female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						CCTGGAAGCTCTGCTCGATGT	0.716000													14	34					0	0	0.002450	0	0
MYH9	4627	broad.mit.edu	37	22	36691013	36691013	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr22:36691013C>A	ENST00000216181.5	-	27	3825	c.3595G>T	c.(3595-3597)Gag>Tag	p.E1199*		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1199					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCCAGCTCCTCCACGGCCTGT	0.652000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				46	119					3.77016e-25	4.29597e-25	0.013114	1	0
CCDC88B	283234	broad.mit.edu	37	11	64112210	64112210	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr11:64112210G>C	ENST00000356786.5	+	14	2241	c.2197G>C	c.(2197-2199)Gag>Cag	p.E733Q	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	733					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTCAGGGAGGAGGTGGCACA	0.647000													8	18					0	0	0.010729	0	0
ANP32A	8125	broad.mit.edu	37	15	69080163	69080163	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr15:69080163G>C	ENST00000465139.2	-	2	293	c.150C>G	c.(148-150)atC>atG	p.I50M	ANP32A_ENST00000560303.1_Missense_Mutation_p.I50M|ANP32A_ENST00000483551.2_5'UTR	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	50					intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding			endometrium(1)|large_intestine(1)|lung(2)	4						GGCCTACGTTGATTGTACTTA	0.458000													42	99					0	0	0.007835	0	0
FANCD2	2177	broad.mit.edu	37	3	10089677	10089677	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr3:10089677C>T	ENST00000287647.3	+	16	1448	c.1355C>T	c.(1354-1356)tCa>tTa	p.S452L	FANCD2_ENST00000383806.1_Missense_Mutation_p.S452L|FANCD2_ENST00000383807.1_Missense_Mutation_p.S452L|FANCD2_ENST00000419585.1_Missense_Mutation_p.S452L	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	452					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AGTATAATTTCATTTGGCAGT	0.403000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				38	97					0	0	0.003755	0	0
MAP1B	4131	broad.mit.edu	37	5	71490800	71490800	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr5:71490800G>A	ENST00000296755.7	+	5	1916	c.1618G>A	c.(1618-1620)Gat>Aat	p.D540N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	540						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ACAGAGGGCTGATAGCCGAGA	0.498000													11	17					0	0	0.008291	0	0
ST3GAL6	10402	broad.mit.edu	37	3	98489773	98489773	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr3:98489773C>G	ENST00000394162.1	+	4	607	c.140C>G	c.(139-141)tCa>tGa	p.S47*	ST3GAL6_ENST00000462152.1_Intron|ST3GAL6_ENST00000483910.1_Nonsense_Mutation_p.S47*|ST3GAL6_ENST00000468553.1_Nonsense_Mutation_p.S47*|ST3GAL6_ENST00000265261.6_5'UTR	NM_001271145.1|NM_006100.3	NP_001258074.1|NP_006091.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	47					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						CCTTGTTTATCAAAGCCAGCT	0.408000													21	48					0	0	0.010504	0	0
MARS2	92935	broad.mit.edu	37	2	198570227	198570227	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr2:198570227C>T	ENST00000282276.6	+	1	141	c.98C>T	c.(97-99)tCc>tTc	p.S33F	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	33					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	AGTTCGGGCTCCCTCAGTGCC	0.622000													10	28					0	0	0.013537	0	0
CCDC88B	283234	broad.mit.edu	37	11	64112132	64112132	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr11:64112132G>C	ENST00000356786.5	+	14	2163	c.2119G>C	c.(2119-2121)Gag>Cag	p.E707Q	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	707					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGGGGCTCTTGAGGTCCAGGT	0.622000													7	13					0	0	0.003080	0	0
EYA4	2070	broad.mit.edu	37	6	133802638	133802638	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr6:133802638C>G	ENST00000367895.5	+	12	1472	c.1008C>G	c.(1006-1008)atC>atG	p.I336M	EYA4_ENST00000355286.6_Missense_Mutation_p.I313M|EYA4_ENST00000431403.2_Missense_Mutation_p.I336M|EYA4_ENST00000430974.2_Missense_Mutation_p.I288M|EYA4_ENST00000452339.2_Missense_Mutation_p.I282M|EYA4_ENST00000525849.1_Missense_Mutation_p.I313M|EYA4_ENST00000355167.3_Missense_Mutation_p.I336M|EYA4_ENST00000531901.1_Missense_Mutation_p.I342M	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	336					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CCACACCCATCAAAGATCTTG	0.458000													39	96					0	0	0.007835	0	0
DDRGK1	65992	broad.mit.edu	37	20	3183980	3183980	+	Silent	SNP	C	C	T	rs147853986		TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr20:3183980C>T	ENST00000354488.3	-	2	231	c.174G>A	c.(172-174)ccG>ccA	p.P58P	DDRGK1_ENST00000380201.2_Silent_p.P58P	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	58						endoplasmic reticulum	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						CTCCAGCTCTCGGCTCCTCAG	0.697000													3	13					0	0	0.004672	0	0
LINC00674	100499466	broad.mit.edu	37	17	66110653	66110653	+	RNA	SNP	G	G	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr17:66110653G>T	ENST00000435469.2	+	0	207																											CCTTGACTACGGAGGGGTTGC	0.393000													7	29					5.18039e-06	5.54114e-06	0.003080	1	0
KRT19	3880	broad.mit.edu	37	17	39681484	39681484	+	Silent	SNP	C	C	T	rs150617585		TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr17:39681484C>T	ENST00000361566.3	-	2	522	c.462G>A	c.(460-462)caG>caA	p.Q154Q		NM_002276.4	NP_002267.2			keratin 19											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				CATTGTCGATCTGCAGGACAA	0.567000													31	129					0	0	0.004289	0	0
PLXNA2	5362	broad.mit.edu	37	1	208390179	208390179	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr1:208390179G>C	ENST00000367033.3	-	2	1846	c.1089C>G	c.(1087-1089)atC>atG	p.I363M		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	363	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TCTGCAAGTTGATGGCCCGGA	0.607000													16	30					0	0	0.004007	0	0
AKAP6	9472	broad.mit.edu	37	14	33004931	33004931	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr14:33004931C>G	ENST00000280979.4	+	3	666	c.496C>G	c.(496-498)Ctg>Gtg	p.L166V	AKAP6_ENST00000557354.1_Missense_Mutation_p.L166V|AKAP6_ENST00000557272.1_Missense_Mutation_p.L166V	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	166					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			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)		GGAGCGCATTCTGCAAGGTCT	0.527000													19	31					0	0	0.007413	0	0
ZFP69B	65243	broad.mit.edu	37	1	40928940	40928940	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr1:40928940C>A	ENST00000411995.2	+	6	1659	c.1284C>A	c.(1282-1284)ttC>ttA	p.F428L	ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Missense_Mutation_p.F326L	NM_023070.2	NP_075558.2			ZFP69 zinc finger protein B																		GTAAAACCTTCAGCCATAGTA	0.378000													24	44					9.95505e-16	1.11776e-15	0.014323	1	0
SELO	83642	broad.mit.edu	37	22	50654297	50654297	+	Splice_Site	SNP	G	G	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr22:50654297G>T	ENST00000380903.2	+	6	1560		c.e6+1		SELO_ENST00000492092.1_Splice_Site	NM_031454.1	NP_113642.1	Q9BVL4	SELO_HUMAN															all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TGGATCCCCGGTGGGTACTCA	0.582000													10	36					0.000673444	0.000706564	0.008291	1	0
PLCB4	5332	broad.mit.edu	37	20	9319664	9319664	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr20:9319664G>A	ENST00000378501.2	+	4	364	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	PLCB4_ENST00000414679.2_Missense_Mutation_p.E117K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E117K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.E117K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E117K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E117K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	117					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CATGGTGGCTGAAAATCCAGA	0.393000													18	32					0	0	0.006122	0	0
SUPT16H	11198	broad.mit.edu	37	14	21838582	21838582	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr14:21838582C>G	ENST00000216297.2	-	4	734	c.396G>C	c.(394-396)aaG>aaC	p.K132N		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	132					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCCAATCTTCTTGCCATTCT	0.378000													43	53					0	0	0.007835	0	0
ZNF285	26974	broad.mit.edu	37	19	44891762	44891762	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr19:44891762C>T	ENST00000330997.4	-	4	709	c.645G>A	c.(643-645)atG>atA	p.M215I	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.M222I|ZNF285_ENST00000544719.2_Missense_Mutation_p.M215I	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CCGTTGATTTCATACCCAAGT	0.463000													30	85					0	0	0.007291	0	0
SVIL	6840	broad.mit.edu	37	10	29752497	29752497	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr10:29752497C>G	ENST00000375398.2	-	37	6650	c.6201G>C	c.(6199-6201)aaG>aaC	p.K2067N	SVIL_ENST00000535393.1_Missense_Mutation_p.K981N|SVIL_ENST00000375400.3_Missense_Mutation_p.K1641N|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000355867.4_Missense_Mutation_p.K2067N|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000455774.1_RNA			O95425	SVIL_HUMAN	supervillin	2067					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			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)				AACCAGTGATCTTGTTCTCGA	0.592000													11	21					0	0	0.008291	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26032042	26032042	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr6:26032042G>T	ENST00000244661.2	-	1	246	c.247C>A	c.(247-249)Ctt>Att	p.L83I		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	83					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TGGAAGCGAAGATCGGTCTTG	0.577000													29	56					1.2476e-16	1.40905e-16	0.006320	1	0
CCDC180	100499483	broad.mit.edu	37	9	100080814	100080814	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr9:100080814G>C	ENST00000375202.2	+	24	2513	c.1161G>C	c.(1159-1161)aaG>aaC	p.K387N	CCDC180_ENST00000357054.1_Missense_Mutation_p.K526N|CCDC180_ENST00000411667.2_Missense_Mutation_p.K384N|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.K387N|CCDC180_ENST00000395220.1_Intron					coiled-coil domain containing 180																		TCATGCTGAAGACCCAGAACG	0.587000													13	16					0	0	0.001855	0	0
MIR1179	100302235	broad.mit.edu	37	15	89151343	89151343	+	RNA	SNP	G	G	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr15:89151343G>T	ENST00000408703.1	+	0	6					NR_031590.1																						TTATTGGCTGGAAAGGAAGAA	0.373000													6	138					0.00198382	0.00207571	0.001984	1	0
UQCRFS1	7386	broad.mit.edu	37	19	29698512	29698512	+	Silent	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr19:29698512G>C	ENST00000304863.4	-	2	1190	c.768C>G	c.(766-768)ctC>ctG	p.L256L		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	256	Rieske.				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			CTTCAAGGTTGAGAGGAGCAG	0.463000													13	16					0	0	0.003163	0	0
NCOA1	8648	broad.mit.edu	37	2	24888754	24888754	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr2:24888754C>T	ENST00000405141.1	+	7	937	c.226C>T	c.(226-228)Cag>Tag	p.Q76*	NCOA1_ENST00000407230.1_Intron|NCOA1_ENST00000348332.3_Nonsense_Mutation_p.Q76*|NCOA1_ENST00000395856.3_Nonsense_Mutation_p.Q76*|NCOA1_ENST00000538539.1_Nonsense_Mutation_p.Q76*|NCOA1_ENST00000406961.1_Nonsense_Mutation_p.Q76*|NCOA1_ENST00000288599.5_Nonsense_Mutation_p.Q76*			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	76	Helix-loop-helix motif.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACAGTCGATCAGATACAGCT	0.338000			T	PAX3	alveolar rhadomyosarcoma								29	54					0	0	0.012213	0	0
PTPRB	5787	broad.mit.edu	37	12	70925883	70925883	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr12:70925883C>T	ENST00000334414.6	-	32	6480	c.6436G>A	c.(6436-6438)Gac>Aac	p.D2146N	RP11-588H23.3_ENST00000551438.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000547656.1_RNA|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000261266.5_Missense_Mutation_p.D1928N|PTPRB_ENST00000550857.1_Missense_Mutation_p.D1838N|PTPRB_ENST00000538708.1_Missense_Mutation_p.D1838N|PTPRB_ENST00000550358.1_Missense_Mutation_p.D2058N|PTPRB_ENST00000451516.2_Missense_Mutation_p.D1838N	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1928					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCCACAGAGTCTTTGGAGTCT	0.473000													12	26					0	0	0.002450	0	0
PPP1R8	5511	broad.mit.edu	37	1	28165337	28165337	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr1:28165337G>C	ENST00000311772.5	+	3	303	c.245G>C	c.(244-246)aGa>aCa	p.R82T	PPP1R8_ENST00000236412.7_5'UTR|PPP1R8_ENST00000373931.4_5'UTR	NM_014110.4	NP_054829.2	Q12972	PP1R8_HUMAN	protein phosphatase 1, regulatory subunit 8	82	FHA.|Interaction with CDC5L, SF3B1 and MELK.				mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding			breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		CATCTGAAGAGAGTTTTCCTG	0.413000													23	34					0	0	0.003330	0	0
EMILIN3	90187	broad.mit.edu	37	20	39991162	39991162	+	Silent	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr20:39991162C>T	ENST00000332312.3	-	4	1239	c.1047G>A	c.(1045-1047)cgG>cgA	p.R349R		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	349						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				GGTGCAGCCTCCGGCTGGCGG	0.672000													3	17					0	0	0.004672	0	0
DEFB129	140881	broad.mit.edu	37	20	210144	210144	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr20:210144G>C	ENST00000246105.4	+	2	315	c.284G>C	c.(283-285)aGa>aCa	p.R95T		NM_080831.3	NP_543021.1	Q9H1M3	DB129_HUMAN	defensin, beta 129	95					defense response to bacterium	extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			GTGATACAAAGAAAACATATT	0.368000													26	41					0	0	0.007291	0	0
SOS1	6654	broad.mit.edu	37	2	39283887	39283887	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr2:39283887C>G	ENST00000426016.1	-	5	552	c.466G>C	c.(466-468)Gaa>Caa	p.E156Q	SOS1_ENST00000428721.2_Missense_Mutation_p.E99Q|SOS1_ENST00000402219.2_Missense_Mutation_p.E156Q|SOS1_ENST00000395038.2_Missense_Mutation_p.E156Q			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	156					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TTTGTAATTTCATAATGCCGT	0.318000									Noonan syndrome				54	161					0	0	0.014410	0	0
ACOX3	8310	broad.mit.edu	37	4	8372712	8372712	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr4:8372712C>T	ENST00000356406.5	-	17	1983	c.1906G>A	c.(1906-1908)Gat>Aat	p.D636N	ACOX3_ENST00000503233.1_Missense_Mutation_p.D636N|ACOX3_ENST00000413009.2_Missense_Mutation_p.R613Q|ACOX3_ENST00000515797.1_5'UTR	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	636					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GCAACTGCATCGTCTTTCAGC	0.567000													12	25					0	0	0.013537	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296403	145296403	+	Silent	SNP	C	C	T	rs4996269	by1000genomes	TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr1:145296403C>T	ENST00000342960.5	+	3	360	c.325C>T	c.(325-327)Cta>Tta	p.L109L	NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	109										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCTGACCCAGCTAAGGGAGAA	0.517000													5	247					0	0	0.000602	0	0
CHAD	1101	broad.mit.edu	37	17	48542794	48542794	+	Silent	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr17:48542794C>T	ENST00000508540.1	-	3	1097	c.945G>A	c.(943-945)ctG>ctA	p.L315L	ACSF2_ENST00000504392.1_Intron|CHAD_ENST00000258969.4_Silent_p.L315L|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000502667.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	315	LRRCT.				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CCTTGGCTTCCAGCCACCTGG	0.622000													10	33					0	0	0.008291	0	0
NOTCH4	4855	broad.mit.edu	37	6	32181995	32181995	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr6:32181995C>G	ENST00000375023.3	-	13	2197	c.2059G>C	c.(2059-2061)Gag>Cag	p.E687Q	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	687	EGF-like 17.				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			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						GCCTCACACTCTGGCCCCGTC	0.592000													44	95					0	0	0.014410	0	0
CUBN	8029	broad.mit.edu	37	10	17171672	17171672	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr10:17171672C>G	ENST00000377833.4	-	1	158	c.93G>C	c.(91-93)caG>caC	p.Q31H	CUBN_ENST00000377823.1_Missense_Mutation_p.Q31H	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	31					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			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)	TTTTTTGTCTCTGCAGCTCAA	0.413000													23	68					0	0	0.003954	0	0
PCDH18	54510	broad.mit.edu	37	4	138451460	138451460	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr4:138451460C>T	ENST00000344876.4	-	1	2169	c.1783G>A	c.(1783-1785)Gaa>Aaa	p.E595K	PCDH18_ENST00000507846.1_Missense_Mutation_p.E375K|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.E595K|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	595	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AAGCCACTTTCAGCCCCTTTG	0.453000													77	171					0	0	0.014410	0	0
POLG	5428	broad.mit.edu	37	15	89866111	89866111	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr15:89866111C>T	ENST00000268124.5	-	14	2621	c.2288G>A	c.(2287-2289)gGa>gAa	p.G763E	POLG_ENST00000442287.2_Missense_Mutation_p.G763E	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	763					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			AAAGGGGCTTCCCACATTACA	0.597000								DNA polymerases (catalytic subunits)					35	76					0	0	0.004289	0	0
RIMS1	22999	broad.mit.edu	37	6	72892108	72892108	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr6:72892108G>A	ENST00000264839.7	+	6	934	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K	RIMS1_ENST00000348717.5_Missense_Mutation_p.E312K|RIMS1_ENST00000520567.1_Missense_Mutation_p.E312K|RIMS1_ENST00000517960.1_Missense_Mutation_p.E312K|RIMS1_ENST00000518273.1_Missense_Mutation_p.E312K|RIMS1_ENST00000491071.2_Missense_Mutation_p.E312K|RIMS1_ENST00000522291.1_Missense_Mutation_p.E312K|RIMS1_ENST00000521978.1_Missense_Mutation_p.E312K			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	312					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GGAGCGCAAAGAAAGGCGGGA	0.602000													10	31					0	0	0.006214	0	0
SVIL	6840	broad.mit.edu	37	10	29819560	29819560	+	Silent	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr10:29819560G>A	ENST00000375398.2	-	13	2531	c.2082C>T	c.(2080-2082)gtC>gtT	p.V694V	SVIL_ENST00000375400.3_Silent_p.V300V|SVIL_ENST00000355867.4_Silent_p.V694V			O95425	SVIL_HUMAN	supervillin	694					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			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)				TCTTGGCGGCGACGCTCAGCT	0.473000													5	130					0	0	0.001984	0	0
EIF3A	8661	broad.mit.edu	37	10	120824916	120824916	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr10:120824916C>T	ENST00000369144.3	-	7	1244	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N	EIF3A_ENST00000541549.1_Missense_Mutation_p.D339N	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	373	PCI.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CTAACCATATCATTAATAAGG	0.388000													18	59					0	0	0.006122	0	0
DNAH11	8701	broad.mit.edu	37	7	21721170	21721170	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr7:21721170C>G	ENST00000328843.6	+	31	5381	c.5350C>G	c.(5350-5352)Cag>Gag	p.Q1784E	DNAH11_ENST00000409508.3_Missense_Mutation_p.Q1779E			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1784	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTAGATTTCTCAGCTGAATAC	0.378000									Kartagener syndrome				4	15					0	0	0.009096	0	0
ZNF844	284391	broad.mit.edu	37	19	12187310	12187310	+	Silent	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr19:12187310C>T	ENST00000439326.3	+	4	1550	c.1375C>T	c.(1375-1377)Ctg>Ttg	p.L459L	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GCCTTCAGATCTGCCTCACAC	0.428000													22	71					0	0	0.014323	0	0
LATS2	26524	broad.mit.edu	37	13	21555655	21555655	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr13:21555655G>C	ENST00000382592.4	-	6	3020	c.2615C>G	c.(2614-2616)tCa>tGa	p.S872*	LATS2_ENST00000542899.1_Nonsense_Mutation_p.S872*	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	872	Protein kinase.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CCCCACCAGTGAATGTGCCAG	0.612000													3	27					0	0	0.009096	0	0
EXOC2	55770	broad.mit.edu	37	6	617745	617745	+	Silent	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr6:617745G>C	ENST00000230449.4	-	6	762	c.627C>G	c.(625-627)ctC>ctG	p.L209L	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	209					exocytosis|protein transport					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)		AGAATGTACTGAGACCGCCTT	0.537000													14	31					0	0	0.001855	0	0
CEP85L	387119	broad.mit.edu	37	6	118790255	118790255	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr6:118790255G>T	ENST00000368491.3	-	12	2855	c.2234C>A	c.(2233-2235)tCa>tAa	p.S745*	CEP85L_ENST00000368488.5_Nonsense_Mutation_p.S748*	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	745						centrosome											CAGTAATAATGAAAGATTAGG	0.383000													15	30					6.31663e-08	6.87134e-08	0.003163	1	0
SAA2	6289	broad.mit.edu	37	11	18267568	18267568	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr11:18267568G>C	ENST00000414546.2	-	3	163	c.119C>G	c.(118-120)tCt>tGt	p.S40C	SAA2_ENST00000256733.4_Missense_Mutation_p.S40C|SAA2_ENST00000528349.1_Missense_Mutation_p.S40C|SAA2_ENST00000529528.1_Missense_Mutation_p.S40C|SAA2_ENST00000530400.1_Missense_Mutation_p.S40C|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000526900.1_Missense_Mutation_p.S40C	NM_001127380.2	NP_001120852.1			serum amyloid A2											central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						TCTCATGTCAGAGTAGGCTCT	0.527000													8	26					0	0	0.001855	0	0
KDM2A	22992	broad.mit.edu	37	11	66975111	66975111	+	Silent	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr11:66975111C>G	ENST00000529006.2	+	6	884	c.438C>G	c.(436-438)ctC>ctG	p.L146L	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Silent_p.L146L	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TCATCAGCCTCGAGTTTAGCC	0.463000													6	14					0	0	0.001168	0	0
CHGB	1114	broad.mit.edu	37	20	5905672	5905672	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr20:5905672G>C	ENST00000378961.4	+	5	2215	c.2011G>C	c.(2011-2013)Gag>Cag	p.E671Q		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	671						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAAGATAGCTGAGAAATTCAG	0.448000													8	21					0	0	0.004482	0	0
DUSP27	92235	broad.mit.edu	37	1	167096804	167096804	+	Silent	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr1:167096804C>T	ENST00000361200.2	+	6	2602	c.2436C>T	c.(2434-2436)tgC>tgT	p.C812C	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Silent_p.C812C|DUSP27_ENST00000443333.1_Silent_p.C812C			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	812					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CGGAAAGTTGCAGAAGCAAAG	0.567000													21	42					0	0	0.008871	0	0
FER1L5	90342	broad.mit.edu	37	2	97369346	97369346	+	RNA	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr2:97369346G>C	ENST00000457909.1	+	0	5281							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						AACCCAACCAGTACCCCACAC	0.557000													8	29					0	0	0.003080	0	0
CENPH	64946	broad.mit.edu	37	5	68498364	68498364	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr5:68498364G>C	ENST00000283006.2	+	6	490	c.403G>C	c.(403-405)Gag>Cag	p.E135Q	CENPH_ENST00000515001.1_Missense_Mutation_p.E116Q	NM_022909.3	NP_075060.1	Q9H3R5	CENPH_HUMAN	centromere protein H	135					cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|kinetochore organization|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	kinetochore binding|protein binding			kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		ACACCTATTAGAGCTAAATAA	0.294000													20	25					0	0	0.008871	0	0
ZNF649	65251	broad.mit.edu	37	19	52393872	52393872	+	Silent	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr19:52393872C>T	ENST00000354957.3	-	5	1801	c.1517G>A	c.(1516-1518)tGa>tAa	p.*506*	ZNF649_ENST00000600738.1_Silent_p.*478*|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		aactgtttatcatgaatgcag	0.468000													24	57					0	0	0.014323	0	0
PNPLA8	50640	broad.mit.edu	37	7	108154679	108154679	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr7:108154679C>G	ENST00000426128.2	-	3	1240	c.1115G>C	c.(1114-1116)aGa>aCa	p.R372T	PNPLA8_ENST00000388728.5_Missense_Mutation_p.R372T|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000453144.1_Missense_Mutation_p.R272T|PNPLA8_ENST00000436062.1_Missense_Mutation_p.R372T|PNPLA8_ENST00000257694.8_Missense_Mutation_p.R372T|PNPLA8_ENST00000422087.1_Missense_Mutation_p.R372T	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	372					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						GTCAGTTGTTCTTCTTAATGC	0.373000													9	342					0	0	0.004482	0	0
MIA3	375056	broad.mit.edu	37	1	222801874	222801874	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr1:222801874G>A	ENST00000344922.5	+	4	1337	c.1312G>A	c.(1312-1314)Gac>Aac	p.D438N	MIA3_ENST00000344507.1_Missense_Mutation_p.D438N|MIA3_ENST00000344441.6_Missense_Mutation_p.D438N|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	438					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TAGTGACCCTGACAATGTAGA	0.388000													6	126					0	0	0.001984	0	0
FAN1	22909	broad.mit.edu	37	15	31210496	31210496	+	Silent	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr15:31210496G>A	ENST00000362065.4	+	6	2232	c.1941G>A	c.(1939-1941)ctG>ctA	p.L647L		NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	647					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						ACCCTTCTCTGAGGTGAGAGT	0.413000								Direct reversal of damage					29	56					0	0	0.005443	0	0
GYS2	2998	broad.mit.edu	37	12	21689962	21689962	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr12:21689962T>G	ENST00000261195.2	-	16	2292	c.2038A>C	c.(2038-2040)Aat>Cat	p.N680H		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	680					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GACTTGATATTTAACCGATCC	0.463000													22	59					0	0	0.012319	0	0
FGF11	2256	broad.mit.edu	37	17	7344850	7344850	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr17:7344850C>T	ENST00000293829.4	+	2	848	c.254C>T	c.(253-255)gCg>gTg	p.A85V	FGF11_ENST00000575082.1_5'UTR|RP11-104H15.10_ENST00000575331.1_RNA|FGF11_ENST00000575398.1_5'UTR|RP11-104H15.7_ENST00000575310.1_RNA|RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000572907.1_5'UTR|FGF11_ENST00000575235.1_5'UTR	NM_004112.2	NP_004103.1	Q92914	FGF11_HUMAN	fibroblast growth factor 11	85					cell-cell signaling|nervous system development|signal transduction		growth factor activity			central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1)	6		Prostate(122;0.157)				TACCTCCAGGCGAATCCCGAC	0.572000													11	18					0	0	0.010729	0	0
TNFRSF6B	8771	broad.mit.edu	37	20	62329778	62329778	+	Silent	SNP	G	G	A			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr20:62329778G>A	ENST00000369996.1	+	3	865	c.765G>A	c.(763-765)ctG>ctA	p.L255L	RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	255					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			CCTTGCAGCTGAAGCTGCGTC	0.746000													3	5					0	0	0.004672	0	0
FOXQ1	94234	broad.mit.edu	37	6	1313296	1313297	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr6:1313296_1313297insC	ENST00000296839.2	+	1	622_623	c.357_358insC	c.(358-360)cccfs	p.P120fs		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	120					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor 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|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		GGCGGCCCAAGCCCCCCTACTC	0.733													7	38	---	---	---	---					
CCT8	10694	broad.mit.edu	37	21	30442607	30442608	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-FD-A6TA-01A-12D-A339-08	TCGA-FD-A6TA-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	918997c8-256c-4084-a84e-e153eff11666	4194d054-f831-45e3-881f-4cd762bb72c5	g.chr21:30442607_30442608insCT	ENST00000286788.4	-	2	317_318	c.111_112insAG	c.(109-114)aaggagfs	p.E38fs	CCT8_ENST00000540844.1_5'UTR|CCT8_ENST00000542732.1_Frame_Shift_Ins_p.E19fs|CCT8_ENST00000470450.1_5'UTR	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	38					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						TGGGCAAGCTCCTTGCAAGCTT	0.356													13	51	---	---	---	---					
