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
BPIFB3	359710	broad.mit.edu	37	20	31651454	31651454	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr20:31651454G>A	ENST00000375494.3	+	6	625	c.625G>A	c.(625-627)Gtg>Atg	p.V209M		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	209	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	p.V209M(1)									GCTGGGTGTGGTGAATGAGCT	0.572000													54	170					0	0	0.003610	0	0
STAC	6769	broad.mit.edu	37	3	36527665	36527665	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr3:36527665G>T	ENST00000273183.3	+	5	911	c.611G>T	c.(610-612)cGc>cTc	p.R204L	STAC_ENST00000457375.2_Missense_Mutation_p.R143L|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	204					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	p.R204L(1)		endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GAGACCCTCCGCTTCGGCACC	0.562000													56	218					2.2129e-31	2.95942e-31	0.003610	1	0
SLC13A1	6561	broad.mit.edu	37	7	122768953	122768953	+	Missense_Mutation	SNP	A	A	C			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr7:122768953A>C	ENST00000194130.2	-	10	1118	c.1079T>G	c.(1078-1080)cTa>cGa	p.L360R	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	360						integral to membrane|plasma membrane	sodium:sulfate symporter activity	p.L360R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	ACTAAACCATAGCAGAGCCAT	0.418000													15	40					0	0	0.003163	0	0
HECTD3	79654	broad.mit.edu	37	1	45471493	45471493	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr1:45471493C>A	ENST00000372172.4	-	15	1979	c.1908G>T	c.(1906-1908)aaG>aaT	p.K636N	HECTD3_ENST00000372168.3_Missense_Mutation_p.K246N	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	636	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity	p.K246N(1)|p.K352N(1)|p.K636N(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					CTGGGAAGTCCTTGCTCCAGC	0.562000													35	59					1.04594e-18	1.30449e-18	0.006230	1	0
SHANK1	50944	broad.mit.edu	37	19	51165489	51165489	+	Silent	SNP	C	C	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr19:51165489C>T	ENST00000293441.1	-	23	6237	c.6219G>A	c.(6217-6219)tcG>tcA	p.S2073S	SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Silent_p.S2081S|SHANK1_ENST00000359082.3_Silent_p.S2064S|SHANK1_ENST00000391813.1_Silent_p.S1460S	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2073					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	p.S2073S(2)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGAGGGAGCGCGAGGCCCCTG	0.687000													6	34					0	0	0.004482	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68682465	68682465	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr11:68682465A>G	ENST00000255078.3	+	6	997	c.886A>G	c.(886-888)Atc>Gtc	p.I296V		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	296	Leu-rich.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	p.I296V(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGTTGCAGATATCAGGAAGGA	0.552000													19	36					0	0	0.002299	0	0
RPS7	6201	broad.mit.edu	37	2	3627799	3627799	+	Silent	SNP	G	G	C			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr2:3627799G>C	ENST00000407445.3	+	6	503	c.456G>C	c.(454-456)cgG>cgC	p.R152R	RPS7_ENST00000304921.5_Silent_p.R152R|RPS7_ENST00000403564.1_Silent_p.R152R|RPS7_ENST00000406376.1_Silent_p.R152R			P62081	RS7_HUMAN	ribosomal protein S7	152					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	protein binding|RNA binding|structural constituent of ribosome	p.R152R(1)		endometrium(1)|lung(2)|urinary_tract(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		ATGGCAGCCGGCTCATAAAGG	0.483000													25	51					0	0	0.006320	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							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)		TCTTAACTTACTGTTGTGAAA	0.418000													3	52					0	0	0.000248	0	0
KIF1B	23095	broad.mit.edu	37	1	10292474	10292474	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr1:10292474A>G	ENST00000377086.1	+	2	290	c.88A>G	c.(88-90)Atg>Gtg	p.M30V	KIF1B_ENST00000377081.1_Missense_Mutation_p.M30V|KIF1B_ENST00000377093.4_Missense_Mutation_p.M30V|KIF1B_ENST00000263934.6_Missense_Mutation_p.M30V|KIF1B_ENST00000377083.1_Missense_Mutation_p.M30V			O60333	KIF1B_HUMAN	kinesin family member 1B	30	Kinesin-motor.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	p.M30V(2)		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)		CATCATTCAGATGCAAGGCAA	0.468000													15	21					0	0	0.008871	0	0
GSE1	23199	broad.mit.edu	37	16	85704643	85704643	+	Missense_Mutation	SNP	G	G	A	rs2303203		TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr16:85704643G>A	ENST00000253458.7	+	15	3634	c.3458G>A	c.(3457-3459)cGa>cAa	p.R1153Q	GSE1_ENST00000393243.1_Missense_Mutation_p.R1080Q|GSE1_ENST00000405402.2_Missense_Mutation_p.R1049Q	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein									p.R1153Q(1)									CAATGTAGACGACTGGAGGCC	0.562000													23	36					0	0	0.003954	0	0
PSG1	5669	broad.mit.edu	37	19	43382252	43382252	+	Silent	SNP	T	T	C			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr19:43382252T>C	ENST00000244296.2	-	2	380	c.243A>G	c.(241-243)tcA>tcG	p.S81S	PSG1_ENST00000436291.2_Silent_p.S81S|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000595356.1_Silent_p.S81S|PSG1_ENST00000595124.1_Silent_p.S81S|PSG1_ENST00000403380.3_Silent_p.S81S|PSG1_ENST00000312439.6_Silent_p.S81S	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1									p.S81S(2)		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)				CTACTACATATGATGTAATGT	0.443000													221	337					0	0	0.003610	0	0
GH2	2689	broad.mit.edu	37	17	61958402	61958402	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr17:61958402G>A	ENST00000332800.7	-	3	411	c.278C>T	c.(277-279)aCg>aTg	p.T93M	GH2_ENST00000423893.2_Missense_Mutation_p.T93M|GH2_ENST00000456543.2_Missense_Mutation_p.T93M|GH2_ENST00000449787.2_Missense_Mutation_p.T78M	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	93						extracellular region	hormone activity	p.T93M(6)		breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TTTCTGCTGCGTTTTCACCCT	0.572000													156	273					0	0	0.003610	0	0
PRRC2A	7916	broad.mit.edu	37	6	31599748	31599748	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr6:31599748C>T	ENST00000376033.2	+	16	3532	c.3298C>T	c.(3298-3300)Cgg>Tgg	p.R1100W	PRRC2A_ENST00000376007.4_Missense_Mutation_p.R1100W	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1100	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding	p.R1100W(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AATCCCCAAGCGGCGCCGGCA	0.637000													7	53					0	0	0.004482	0	0
FAF1	11124	broad.mit.edu	37	1	50941262	50941262	+	Silent	SNP	G	G	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr1:50941262G>A	ENST00000396153.2	-	18	2194	c.1743C>T	c.(1741-1743)ccC>ccT	p.P581P	FAF1_ENST00000371778.4_Silent_p.P581P|FAF1_ENST00000545823.1_Silent_p.P339P	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	581	UBX.				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.P581P(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		ACTCGCCACTGGGGGTCCGGA	0.542000													29	36					0	0	0.007291	0	0
ZNF614	80110	broad.mit.edu	37	19	52519939	52519939	+	Silent	SNP	A	A	C			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr19:52519939A>C	ENST00000270649.6	-	5	1456	c.912T>G	c.(910-912)gcT>gcG	p.A304A	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A304A(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TTCGCTGATGAGCAATTAGAT	0.403000													19	170					0	0	0.006122	0	0
FAM135B	51059	broad.mit.edu	37	8	139151255	139151255	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr8:139151255A>G	ENST00000395297.1	-	18	4045	c.3875T>C	c.(3874-3876)tTc>tCc	p.F1292S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1292								p.F1292S(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTGGTAGAGGAAACATTTGCG	0.448000										HNSCC(54;0.14)			41	86					0	0	0.002522	0	0
NSRP1	84081	broad.mit.edu	37	17	28511752	28511752	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr17:28511752C>T	ENST00000247026.5	+	7	800	c.737C>T	c.(736-738)gCa>gTa	p.A246V	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	246					developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding	p.A246V(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						AACCCAGATGCAGACAGTGAC	0.413000													34	59					0	0	0.003755	0	0
DCHS1	8642	broad.mit.edu	37	11	6647528	6647528	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr11:6647528C>T	ENST00000299441.3	-	16	6859	c.6448G>A	c.(6448-6450)Gga>Aga	p.G2150R		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2150	Cadherin 20.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G2150R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAAAGGCTCCTCCACTCTCT	0.592000													4	20					0	0	0.000602	0	0
SMG7	9887	broad.mit.edu	37	1	183486889	183486889	+	Silent	SNP	G	G	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr1:183486889G>A	ENST00000367537.3	+	5	528	c.333G>A	c.(331-333)ccG>ccA	p.P111P	SMG7_ENST00000456731.2_Silent_p.P40P|SMG7_ENST00000508461.1_Silent_p.P40P|SMG7_ENST00000347615.2_Silent_p.P82P|SMG7_ENST00000515829.2_Silent_p.P82P|SMG7_ENST00000507469.1_Silent_p.P82P			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	82					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	p.P82P(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GAGCAAATCCGAATCGGAGTG	0.418000													28	228					0	0	0.001786	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111519749	111519749	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr5:111519749T>A	ENST00000261486.5	-	18	1862	c.1586A>T	c.(1585-1587)gAc>gTc	p.D529V	EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	529						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	p.D529V(1)|p.D156V(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		GTTGTTGGGGTCGGCTTGGTT	0.428000													40	82					0	0	0.002852	0	0
DVL3	1857	broad.mit.edu	37	3	183884764	183884764	+	Splice_Site	SNP	G	G	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr3:183884764G>T	ENST00000313143.3	+	11	1446		c.e11+1		DVL3_ENST00000431765.1_Splice_Site|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3						canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GACACAGAGCGTGAGTGTCCC	0.622000													29	135					8.58068e-18	1.05828e-17	0.007291	1	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													3	27					0	0	0.004672	0	0
MECOM	2122	broad.mit.edu	37	3	168833635	168833635	+	Silent	SNP	T	T	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr3:168833635T>A	ENST00000464456.1	-	7	2661	c.1461A>T	c.(1459-1461)tcA>tcT	p.S487S	MECOM_ENST00000472280.1_Silent_p.S488S|MECOM_ENST00000468789.1_Silent_p.S487S|MECOM_ENST00000460814.1_Silent_p.S487S|MECOM_ENST00000433243.2_Silent_p.S488S|MECOM_ENST00000392736.3_Silent_p.S487S|MECOM_ENST00000264674.3_Silent_p.S552S|MECOM_ENST00000494292.1_Silent_p.S675S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity	p.S487S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CCAGTCCTGTTGAACCAAAGT	0.433000													29	101					0	0	0.002096	0	0
PEG3	5178	broad.mit.edu	37	19	57327010	57327010	+	Nonsense_Mutation	SNP	T	T	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr19:57327010T>A	ENST00000326441.9	-	10	3163	c.2800A>T	c.(2800-2802)Aag>Tag	p.K934*	PEG3_ENST00000593695.1_Nonsense_Mutation_p.K808*|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Nonsense_Mutation_p.K934*|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Nonsense_Mutation_p.K810*|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	934					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K934*(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCACGAGCCTTCTGGTATTCA	0.463000													66	133					0	0	0.003610	0	0
ITPKA	3706	broad.mit.edu	37	15	41793911	41793911	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr15:41793911T>G	ENST00000260386.5	+	3	718	c.665T>G	c.(664-666)cTg>cGg	p.L222R		NM_002220.2	NP_002211.1	P23677	IP3KA_HUMAN	inositol-trisphosphate 3-kinase A	222					signal transduction		ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	p.L222R(1)		kidney(1)|lung(3)|skin(1)	5		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CTGGCGCGGCTGATGGCTGAC	0.692000													3	16					0	0	0.004672	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790096	133790096	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr11:133790096G>C	ENST00000321016.8	-	18	3754	c.3524C>G	c.(3523-3525)cCc>cGc	p.P1175R	IGSF9B_ENST00000533871.2_Missense_Mutation_p.P1175R			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1175	Pro-rich.					integral to membrane|plasma membrane		p.P631R(1)|p.P1175R(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCGGGGCCGGGGCTGGGGCTC	0.701000													12	59					0	0	0.003163	0	0
FCGR3B	2215	broad.mit.edu	37	1	161599819	161599819	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr1:161599819A>G	ENST00000294800.3	-	3	341	c.68T>C	c.(67-69)cTc>cCc	p.L23P	FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Missense_Mutation_p.L23P|FCGR2B_ENST00000367960.5_Intron|FCGR3A_ENST00000540048.1_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.L59P|FCGR2B_ENST00000403078.3_Intron	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	23					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity	p.L23P(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGCCTTTGGGAGATCTTCTGA	0.547000													26	38					0	0	0.001786	0	0
TTN	7273	broad.mit.edu	37	2	179640620	179640620	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr2:179640620G>T	ENST00000589042.1	-	28	6195	c.5971C>A	c.(5971-5973)Cct>Act	p.P1991T	TTN_ENST00000342175.6_Missense_Mutation_p.P1945T|TTN_ENST00000360870.5_Missense_Mutation_p.P1991T|TTN_ENST00000359218.5_Missense_Mutation_p.P1945T|TTN_ENST00000342992.6_Missense_Mutation_p.P1991T|TTN_ENST00000460472.2_Missense_Mutation_p.P1945T|TTN_ENST00000591111.1_Missense_Mutation_p.P1991T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1744							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P1945T(3)|p.P1991T(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACTCTTCAGGCACTTTTTCA	0.438000													26	269					1.42536e-11	1.73862e-11	0.004656	1	0
NAV1	89796	broad.mit.edu	37	1	201777624	201777624	+	Silent	SNP	G	G	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr1:201777624G>T	ENST00000367296.4	+	19	4344	c.3924G>T	c.(3922-3924)tcG>tcT	p.S1308S	NAV1_ENST00000367295.1_Silent_p.S914S|NAV1_ENST00000295624.6_Silent_p.S1305S|NAV1_ENST00000367302.1_Silent_p.S1261S|NAV1_ENST00000367300.3_Silent_p.S1248S|NAV1_ENST00000367297.4_Silent_p.S1300S|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1308					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	p.S1305S(1)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AGGAGGTATCGGAGCTGCGCT	0.562000													36	75					9.8876e-21	1.27619e-20	0.004878	1	0
MUC16	94025	broad.mit.edu	37	19	9073701	9073701	+	Nonsense_Mutation	SNP	G	G	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr19:9073701G>T	ENST00000397910.4	-	3	13948	c.13745C>A	c.(13744-13746)tCa>tAa	p.S4582*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4584	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S4582L(2)|p.S4582*(2)|p.S215*(1)|p.S215L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACCAGGTATTGATATAGAAGC	0.517000													17	62					7.41877e-09	8.66825e-09	0.001882	1	0
NEIL1	79661	broad.mit.edu	37	15	75646183	75646183	+	Silent	SNP	G	G	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr15:75646183G>A	ENST00000564784.1	+	7	1451	c.822G>A	c.(820-822)cgG>cgA	p.R274R	NEIL1_ENST00000569035.1_Silent_p.R274R|NEIL1_ENST00000355059.4_Silent_p.R274R			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	274					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding	p.R274R(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						TGCAGGACCGGCATGGCCGTA	0.617000								Base excision repair (BER), DNA glycosylases					4	129					0	0	0.000602	0	0
STK31	56164	broad.mit.edu	37	7	23751905	23751905	+	Splice_Site	SNP	G	G	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr7:23751905G>T	ENST00000354639.3	+	3	545	c.81_splice	c.e3+1	p.Q27_splice	STK31_ENST00000428484.1_Splice_Site_p.Q27_splice|STK31_ENST00000433467.2_Splice_Site_p.Q50_splice|STK31_ENST00000355870.3_Splice_Site_p.Q50_splice	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	50							ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.Q50H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTTGGGCCCAGGTAAATAGCA	0.373000													42	84					1.23713e-20	1.57841e-20	0.003610	1	0
ADCY8	114	broad.mit.edu	37	8	132051638	132051638	+	Silent	SNP	C	C	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr8:132051638C>T	ENST00000286355.5	-	1	3034	c.942G>A	c.(940-942)gcG>gcA	p.A314A	ADCY8_ENST00000377928.3_Silent_p.A314A	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	314					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.A314A(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGGAAATGACCGCCAGCCGGG	0.587000										HNSCC(32;0.087)			30	86					0	0	0.002836	0	0
KLK15	55554	broad.mit.edu	37	19	51330321	51330321	+	Silent	SNP	G	G	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr19:51330321G>A	ENST00000326856.4	-	4	420	c.291C>T	c.(289-291)taC>taT	p.Y97Y	KLK15_ENST00000598239.1_Silent_p.Y98Y|KLK15_ENST00000596931.1_Silent_p.Y97Y|KLK15_ENST00000416184.1_Silent_p.Y98Y|KLK15_ENST00000301421.2_Silent_p.Y98Y	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	98	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.Y98Y(2)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TGCGCGCTTCGTAGCGCGGGT	0.662000													42	63					0	0	0.003610	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43473891	43473891	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr17:43473891C>A	ENST00000532038.1	-	12	1604	c.1469G>T	c.(1468-1470)cGc>cTc	p.R490L	ARHGAP27_ENST00000442348.1_Missense_Mutation_p.R685L|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.R344L|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.R371L|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.R371L|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.R712L|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.R690L			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	712					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding	p.R371L(1)		endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CTGCACGAAGCGTGGCACCCG	0.731000													7	11					0.000157383	0.00017646	0.003080	1	0
NR1H3	10062	broad.mit.edu	37	11	47283259	47283259	+	Silent	SNP	G	G	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr11:47283259G>A	ENST00000467728.1	+	5	2108	c.870G>A	c.(868-870)ctG>ctA	p.L290L	NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000481889.2_Silent_p.L245L|NR1H3_ENST00000527949.1_Intron|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000395397.3_Silent_p.L245L|NR1H3_ENST00000441012.2_Silent_p.L290L|NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000405853.3_Intron			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	290	Ligand-binding (Potential).				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	p.L290L(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TTGCCCTGCTGAAGACCTCTG	0.582000													29	39					0	0	0.008361	0	0
HIPK3	10114	broad.mit.edu	37	11	33373334	33373334	+	Silent	SNP	G	G	C			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr11:33373334G>C	ENST00000303296.4	+	15	3293	c.2988G>C	c.(2986-2988)gtG>gtC	p.V996V	HIPK3_ENST00000525975.1_Silent_p.V975V|HIPK3_ENST00000379016.3_Silent_p.V975V|HIPK3_ENST00000456517.1_Silent_p.V975V	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	996	Required for localization to nuclear speckles (By similarity).				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.V996V(1)		endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CTGTTGTGGTGCCACCAGTGG	0.453000													21	29					0	0	0.002780	0	0
KRTAP19-1	337882	broad.mit.edu	37	21	31852612	31852612	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr21:31852612C>T	ENST00000390689.2	-	1	51	c.25G>A	c.(25-27)Gga>Aga	p.G9R		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	9	26 X 2 AA repeats of G-[YCGS].					intermediate filament		p.G9R(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CCCAGGCCTCCGTAGTAGCTG	0.557000													6	52					0	0	0.003163	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296626	39296626	+	Silent	SNP	G	G	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr17:39296626G>A	ENST00000345847.4	-	1	113	c.114C>T	c.(112-114)ccC>ccT	p.P38P		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	38	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						CACAGCAGCTGGGGCGGCAGC	0.667000													4	67					0	0	0.000248	0	0
FAM179B	23116	broad.mit.edu	37	14	45431925	45431925	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr14:45431925C>G	ENST00000361462.2	+	1	484	c.301C>G	c.(301-303)Caa>Gaa	p.Q101E	FAM179B_ENST00000361577.3_Missense_Mutation_p.Q101E|FAM179B_ENST00000382233.2_Missense_Mutation_p.Q101E			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	101							binding	p.Q101E(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TCGGCTCCTTCAACTCCTCCG	0.642000													50	76					0	0	0.003610	0	0
CGREF1	10669	broad.mit.edu	37	2	27324165	27324165	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr2:27324165G>T	ENST00000402394.1	-	6	1202	c.934C>A	c.(934-936)Caa>Aaa	p.Q312K	CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000405600.1_Missense_Mutation_p.Q312K|CGREF1_ENST00000404694.3_Missense_Mutation_p.Q434K|CGREF1_ENST00000260595.5_Missense_Mutation_p.Q295K|CGREF1_ENST00000312734.4_Missense_Mutation_p.Q312K|CGREF1_ENST00000452318.2_Intron	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	295					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding	p.Q295K(1)		kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTCCACTTGAACAATGTGC	0.502000													117	221					1.89039e-43	2.59054e-43	0.003610	1	0
ITGB2	3689	broad.mit.edu	37	21	46313397	46313397	+	Silent	SNP	G	G	A	rs61737080		TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr21:46313397G>A	ENST00000397850.2	-	11	1598	c.1146C>T	c.(1144-1146)taC>taT	p.Y382Y	ITGB2_ENST00000355153.4_Silent_p.Y382Y|ITGB2_ENST00000397857.1_Silent_p.Y382Y|ITGB2_ENST00000302347.5_Silent_p.Y382Y|ITGB2_ENST00000397852.1_Silent_p.Y382Y|ITGB2_ENST00000397854.3_Silent_p.Y325Y			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	382					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	p.Y382Y(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	AGAAGGAGTCGTAGGTGACTT	0.597000											OREG0026255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	177					0	0	0.006999	0	0
EPHX3	79852	broad.mit.edu	37	19	15338342	15338342	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr19:15338342T>C	ENST00000221730.3	-	7	1209	c.989A>G	c.(988-990)cAc>cGc	p.H330R	EPHX3_ENST00000435261.1_Missense_Mutation_p.H330R|EPHX3_ENST00000602233.1_Missense_Mutation_p.H330R	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	330						extracellular region	hydrolase activity	p.H330R(1)		endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						TGGCAGGATGTGGGCCTCCAA	0.612000													31	41					0	0	0.003755	0	0
SKOR1	390598	broad.mit.edu	37	15	68125572	68125572	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr15:68125572A>G	ENST00000380035.2	+	8	2838	c.2780A>G	c.(2779-2781)tAt>tGt	p.Y927C	SKOR1_ENST00000389002.1_Missense_Mutation_p.Y883C|SKOR1_ENST00000554240.1_Missense_Mutation_p.Y888C|SKOR1_ENST00000554054.1_Missense_Mutation_p.Y899C|SKOR1_ENST00000341418.5_Missense_Mutation_p.Y830C|RP11-34F13.3_ENST00000558889.1_RNA			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	927					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity	p.Y883C(1)|p.Y927C(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						AAGGCGCGCTATGCCATCCAG	0.587000													13	19					0	0	0.004007	0	0
WDR64	128025	broad.mit.edu	37	1	241929587	241929587	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr1:241929587T>C	ENST00000366552.2	+	15	2192	c.1985T>C	c.(1984-1986)aTa>aCa	p.I662T	WDR64_ENST00000437684.2_Missense_Mutation_p.I662T	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	662								p.I662T(1)|p.I382T(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TATAATTTGATAGCAGCTGGA	0.338000													35	93					0	0	0.004289	0	0
ARID2	196528	broad.mit.edu	37	12	46231201	46231201	+	Splice_Site	SNP	G	G	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr12:46231201G>A	ENST00000334344.6	+	9	1292		c.e9+1		ARID2_ENST00000422737.1_Splice_Site|ARID2_ENST00000479608.1_Splice_Site|ARID2_ENST00000444670.1_Splice_Site	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.?(1)		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)		AAGATGAGAGGTGAGTTTTCA	0.308000			"""N, S, F"""		hepatocellular carcinoma								22	32					0	0	0.002299	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102293020	102293020	+	RNA	SNP	G	G	C			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr15:102293020G>C	ENST00000561463.1	+	0	1066																											GAAGACACTCGTGGAGGCGTC	0.597000													2	6					0	0	0.001984	0	0
FSTL5	56884	broad.mit.edu	37	4	162577480	162577480	+	Splice_Site	SNP	A	A	G			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr4:162577480A>G	ENST00000306100.5	-	7	1330	c.894_splice	c.e7+1	p.N298_splice	FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000427802.2_Splice_Site_p.N297_splice|FSTL5_ENST00000536695.1_Splice_Site_p.N297_splice|FSTL5_ENST00000379164.4_Splice_Site_p.N297_splice	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	298	Ig-like 1.					extracellular region	calcium ion binding	p.N298N(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ATGTACTCACATTGATGTCTT	0.348000													6	8					0	0	0.001168	0	0
NDP	4693	broad.mit.edu	37	X	43817761	43817761	+	Missense_Mutation	SNP	T	T	C	rs104894870		TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chrX:43817761T>C	ENST00000378062.5	-	2	538	c.131A>G	c.(130-132)tAt>tGt	p.Y44C	NDP-AS1_ENST00000435093.1_RNA|NDP_ENST00000470584.1_Intron	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN	Norrie disease (pseudoglioma)	44	CTCK.		Y -> C (in ND).		canonical Wnt receptor signaling pathway|cell proliferation|cell-cell signaling|nervous system development|positive regulation of transcription, DNA-dependent|sensory perception of sound|vacuole organization|visual perception	extracellular matrix|extracellular space	cell surface binding|frizzled binding|growth factor activity|protein homodimerization activity	p.Y44C(1)		kidney(1)|lung(2)	3						AGAATCCACATAGTGGTGCCT	0.483000													7	88					0	0	0.004482	0	0
MIR124-2HG	100130155	broad.mit.edu	37	8	65291745	65291745	+	RNA	SNP	C	C	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr8:65291745C>T	ENST00000521441.1	+	0	655				MIR124-2_ENST00000385081.1_RNA																							TCACAGCGGACCTTGATTTAA	0.522000													3	34					0	0	0.000248	0	0
AIPL1	23746	broad.mit.edu	37	17	6328905	6328905	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr17:6328905C>T	ENST00000381129.3	-	6	1110	c.1030G>A	c.(1030-1032)Gca>Aca	p.A344T	AIPL1_ENST00000576776.1_Missense_Mutation_p.A320T|AIPL1_ENST00000576307.1_Missense_Mutation_p.A284T|AIPL1_ENST00000575265.1_3'UTR|AIPL1_ENST00000574506.1_Missense_Mutation_p.A332T|AIPL1_ENST00000570466.1_Missense_Mutation_p.A322T|AIPL1_ENST00000250087.5_Missense_Mutation_p.A281T	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	344					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding	p.A344T(1)		NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		gatgactgtgcgggtggctct	0.692000													56	102					0	0	0.003610	0	0
NFATC4	4776	broad.mit.edu	37	14	24839714	24839714	+	Silent	SNP	G	G	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr14:24839714G>A	ENST00000413692.2	+	3	1443	c.1299G>A	c.(1297-1299)aaG>aaA	p.K433K	NFATC4_ENST00000554344.1_Silent_p.K300K|NFATC4_ENST00000556169.1_Silent_p.K358K|NFATC4_ENST00000555590.1_Silent_p.K383K|NFATC4_ENST00000555453.1_Silent_p.K358K|NFATC4_ENST00000553879.1_Silent_p.K300K|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000250373.4_Silent_p.K370K|NFATC4_ENST00000554966.1_Silent_p.K383K|NFATC4_ENST00000539237.2_Silent_p.K402K|NFATC4_ENST00000424781.2_Silent_p.K383K|NFATC4_ENST00000554591.1_Silent_p.K433K|NFATC4_ENST00000554661.1_Silent_p.K300K|NFATC4_ENST00000422617.3_Silent_p.K358K|NFATC4_ENST00000553469.1_Silent_p.K402K|NFATC4_ENST00000557451.1_Silent_p.K300K|NFATC4_ENST00000554050.1_Silent_p.K370K|NFATC4_ENST00000556279.1_Silent_p.K402K|NFATC4_ENST00000553708.1_Silent_p.K370K	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	370	RHD.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.K370K(1)|p.K433K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GTTCCCGGAAGGAGGTGGCTG	0.642000													10	61					0	0	0.000978	0	0
INTS5	80789	broad.mit.edu	37	11	62416429	62416429	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr11:62416429G>A	ENST00000330574.2	-	2	1175	c.1123C>T	c.(1123-1125)Cac>Tac	p.H375Y		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	375					snRNA processing	integral to membrane|integrator complex	protein binding	p.H375Y(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CCTTGAAGGTGTTGCTGCAGC	0.602000													15	56					0	0	0.003163	0	0
CRELD2	79174	broad.mit.edu	37	22	50316928	50316928	+	Silent	SNP	G	G	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr22:50316928G>A	ENST00000404488.3	+	8	1017	c.882G>A	c.(880-882)caG>caA	p.Q294Q	CRELD2_ENST00000328268.4_Silent_p.Q245Q|CRELD2_ENST00000407217.3_Silent_p.Q245Q|CRELD2_ENST00000444954.1_3'UTR|CRELD2_ENST00000403427.3_Intron	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	245	EGF-like 2; calcium-binding (Potential).					endoplasmic reticulum|extracellular region	calcium ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		GCGCTGCGCAGTTCTGTAAGA	0.682000													7	30					0	0	0.000978	0	0
TTI2	80185	broad.mit.edu	37	8	33361019	33361019	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr8:33361019T>C	ENST00000431156.2	-	6	1805	c.1187A>G	c.(1186-1188)gAt>gGt	p.D396G	TTI2_ENST00000520636.1_Missense_Mutation_p.D365G|TTI2_ENST00000519356.1_5'UTR|TTI2_ENST00000360742.5_Missense_Mutation_p.D396G	NM_001102401.2	NP_001095871.1	Q6NXR4	CH041_HUMAN	TELO2 interacting protein 2	396							binding	p.D396G(1)									CTCAGGTCCATCATAAACCTC	0.443000													3	192					0	0	0.004672	0	0
TPR	7175	broad.mit.edu	37	1	186329117	186329117	+	Silent	SNP	A	A	C			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr1:186329117A>C	ENST00000367478.3	-	12	1499	c.1203T>G	c.(1201-1203)gcT>gcG	p.A401A	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	401					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	p.A401A(1)|p.A402A(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTTCCACATAAGCATTATAGA	0.328000			T	NTRK1	papillary thyroid								26	46					0	0	0.005443	0	0
IGKV1-5	28299	broad.mit.edu	37	2	89247276	89247276	+	RNA	SNP	C	C	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr2:89247276C>T	ENST00000496168.1	-	0	199																											AGGAGCTGAGCGGGGACCCTC	0.552000													64	121					0	0	0.003610	0	0
C7	730	broad.mit.edu	37	5	40937762	40937762	+	Silent	SNP	G	G	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr5:40937762G>T	ENST00000313164.9	+	6	896	c.537G>T	c.(535-537)ctG>ctT	p.L179L		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	179	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		p.L179L(1)					Ovarian(839;0.0112)				TCTACAGGCTGAGTGGAAATG	0.378000													11	7					1.58986e-06	1.81933e-06	0.008291	1	0
GTF3C5	9328	broad.mit.edu	37	9	135917627	135917627	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr9:135917627G>A	ENST00000372097.5	+	2	630	c.307G>A	c.(307-309)Gcc>Acc	p.A103T	GTF3C5_ENST00000372108.5_Missense_Mutation_p.A103T|GTF3C5_ENST00000342018.8_Missense_Mutation_p.A103T|GTF3C5_ENST00000485692.1_Intron|GTF3C5_ENST00000372099.6_Missense_Mutation_p.A94T|GTF3C5_ENST00000372095.5_Intron	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	103						transcription factor TFIIIC complex	DNA binding|protein binding	p.A103T(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GGGCACTGAGGCCCACTCCGA	0.532000													32	116					0	0	0.004289	0	0
SLC25A37	51312	broad.mit.edu	37	8	23429006	23429006	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr8:23429006T>C	ENST00000519973.1	+	4	853	c.655T>C	c.(655-657)Tat>Cat	p.Y219H		NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	219					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		p.Y219H(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		CTTCATCACCTATGAGTTCCT	0.657000													3	63					0	0	0.000248	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6380272	6380272	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr4:6380272C>A	ENST00000335585.5	-	3	219	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	PPP2R2C_ENST00000506140.1_Nonsense_Mutation_p.E59*|PPP2R2C_ENST00000382599.4_Nonsense_Mutation_p.E66*|PPP2R2C_ENST00000507294.1_Nonsense_Mutation_p.E59*|PPP2R2C_ENST00000515571.1_Nonsense_Mutation_p.E49*|PPP2R2C_ENST00000314348.8_Intron	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	66				E -> D (in Ref. 2; AAG39636).	signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	p.E66*(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						ACGTCGTATTCGCCCTGGCTG	0.587000													77	83					1.13027e-35	1.53e-35	0.003610	1	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													3	55					0	0	0.000248	0	0
ZC3H4	23211	broad.mit.edu	37	19	47570601	47570601	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr19:47570601C>T	ENST00000253048.5	-	15	2961	c.2924G>A	c.(2923-2925)cGc>cAc	p.R975H	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	975							nucleic acid binding|zinc ion binding	p.R975H(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GAGCACGGTGCGGGCGAAGCT	0.677000													5	268					0	0	0.001168	0	0
LAMB2	3913	broad.mit.edu	37	3	49170269	49170269	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr3:49170269C>A	ENST00000418109.1	-	2	196	c.32G>T	c.(31-33)gGa>gTa	p.G11V	LAMB2_ENST00000305544.4_Missense_Mutation_p.G11V	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	11					cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	p.G11V(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGAGGCTGTCCCCTCCCTCT	0.622000													21	21					1.85244e-09	2.18746e-09	0.003330	1	0
TBX18	9096	broad.mit.edu	37	6	85446869	85446869	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr6:85446869C>T	ENST00000369663.5	-	8	1695	c.1358G>A	c.(1357-1359)aGg>aAg	p.R453K	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	453					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.R453K(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GGAGGGAGTCCTGGGCGGGGC	0.602000													37	40					0	0	0.004878	0	0
SI	6476	broad.mit.edu	37	3	164777791	164777791	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr3:164777791C>T	ENST00000264382.3	-	10	1107	c.1045G>A	c.(1045-1047)Gca>Aca	p.A349T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	349	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.A349T(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTCCAATATGCTGGCATTGCT	0.363000										HNSCC(35;0.089)			3	51					0	0	0.004672	0	0
KLHL38	340359	broad.mit.edu	37	8	124659239	124659239	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr8:124659239T>C	ENST00000325995.7	-	2	1389	c.1366A>G	c.(1366-1368)Aga>Gga	p.R456G	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	456								p.R456G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CACGAGTTTCTGGAAATGTGA	0.438000													53	122					0	0	0.003610	0	0
AKAP13	11214	broad.mit.edu	37	15	86286756	86286756	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr15:86286756C>G	ENST00000394518.2	+	36	8187	c.8092C>G	c.(8092-8094)Cca>Gca	p.P2698A	AKAP13_ENST00000361243.2_Missense_Mutation_p.P2702A|AKAP13_ENST00000394510.2_Missense_Mutation_p.P943A|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2698	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.P2702A(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GATGAGGATCCCATCGTTCTT	0.502000													10	159					0	0	0.000978	0	0
RNF139	11236	broad.mit.edu	37	8	125498172	125498172	+	Silent	SNP	G	G	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr8:125498172G>A	ENST00000303545.3	+	2	654	c.282G>A	c.(280-282)ttG>ttA	p.L94L		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	94					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	p.L94L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTTCAGTGTTGGTGAATTATT	0.428000													41	96					0	0	0.002852	0	0
OR10A6	390093	broad.mit.edu	37	11	7949674	7949674	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr11:7949674C>T	ENST00000309838.2	-	1	535	c.536G>A	c.(535-537)tGt>tAt	p.C179Y		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C179Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGGGGTTTCACAAGATATATG	0.363000													22	22					0	0	0.002780	0	0
MIA3	375056	broad.mit.edu	37	1	222801788	222801788	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr1:222801788A>T	ENST00000344922.5	+	4	1251	c.1226A>T	c.(1225-1227)gAg>gTg	p.E409V	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.E409V|MIA3_ENST00000344507.1_Missense_Mutation_p.E409V	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	409					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	p.E409V(1)		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)		TCTAGTTCAGAGGAAGAAAAA	0.403000													59	114					0	0	0.003610	0	0
LAMB2	3913	broad.mit.edu	37	3	49167754	49167754	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr3:49167754G>A	ENST00000418109.1	-	10	1299	c.1135C>T	c.(1135-1137)Cat>Tat	p.H379Y	LAMB2_ENST00000305544.4_Missense_Mutation_p.H379Y	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	379	Laminin EGF-like 2.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	p.H379Y(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCTGTGTTATGCTGACATCCA	0.597000													47	38					0	0	0.003214	0	0
WDR35	57539	broad.mit.edu	37	2	20135266	20135266	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr2:20135266G>A	ENST00000345530.3	-	22	2661	c.2546C>T	c.(2545-2547)gCc>gTc	p.A849V	WDR35_ENST00000416055.2_Missense_Mutation_p.A414V|WDR35_ENST00000281405.4_Missense_Mutation_p.A838V	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	849								p.A849V(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGTGAAATGGCAAGGTTCTC	0.338000													22	58					0	0	0.003330	0	0
NFATC4	4776	broad.mit.edu	37	14	24839725	24839725	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr14:24839725G>A	ENST00000413692.2	+	3	1454	c.1310G>A	c.(1309-1311)gGc>gAc	p.G437D	NFATC4_ENST00000554344.1_Missense_Mutation_p.G304D|NFATC4_ENST00000556169.1_Missense_Mutation_p.G362D|NFATC4_ENST00000555590.1_Missense_Mutation_p.G387D|NFATC4_ENST00000555453.1_Missense_Mutation_p.G362D|NFATC4_ENST00000553879.1_Missense_Mutation_p.G304D|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000250373.4_Missense_Mutation_p.G374D|NFATC4_ENST00000554966.1_Missense_Mutation_p.G387D|NFATC4_ENST00000539237.2_Missense_Mutation_p.G406D|NFATC4_ENST00000424781.2_Missense_Mutation_p.G387D|NFATC4_ENST00000554591.1_Missense_Mutation_p.G437D|NFATC4_ENST00000554661.1_Missense_Mutation_p.G304D|NFATC4_ENST00000422617.3_Missense_Mutation_p.G362D|NFATC4_ENST00000553469.1_Missense_Mutation_p.G406D|NFATC4_ENST00000557451.1_Missense_Mutation_p.G304D|NFATC4_ENST00000554050.1_Missense_Mutation_p.G374D|NFATC4_ENST00000556279.1_Missense_Mutation_p.G406D|NFATC4_ENST00000553708.1_Missense_Mutation_p.G374D	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	374	RHD.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.G437D(1)|p.G374D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GAGGTGGCTGGCATGGACTAC	0.642000													11	63					0	0	0.001368	0	0
LLGL2	3993	broad.mit.edu	37	17	73566508	73566508	+	Nonsense_Mutation	SNP	C	C	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr17:73566508C>T	ENST00000392550.3	+	16	2071	c.1954C>T	c.(1954-1956)Cag>Tag	p.Q652*	LLGL2_ENST00000167462.5_Nonsense_Mutation_p.Q652*|LLGL2_ENST00000577200.1_Nonsense_Mutation_p.Q652*	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	652					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	p.Q652*(2)		NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	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;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GTCCTTGCGTCAGTCATTCCG	0.692000													6	13					0	0	0.003080	0	0
CSH1	1442	broad.mit.edu	37	17	61972557	61972557	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr17:61972557C>A	ENST00000316193.8	-	5	620	c.479G>T	c.(478-480)cGg>cTg	p.R160L	CSH1_ENST00000329882.8_Silent_p.P244P|CSH1_ENST00000453363.3_Missense_Mutation_p.R65L	NM_001317.5	NP_001308.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	160					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	p.R160L(1)		central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						CTGCCCAGTCCGGCGGCTGCC	0.547000									Russell-Silver syndrome				57	99					3.13765e-25	4.09741e-25	0.003610	1	0
EPT1	85465	broad.mit.edu	37	2	26607932	26607932	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr2:26607932G>C	ENST00000260585.7	+	8	956	c.837G>C	c.(835-837)tgG>tgC	p.W279C		NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN	ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)	279					phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding	p.W279C(1)									GGATCCTTTGGTCACCTTCAG	0.348000													4	37					0	0	0.000248	0	0
TMEM173	340061	broad.mit.edu	37	5	138861279	138861279	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr5:138861279G>C	ENST00000330794.4	-	3	344	c.11C>G	c.(10-12)tCc>tGc	p.S4C	TMEM173_ENST00000511850.1_5'UTR	NM_198282.2	NP_938023.1	Q86WV6	TM173_HUMAN	transmembrane protein 173	4					activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding	p.S4C(1)		endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ATGCAGGCTGGAGTGGGGCAT	0.627000													13	37					0	0	0.001855	0	0
MYPN	84665	broad.mit.edu	37	10	69934146	69934146	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr10:69934146C>G	ENST00000358913.5	+	11	2785	c.2297C>G	c.(2296-2298)tCt>tGt	p.S766C	MYPN_ENST00000354393.2_Missense_Mutation_p.S491C|MYPN_ENST00000540630.1_Missense_Mutation_p.S766C	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	766						nucleus|sarcomere	actin binding	p.S766C(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CTCTTAGTGTCTCACCCCTCT	0.522000													76	64					0	0	0.003610	0	0
OSBPL6	114880	broad.mit.edu	37	2	179248905	179248905	+	Splice_Site	SNP	T	T	C			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr2:179248905T>C	ENST00000190611.4	+	18	2389		c.e18+2		OSBPL6_ENST00000392505.2_Splice_Site|OSBPL6_ENST00000315022.2_Splice_Site|OSBPL6_ENST00000409045.3_Splice_Site|OSBPL6_ENST00000409631.1_Splice_Site|OSBPL6_ENST00000359685.3_Splice_Site	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6						lipid transport		lipid binding	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TCAGAACAGGTAAGCGCCACT	0.443000													32	360					0	0	0.002096	0	0
PTGS1	5742	broad.mit.edu	37	9	125148924	125148924	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr9:125148924C>T	ENST00000600713.1	-	1	4	c.5G>A	c.(4-6)cGt>cAt	p.R2H	PTGS1_ENST00000540753.1_Intron|PTGS1_ENST00000223423.4_Intron|PTGS1_ENST00000373698.5_Silent_p.Y294Y|PTGS1_ENST00000362012.2_Silent_p.Y403Y														p.Y403Y(1)									AGTACAGCTACGAGCAGTTCT	0.572000													14	124					0	0	0.002450	0	0
IGHV3-23	28442	broad.mit.edu	37	14	106725479	106725479	+	RNA	SNP	C	C	G			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr14:106725479C>G	ENST00000390609.2	-	0	151																											CCCCCAGACTCCAACAGCTGC	0.542000													8	145					0	0	0.004482	0	0
FBN3	84467	broad.mit.edu	37	19	8191468	8191468	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr19:8191468C>A	ENST00000600128.1	-	20	2852	c.2438G>T	c.(2437-2439)tGg>tTg	p.W813L	FBN3_ENST00000270509.2_Missense_Mutation_p.W813L|FBN3_ENST00000601739.1_Missense_Mutation_p.W813L			Q75N90	FBN3_HUMAN	fibrillin 3	813	TB 4.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.W813L(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GATCTTCAGCCAGCAGGTGCC	0.677000													21	43					6.44725e-10	7.69511e-10	0.002299	1	0
HKR1	284459	broad.mit.edu	37	19	37853120	37853120	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr19:37853120T>G	ENST00000324411.4	+	6	692	c.423T>G	c.(421-423)agT>agG	p.S141R	HKR1_ENST00000586897.1_3'UTR|HKR1_ENST00000541583.2_Missense_Mutation_p.S80R|HKR1_ENST00000544914.1_5'UTR|HKR1_ENST00000589392.1_Missense_Mutation_p.S123R|HKR1_ENST00000392153.3_Missense_Mutation_p.S122R|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000591471.1_5'UTR	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	141					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S141R(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTTTTCAAGTTTATGGGCAG	0.463000													64	107					0	0	0.003610	0	0
DYNC2H1	79659	broad.mit.edu	37	11	102999641	102999641	+	Silent	SNP	G	G	T			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr11:102999641G>T	ENST00000375735.2	+	13	2004	c.1860G>T	c.(1858-1860)gtG>gtT	p.V620V	DYNC2H1_ENST00000334267.7_Silent_p.V620V|DYNC2H1_ENST00000398093.3_Silent_p.V620V	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	620	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	p.V620V(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTTTGTAGGTGGCACATTTTT	0.254000													21	35					1.01871e-10	1.2291e-10	0.008871	1	0
RIT1	6016	broad.mit.edu	37	1	155874278	155874283	+	In_Frame_Del	DEL	TGGCTG	TGGCTG	-			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr1:155874278_155874283delTGGCTG	ENST00000368323.3	-	5	452_457	c.248_253delCAGCCA	c.(247-255)atg>a	p.TAM83del	RIT1_ENST00000539040.1_In_Frame_Del_p.TAM47del|RIT1_ENST00000368322.3_In_Frame_Del_p.TAM100del|RIT1_ENST00000461050.1_5'UTR	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	83					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			TGGTCCCGCATGGCTGTAAACTCTGC	0.417													35	35	---	---	---	---					
EDEM3	80267	broad.mit.edu	37	1	184690453	184690454	+	Frame_Shift_Ins	INS	-	-	C			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr1:184690453_184690454insC	ENST00000318130.8	-	9	1186_1187	c.920_921insG	c.(919-921)ggafs	p.G307fs	EDEM3_ENST00000367512.3_Frame_Shift_Ins_p.G264fs	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	307					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AACTGTCATCTCCAAGCAAGAC	0.297													60	37	---	---	---	---					
ZNF513	130557	broad.mit.edu	37	2	27600974	27600985	+	In_Frame_Del	DEL	GGGCCCTGGGGC	GGGCCCTGGGGC	-			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr2:27600974_27600985delGGGCCCTGGGGC	ENST00000323703.6	-	4	1251_1262	c.1053_1064delGCCCCAGGGCCC	c.(1051-1065)ggc>gg	p.GPQGP351del	ZNF513_ENST00000407879.1_In_Frame_Del_p.GPQGP289del|ZNF513_ENST00000491924.1_Intron	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	351					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTGTCACTGGGGCCCTGGGGCCCCCCACTGG	0.642													19	120	---	---	---	---					
LOC728730	728730	broad.mit.edu	37	2	39723175	39723176	+	RNA	DEL	GA	GA	-			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr2:39723175_39723176delGA	ENST00000449569.1	+	0	282				AC007246.3_ENST00000422128.1_RNA|AC007246.3_ENST00000426083.1_RNA|AC007246.3_ENST00000443038.1_RNA|AC007246.3_ENST00000446698.1_RNA	NR_037875.1																						tttctttcttgagacagggtct	0.495													3	5	---	---	---	---					
HSPD1P6	645548	broad.mit.edu	37	3	36810381	36810381	+	RNA	DEL	T	T	-			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr3:36810381delT	ENST00000424886.1	-	0	405																											GAGTGAGGCCttttttttttt	0.542													3	6	---	---	---	---					
ARHGEF26	26084	broad.mit.edu	37	3	153839829	153839829	+	Frame_Shift_Del	DEL	T	T	-			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr3:153839829delT	ENST00000356448.4	+	2	332	c.48delT	c.(46-48)ccfs	p.P16fs	ARHGEF26_ENST00000465093.1_Frame_Shift_Del_p.P16fs|ARHGEF26_ENST00000465817.1_Frame_Shift_Del_p.P16fs	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	16					regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						GCATAACCCCTTTGTGGCGGA	0.612													7	21	---	---	---	---					
SCAF8	22828	broad.mit.edu	37	6	155114064	155114065	+	Frame_Shift_Ins	INS	-	-	A			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr6:155114064_155114065insA	ENST00000367178.3	+	5	1005_1006	c.429_430insA	c.(427-432)gtcaccfs	p.T144fs	SCAF8_ENST00000417268.1_Frame_Shift_Ins_p.T144fs|SCAF8_ENST00000461219.1_3'UTR|SCAF8_ENST00000367186.4_Frame_Shift_Ins_p.T210fs	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	144					mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CTCCAGTTGTCACACCTGTTTT	0.396													18	23	---	---	---	---					
AC005077.5	0	broad.mit.edu	37	7	75804673	75804673	+	RNA	DEL	A	A	-			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr7:75804673delA	ENST00000437494.1	+	0	57																											atctcgaaccaaaaaaaaaag	0.542													2	4	---	---	---	---					
LINC01514	101927396	broad.mit.edu	37	10	102941277	102941277	+	RNA	DEL	T	T	-			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr10:102941277delT	ENST00000434189.2	+	0	489																											TCTGCATAAATTTTTTGCATT	0.348													2	4	---	---	---	---					
UBE2Q2P1	388165	broad.mit.edu	37	15	85077360	85077360	+	RNA	DEL	A	A	-			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr15:85077360delA	ENST00000339094.1	-	0	1678					NR_003661.2																						tttttaaactaaaaaaaaaaa	0.373													3	3	---	---	---	---					
NLRC5	84166	broad.mit.edu	37	16	57073747	57073747	+	Frame_Shift_Del	DEL	G	G	-			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr16:57073747delG	ENST00000436936.1	+	16	3081	c.2856delG	c.(2854-2856)aafs	p.K952fs	NLRC5_ENST00000262510.6_Frame_Shift_Del_p.K952fs|NLRC5_ENST00000308149.7_Frame_Shift_Del_p.K952fs|NLRC5_ENST00000539144.1_Frame_Shift_Del_p.K952fs			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	952					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGGAGCAGAAGGGGCCCCAGG	0.572													80	132	---	---	---	---					
TANGO6	79613	broad.mit.edu	37	16	68894367	68894367	+	Frame_Shift_Del	DEL	A	A	-			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr16:68894367delA	ENST00000261778.1	+	2	687	c.675delA	c.(673-675)gcfs	p.A225fs		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		ATATCGCAGCAGGTCTGTGCC	0.493													71	118	---	---	---	---					
SYT4	6860	broad.mit.edu	37	18	40854284	40854284	+	Frame_Shift_Del	DEL	C	C	-			TCGA-73-4675-01A-01D-1265-08	TCGA-73-4675-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59dad620-51f8-4c12-8b09-e635fbde126e	dff88708-c643-4f32-a4e0-88cc1d24807a	g.chr18:40854284delC	ENST00000255224.3	-	2	478	c.110delG	c.(109-111)tcfs	p.C38fs	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Frame_Shift_Del_p.C20fs	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	38						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TCTCTGACAGCAGATCCATGC	0.408													11	38	---	---	---	---