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
OGFR	11054	broad.mit.edu	37	20	61444144	61444144	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr20:61444144G>T	ENST00000370461.1	+	5	3298	c.1021G>T	c.(1021-1023)Gag>Tag	p.E341*	OGFR_ENST00000370468.3_Nonsense_Mutation_p.E393*|OGFR_ENST00000290291.6_Nonsense_Mutation_p.E393*			Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	393					regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					GAGCCGGCGGGAGCAGCCGCC	0.652000													11	11					3.07112e-06	3.76212e-06	1	1	0
NCAN	1463	broad.mit.edu	37	19	19330057	19330057	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:19330057G>T	ENST00000252575.5	+	3	450	c.407G>T	c.(406-408)gGg>gTg	p.G136V		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	136	Ig-like V-type.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			AGTGACTCTGGGCTGTACCGC	0.672000													5	13					4.096e-09	5.84575e-09	1	1	0
TPTE	7179	broad.mit.edu	37	21	10921972	10921972	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr21:10921972C>A	ENST00000298232.7	-	17	1364	c.997G>T	c.(997-999)Gcc>Tcc	p.A333S	TPTE_ENST00000342420.5_Missense_Mutation_p.A313S|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.A351S	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	351	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATAAGGAAGGCACAAACCATA	0.338000													14	39					1.99824e-07	2.59374e-07	1	1	0
FASTKD5	60493	broad.mit.edu	37	20	3128579	3128579	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr20:3128579T>C	ENST00000380266.3	-	2	1459	c.1138A>G	c.(1138-1140)Ata>Gta	p.I380V	UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	380					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						TGAGGAGCTATCTCTCCAATC	0.443000													12	77					0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45937139	45937139	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr22:45937139C>A	ENST00000348697.2	+	9	1100	c.953C>A	c.(952-954)cCg>cAg	p.P318Q	FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000262722.7_Missense_Mutation_p.P318Q|FBLN1_ENST00000340923.5_Missense_Mutation_p.P318Q|FBLN1_ENST00000442170.2_Missense_Mutation_p.P318Q|FBLN1_ENST00000402984.3_Missense_Mutation_p.P356Q|FBLN1_ENST00000327858.6_Missense_Mutation_p.P318Q			P23142	FBLN1_HUMAN	fibulin 1	318	EGF-like 4; calcium-binding (Potential).				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ATCAGTGCCCCGTGCCCTATC	0.527000													12	47					7.93312e-07	1.001e-06	1	1	0
ZMAT5	55954	broad.mit.edu	37	22	30136662	30136662	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr22:30136662T>A	ENST00000397781.3	-	5	498	c.248A>T	c.(247-249)cAg>cTg	p.Q83L	ZMAT5_ENST00000344318.3_Missense_Mutation_p.Q83L	NM_019103.2	NP_061976.1	Q9UDW3	ZMAT5_HUMAN	zinc finger, matrin-type 5	83					mRNA processing	cytoplasm|U12-type spliceosomal complex	nucleic acid binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)			GCTCAGCTCCTGCAGGTCTCG	0.632000													6	8					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173365	126173365	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:126173365T>A	ENST00000339582.2	-	9	2879	c.2071A>T	c.(2071-2073)Agt>Tgt	p.S691C	GRM8_ENST00000358373.3_Missense_Mutation_p.S691C|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.S691C			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	691					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GATGCTGGACTAATGAACTTG	0.498000										HNSCC(24;0.065)			43	53					0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84523327	84523327	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chrX:84523327A>G	ENST00000360700.4	+	8	1968	c.1082A>G	c.(1081-1083)tAt>tGt	p.Y361C	ZNF711_ENST00000395402.1_Intron|ZNF711_ENST00000276123.3_Missense_Mutation_p.Y315C|ZNF711_ENST00000373165.3_Missense_Mutation_p.Y315C|ZNF711_ENST00000542798.1_Missense_Mutation_p.Y157C			Q9Y462	ZN711_HUMAN	zinc finger protein 711	315					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TCCCGAAGGTATGAAGATTGT	0.303000													3	11					0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127797417	127797417	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr6:127797417G>A	ENST00000556132.1	-	6	2618	c.1754C>T	c.(1753-1755)gCc>gTc	p.A585V	SOGA3_ENST00000525778.1_Missense_Mutation_p.A585V|SOGA3_ENST00000481848.2_Missense_Mutation_p.A585V|SOGA3_ENST00000368268.2_Missense_Mutation_p.A585V|SOGA3_ENST00000465909.2_Missense_Mutation_p.A585V	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	585						integral to membrane											CTTGAGCTCGGCCTCCCTAGT	0.557000													14	30					0	0	1	0	0
HDAC11	79885	broad.mit.edu	37	3	13546094	13546094	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr3:13546094C>G	ENST00000295757.3	+	10	1138	c.955C>G	c.(955-957)Ctg>Gtg	p.L319V	HDAC11_ENST00000522202.1_Missense_Mutation_p.L268V|HDAC11_ENST00000402259.1_Missense_Mutation_p.L153V|HDAC11_ENST00000446613.2_Missense_Mutation_p.L127V|HDAC11_ENST00000402271.1_Missense_Mutation_p.L240V|HDAC11_ENST00000433119.1_3'UTR|HDAC11_ENST00000404040.1_Missense_Mutation_p.L219V|HDAC11_ENST00000437379.2_Missense_Mutation_p.L291V	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	319	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding	p.L319L(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						CATACTTAATCTGTTTGGCCT	0.622000													5	37					0	0	1	0	0
DCP1A	55802	broad.mit.edu	37	3	53326317	53326317	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr3:53326317G>A	ENST00000607628.1	-	7	1274	c.1165C>T	c.(1165-1167)Ctc>Ttc	p.L389F	DCP1A_ENST00000606822.1_Missense_Mutation_p.L351F|DCP1A_ENST00000294241.6_Missense_Mutation_p.L389F|DCP1A_ENST00000480258.1_5'UTR	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	389					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		ACGCTTGGGAGGGATGTGCCA	0.542000													24	58					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8517893	8517893	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr9:8517893C>A	ENST00000381196.4	-	18	2041	c.1498G>T	c.(1498-1500)Gat>Tat	p.D500Y	PTPRD_ENST00000540109.1_Missense_Mutation_p.D500Y|PTPRD_ENST00000360074.4_Missense_Mutation_p.D487Y|PTPRD_ENST00000358503.5_Missense_Mutation_p.D487Y|PTPRD_ENST00000486161.1_Missense_Mutation_p.D500Y|PTPRD_ENST00000356435.5_Missense_Mutation_p.D500Y|PTPRD_ENST00000355233.5_Missense_Mutation_p.D500Y|PTPRD_ENST00000397606.3_Missense_Mutation_p.D490Y|PTPRD_ENST00000397611.3_Missense_Mutation_p.D497Y|PTPRD_ENST00000397617.3_Missense_Mutation_p.D490Y|PTPRD_ENST00000537002.1_Missense_Mutation_p.D497Y	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	500	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGGGGACCATCTCCAATTGAG	0.463000										TSP Lung(15;0.13)			20	43					6.21321e-17	1.06203e-16	1	1	0
GSG1L	146395	broad.mit.edu	37	16	27818870	27818870	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr16:27818870T>A	ENST00000380898.2	-	7	974	c.425A>T	c.(424-426)gAg>gTg	p.E142V	GSG1L_ENST00000380897.3_Missense_Mutation_p.E124V|GSG1L_ENST00000395724.3_Missense_Mutation_p.E228V|GSG1L_ENST00000569166.1_Missense_Mutation_p.E142V|GSG1L_ENST00000447459.2_Missense_Mutation_p.E279V			Q6UXU4	GSG1L_HUMAN	GSG1-like	279						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						GTCCCTCTTCTCCATCCTGGA	0.488000													16	22					0	0	1	0	0
SH3BGR	6450	broad.mit.edu	37	21	40871829	40871829	+	Silent	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr21:40871829C>T	ENST00000333634.4	+	4	660	c.582C>T	c.(580-582)gcC>gcT	p.A194A	SH3BGR_ENST00000458295.1_Intron|SH3BGR_ENST00000380637.3_Silent_p.A83A|SH3BGR_ENST00000380634.1_Silent_p.A83A|SH3BGR_ENST00000380631.1_Silent_p.A83A	NM_007341.2	NP_031367.1	P55822	SH3BG_HUMAN	SH3 domain binding glutamic acid-rich protein	194	Glu-rich (acidic).				protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		TCCCTGAAGCCCAGGAGAAGA	0.483000													13	61					0	0	1	0	0
OR8J1	219477	broad.mit.edu	37	11	56127775	56127775	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:56127775C>G	ENST00000303039.3	+	1	85	c.53C>G	c.(52-54)tCt>tGt	p.S18C		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S18F(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					ACAGGTGTCTCTAGCTGTCCA	0.478000													29	47					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88323889	88323889	+	Silent	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:88323889G>T	ENST00000418177.2	-	7	1937	c.1570C>A	c.(1570-1572)Cga>Aga	p.R524R	GRM5_ENST00000305447.4_Silent_p.R524R|GRM5_ENST00000393297.1_Silent_p.R524R|GRM5_ENST00000305432.5_Silent_p.R524R|GRM5_ENST00000455756.2_Silent_p.R524R			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	524					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TCTCCCTTTCGGATCACCTAA	0.388000													21	59					9.86323e-18	1.70576e-17	1	1	0
SLC6A17	388662	broad.mit.edu	37	1	110734689	110734689	+	Silent	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:110734689C>A	ENST00000331565.4	+	7	1445	c.960C>A	c.(958-960)tcC>tcA	p.S320S		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	320					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TTGCCTTCTCCAGCTACAATA	0.567000													9	45					1.58986e-06	1.98059e-06	1	1	0
GRM8	2918	broad.mit.edu	37	7	126173364	126173364	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:126173364C>A	ENST00000339582.2	-	9	2880	c.2072G>T	c.(2071-2073)aGt>aTt	p.S691I	GRM8_ENST00000358373.3_Missense_Mutation_p.S691I|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.S691I			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	691					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.S691T(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGATGCTGGACTAATGAACTT	0.502000										HNSCC(24;0.065)			43	53					5.82388e-19	1.02528e-18	1	1	0
RASGRP4	115727	broad.mit.edu	37	19	38901791	38901791	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:38901791G>T	ENST00000454404.2	-	15	1927	c.1714C>A	c.(1714-1716)Cct>Act	p.P572T	RASGRP4_ENST00000587753.1_Missense_Mutation_p.P537T|RASGRP4_ENST00000587738.1_Missense_Mutation_p.P606T|RASGRP4_ENST00000586305.1_Missense_Mutation_p.P592T|RASGRP4_ENST00000426920.2_Missense_Mutation_p.P417T|RASGRP4_ENST00000293062.9_Missense_Mutation_p.P509T|RASGRP4_ENST00000433821.2_Missense_Mutation_p.P514T	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	606					activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GATGGGACAGGAGCTCCGGGG	0.612000													16	20					1.66031e-10	2.45909e-10	1	1	0
CACNA1C	775	broad.mit.edu	37	12	2714876	2714876	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr12:2714876G>A	ENST00000399655.1	+	24	3345	c.3080G>A	c.(3079-3081)cGg>cAg	p.R1027Q	CACNA1C_ENST00000480911.1_Missense_Mutation_p.R1027Q|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1027Q|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R1027Q|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R1027Q|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R1027Q|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1047Q|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1052Q|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1027Q|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R1027Q|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1027Q|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R1047Q|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1027Q|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1027Q|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R1027Q|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R1027Q|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1027Q|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1027Q|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1027Q|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1027Q|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1027Q|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1027Q|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1027Q	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1047					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GTCGCCATCCGGACCATCGGG	0.577000													39	53					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109753571	109753571	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr4:109753571C>A	ENST00000399132.1	-	32	2205	c.1675G>T	c.(1675-1677)Gga>Tga	p.G559*	COL25A1_ENST00000399127.1_Nonsense_Mutation_p.G571*|COL25A1_ENST00000399126.1_Nonsense_Mutation_p.G559*	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	559						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCATGGGGTCCCATAGGACCA	0.393000													5	15					0.00198382	0.00214822	1	1	0
COL6A6	131873	broad.mit.edu	37	3	130284056	130284056	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr3:130284056C>A	ENST00000358511.6	+	3	911	c.880C>A	c.(880-882)Cag>Aag	p.Q294K	COL6A6_ENST00000453409.2_Missense_Mutation_p.Q294K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	294	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AGAGGTTCTCCAGCATATACA	0.453000													15	16					8.60227e-14	1.382e-13	1	1	0
CYTH1	9267	broad.mit.edu	37	17	76695001	76695001	+	Silent	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr17:76695001C>A	ENST00000589297.1	-	8	1115	c.423G>T	c.(421-423)ctG>ctT	p.L141L	CYTH1_ENST00000361101.4_Silent_p.L200L|CYTH1_ENST00000585509.1_Silent_p.L141L|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000591455.1_Silent_p.L200L|CYTH1_ENST00000446868.3_Silent_p.L200L			Q15438	CYH1_HUMAN	cytohesin 1	200	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						TGGGGTTGTGCAGACTGGTGT	0.512000													40	241					5.57489e-27	1.04396e-26	1	1	0
ZNF100	163227	broad.mit.edu	37	19	21910143	21910143	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:21910143T>C	ENST00000358296.6	-	5	1169	c.971A>G	c.(970-972)aAa>aGa	p.K324R	ZNF100_ENST00000305570.6_Missense_Mutation_p.K260R	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						GTTAAAAGCTTTGCCACATTC	0.408000													34	69					0	0	1	0	0
HBD	3045	broad.mit.edu	37	11	5255342	5255342	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:5255342C>A	ENST00000380299.3	-	2	408	c.194G>T	c.(193-195)gGc>gTc	p.G65V	HBD_ENST00000292901.3_Missense_Mutation_p.G65V	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	65					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACCTTCTTGCCATGAGCCTT	0.532000													25	55					1.2476e-16	2.1202e-16	1	1	0
KCNA10	3744	broad.mit.edu	37	1	111061202	111061202	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:111061202A>G	ENST00000369771.2	-	1	595	c.208T>C	c.(208-210)Tat>Cat	p.Y70H		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	70						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		GGGTCAGCATAGTCTCCCGGA	0.577000													10	42					0	0	1	0	0
ALLC	55821	broad.mit.edu	37	2	3749982	3749982	+	Silent	SNP	T	T	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:3749982T>C	ENST00000252505.3	+	12	1167	c.1005T>C	c.(1003-1005)gaT>gaC	p.D335D	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	354							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		ATCTGTTCGATAGCCTGACCC	0.587000										HNSCC(21;0.051)			4	16					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152083804	152083804	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:152083804C>A	ENST00000368804.1	-	2	1888	c.1889G>T	c.(1888-1890)cGc>cTc	p.R630L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	630	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCTGCTGGCGCCTCTCTTC	0.677000													3	57					0.00909568	0.0096539	1	1	0
FAM126B	285172	broad.mit.edu	37	2	201888717	201888717	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:201888717G>A	ENST00000418596.2	-	3	203	c.16C>T	c.(16-18)Cgt>Tgt	p.R6C		NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	6						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						ACAACACAACGGTCAGTTCCC	0.323000													26	40					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80874880	80874880	+	Silent	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:80874880C>A	ENST00000466387.1	+	22	3325	c.2601C>A	c.(2599-2601)ccC>ccA	p.P867P	CTNNA2_ENST00000402739.4_Silent_p.P915P|CTNNA2_ENST00000361291.4_Silent_p.P901P|CTNNA2_ENST00000540488.1_Silent_p.P822P|CTNNA2_ENST00000496558.1_Silent_p.P867P|CTNNA2_ENST00000343114.3_Silent_p.P546P|CTNNA2_ENST00000541047.1_Silent_p.P867P			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	915					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGAAGAAGCCCCTTGTGAAGA	0.468000													34	60					4.14481e-20	7.43033e-20	1	1	0
AMER3	205147	broad.mit.edu	37	2	131521341	131521341	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:131521341C>A	ENST00000423981.1	+	2	1806	c.1696C>A	c.(1696-1698)Cag>Aag	p.Q566K	AMER3_ENST00000321420.4_Missense_Mutation_p.Q566K	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		ACCCAGCAGGCAGGAGCTGTG	0.692000													3	11					6.4e-05	7.43879e-05	1	1	0
ABCA10	10349	broad.mit.edu	37	17	67148534	67148534	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr17:67148534G>A	ENST00000269081.4	-	36	5134	c.4225C>T	c.(4225-4227)Cgt>Tgt	p.R1409C	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1409	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ATGGCCATACGGTCACACACA	0.493000													4	44					0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22749343	22749343	+	RNA	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr4:22749343G>T	ENST00000503442.1	+	0	377				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCAACTCAGTGTCTGACCAGG	0.433000													12	111					1.5842e-08	2.22317e-08	1	1	0
SSPO	23145	broad.mit.edu	37	7	149499006	149499006	+	RNA	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:149499006G>T	ENST00000378016.2	+	0	7458							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGACCTGCGGCCTGACTGCC	0.687000													4	33					0.00116845	0.00127231	1	1	0
EXT1	2131	broad.mit.edu	37	8	118817013	118817013	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr8:118817013G>A	ENST00000378204.2	-	10	2809	c.2003C>T	c.(2002-2004)cCt>cTt	p.P668L		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	668					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TTTGATTGGAGGCAATTTTGT	0.478000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				9	79					0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201534333	201534333	+	Silent	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:201534333C>T	ENST00000374700.2	+	34	4075	c.3834C>T	c.(3832-3834)tcC>tcT	p.S1278S	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1278					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TGGGGTGTTCCGTGTTTTTCG	0.502000													11	220					0	0	1	0	0
FUK	197258	broad.mit.edu	37	16	70513219	70513219	+	Silent	SNP	T	T	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr16:70513219T>C	ENST00000288078.6	+	23	3298	c.3066T>C	c.(3064-3066)gcT>gcC	p.A1022A	FUK_ENST00000378912.2_Silent_p.A1028A|FUK_ENST00000571514.1_Silent_p.A513A	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	1022						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				AGAGCCTGGCTGGGGCAGGCG	0.627000													16	25					0	0	1	0	0
RNASE3	6037	broad.mit.edu	37	14	21360130	21360130	+	Silent	SNP	C	C	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr14:21360130C>G	ENST00000304639.3	+	2	343	c.285C>G	c.(283-285)ctC>ctG	p.L95L		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	95					defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	ACAGAACTCTCAACAATTGTC	0.413000													25	40					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96962883	96962883	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr3:96962883G>T	ENST00000389672.5	+	5	1396	c.1358G>T	c.(1357-1359)gGg>gTg	p.G453V	EPHA6_ENST00000470610.2_Missense_Mutation_p.G453V	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	358	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GACACAGGAGGGAGAAAAGAT	0.468000													4	7					1.23904e-05	1.48989e-05	1	1	0
MBL2	4153	broad.mit.edu	37	10	54527994	54527994	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr10:54527994C>T	ENST00000373968.3	-	4	714	c.650G>A	c.(649-651)gGt>gAt	p.G217D		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	217	C-type lectin.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						TTCATCAGAACCAGCATTGTT	0.498000													158	112					0	0	1	0	0
BRD8	10902	broad.mit.edu	37	5	137495798	137495798	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr5:137495798C>T	ENST00000254900.5	-	19	2863	c.2492G>A	c.(2491-2493)cGa>cAa	p.R831Q	BRD8_ENST00000455658.2_Missense_Mutation_p.R790Q|BRD8_ENST00000402931.1_Missense_Mutation_p.R831Q|BRD8_ENST00000411594.2_Missense_Mutation_p.R834Q|BRD8_ENST00000230901.5_Missense_Mutation_p.R904Q	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	831					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATCTCTCCCTCGAAGACTTTT	0.502000													12	87					0	0	1	0	0
ANKRD16	54522	broad.mit.edu	37	10	5930007	5930007	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr10:5930007G>C	ENST00000380094.5	-	2	881	c.338C>G	c.(337-339)aCa>aGa	p.T113R	ANKRD16_ENST00000191063.8_Missense_Mutation_p.T113R|ANKRD16_ENST00000380092.4_Missense_Mutation_p.T113R	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	113										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						GTTCTTCCTTGTGCAGGCCAT	0.537000													11	95					0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033819	82033819	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr16:82033819C>A	ENST00000328945.5	-	3	206	c.79G>T	c.(79-81)Gcc>Tcc	p.A27S	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	27					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						TGGTTCAGGGCACAGCCCAGG	0.443000													40	33					1.03325e-14	1.68763e-14	1	1	0
NCDN	23154	broad.mit.edu	37	1	36026262	36026262	+	Silent	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:36026262G>A	ENST00000373243.2	+	3	893	c.510G>A	c.(508-510)cgG>cgA	p.R170R	NCDN_ENST00000356090.4_Silent_p.R170R|NCDN_ENST00000373253.3_Silent_p.R153R|NCDN_ENST00000459931.1_3'UTR	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	170					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAGGGCCTCGGCACCTCATTG	0.662000													3	33					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200943242	200943242	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:200943242C>T	ENST00000332129.2	-	34	5172	c.4856G>A	c.(4855-4857)cGc>cAc	p.R1619H	KIF21B_ENST00000422435.2_Missense_Mutation_p.R1632H|KIF21B_ENST00000461742.2_Intron|KIF21B_ENST00000360529.5_Intron	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1632					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGTGGTGGCGCGGCCCTTTAT	0.592000													13	17					0	0	1	0	0
TRGJP2	6972	broad.mit.edu	37	7	38295957	38295957	+	RNA	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:38295957C>A	ENST00000390334.1	-	0	40																											TTACTATGAGCCTAGTCCCTT	0.348000													9	18					1.36491e-13	2.1691e-13	1	1	0
ZNF518B	85460	broad.mit.edu	37	4	10445615	10445615	+	Missense_Mutation	SNP	C	C	A	rs80340183		TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr4:10445615C>A	ENST00000326756.3	-	3	2776	c.2338G>T	c.(2338-2340)Gtt>Ttt	p.V780F		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	780					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GAATTAAGAACCCTCAACACA	0.463000													4	34					0.00024832	0.000280793	1	1	0
AKR1B15	441282	broad.mit.edu	37	7	134260294	134260294	+	Splice_Site	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:134260294G>T	ENST00000457545.2	+	7	896	c.636_splice	c.e7+1	p.Q212_splice	AKR1B15_ENST00000423958.1_Splice_Site_p.Q184_splice	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	212							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						TGACTAACCAGGTAAATTCTA	0.458000													42	110					3.28156e-27	6.16471e-27	1	1	0
ANK2	287	broad.mit.edu	37	4	114279924	114279924	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr4:114279924C>G	ENST00000357077.4	+	38	10203	c.10150C>G	c.(10150-10152)Cca>Gca	p.P3384A	ANK2_ENST00000264366.6_Missense_Mutation_p.P3351A|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3351					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAGCATCGCACCAGATAATAG	0.463000													13	69					0	0	1	0	0
CDS1	1040	broad.mit.edu	37	4	85560101	85560101	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr4:85560101G>C	ENST00000295887.5	+	9	1258	c.835G>C	c.(835-837)Gga>Cga	p.G279R		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	279					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		GACTTGGGAAGGATTCATTGG	0.279000													6	10					0	0	1	0	0
PTCD1	26024	broad.mit.edu	37	7	99022666	99022666	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:99022666C>A	ENST00000292478.4	-	6	1739	c.1489G>T	c.(1489-1491)Gtg>Ttg	p.V497L	PTCD1_ENST00000555673.1_Missense_Mutation_p.V546L|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.V546L	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CCGGACTCCACCACCTCGGCC	0.617000													49	62					3.93605e-18	6.8881e-18	1	1	0
RP1L1	94137	broad.mit.edu	37	8	10466664	10466664	+	Silent	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr8:10466664G>T	ENST00000382483.3	-	4	5167	c.4944C>A	c.(4942-4944)ggC>ggA	p.G1648G		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1648					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCGCCTCCTCGCCCAGCTGGC	0.677000													8	15					1.58986e-06	1.98059e-06	1	1	0
ATCAY	85300	broad.mit.edu	37	19	3917771	3917771	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:3917771G>C	ENST00000450849.2	+	10	1464	c.997G>C	c.(997-999)Gag>Cag	p.E333Q	ATCAY_ENST00000600960.1_Missense_Mutation_p.E333Q|ATCAY_ENST00000398448.3_Missense_Mutation_p.E339Q|ATCAY_ENST00000301260.6_Missense_Mutation_p.E333Q	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	333					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GGCCAGGAGGGAGAGGTGTGT	0.542000													10	23					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74289852	74289852	+	Missense_Mutation	SNP	C	C	T	rs138229886		TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr17:74289852C>T	ENST00000262765.5	-	4	637	c.458G>A	c.(457-459)cGt>cAt	p.R153H		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	153							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						AGCTTCATCACGGGCCCTCGG	0.542000													4	48					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10351287	10351287	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr17:10351287G>T	ENST00000255381.2	-	34	4923	c.4813C>A	c.(4813-4815)Ctg>Atg	p.L1605M	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1605					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCAGCATCCAGTGTACTCTGC	0.438000													32	87					8.69298e-16	1.45212e-15	1	1	0
C19orf59	199675	broad.mit.edu	37	19	7743422	7743422	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:7743422G>T	ENST00000333598.3	+	5	873	c.419G>T	c.(418-420)tGg>tTg	p.W140L	C19orf59_ENST00000597445.1_Missense_Mutation_p.W97L|CTD-3214H19.16_ENST00000597959.1_Silent_p.L12L	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN	chromosome 19 open reading frame 59	140						integral to membrane				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						AAGAGAGGCTGGGATTCCGTT	0.527000											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	29					2.61681e-11	3.98624e-11	1	1	0
MAG	4099	broad.mit.edu	37	19	35791212	35791212	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:35791212T>A	ENST00000361922.4	+	6	1025	c.875T>A	c.(874-876)cTg>cAg	p.L292Q	MAG_ENST00000537831.2_Missense_Mutation_p.L267Q|MAG_ENST00000392213.3_Missense_Mutation_p.L292Q	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	292	Ig-like C2-type 2.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CTCCTGGAGCTGGAGGAGGTG	0.682000													8	13					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22903141	22903141	+	Silent	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:22903141C>A	ENST00000166244.3	+	3	663	c.591C>A	c.(589-591)ctC>ctA	p.L197L	EPHA8_ENST00000374644.4_Silent_p.L197L|EPHA8_ENST00000538803.1_Silent_p.L197L	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	197	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCCTCTCTCTCCGCATCTACT	0.622000													14	28					9.16793e-09	1.29274e-08	1	1	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	by1000genomes	TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			5	16					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156821946	156821946	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:156821946C>A	ENST00000368195.3	-	3	1071	c.675G>T	c.(673-675)agG>agT	p.R225S	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	225					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGCACTCGCCCCTCGCTGTGC	0.647000													41	36					3.16986e-14	5.13465e-14	1	1	0
SPTBN4	57731	broad.mit.edu	37	19	41062044	41062044	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:41062044G>T	ENST00000352632.3	+	25	5225	c.5139G>T	c.(5137-5139)aaG>aaT	p.K1713N	SPTBN4_ENST00000338932.3_Missense_Mutation_p.K1713N|SPTBN4_ENST00000392025.1_Missense_Mutation_p.K456N|SPTBN4_ENST00000595535.1_Missense_Mutation_p.K1713N|SPTBN4_ENST00000392023.1_Missense_Mutation_p.K389N|SPTBN4_ENST00000598249.1_Missense_Mutation_p.K1713N			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1713					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGCGCTCAAGGAGCTGGGTG	0.647000													12	12					6.40141e-05	7.43879e-05	1	1	0
NLRP5	126206	broad.mit.edu	37	19	56539104	56539104	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:56539104A>G	ENST00000390649.3	+	7	1505	c.1505A>G	c.(1504-1506)cAc>cGc	p.H502R		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	502	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ACAGGCCTGCACGCCGCTTTT	0.632000													5	17					0	0	1	0	0
POPDC2	64091	broad.mit.edu	37	3	119367247	119367247	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr3:119367247C>G	ENST00000493094.1	-	3	1328	c.869G>C	c.(868-870)tGt>tCt	p.C290S	POPDC2_ENST00000468801.1_Missense_Mutation_p.C290S|POPDC2_ENST00000264231.3_Missense_Mutation_p.C290S|POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000538678.1_Missense_Mutation_p.C290S			Q9HBU9	POPD2_HUMAN	popeye domain containing 2	290						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		AGCTGGCTCACAGACTTCCTC	0.602000													33	37					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140743982	140743982	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr5:140743982G>A	ENST00000518069.1	+	1	85	c.85G>A	c.(85-87)Ggg>Agg	p.G29R	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAGGATCCGGGCAGATCCG	0.662000													10	9					0	0	1	0	0
PFKFB1	5207	broad.mit.edu	37	X	54978518	54978518	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chrX:54978518G>T	ENST00000375006.3	-	8	736	c.666C>A	c.(664-666)gaC>gaA	p.D222E	PFKFB1_ENST00000545676.1_Missense_Mutation_p.D157E|PFKFB1_ENST00000374992.2_Intron	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	222	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GTGTGCCCACGTCGAAGATCT	0.567000													8	7					6.40141e-05	7.43879e-05	1	1	0
BRIP1	83990	broad.mit.edu	37	17	59763348	59763348	+	Silent	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr17:59763348G>A	ENST00000259008.2	-	19	3021	c.2754C>T	c.(2752-2754)acC>acT	p.T918T	BRIP1_ENST00000577598.1_Silent_p.T918T	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	918	Interaction with BRCA1.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						AATAAGGTGAGGTACTGTACT	0.363000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					21	82					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30992018	30992018	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr18:30992018G>A	ENST00000383096.3	-	3	217	c.35C>T	c.(34-36)aCt>aTt	p.T12I	CCDC178_ENST00000402325.1_Missense_Mutation_p.T12I|CCDC178_ENST00000579916.1_Missense_Mutation_p.T12I|CCDC178_ENST00000583930.1_Missense_Mutation_p.T12I|CCDC178_ENST00000300227.8_Missense_Mutation_p.T12I|CCDC178_ENST00000406524.2_Missense_Mutation_p.T12I|CCDC178_ENST00000403303.1_Missense_Mutation_p.T12I|CCDC178_ENST00000579947.1_Missense_Mutation_p.T12I					coiled-coil domain containing 178																		ATCATCTCTAGTGGAAGAAGA	0.269000													3	17					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24885806	24885806	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr10:24885806T>C	ENST00000396432.2	-	17	3826	c.3340A>G	c.(3340-3342)Acc>Gcc	p.T1114A	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.T901A	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1113					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GGGGGACTGGTATCATCTTTT	0.343000													20	15					0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17581246	17581246	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr8:17581246C>T	ENST00000262102.6	-	4	2608	c.2384G>A	c.(2383-2385)cGg>cAg	p.R795Q	MTUS1_ENST00000519263.1_Intron|MTUS1_ENST00000381869.3_Intron	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	795						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TCCTGTCCTCCGCAGCGCAGG	0.488000													8	32					0	0	1	0	0
ATP6V0B	533	broad.mit.edu	37	1	44441782	44441782	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:44441782C>G	ENST00000532642.1	+	3	234	c.137C>G	c.(136-138)cCc>cGc	p.P46R	ATP6V0B_ENST00000472277.1_3'UTR|ATP6V0B_ENST00000236067.4_5'UTR|ATP6V0B_ENST00000498664.1_5'UTR|ATP6V0B_ENST00000472174.2_Missense_Mutation_p.P46R|ATP6V0B_ENST00000471859.2_Missense_Mutation_p.P93R			Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	46					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GAGACTTCGCCCTTCATGTGG	0.572000													33	113					0	0	1	0	0
AFG3L2	10939	broad.mit.edu	37	18	12358888	12358888	+	Silent	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr18:12358888G>A	ENST00000269143.3	-	8	1038	c.807C>T	c.(805-807)taC>taT	p.Y269Y		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	269					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	TTCTGATGGTGTAGAGCAAGA	0.572000													6	20					0	0	1	0	0
IRGQ	126298	broad.mit.edu	37	19	44097349	44097349	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:44097349T>C	ENST00000422989.1	-	3	856	c.701A>G	c.(700-702)gAc>gGc	p.D234G	IRGQ_ENST00000602269.1_Missense_Mutation_p.D234G	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	234							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				AAGGCCCACGTCAGCCTTGCC	0.687000													7	37					0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124765732	124765732	+	Silent	SNP	C	C	A	rs148618121		TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:124765732C>A	ENST00000306534.3	-	5	1241	c.756G>T	c.(754-756)ccG>ccT	p.P252P	ROBO4_ENST00000533054.1_Silent_p.P107P|ROBO4_ENST00000526899.1_5'UTR	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	252	Fibronectin type-III 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CTGCAGGATCCGGGTTCAGCA	0.597000													18	41					2.94398e-08	3.97945e-08	1	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18504846	18504846	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr9:18504846C>G	ENST00000380548.4	+	2	422	c.83C>G	c.(82-84)tCc>tGc	p.S28C	ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.S28C|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.S28C|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.S28C|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.S28C|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.S28C	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	28						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ACCGCACGCTCCGAGGAGGAC	0.582000													24	49					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32624181	32624181	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr21:32624181C>T	ENST00000286827.3	-	6	1759	c.1288G>A	c.(1288-1290)Gca>Aca	p.A430T	TIAM1_ENST00000541036.1_Missense_Mutation_p.A430T|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	430					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GTGCCCTGTGCGGCGGTCAGC	0.662000													22	57					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57193821	57193821	+	Splice_Site	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:57193821C>A	ENST00000331162.4	-	4	437		c.e4-1			NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ACAGCAATACCTGTTTTATTA	0.328000													19	33					1.00905e-13	1.61228e-13	1	1	0
CDH2	1000	broad.mit.edu	37	18	25543383	25543383	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr18:25543383G>T	ENST00000269141.3	-	15	2875	c.2452C>A	c.(2452-2454)Ccc>Acc	p.P818T	AC015933.2_ENST00000423367.1_RNA|CDH2_ENST00000399380.3_Missense_Mutation_p.P787T	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	818					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GGATACTGGGGCTCGGCGTGG	0.532000													8	10					0.00448238	0.00481835	1	1	0
GPR61	83873	broad.mit.edu	37	1	110086448	110086448	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:110086448C>A	ENST00000527748.1	+	2	1487	c.804C>A	c.(802-804)agC>agA	p.S268R	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	268						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGGTCACCAGCTCGGGGGCCC	0.677000													9	39					2.17888e-05	2.57783e-05	1	1	0
ELL	8178	broad.mit.edu	37	19	18576628	18576628	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:18576628C>A	ENST00000262809.4	-	3	355	c.284G>T	c.(283-285)tGc>tTc	p.C95F		NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	95					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		CTGCTGGATGCAGTCGAAGCT	0.662000			T	MLL	AL								17	23					0.000295444	0.000332162	1	1	0
CHRM4	1132	broad.mit.edu	37	11	46408006	46408006	+	Silent	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:46408006G>A	ENST00000433765.2	-	1	101	c.102C>T	c.(100-102)ttC>ttT	p.F34F		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	34					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	CTGTGGCAATGAAGACCATTT	0.557000													12	75					0	0	1	0	0
LDHC	3948	broad.mit.edu	37	11	18436732	18436732	+	Splice_Site	SNP	A	A	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:18436732A>T	ENST00000541669.1	+	3	239	c.126_splice	c.e3-1	p.D43_splice	LDHC_ENST00000537486.1_Splice_Site_p.D43_splice|LDHC_ENST00000535809.1_Splice_Site_p.D43_splice|LDHC_ENST00000536880.1_Splice_Site_p.D43_splice|LDHC_ENST00000544105.1_Splice_Site_p.D43_splice|LDHC_ENST00000280704.4_Splice_Site_p.D43_splice|LDHC_ENST00000546146.1_Splice_Site_p.D43_splice			P07864	LDHC_HUMAN	lactate dehydrogenase C	43					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	ATATTTTAGGATTTGGCTGAT	0.338000													13	25					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089745	86089745	+	Silent	SNP	C	C	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr14:86089745C>G	ENST00000330753.4	+	2	2654	c.1887C>G	c.(1885-1887)acC>acG	p.T629T	FLRT2_ENST00000554746.1_Silent_p.T629T	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	629					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CCATTTACACCCCAAATGGGG	0.478000													62	220					0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92821574	92821574	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:92821574G>T	ENST00000394468.2	-	9	1455	c.1378C>A	c.(1378-1380)Cat>Aat	p.H460N	HEPACAM2_ENST00000492616.1_5'UTR|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.H448N|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.H483N|HEPACAM2_ENST00000440868.1_Silent_p.T439T	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	460						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TACTCTGGATGGTCTTGCTGC	0.458000													50	74					1.17673e-23	2.16902e-23	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113694857	113694857	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr8:113694857G>T	ENST00000297405.5	-	16	2735	c.2491C>A	c.(2491-2493)Cat>Aat	p.H831N	CSMD3_ENST00000343508.3_Missense_Mutation_p.H791N|CSMD3_ENST00000352409.3_Missense_Mutation_p.H831N|CSMD3_ENST00000455883.2_Missense_Mutation_p.H727N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	831						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATTCATTATGTCCAAATGCT	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			31	62					2.49991e-28	4.74177e-28	1	1	0
PLXNA4	91584	broad.mit.edu	37	7	132192823	132192823	+	Silent	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:132192823C>A	ENST00000359827.3	-	2	1592	c.630G>T	c.(628-630)gcG>gcT	p.A210A	PLXNA4_ENST00000321063.4_Silent_p.A210A|PLXNA4_ENST00000378539.5_Silent_p.A210A|PLXNA4_ENST00000423507.2_Silent_p.A210A			Q9HCM2	PLXA4_HUMAN	plexin A4	210	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ACATGCCATCCGCCTCAGAGT	0.517000													31	90					2.20474e-14	3.59109e-14	1	1	0
LRFN2	57497	broad.mit.edu	37	6	40360552	40360552	+	Silent	SNP	C	C	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr6:40360552C>G	ENST00000338305.6	-	3	2042	c.1500G>C	c.(1498-1500)acG>acC	p.T500T		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	500	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCGTGAGTGTCGTGGCTGTGT	0.602000													4	14					0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27949151	27949151	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr9:27949151G>T	ENST00000379992.2	-	6	1968	c.1519C>A	c.(1519-1521)Cgt>Agt	p.R507S	LINGO2_ENST00000308675.3_Missense_Mutation_p.R507S	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	507			R -> H (in dbSNP:rs17506843).			integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TAAAGAAAACGATCTGAAGCG	0.463000													18	37					1.50039e-11	2.29747e-11	1	1	0
LMO3	55885	broad.mit.edu	37	12	16753644	16753644	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr12:16753644C>A	ENST00000320122.6	-	2	673	c.151G>T	c.(151-153)Ggc>Tgc	p.G51C	LMO3_ENST00000541295.1_Missense_Mutation_p.G69C|LMO3_ENST00000537568.1_Intron|LMO3_ENST00000540848.1_Missense_Mutation_p.G51C|LMO3_ENST00000261169.6_Missense_Mutation_p.G62C|LMO3_ENST00000354662.1_Missense_Mutation_p.G51C|LMO3_ENST00000540445.1_Intron|LMO3_ENST00000535535.1_Missense_Mutation_p.G51C|LMO3_ENST00000537304.1_Missense_Mutation_p.G51C|LMO3_ENST00000447609.1_Missense_Mutation_p.G51C|LMO3_ENST00000541846.1_Missense_Mutation_p.G51C|LMO3_ENST00000441439.2_Missense_Mutation_p.G51C|LMO3_ENST00000534946.1_Missense_Mutation_p.G51C	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)	51	LIM zinc-binding 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				AGGGTGGAGCCCACCTCTCCC	0.483000													12	53					1.49906e-05	1.79521e-05	1	1	0
PTCH1	5727	broad.mit.edu	37	9	98241428	98241428	+	Splice_Site	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr9:98241428C>A	ENST00000430669.2	-	8	1456	c.869_splice	c.e8-1	p.A291_splice	PTCH1_ENST00000437951.1_Splice_Site_p.A291_splice|PTCH1_ENST00000331920.6_Splice_Site_p.A357_splice|PTCH1_ENST00000418258.1_Splice_Site_p.A206_splice|PTCH1_ENST00000421141.1_Splice_Site_p.A206_splice|PTCH1_ENST00000429896.2_Splice_Site_p.A206_splice|PTCH1_ENST00000375274.2_Splice_Site_p.A356_splice			Q13635	PTC1_HUMAN	patched 1	357					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AGGGCATGGGCGCTGCAGCAC	0.537000													12	56					3.45872e-05	4.0756e-05	1	1	0
FHL5	9457	broad.mit.edu	37	6	97052641	97052641	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr6:97052641G>T	ENST00000326771.2	+	4	555	c.175G>T	c.(175-177)Gac>Tac	p.D59Y	FHL5_ENST00000541107.1_Missense_Mutation_p.D59Y	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	59	LIM zinc-binding 1.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TTGTTACAAAGACCGGCACTG	0.433000													10	27					3.07112e-06	3.76212e-06	1	1	0
ITGAX	3687	broad.mit.edu	37	16	31384596	31384596	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr16:31384596A>T	ENST00000268296.4	+	20	2514	c.2393A>T	c.(2392-2394)aAc>aTc	p.N798I	ITGAX_ENST00000562522.1_Missense_Mutation_p.N798I	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	798					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GTGGGGAGTAACCTGGAGCTG	0.537000													23	70					0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102706916	102706916	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:102706916C>G	ENST00000299855.5	-	10	1631	c.1375G>C	c.(1375-1377)Gac>Cac	p.D459H	WTAPP1_ENST00000525739.2_RNA	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	459	Hemopexin-like 4.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	GCATTTGGGTCAAACTCCAAC	0.343000													4	97					0	0	1	0	0
MT1M	4499	broad.mit.edu	37	16	56667691	56667691	+	Nonsense_Mutation	SNP	T	T	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr16:56667691T>A	ENST00000379818.3	+	3	622	c.123T>A	c.(121-123)tgT>tgA	p.C41*		NM_176870.2	NP_789846.1	Q8N339	MT1M_HUMAN	metallothionein 1M	41	Alpha.						metal ion binding			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5						CCGTGGGCTGTGCCAAGTGTG	0.597000													70	57					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579763	55579763	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:55579763C>A	ENST00000333973.2	+	1	910	c.821C>A	c.(820-822)gCc>gAc	p.A274D		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GACAAAGTGGCCACCGTGTTC	0.473000													23	36					3.85864e-22	7.04621e-22	1	1	0
RAD21	5885	broad.mit.edu	37	8	117874087	117874087	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr8:117874087C>A	ENST00000297338.2	-	4	654	c.367G>T	c.(367-369)Gac>Tac	p.D123Y	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	123					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TACTCTAAGTCAGGCAGTGGC	0.368000													50	69					3.53049e-34	6.87393e-34	1	1	0
PSD2	84249	broad.mit.edu	37	5	139218323	139218323	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr5:139218323C>A	ENST00000274710.3	+	13	2139	c.1934C>A	c.(1933-1935)cCc>cAc	p.P645H		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	645					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTGTCGGCCCCTGCTGCCC	0.622000													14	23					1.01871e-10	1.51263e-10	1	1	0
MTMR6	9107	broad.mit.edu	37	13	25826072	25826072	+	Missense_Mutation	SNP	T	T	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr13:25826072T>G	ENST00000381801.5	-	12	2158	c.1397A>C	c.(1396-1398)aAg>aCg	p.K466T	MTMR6_ENST00000540661.1_Missense_Mutation_p.K466T	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	466	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TAAGTACTTCTTTTGGTCTTC	0.348000													59	60					0	0	1	0	0
BST2	684	broad.mit.edu	37	19	17514602	17514602	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:17514602C>A	ENST00000252593.6	-	4	517	c.445G>T	c.(445-447)Gcg>Tcg	p.A149S	BST2_ENST00000527220.1_5'UTR	NM_004335.2	NP_004326.1	Q10589	BST2_HUMAN	bone marrow stromal cell antigen 2	149					B cell activation|cell proliferation|cell-cell signaling|defense response to virus|humoral immune response|innate immune response|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade	anchored to membrane|Golgi apparatus|integral to plasma membrane|late endosome	protein homodimerization activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(2)	9						TTCTTGTCCGCGATTCTCACG	0.612000													24	33					0.000375601	0.000420673	1	1	0
OXCT1	5019	broad.mit.edu	37	5	41853623	41853623	+	Silent	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr5:41853623C>A	ENST00000196371.5	-	4	472	c.312G>T	c.(310-312)cgG>cgT	p.R104R		NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	104					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	TCTGCTTGGACCGAAGCAAAA	0.408000													5	51					0.184627	0.188474	1	1	0
UACA	55075	broad.mit.edu	37	15	70980144	70980144	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr15:70980144G>A	ENST00000322954.6	-	6	625	c.440C>T	c.(439-441)cCt>cTt	p.P147L	UACA_ENST00000539319.1_Missense_Mutation_p.P147L|UACA_ENST00000379983.2_Missense_Mutation_p.P134L|UACA_ENST00000560441.1_Missense_Mutation_p.P134L	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	147						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TATGCTAGAAGGACAATCTGC	0.363000													11	20					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108380255	108380255	+	Silent	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr10:108380255C>T	ENST00000263054.6	-	20	2734	c.2727G>A	c.(2725-2727)gcG>gcA	p.A909A	SORCS1_ENST00000369698.1_Silent_p.A444A|SORCS1_ENST00000344440.6_Silent_p.A909A	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	909						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GCACTGCCGTCGCATTGACCT	0.562000													20	88					0	0	1	0	0
OR2T27	403239	broad.mit.edu	37	1	248814116	248814116	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:248814116G>A	ENST00000344889.3	-	1	69	c.70C>T	c.(70-72)Ccc>Tcc	p.P24S		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P24S(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGAAGCCAGGGGAAACGGGCG	0.493000													14	69					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155287395	155287395	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr4:155287395C>T	ENST00000357232.3	-	5	660	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	DCHS2_ENST00000339452.1_Missense_Mutation_p.V815M	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	221	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGGGACGACACGTTTCCTGGA	0.458000													5	21					0	0	1	0	0
MAP1LC3C	440738	broad.mit.edu	37	1	242159682	242159682	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:242159682C>A	ENST00000357246.3	-	4	291	c.227G>T	c.(226-228)cGc>cTc	p.R76L		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	76					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CAGGACCATGCGGCTCCTGGG	0.562000													7	24					0.248553	0.252416	1	1	0
TRADD	8717	broad.mit.edu	37	16	67188856	67188856	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr16:67188856C>G	ENST00000345057.4	-	5	1103	c.635G>C	c.(634-636)cGg>cCg	p.R212P	TRADD_ENST00000486556.1_Missense_Mutation_p.R152P	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	212	Death.				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GCTCAGCGGCCGATTCACTGC	0.706000													6	18					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1263424	1263424	+	Silent	SNP	T	T	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:1263424T>C	ENST00000447027.1	+	31	5381	c.5323T>C	c.(5323-5325)Ttg>Ctg	p.L1775L	MUC5B_ENST00000529681.1_Silent_p.L1772L			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1772	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AATGAGCCCCTTGACTAACAC	0.622000													26	33					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119737613	119737613	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr9:119737613C>A	ENST00000313400.4	-	10	1863	c.1763G>T	c.(1762-1764)aGc>aTc	p.S588I	ASTN2_ENST00000373996.3_Splice_Site|ASTN2_ENST00000361209.2_Missense_Mutation_p.S537I|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	588						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TTGGCCCAAGCTGAAAGTAGA	0.557000													13	17					2.31682e-05	2.73553e-05	1	1	0
STON2	85439	broad.mit.edu	37	14	81744475	81744475	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr14:81744475C>A	ENST00000555447.1	-	6	1592	c.1180G>T	c.(1180-1182)Gat>Tat	p.D394Y	STON2_ENST00000267540.2_Missense_Mutation_p.D394Y	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	394					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CCAAAGTGATCAGGGTCATCA	0.488000													9	36					0.000442599	0.000492895	1	1	0
GNAS	2778	broad.mit.edu	37	20	57480483	57480483	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr20:57480483C>T	ENST00000371100.4	+	6	2959	c.2407C>T	c.(2407-2409)Cgt>Tgt	p.R803C	GNAS_ENST00000265620.7_Missense_Mutation_p.R145C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371085.3_Missense_Mutation_p.R160C|GNAS_ENST00000306090.10_Missense_Mutation_p.R146C|GNAS_ENST00000371095.3_Missense_Mutation_p.R146C|GNAS_ENST00000371102.4_Missense_Mutation_p.R789C|GNAS_ENST00000354359.7_Missense_Mutation_p.R161C|GNAS_ENST00000313949.7_3'UTR	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	160					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TGAAGGAGTGCGTGCCTGCTA	0.468000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			6	117					0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78063594	78063594	+	Nonsense_Mutation	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr17:78063594C>T	ENST00000397545.4	+	17	2770	c.2743C>T	c.(2743-2745)Caa>Taa	p.Q915*	CCDC40_ENST00000374877.3_Nonsense_Mutation_p.Q915*|CCDC40_ENST00000573903.1_3'UTR	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	915					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GAAAAAAATCCAACTGGCAAA	0.502000													14	53					0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23328697	23328697	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:23328697A>G	ENST00000597761.2	+	4	1050	c.851A>G	c.(850-852)tAt>tGt	p.Y284C		NM_001277403.1	NP_001264332.1			zinc finger protein 730											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						GAGAAACCCTATAAATGTGAA	0.348000													4	33					0	0	1	0	0
MARCH4	57574	broad.mit.edu	37	2	217142435	217142435	+	Silent	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:217142435G>T	ENST00000273067.4	-	3	2591	c.825C>A	c.(823-825)atC>atA	p.I275I		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	275						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		TCCCGTAGCAGATCTGGAAGA	0.562000													38	135					1.96642e-18	3.4515e-18	1	1	0
KIF1A	547	broad.mit.edu	37	2	241666337	241666337	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:241666337G>T	ENST00000498729.2	-	39	4274	c.4028C>A	c.(4027-4029)gCt>gAt	p.A1343D	KIF1A_ENST00000320389.7_Missense_Mutation_p.A1242D	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1242					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GTCCCACGCAGCCTCAAATTG	0.532000													6	6					0.00116845	0.00127231	1	1	0
SCN2B	6327	broad.mit.edu	37	11	118037795	118037795	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:118037795G>T	ENST00000278947.5	-	4	696	c.455C>A	c.(454-456)cCt>cAt	p.P152H		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	152	Ig-like C2-type.				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		GTCCCGCTCAGGGGGCTCTGG	0.632000													17	13					2.89027e-11	4.35763e-11	1	1	0
CDYL	9425	broad.mit.edu	37	6	4735027	4735027	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr6:4735027C>A	ENST00000328908.5	+	3	266	c.135C>A	c.(133-135)agC>agA	p.S45R				Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	45					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CAGACCCCAGCATCTCCGTGA	0.557000													19	48					2.89027e-11	4.35763e-11	1	1	0
LOC100130331	100130331	broad.mit.edu	37	1	238090543	238090543	+	RNA	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:238090543C>A	ENST00000450451.1	+	0	2049					NR_027247.2																						CCATCCAGCCCGTGCTATCCC	0.587000													13	40					8.60227e-14	1.382e-13	1	1	0
TTLL7	79739	broad.mit.edu	37	1	84373287	84373287	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:84373287C>A	ENST00000260505.8	-	16	2221	c.1844G>T	c.(1843-1845)aGt>aTt	p.S615I	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	615					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GGTGTCCCCACTGGAAGGTGA	0.493000													16	24					0.000132079	0.000152279	1	1	0
ATP6V0A4	50617	broad.mit.edu	37	7	138406718	138406718	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:138406718C>A	ENST00000310018.2	-	19	2345	c.2063G>T	c.(2062-2064)aGc>aTc	p.S688I	ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.S688I|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.S688I	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	688					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGGGCTGGAGCTATCACCTTC	0.552000													16	28					1.99824e-07	2.59374e-07	1	1	0
FAP	2191	broad.mit.edu	37	2	163074507	163074507	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:163074507G>C	ENST00000188790.4	-	9	958	c.751C>G	c.(751-753)Cca>Gca	p.P251A	FAP_ENST00000443424.1_Missense_Mutation_p.P226A	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	251					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TTTGGGTATGGAATATTTATT	0.343000													10	85					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2596792	2596792	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr20:2596792G>T	ENST00000358864.1	+	15	1897	c.1882G>T	c.(1882-1884)Gct>Tct	p.A628S	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	628						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GCCTTCATATGCTGAGTTTGA	0.458000													9	61					2.74318e-10	4.05274e-10	1	1	0
MUC16	94025	broad.mit.edu	37	19	9091524	9091524	+	Silent	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:9091524G>A	ENST00000397910.4	-	1	494	c.291C>T	c.(289-291)tcC>tcT	p.S97S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	97	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCTTTGCTCGGAGTGTGTCA	0.537000													18	105					0	0	1	0	0
RIPPLY1	92129	broad.mit.edu	37	X	106144008	106144008	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chrX:106144008C>A	ENST00000276173.4	-	4	456	c.427G>T	c.(427-429)Gaa>Taa	p.E143*	RIPPLY1_ENST00000411805.1_Nonsense_Mutation_p.E96*|CLDN2_ENST00000541806.1_Intron	NM_138382.2	NP_612391.1	Q0D2K3	RIPP1_HUMAN	ripply transcriptional repressor 1	143	Poly-Glu.				negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent	nucleus				lung(1)|urinary_tract(1)	2						tcctgctcttcatcttcctct	0.512000													3	18					0.115264	0.118075	1	1	0
BMS1	9790	broad.mit.edu	37	10	43279882	43279882	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr10:43279882A>T	ENST00000374518.4	+	2	103	c.40A>T	c.(40-42)Agt>Tgt	p.S14C		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	14					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AAAGAAAAACAGTGGACCCAA	0.453000													20	27					0	0	1	0	0
CAMK2N1	55450	broad.mit.edu	37	1	20811778	20811778	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:20811778G>T	ENST00000375078.3	-	1	935	c.95C>A	c.(94-96)aCc>aAc	p.T32N		NM_018584.5	NP_061054.2	Q7Z7J9	CK2N1_HUMAN	calcium/calmodulin-dependent protein kinase II inhibitor 1	32						cell junction|postsynaptic density|postsynaptic membrane|synaptosome				lung(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.0013)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.00116)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		GAAGTTGTTGGTGTCCTGCAG	0.687000													5	7					0.27861	0.282453	1	1	0
MS4A14	84689	broad.mit.edu	37	11	60182930	60182930	+	Silent	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:60182930G>T	ENST00000300187.6	+	5	766	c.489G>T	c.(487-489)tcG>tcT	p.S163S	MS4A14_ENST00000395005.2_Silent_p.S146S|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531783.1_Silent_p.S196S|MS4A14_ENST00000531787.1_Silent_p.S51S	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	163						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TCTTGCCTTCGGATGTTACTC	0.328000													19	36					2.89027e-11	4.35763e-11	1	1	0
C1QC	714	broad.mit.edu	37	1	22974075	22974075	+	Silent	SNP	C	C	T	rs150732699		TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:22974075C>T	ENST00000374639.3	+	3	655	c.537C>T	c.(535-537)tgC>tgT	p.C179C	C1QC_ENST00000374637.1_Silent_p.C179C|C1QC_ENST00000374640.4_Silent_p.C179C	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	179	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	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)	CCAACCTGTGCGTGCTGCTGT	0.582000													6	73					0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25466178	25466178	+	Splice_Site	SNP	T	T	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr6:25466178T>G	ENST00000329474.6	+	9	1058		c.e9+2		LRRC16A_ENST00000377969.3_Splice_Site	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A						actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CTAAAACTGGTAAGTAATCAA	0.358000													32	53					0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200880740	200880740	+	Silent	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:200880740C>T	ENST00000367342.4	+	9	1574	c.1374C>T	c.(1372-1374)ggC>ggT	p.G458G	C1orf106_ENST00000413687.2_Silent_p.G373G	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	458										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						AAGACAGTGGCTCTGACGTCT	0.652000													94	75					0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74671501	74671501	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr10:74671501G>A	ENST00000334011.5	+	5	912	c.694G>A	c.(694-696)Ggt>Agt	p.G232S		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	232						nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					CAATAACAATGGTGGCTGCAG	0.502000													21	63					0	0	1	0	0
PCNXL4	64430	broad.mit.edu	37	14	60574939	60574939	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr14:60574939A>G	ENST00000406854.1	+	2	1137	c.583A>G	c.(583-585)Aca>Gca	p.T195A	PCNXL4_ENST00000404681.2_Missense_Mutation_p.T195A|PCNXL4_ENST00000391611.2_Missense_Mutation_p.T195A|PCNXL4_ENST00000317623.4_Intron|PCNXL4_ENST00000406949.1_Intron					pecanex-like 4 (Drosophila)																		AATTGTAAACACAGCTACAGA	0.368000													15	49					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192822	132192822	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:132192822C>T	ENST00000359827.3	-	2	1593	c.631G>A	c.(631-633)Gat>Aat	p.D211N	PLXNA4_ENST00000321063.4_Missense_Mutation_p.D211N|PLXNA4_ENST00000378539.5_Missense_Mutation_p.D211N|PLXNA4_ENST00000423507.2_Missense_Mutation_p.D211N			Q9HCM2	PLXA4_HUMAN	plexin A4	211	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AACATGCCATCCGCCTCAGAG	0.512000													31	90					0	0	1	0	0
PNMA3	29944	broad.mit.edu	37	X	152225685	152225685	+	Silent	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chrX:152225685G>T	ENST00000447306.1	+	2	609	c.273G>T	c.(271-273)gtG>gtT	p.V91V	PNMA3_ENST00000370264.4_Silent_p.V91V|PNMA3_ENST00000370265.4_Silent_p.V91V	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	91					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					cctgggaagtgattgtaaaac	0.537000													35	11					2.2871e-25	4.26924e-25	1	1	0
CAMK4	814	broad.mit.edu	37	5	110679794	110679794	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr5:110679794G>T	ENST00000282356.4	+	2	632	c.234G>T	c.(232-234)aaG>aaT	p.K78N	CAMK4_ENST00000512453.1_Missense_Mutation_p.K78N	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	78	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		AAGTGTTAAAGAAAACAGTAA	0.438000													6	19					2.0095e-06	2.48232e-06	1	1	0
TMPRSS15	5651	broad.mit.edu	37	21	19732101	19732101	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr21:19732101C>A	ENST00000284885.3	-	8	886	c.853G>T	c.(853-855)Ggt>Tgt	p.G285C		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	285	CUB 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GATCCTACACCTTCATAAATA	0.259000													11	28					1.08611e-07	1.42552e-07	1	1	0
WBSCR17	64409	broad.mit.edu	37	7	70885934	70885934	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:70885934C>A	ENST00000333538.5	+	5	1439	c.805C>A	c.(805-807)Cgt>Agt	p.R269S	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	269						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AAACCGGAAGCGTGTGATCCT	0.542000													134	162					1.45191e-84	2.9237e-84	1	1	0
OR5B12	390191	broad.mit.edu	37	11	58207410	58207410	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:58207410G>A	ENST00000302572.2	-	1	236	c.215C>T	c.(214-216)tCc>tTc	p.S72F		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GACAGCTGAGGAATAACCAAA	0.458000													12	27					0	0	1	0	0
NCKAP1	10787	broad.mit.edu	37	2	183853815	183853815	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:183853815C>A	ENST00000360982.2	-	10	1666	c.908G>T	c.(907-909)cGg>cTg	p.R303L	NCKAP1_ENST00000361354.3_Missense_Mutation_p.R297L	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	297					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AACTTCATCCCGAAAGAGAGA	0.408000													12	13					1.3612e-06	1.70295e-06	1	1	0
DNAH2	146754	broad.mit.edu	37	17	7646377	7646377	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr17:7646377C>A	ENST00000572933.1	+	12	3281	c.1821C>A	c.(1819-1821)gaC>gaA	p.D607E	DNAH2_ENST00000570791.1_Missense_Mutation_p.D689E|DNAH2_ENST00000389173.2_Missense_Mutation_p.D607E|DNAH2_ENST00000082259.3_Missense_Mutation_p.D689E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	607	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAAGTCTGGACAAGGATTGCA	0.527000													14	49					9.16793e-09	1.29274e-08	1	1	0
SLC8B1	80024	broad.mit.edu	37	12	113745551	113745551	+	Silent	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr12:113745551C>A	ENST00000552014.1	-	14	1871	c.1356G>T	c.(1354-1356)cgG>cgT	p.R452R	SLC24A6_ENST00000546737.1_Silent_p.R396R|SLC24A6_ENST00000550047.1_5'UTR|SLC24A6_ENST00000202831.3_Silent_p.R452R			Q6J4K2	NCKX6_HUMAN		452					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						TGTTGCTCAGCCGGAAGACCA	0.637000													24	28					1.77063e-15	2.94938e-15	1	1	0
CBL	867	broad.mit.edu	37	11	119148982	119148982	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:119148982G>T	ENST00000264033.4	+	8	1578	c.1202G>T	c.(1201-1203)tGc>tTc	p.C401F		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	401	Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.E366_Q409del(13)|p.C401Y(2)|p.E366_K477del(1)|p.C401S(1)|p.G397_I429del(1)|p.E369_Q409del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CACCTCATGTGCACATCCTGT	0.388000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				39	61					2.52991e-16	4.26242e-16	1	1	0
PLEKHG4B	153478	broad.mit.edu	37	5	143307	143307	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr5:143307G>T	ENST00000283426.6	+	2	605	c.555G>T	c.(553-555)caG>caT	p.Q185H		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	185					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TCCCCAGCCAGGTGCCCAAGC	0.672000													30	25					1.88708e-17	3.24446e-17	1	1	0
RHPN2	85415	broad.mit.edu	37	19	33490580	33490580	+	Silent	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:33490580C>T	ENST00000254260.3	-	10	1172	c.1137G>A	c.(1135-1137)gaG>gaA	p.E379E	RHPN2_ENST00000400226.4_Silent_p.E228E	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	379	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					ACAGGCACTTCTCCTGGTGGT	0.582000													6	58					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18289663	18289663	+	Silent	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr10:18289663C>A	ENST00000377369.2	+	11	1941	c.1668C>A	c.(1666-1668)ggC>ggA	p.G556G	SLC39A12_ENST00000377371.3_Silent_p.G555G|SLC39A12_ENST00000377374.4_Silent_p.G519G|SLC39A12_ENST00000539911.1_Silent_p.G422G	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	556					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TTGCAGATGGCCTAGCCATAG	0.433000													56	37					7.50695e-29	1.42851e-28	1	1	0
MEOX2	4223	broad.mit.edu	37	7	15725928	15725928	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:15725928C>A	ENST00000262041.5	-	1	509	c.100G>T	c.(100-102)Gac>Tac	p.D34Y		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	34					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		GACATATGGTCAGATCTTCCA	0.577000													12	20					0.000151284	0.000173741	1	1	0
GPR128	84873	broad.mit.edu	37	3	100365486	100365486	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr3:100365486C>T	ENST00000273352.3	+	10	1452	c.1184C>T	c.(1183-1185)aCa>aTa	p.T395I	GPR128_ENST00000475887.1_Missense_Mutation_p.T100I	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	395	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GACTGGGACACATATGGCTGT	0.388000													20	16					0	0	1	0	0
TMEM71	137835	broad.mit.edu	37	8	133740100	133740100	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr8:133740100A>G	ENST00000356838.3	-	6	705	c.563T>C	c.(562-564)cTt>cCt	p.L188P	TMEM71_ENST00000377901.4_Intron|TMEM71_ENST00000523829.1_Missense_Mutation_p.L207P	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	207						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CTGGGACTGAAGAGACAAGCT	0.463000													46	87					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9017345	9017345	+	Splice_Site	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:9017345C>T	ENST00000397910.4	-	26	38182		c.e26+1			NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated						cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGCTGCTCACCATTGACATA	0.552000													46	103					0	0	1	0	0
ZNF100	163227	broad.mit.edu	37	19	21910147	21910147	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:21910147C>A	ENST00000358296.6	-	5	1165	c.967G>T	c.(967-969)Ggc>Tgc	p.G323C	ZNF100_ENST00000305570.6_Missense_Mutation_p.G259C	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						AAAGCTTTGCCACATTCTGTA	0.403000													34	68					7.63091e-17	1.30057e-16	1	1	0
COL5A1	1289	broad.mit.edu	37	9	137645731	137645731	+	Silent	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr9:137645731G>T	ENST00000371817.3	+	15	2169	c.1755G>T	c.(1753-1755)ccG>ccT	p.P585P		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	585	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGGCGAGCCGGGAGACGTGG	0.652000													18	34					1.64113e-05	1.96136e-05	1	1	0
PAK7	57144	broad.mit.edu	37	20	9538263	9538263	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr20:9538263C>T	ENST00000378429.3	-	8	2281	c.1735G>A	c.(1735-1737)Gat>Aat	p.D579N	PAK7_ENST00000378423.1_Missense_Mutation_p.D579N|PAK7_ENST00000353224.5_Missense_Mutation_p.D579N	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	579	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ACCCGGCCATCGCTTGTCAGG	0.443000													17	72					0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156846278	156846278	+	Silent	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:156846278G>T	ENST00000368196.3	+	13	1821	c.1701G>T	c.(1699-1701)gtG>gtT	p.V567V	NTRK1_ENST00000392302.2_Silent_p.V537V|NTRK1_ENST00000524377.1_Silent_p.V573V|NTRK1_ENST00000358660.3_Silent_p.V570V	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	573	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	AGCACATCGTGCGCTTCTTCG	0.642000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			15	14					2.23348e-06	2.75323e-06	1	1	0
ZNF347	84671	broad.mit.edu	37	19	53644353	53644353	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:53644353C>A	ENST00000452676.2	-	5	2157	c.1731G>T	c.(1729-1731)aaG>aaT	p.K577N	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.K577N|ZNF347_ENST00000334197.7_Missense_Mutation_p.K576N	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GAGTGAAGACCTTGCCACACT	0.413000													36	134					5.43694e-19	9.62927e-19	1	1	0
KCNU1	157855	broad.mit.edu	37	8	36793211	36793211	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr8:36793211C>G	ENST00000399881.3	+	27	3260	c.3223C>G	c.(3223-3225)Cct>Gct	p.P1075A		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1075						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CACAAATTGTCCTCCCACCAT	0.373000													13	44					0	0	1	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68797728	68797728	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr4:68797728G>T	ENST00000508048.1	-	4	335	c.300C>A	c.(298-300)aaC>aaA	p.N100K	RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.N104K|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.N101K			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	104	SEA.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TGACTACTTGGTTCTTGATAT	0.353000													4	35					2.0095e-06	2.48232e-06	1	1	0
ZNF679	168417	broad.mit.edu	37	7	63726427	63726427	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:63726427G>T	ENST00000421025.1	+	5	685	c.416G>T	c.(415-417)gGa>gTa	p.G139V	ZNF679_ENST00000255746.4_Missense_Mutation_p.G139V	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						GTGCAAAAAGGAGGTTGTAAT	0.333000													6	17					4.096e-09	5.84575e-09	1	1	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													6	94					0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587132	42587132	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr8:42587132G>T	ENST00000289957.2	+	5	810	c.682G>T	c.(682-684)Gtc>Ttc	p.V228F		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	228					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GTATTCCTTCGTCCTGAGACG	0.478000													28	19					1.32003e-05	1.58404e-05	1	1	0
OR5F1	338674	broad.mit.edu	37	11	55761239	55761239	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:55761239A>G	ENST00000278409.1	-	1	862	c.863T>C	c.(862-864)cTg>cCg	p.L288P		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GCTGTAGATCAGAGGATTCAA	0.428000													7	39					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56094734	56094734	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr12:56094734G>A	ENST00000257880.7	-	4	838	c.619C>T	c.(619-621)Cct>Tct	p.P207S	ITGA7_ENST00000452168.2_Missense_Mutation_p.P110S|ITGA7_ENST00000553804.1_Missense_Mutation_p.P207S|ITGA7_ENST00000394229.2_Missense_Mutation_p.P207S|ITGA7_ENST00000394230.2_Missense_Mutation_p.P207S|ITGA7_ENST00000347027.6_Missense_Mutation_p.P207S|ITGA7_ENST00000257879.6_Missense_Mutation_p.P207S|ITGA7_ENST00000555728.1_Missense_Mutation_p.P207S			Q13683	ITA7_HUMAN	integrin, alpha 7	207					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TGGCTATCAGGGGAGAAGGCG	0.572000													11	14					0	0	1	0	0
PHF23	79142	broad.mit.edu	37	17	7139797	7139797	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr17:7139797G>C	ENST00000320316.3	-	4	675	c.449C>G	c.(448-450)tCc>tGc	p.S150C	PHF23_ENST00000454255.2_Missense_Mutation_p.S146C|PHF23_ENST00000576955.1_Missense_Mutation_p.S20C|PHF23_ENST00000571362.1_Missense_Mutation_p.S83C	NM_024297.2	NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	150							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GGATGTGGGGGACAAAGGAGA	0.592000													8	27					0	0	1	0	0
DCT	1638	broad.mit.edu	37	13	95121220	95121220	+	Silent	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr13:95121220C>A	ENST00000377028.5	-	2	788	c.375G>T	c.(373-375)gtG>gtT	p.V125V	DCT_ENST00000446125.1_Silent_p.V125V	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	125					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TCTGCCGAATCACTGGTGGTT	0.502000													74	91					2.77303e-49	5.47161e-49	1	1	0
CALB1	793	broad.mit.edu	37	8	91081419	91081419	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr8:91081419C>T	ENST00000265431.3	-	4	459	c.278G>A	c.(277-279)cGa>cAa	p.R93Q	CALB1_ENST00000518457.1_Missense_Mutation_p.R36Q	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	93						nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CTGCTGGCATCGGAAGAGCAG	0.398000													9	46					0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133174748	133174748	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:133174748C>T	ENST00000329321.3	+	1	602	c.133C>T	c.(133-135)Ctt>Ttt	p.L45F		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	45						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CGTGATGGGCCTTCTGGGGAA	0.522000													13	41					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768367	31768367	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:31768367C>T	ENST00000240587.4	-	2	2659	c.2332G>A	c.(2332-2334)Gac>Aac	p.D778N		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	778					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AAATAGCGGTCGAGGTGGTCT	0.572000													7	34					0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54963089	54963089	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr12:54963089G>T	ENST00000243052.3	+	4	785	c.349G>T	c.(349-351)Gag>Tag	p.E117*	PDE1B_ENST00000538346.1_Nonsense_Mutation_p.E76*|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Nonsense_Mutation_p.E97*	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	117					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						CCGCCGAGCAGAGGAGAAGCC	0.657000													9	35					0.000442599	0.000492895	1	1	0
RIT2	6014	broad.mit.edu	37	18	40695453	40695453	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr18:40695453G>T	ENST00000589109.1	-	1	203	c.32C>A	c.(31-33)cCg>cAg	p.P11Q	RIT2_ENST00000282028.4_Missense_Mutation_p.P11Q|RIT2_ENST00000590910.1_Missense_Mutation_p.P11Q|RIT2_ENST00000326695.5_Missense_Mutation_p.P11Q	NM_001272077.1	NP_001259006.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	11					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGCGCTGCCCGGGGAGCAGCT	0.532000													23	36					1.17739e-12	1.83636e-12	1	1	0
PLTP	5360	broad.mit.edu	37	20	44540099	44540099	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr20:44540099G>T	ENST00000542937.1	-	1	587	c.53C>A	c.(52-54)cCg>cAg	p.P18Q	PLTP_ENST00000420868.2_5'UTR|PLTP_ENST00000372431.3_5'UTR|PLTP_ENST00000477313.1_5'UTR|PLTP_ENST00000354050.4_5'UTR			P55058	PLTP_HUMAN	phospholipid transfer protein	0				E -> V (in Ref. 7; AAH19847/AAH19898).	cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CATGGCGAGCGGGCCTGGGGG	0.627000													5	34					0.014758	0.0155794	1	1	0
TMEM132D	121256	broad.mit.edu	37	12	129563149	129563149	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr12:129563149A>T	ENST00000422113.2	-	8	2371	c.2045T>A	c.(2044-2046)cTc>cAc	p.L682H	TMEM132D_ENST00000389441.4_Missense_Mutation_p.L220H	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	682						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCCTGGGCTGAGCTGCAAGGA	0.567000													32	24					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7708784	7708784	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr10:7708784C>A	ENST00000256861.6	-	1	150	c.72G>T	c.(70-72)tgG>tgT	p.W24C	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.W24C|ITIH5_ENST00000397146.2_Missense_Mutation_p.W24C	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	24					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						AAGAGTGGCCCCAGCTCTGCG	0.766000													27	15					4.3181e-19	7.69407e-19	1	1	0
UGT2B15	7366	broad.mit.edu	37	4	69533895	69533895	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr4:69533895T>A	ENST00000338206.5	-	2	745	c.736A>T	c.(736-738)Aca>Tca	p.T246S		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	246					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TCAAATAATGTAGTGGGTCTT	0.368000													24	33					0	0	1	0	0
CXorf66	347487	broad.mit.edu	37	X	139038483	139038483	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chrX:139038483G>T	ENST00000370540.1	-	3	681	c.658C>A	c.(658-660)Cat>Aat	p.H220N		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	220						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TTTTGTGGATGAGATGAATAA	0.438000													86	30					6.84326e-50	1.35483e-49	1	1	0
PADI3	51702	broad.mit.edu	37	1	17597416	17597416	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:17597416C>G	ENST00000375460.3	+	8	914	c.874C>G	c.(874-876)Cga>Gga	p.R292G		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	292					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGTGGTGTTCCGAGTGGCACC	0.622000													21	37					0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159520580	159520580	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr4:159520580C>T	ENST00000307765.5	+	4	640	c.389C>T	c.(388-390)gCa>gTa	p.A130V	RXFP1_ENST00000448688.2_Missense_Mutation_p.A49V|RXFP1_ENST00000470033.1_Missense_Mutation_p.A97V|RXFP1_ENST00000423548.1_Missense_Mutation_p.A130V|RXFP1_ENST00000343542.5_Missense_Mutation_p.A130V|RXFP1_ENST00000460056.2_Missense_Mutation_p.A49V	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	130						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.A130E(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AATGTGACTGCAATGTAAGTA	0.373000													4	17					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51095726	51095726	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:51095726G>A	ENST00000395542.2	-	12	3497	c.3313C>T	c.(3313-3315)Cct>Tct	p.P1105S	COBL_ENST00000265136.7_Missense_Mutation_p.P1023S			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1023										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GTGTGTGGAGGGGGTGGGTCT	0.632000													14	35					0	0	1	0	0
VPS41	27072	broad.mit.edu	37	7	38835164	38835164	+	Silent	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:38835164C>A	ENST00000310301.4	-	9	672	c.618G>T	c.(616-618)gtG>gtT	p.V206V	VPS41_ENST00000466017.1_5'UTR|VPS41_ENST00000395969.2_Silent_p.V181V	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	206					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CATCCCGGGGCACATTGGTGA	0.458000													35	70					7.93934e-33	1.5407e-32	1	1	0
FAM171A1	221061	broad.mit.edu	37	10	15255026	15255026	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr10:15255026C>A	ENST00000378116.4	-	8	2567	c.2561G>T	c.(2560-2562)aGa>aTa	p.R854I		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	854						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GTGGGCAGATCTTCTCTGGTG	0.612000													26	152					1.69901e-12	2.629e-12	1	1	0
BMP7	655	broad.mit.edu	37	20	55746136	55746136	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr20:55746136G>C	ENST00000395863.3	-	7	1680	c.1175C>G	c.(1174-1176)cCc>cGc	p.P392R	BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000395864.3_Missense_Mutation_p.P326R	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	392					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			GCAGGGCTTGGGCACCGTTTC	0.532000													38	40					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112524243	112524243	+	Splice_Site	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:112524243C>A	ENST00000369697.1	-	1	1175	c.1106_splice	c.e1+1	p.G369_splice	KCND3_ENST00000302127.4_Splice_Site_p.G369_splice|KCND3_ENST00000315987.2_Splice_Site_p.G369_splice			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	369						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GCTGACTTACCCCAGTGTGGT	0.557000													13	46					0.000566183	0.000628143	1	1	0
UBR5	51366	broad.mit.edu	37	8	103297392	103297392	+	Nonsense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr8:103297392G>A	ENST00000520539.1	-	40	6265	c.5659C>T	c.(5659-5661)Cga>Tga	p.R1887*	UBR5_ENST00000220959.4_Nonsense_Mutation_p.R1887*|UBR5_ENST00000521922.1_Nonsense_Mutation_p.R1881*	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1887					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GCTTCTTCTCGCGCAGTCATC	0.433000													8	70					0	0	1	0	0
COPS4	51138	broad.mit.edu	37	4	83996468	83996468	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr4:83996468C>T	ENST00000509093.1	+	9	1799	c.1021C>T	c.(1021-1023)Cgt>Tgt	p.R341C	COPS4_ENST00000264389.2_Missense_Mutation_p.T369M|COPS4_ENST00000511653.1_Silent_p.N418N|COPS4_ENST00000503682.1_Missense_Mutation_p.T401M	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	341	PCI.				cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				GCCCTGCCAACGTGGGATAAG	0.373000													13	30					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2890886	2890886	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr18:2890886C>A	ENST00000254528.3	+	4	920	c.761C>A	c.(760-762)aCt>aAt	p.T254N		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	254					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GTCTTCAACACTAAGGAATCT	0.498000													29	21					1.06801e-11	1.63966e-11	1	1	0
NYAP2	57624	broad.mit.edu	37	2	226446778	226446778	+	Silent	SNP	T	T	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:226446778T>C	ENST00000272907.6	+	4	1058	c.645T>C	c.(643-645)caT>caC	p.H215H	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	215																	TCAAAAAGCATGGGCCCCGGA	0.572000													8	126					0	0	1	0	0
GALP	85569	broad.mit.edu	37	19	56688566	56688566	+	Splice_Site	SNP	T	T	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:56688566T>C	ENST00000357330.2	+	2	169		c.e2+2		GALP_ENST00000440823.1_Splice_Site|GALP_ENST00000590002.1_Splice_Site	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide						neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		GCCCACCGGGTAACGCCTCCC	0.592000													4	19					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179642637	179642637	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:179642637G>T	ENST00000589042.1	-	25	4498	c.4274C>A	c.(4273-4275)gCa>gAa	p.A1425E	TTN_ENST00000591111.1_Missense_Mutation_p.A1425E|TTN_ENST00000342992.6_Missense_Mutation_p.A1425E|TTN_ENST00000359218.5_Missense_Mutation_p.A1379E|TTN_ENST00000342175.6_Missense_Mutation_p.A1379E|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A1379E|TTN_ENST00000360870.5_Missense_Mutation_p.A1425E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1425	ZIS5.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGACATCCTTGCAGGTGACAT	0.507000													17	33					2.4624e-09	3.56623e-09	1	1	0
FHDC1	85462	broad.mit.edu	37	4	153896290	153896290	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr4:153896290C>T	ENST00000511601.1	+	12	2035	c.1847C>T	c.(1846-1848)tCa>tTa	p.S616L	FHDC1_ENST00000260008.3_Missense_Mutation_p.S616L			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	616					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AACCCACCCTCAGCACAGGCG	0.657000													10	63					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103216019	103216019	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:103216019A>T	ENST00000428762.1	-	29	4438	c.4279T>A	c.(4279-4281)Tgt>Agt	p.C1427S	RELN_ENST00000343529.5_Missense_Mutation_p.C1427S|RELN_ENST00000424685.2_Missense_Mutation_p.C1427S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1427	EGF-like 3.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCACAGAAACACACTCCTGAA	0.433000													23	45					0	0	1	0	0
FTSJ1	24140	broad.mit.edu	37	X	48336506	48336506	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chrX:48336506G>T	ENST00000019019.2	+	3	500	c.71G>T	c.(70-72)cGc>cTc	p.R24L	FTSJ1_ENST00000396894.4_Intron|FTSJ1_ENST00000348411.2_Missense_Mutation_p.R24L|FTSJ1_ENST00000456787.1_Missense_Mutation_p.R24L	NM_177439.1	NP_803188.1	Q9UET6	RRMJ1_HUMAN	FtsJ RNA methyltransferase homolog 1 (E. coli)	24					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						TGGCGTGCTCGCAGCGCCTTC	0.582000													6	4					2.7689e-08	3.7863e-08	1	1	0
SLC1A6	6511	broad.mit.edu	37	19	15082612	15082612	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:15082612C>G	ENST00000598504.1	-	5	1639	c.280G>C	c.(280-282)Gag>Cag	p.E94Q	SLC1A6_ENST00000544886.2_Missense_Mutation_p.E94Q|SLC1A6_ENST00000600144.1_Missense_Mutation_p.E94Q|SLC1A6_ENST00000430939.2_Missense_Mutation_p.R98T|SLC1A6_ENST00000221742.3_Missense_Mutation_p.E94Q	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	94					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	ATCAGAAGCTCTCCAGGAAAA	0.572000													26	52					0	0	1	0	0
THTPA	79178	broad.mit.edu	37	14	24026245	24026245	+	Splice_Site	SNP	T	T	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr14:24026245T>C	ENST00000554970.1	+	2	365		c.e2+2		RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000554789.1_Silent_p.C93C|THTPA_ENST00000556015.1_Silent_p.C93C|THTPA_ENST00000404535.3_Silent_p.C93C|THTPA_ENST00000288014.6_Silent_p.C93C|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA			Q9BU02	THTPA_HUMAN	thiamine triphosphatase						dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	thiamin-triphosphatase activity			large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)	Thiamine(DB00152)	CCCAACTCTGTAAGGTGCTGC	0.582000													5	64					0	0	1	0	0
ETNPPL	64850	broad.mit.edu	37	4	109663733	109663733	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr4:109663733G>T	ENST00000296486.3	-	13	1561	c.1407C>A	c.(1405-1407)gaC>gaA	p.D469E	ETNPPL_ENST00000411864.2_Missense_Mutation_p.D463E|ETNPPL_ENST00000510706.1_Missense_Mutation_p.D429E|ETNPPL_ENST00000512646.1_Missense_Mutation_p.D411E	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		CAGTGGTGCTGTCCCTAAGCA	0.488000													8	47					0.000274275	0.000308954	1	1	0
SLC4A1AP	22950	broad.mit.edu	37	2	27907997	27907997	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:27907997G>A	ENST00000326019.6	+	10	2251	c.1969G>A	c.(1969-1971)Gaa>Aaa	p.E657K		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	657	Glu-rich.					cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					ggaagaggaagaagagaaaga	0.478000													8	11					0	0	1	0	0
LINS	55180	broad.mit.edu	37	15	101114206	101114206	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr15:101114206A>G	ENST00000314742.8	-	5	1094	c.872T>C	c.(871-873)aTt>aCt	p.I291T	LINS_ENST00000560133.1_Missense_Mutation_p.I172T|LINS_ENST00000561308.1_Missense_Mutation_p.I291T|LINS_ENST00000559149.1_5'UTR	NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	291										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						AAAAGCCTGAATAGGCCAGGT	0.423000													16	17					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162459355	162459355	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr4:162459355G>C	ENST00000306100.5	-	10	1711	c.1275C>G	c.(1273-1275)atC>atG	p.I425M	FSTL5_ENST00000379164.4_Missense_Mutation_p.I424M|FSTL5_ENST00000427802.2_Missense_Mutation_p.I424M|FSTL5_ENST00000536695.1_Missense_Mutation_p.I424M	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	425	Ig-like 2.					extracellular region	calcium ion binding			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)		AAAGAGAAGAGATGTCTTCAT	0.423000													24	93					0	0	1	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90535546	90535546	+	RNA	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr9:90535546C>A	ENST00000602681.1	+	0	1450																											TCCTCCCCTGCGGGACTCCAC	0.592000													49	132					9.53978e-28	1.80366e-27	1	1	0
CLIP2	7461	broad.mit.edu	37	7	73811523	73811523	+	Missense_Mutation	SNP	A	A	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:73811523A>C	ENST00000223398.6	+	14	3167	c.2840A>C	c.(2839-2841)aAg>aCg	p.K947T	CLIP2_ENST00000361545.5_Missense_Mutation_p.K912T|CLIP2_ENST00000395060.1_Missense_Mutation_p.K947T	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	947						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CAGAAACTCAAGGATGACATC	0.642000													18	81					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5463945	5463945	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr5:5463945G>T	ENST00000296564.7	+	13	4720	c.4498G>T	c.(4498-4500)Ggt>Tgt	p.G1500C		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1500										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTCAAGCAGTGGTCAGAGCAC	0.458000													3	50					0.00024832	0.000280793	1	1	0
WDR1	9948	broad.mit.edu	37	4	10078942	10078942	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr4:10078942C>A	ENST00000382452.2	-	14	1982	c.1700G>T	c.(1699-1701)aGa>aTa	p.R567I	WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000502702.1_Missense_Mutation_p.R427I|WDR1_ENST00000382451.2_Missense_Mutation_p.R427I|WDR1_ENST00000499869.2_Missense_Mutation_p.R567I	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	567					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		GATCTTGACTCTGGTTTCCGG	0.592000													4	31					0.0293803	0.0305223	1	1	0
PRLHR	2834	broad.mit.edu	37	10	120353836	120353836	+	Silent	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr10:120353836G>T	ENST00000239032.2	-	2	1059	c.921C>A	c.(919-921)gcC>gcA	p.A307A	PRLHR_ENST00000369169.1_Silent_p.A307A	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	307					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		AAGGGTCGATGGCGTGGGGGT	0.642000													11	47					2.27111e-07	2.94144e-07	1	1	0
PLCB1	23236	broad.mit.edu	37	20	8745828	8745828	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr20:8745828C>T	ENST00000378641.3	+	26	3228	c.2753C>T	c.(2752-2754)tCg>tTg	p.S918L	PLCB1_ENST00000338037.6_Missense_Mutation_p.S918L|PLCB1_ENST00000378637.2_Missense_Mutation_p.S918L|PLCB1_ENST00000494924.1_3'UTR	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	918					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CAACAGAAATCGTTTGTGAAA	0.398000													22	32					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113173805	113173805	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr9:113173805A>T	ENST00000401783.2	-	37	6522	c.6186T>A	c.(6184-6186)aaT>aaA	p.N2062K	SVEP1_ENST00000374469.1_Missense_Mutation_p.N2039K|SVEP1_ENST00000297826.5_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2062	Sushi 11.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGCCCTGGGCATTGCAGAGAA	0.502000													11	20					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	21392455	21392455	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:21392455G>T	ENST00000298925.5	+	16	1843	c.1690G>T	c.(1690-1692)Gtc>Ttc	p.V564F	NELL1_ENST00000325319.5_Missense_Mutation_p.V479F|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Missense_Mutation_p.V536F|NELL1_ENST00000357134.5_Missense_Mutation_p.V536F			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	536	EGF-like 5; calcium-binding (Potential).				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CAACAAATGTGTCTGTCCATC	0.418000													8	23					0.000673444	0.000740159	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228479795	228479795	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:228479795G>T	ENST00000570156.2	+	44	11897	c.11823G>T	c.(11821-11823)atG>atT	p.M3941I	OBSCN_ENST00000359599.6_Missense_Mutation_p.M2359I|OBSCN_ENST00000422127.1_Missense_Mutation_p.M3512I|OBSCN_ENST00000366707.4_Missense_Mutation_p.M631I|OBSCN_ENST00000366709.4_Missense_Mutation_p.M631I|OBSCN_ENST00000284548.11_Missense_Mutation_p.M3512I	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2979	Ig-like 40.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCTGGCCATGGCGGACGCCG	0.622000													27	91					5.90632e-09	8.36848e-09	1	1	0
SLC22A24	283238	broad.mit.edu	37	11	62911077	62911077	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:62911077C>G	ENST00000417740.1	-	1	616	c.175G>C	c.(175-177)Gtg>Ctg	p.V59L	SLC22A10_ENST00000525620.1_Intron|SLC22A24_ENST00000326192.5_Missense_Mutation_p.V59L	NM_001136506.2	NP_001129978.2			solute carrier family 22, member 24											kidney(1)|stomach(1)	2						TTGTCAGACACAGTGTCATTG	0.512000													11	17					0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183070793	183070793	+	Splice_Site	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:183070793C>A	ENST00000435564.1	-	8	1025		c.e8-1		PDE1A_ENST00000456212.1_Splice_Site|PDE1A_ENST00000358139.2_Splice_Site|PDE1A_ENST00000410103.1_Splice_Site|PDE1A_ENST00000409365.1_Splice_Site|PDE1A_ENST00000351439.5_Splice_Site|PDE1A_ENST00000331935.6_Splice_Site|PDE1A_ENST00000346717.4_Splice_Site|PDE1A_ENST00000536095.1_Splice_Site	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent						activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			AACATCTGACCTAAGAATTAA	0.363000													6	23					0.0215528	0.0224699	1	1	0
IGHA1	3493	broad.mit.edu	37	14	106174413	106174413	+	RNA	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr14:106174413G>A	ENST00000390547.2	-	0	375																											AGTGACAGTCGGGGGTGGCAG	0.612000													4	18					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	A	rs121912656		TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr17:7577547C>A	ENST00000420246.2	-	7	866	c.734G>T	c.(733-735)gGc>gTc	p.G245V	TP53_ENST00000269305.4_Missense_Mutation_p.G245V|TP53_ENST00000413465.2_Missense_Mutation_p.G245V|TP53_ENST00000445888.2_Missense_Mutation_p.G245V|TP53_ENST00000455263.2_Missense_Mutation_p.G245V|TP53_ENST00000359597.4_Missense_Mutation_p.G245V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCGGTTCATGCCGCCCATGCA	0.582000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	51					0.189662	0.193278	1	1	0
PPP1R3A	5506	broad.mit.edu	37	7	113519437	113519437	+	Silent	SNP	G	G	C	rs142416047		TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:113519437G>C	ENST00000284601.3	-	4	1778	c.1710C>G	c.(1708-1710)acC>acG	p.T570T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	570					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TGGGGATTGCGGTATGTTCGC	0.468000													29	92					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													4	55					0	0	1	0	0
TNFRSF25	8718	broad.mit.edu	37	1	6526149	6526149	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:6526149C>A	ENST00000377782.3	-	1	86	c.19G>T	c.(19-21)Ggc>Tgc	p.G7C	TNFRSF25_ENST00000461703.2_5'UTR|TNFRSF25_ENST00000356876.3_Missense_Mutation_p.G7C|TNFRSF25_ENST00000351959.5_Missense_Mutation_p.G7C|TNFRSF25_ENST00000348333.3_Missense_Mutation_p.G7C|TNFRSF25_ENST00000351748.3_Missense_Mutation_p.G7C	NM_148965.1	NP_683866.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	7					apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		GCCGCGCAGCCCCGCGGCCGC	0.746000													6	7					5.4927e-09	7.80123e-09	1	1	0
SLC22A1	6580	broad.mit.edu	37	6	160557608	160557608	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr6:160557608G>T	ENST00000366963.4	+	6	1134	c.987G>T	c.(985-987)aaG>aaT	p.K329N	SLC22A1_ENST00000324965.4_Missense_Mutation_p.K329N|SLC22A1_ENST00000457470.2_Missense_Mutation_p.K329N	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	329						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		TCACCGAAAAGCTGAGCCCTT	0.602000													33	60					1.41504e-22	2.60013e-22	1	1	0
PGBD2	267002	broad.mit.edu	37	1	249211545	249211545	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:249211545C>A	ENST00000355360.4	+	3	279	c.9C>A	c.(7-9)tgC>tgA	p.C3*	PGBD2_ENST00000539153.1_Nonsense_Mutation_p.C251*|PGBD2_ENST00000462488.1_3'UTR|PGBD2_ENST00000329291.5_Nonsense_Mutation_p.C254*	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	254										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGATGAACTGCAATTTCCAGA	0.473000													9	126					1.76689e-08	2.43881e-08	1	1	0
MMP26	56547	broad.mit.edu	37	11	5011057	5011057	+	Silent	SNP	G	G	A	rs149405690	byFrequency	TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:5011057G>A	ENST00000380390.1	+	3	495	c.279G>A	c.(277-279)tcG>tcA	p.S93S	MMP26_ENST00000477339.1_3'UTR|MMP26_ENST00000300762.1_Silent_p.S93S			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	93					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCTCCATCTCGCCAGGAAGAT	0.512000													11	47					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32466621	32466621	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chrX:32466621G>C	ENST00000357033.4	-	27	3944	c.3738C>G	c.(3736-3738)aaC>aaG	p.N1246K	DMD_ENST00000378677.2_Missense_Mutation_p.N1242K	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1246					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCCACTGGTAGTTGGTGGTTA	0.413000													11	8					0	0	1	0	0
C7orf63	79846	broad.mit.edu	37	7	89917641	89917641	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:89917641C>A	ENST00000389297.4	+	15	2001	c.1750C>A	c.(1750-1752)Ctt>Att	p.L584I	C7orf63_ENST00000497910.1_Missense_Mutation_p.L566I|C7orf63_ENST00000316089.8_Missense_Mutation_p.L584I	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	584							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TAATGTACTTCTTTTTAGTAC	0.378000													24	119					1.17739e-12	1.83636e-12	1	1	0
LLGL2	3993	broad.mit.edu	37	17	73566089	73566089	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr17:73566089G>T	ENST00000392550.3	+	15	1744	c.1627G>T	c.(1627-1629)Gag>Tag	p.E543*	LLGL2_ENST00000167462.5_Nonsense_Mutation_p.E543*|LLGL2_ENST00000577200.1_Nonsense_Mutation_p.E543*	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	543					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			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)			GCAGGCTGTGGAGCAGGTGGA	0.687000													26	25					3.90053e-15	6.44244e-15	1	1	0
TFEC	22797	broad.mit.edu	37	7	115596827	115596827	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:115596827A>T	ENST00000265440.7	-	4	468	c.288T>A	c.(286-288)gaT>gaA	p.D96E	TFEC_ENST00000457268.1_Missense_Mutation_p.D29E|TFEC_ENST00000484212.1_Missense_Mutation_p.D186E|TFEC_ENST00000393485.1_Missense_Mutation_p.D67E|TFEC_ENST00000320239.7_Missense_Mutation_p.D67E	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	96	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			CGCTATACACATCCAAAATAC	0.318000													14	34					0	0	1	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45731239	45731239	+	Silent	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:45731239G>A	ENST00000413988.1	-	4	326	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	EXOC3L2_ENST00000252482.3_Silent_p.L96L	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	96										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		TACCTCTGCAGGAACTCTGCC	0.622000													6	26					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43171718	43171718	+	Silent	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr6:43171718C>T	ENST00000252050.4	+	20	4236	c.4152C>T	c.(4150-4152)acC>acT	p.T1384T	CUL9_ENST00000354495.3_Silent_p.T1274T|CUL9_ENST00000372647.2_Silent_p.T1384T	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1384					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AGAACATCACCTCTCCCGGTA	0.567000													3	36					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7720969	7720969	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr17:7720969G>T	ENST00000572933.1	+	66	11571	c.10111G>T	c.(10111-10113)Ggg>Tgg	p.G3371W	DNAH2_ENST00000389173.2_Missense_Mutation_p.G3371W			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3371	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAACATCCAAGGGTTGCCCTC	0.592000													13	34					6.72482e-11	1.0036e-10	1	1	0
PRLHR	2834	broad.mit.edu	37	10	120353837	120353837	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr10:120353837G>T	ENST00000239032.2	-	2	1058	c.920C>A	c.(919-921)gCc>gAc	p.A307D	PRLHR_ENST00000369169.1_Missense_Mutation_p.A307D	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	307					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity	p.A307V(1)		large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		AGGGTCGATGGCGTGGGGGTC	0.647000													11	47					1.5842e-08	2.22317e-08	1	1	0
UNC5D	137970	broad.mit.edu	37	8	35544127	35544127	+	Silent	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr8:35544127G>T	ENST00000287272.2	+	6	836	c.816G>T	c.(814-816)cgG>cgT	p.R272R	UNC5D_ENST00000420357.1_Silent_p.R272R|UNC5D_ENST00000404895.2_Silent_p.R328R|UNC5D_ENST00000416672.1_Silent_p.R328R|UNC5D_ENST00000453357.2_Silent_p.R323R			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	328	TSP type-1 1.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AACATTTGCGGATCCGGGAGT	0.502000													9	49					2.80697e-09	4.03545e-09	1	1	0
SUPT6H	6830	broad.mit.edu	37	17	27002069	27002069	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr17:27002069G>T	ENST00000314616.6	+	5	710	c.427G>T	c.(427-429)Gaa>Taa	p.E143*	SUPT6H_ENST00000347486.4_Nonsense_Mutation_p.E143*	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	143	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ACATGAAAAAGAAGCTATTGC	0.522000													4	29					3.59834e-05	4.2232e-05	1	1	0
KDR	3791	broad.mit.edu	37	4	55962478	55962478	+	Silent	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr4:55962478G>T	ENST00000263923.4	-	19	2941	c.2646C>A	c.(2644-2646)ctC>ctA	p.L882L		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	882	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GTTCAGACATGAGAGCTCGAT	0.463000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			22	60					3.08376e-08	4.14932e-08	1	1	0
ISOC1	51015	broad.mit.edu	37	5	128430635	128430635	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr5:128430635G>A	ENST00000173527.5	+	1	192	c.176G>A	c.(175-177)gGc>gAc	p.G59D		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	59						peroxisome	catalytic activity			kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		AGCCTGTACGGCGACCAGATC	0.637000													15	7					0	0	1	0	0
KPNA2	3838	broad.mit.edu	37	17	66038394	66038394	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr17:66038394G>T	ENST00000537025.2	+	5	1116	c.496G>T	c.(496-498)Gca>Tca	p.A166S	KPNA2_ENST00000330459.3_Missense_Mutation_p.A166S			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	166	NLS binding site (major) (By similarity).				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGCCATCCCAGCATTCATTTC	0.468000													67	298					1.71382e-40	3.35908e-40	1	1	0
TRPA1	8989	broad.mit.edu	37	8	72971673	72971673	+	Splice_Site	SNP	T	T	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr8:72971673T>A	ENST00000262209.4	-	8	1152	c.944_splice	c.e8-1	p.R315_splice		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	315						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ACAATGAAGCTCTGAAAAAAC	0.229000													26	27					0	0	1	0	0
RARA	5914	broad.mit.edu	37	17	38487528	38487528	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr17:38487528C>T	ENST00000254066.5	+	2	513	c.58C>T	c.(58-60)Ccg>Tcg	p.P20S	RARA_ENST00000425707.3_Missense_Mutation_p.P20S|RARA_ENST00000394089.2_Missense_Mutation_p.P20S	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	20	Modulating.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CAATGGGTACCCGGTGCCTCC	0.642000			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL								38	22					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187608	152187608	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:152187608G>T	ENST00000368801.2	-	3	6572	c.6497C>A	c.(6496-6498)tCc>tAc	p.S2166Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2166					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACTGACGGGAGCCAGACCC	0.627000													38	887					2.47316e-13	3.90919e-13	1	1	0
MBL2	4153	broad.mit.edu	37	10	54528149	54528149	+	Silent	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr10:54528149G>T	ENST00000373968.3	-	4	559	c.495C>A	c.(493-495)ccC>ccA	p.P165P	MBL2_ENST00000493043.1_Intron	NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	165	C-type lectin.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding	p.P165P(1)		breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						CAGCATTCCTGGGGGTGGCCA	0.483000													42	44					6.08268e-21	1.09712e-20	1	1	0
CASP2	835	broad.mit.edu	37	7	143000939	143000939	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:143000939G>T	ENST00000310447.5	+	9	1271	c.1030G>T	c.(1030-1032)Gag>Tag	p.E344*	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	344					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					CCCTGGGTGCGAGGAGAGTGA	0.502000													6	34					0.0215528	0.0224699	1	1	0
NPIPB4	440345	broad.mit.edu	37	16	21848679	21848679	+	Silent	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr16:21848679G>T	ENST00000451409.1	-	7	1307	c.480C>A	c.(478-480)ccC>ccA	p.P160P	NPIPB4_ENST00000415645.2_Silent_p.P343P|NPIPB4_ENST00000537951.1_Silent_p.P127P|NPIPB4_ENST00000357370.5_Silent_p.P305P					nuclear pore complex interacting protein family, member B4																		GCAGACACTCGGGAGGTGTCT	0.572000													60	76					1.15062e-32	2.22554e-32	1	1	0
PCDHGA6	56109	broad.mit.edu	37	5	140753830	140753830	+	Silent	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr5:140753830G>A	ENST00000517434.1	+	1	180	c.180G>A	c.(178-180)gcG>gcA	p.A60A	PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1												p.A60A(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGTTGGCGGAGCACGGAG	0.602000													14	19					0	0	1	0	0
CDR2	1039	broad.mit.edu	37	16	22359093	22359093	+	Silent	SNP	A	A	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr16:22359093A>C	ENST00000268383.2	-	5	865	c.558T>G	c.(556-558)ggT>ggG	p.G186G		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	186						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		GGCTTGGCTGACCTTGCAAGG	0.448000													18	60					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328774	88328774	+	Silent	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr13:88328774G>T	ENST00000325089.6	+	2	1350	c.1131G>T	c.(1129-1131)gcG>gcT	p.A377A	SLITRK5_ENST00000400028.3_Silent_p.A136A	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	377	LRRNT.					integral to membrane		p.A377A(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GTCCCACCGCGTGCTCTTGCA	0.577000													16	22					3.99206e-14	6.44871e-14	1	1	0
SYNDIG1	79953	broad.mit.edu	37	20	24645992	24645992	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr20:24645992C>G	ENST00000376862.3	+	4	1262	c.629C>G	c.(628-630)gCc>gGc	p.A210G		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	210					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						ACCAACAAAGCCGTGGCCAAG	0.567000													36	163					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	64027005	64027005	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr15:64027005G>T	ENST00000443617.2	-	13	2651	c.2564C>A	c.(2563-2565)cCt>cAt	p.P855H		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	855					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCGTAATGGAGGTAACAGCAT	0.383000													3	13					1.024e-07	1.35611e-07	1	1	0
PRSS36	146547	broad.mit.edu	37	16	31154757	31154757	+	Missense_Mutation	SNP	A	A	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr16:31154757A>C	ENST00000268281.4	-	8	1064	c.1006T>G	c.(1006-1008)Tgg>Ggg	p.W336G	PRSS36_ENST00000418068.2_Missense_Mutation_p.W336G|PRSS36_ENST00000569305.1_Missense_Mutation_p.W336G	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	336	Peptidase S1 2.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						TGGGCCTCCCAGGGCCAGGCC	0.662000													14	11					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106960951	106960951	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr10:106960951G>A	ENST00000369701.3	+	16	2428	c.2201G>A	c.(2200-2202)cGa>cAa	p.R734Q	SORCS3_ENST00000369699.4_Missense_Mutation_p.R20Q	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	734						integral to membrane	neuropeptide receptor activity	p.R734Q(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GCCCTGGGCCGAGACCACTCA	0.488000													31	56					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100350258	100350258	+	Splice_Site	SNP	T	T	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:100350258T>G	ENST00000294724.4	+	20	3158	c.2681_splice	c.e20+1	p.S894_splice	AGL_ENST00000370163.3_Splice_Site_p.S894_splice|AGL_ENST00000370161.2_Splice_Site_p.S878_splice|AGL_ENST00000361522.4_Splice_Site_p.S877_splice|AGL_ENST00000361915.3_Splice_Site_p.S894_splice|AGL_ENST00000361302.3_Splice_Site_p.S878_splice|AGL_ENST00000370165.3_Splice_Site_p.S894_splice	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	894					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TCCTTTTGCTTCGTAAGTATG	0.373000													7	21					0	0	1	0	0
SLC5A5	6528	broad.mit.edu	37	19	18004572	18004572	+	Silent	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:18004572C>A	ENST00000222248.3	+	15	2165	c.1818C>A	c.(1816-1818)ccC>ccA	p.P606P		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	606					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GCTTCCTGCCCACCAATGAGG	0.587000													7	8					4.68919e-08	6.25225e-08	1	1	0
MFSD2A	84879	broad.mit.edu	37	1	40432551	40432551	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:40432551G>T	ENST00000372809.5	+	8	1056	c.913G>T	c.(913-915)Ggc>Tgc	p.G305C	MFSD2A_ENST00000372811.5_Missense_Mutation_p.G292C|MFSD2A_ENST00000420632.2_Missense_Mutation_p.G136C|MFSD2A_ENST00000480630.1_Intron	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	305					transmembrane transport	endoplasmic reticulum membrane|integral to membrane		p.G292C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CATGAGCCACGGCCCATACAT	0.562000													39	69					4.14481e-20	7.43033e-20	1	1	0
TLL1	7092	broad.mit.edu	37	4	166795155	166795155	+	Silent	SNP	T	T	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr4:166795155T>C	ENST00000061240.2	+	1	746	c.99T>C	c.(97-99)taT>taC	p.Y33Y	TLL1_ENST00000507499.1_Silent_p.Y33Y|TLL1_ENST00000513213.1_Silent_p.Y33Y	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	33					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GCCTCGATTATGATTACACTT	0.542000													55	77					0	0	1	0	0
ZNF2	7549	broad.mit.edu	37	2	95846908	95846908	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:95846908G>T	ENST00000398107.2	+	4	731	c.209G>T	c.(208-210)aGg>aTg	p.R70M	ZNF2_ENST00000425369.1_Missense_Mutation_p.R32M|ZNF2_ENST00000453539.2_Missense_Mutation_p.R125M|ZNF2_ENST00000295210.6_Missense_Mutation_p.R74M|ZNF2_ENST00000340539.5_Missense_Mutation_p.R112M	NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	112	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		GGATCATTGAGGGAATGCCTT	0.448000													12	64					0.0167234	0.017591	1	1	0
ZNF518B	85460	broad.mit.edu	37	4	10445616	10445616	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr4:10445616C>A	ENST00000326756.3	-	3	2775	c.2337G>T	c.(2335-2337)agG>agT	p.R779S		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	779					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						AATTAAGAACCCTCAACACAG	0.468000													4	37					0.00024832	0.000280793	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21906152	21906152	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:21906152G>C	ENST00000328843.6	+	72	11613	c.11582G>C	c.(11581-11583)tGg>tCg	p.W3861S	DNAH11_ENST00000409508.3_Missense_Mutation_p.W3854S			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3861					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCCAAGCAGTGGAGGAAGTGG	0.423000									Kartagener syndrome				7	100					0	0	1	0	0
DHX36	170506	broad.mit.edu	37	3	154042092	154042092	+	Silent	SNP	T	T	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr3:154042092T>A	ENST00000496811.1	-	1	194	c.114A>T	c.(112-114)ggA>ggT	p.G38G	DHX36_ENST00000544526.1_Silent_p.G38G|DHX36_ENST00000329463.5_Silent_p.G38G|DHX36_ENST00000308361.6_Silent_p.G38G	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	38	Gly-rich.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CGCCGCCGCCTCCTCCGGAGC	0.706000													17	9					0	0	1	0	0
TPCN2	219931	broad.mit.edu	37	11	68853220	68853220	+	Splice_Site	SNP	G	G	A	rs148607240	byFrequency	TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:68853220G>A	ENST00000294309.3	+	21	2021	c.1920_splice	c.e21+1	p.A640_splice	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Intron	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	640					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ATGACTTTGCGGTGAGCCCTG	0.687000													18	65					0	0	1	0	0
TBX20	57057	broad.mit.edu	37	7	35288451	35288451	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:35288451C>A	ENST00000408931.3	-	3	909	c.383G>T	c.(382-384)aGg>aTg	p.R128M		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	128						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TGGAAACATCCTCCTGACAGA	0.527000													21	45					2.4375e-19	4.35638e-19	1	1	0
ADAMTS13	11093	broad.mit.edu	37	9	136291323	136291323	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr9:136291323G>A	ENST00000371929.3	+	6	988	c.544G>A	c.(544-546)Gac>Aac	p.D182N	ADAMTS13_ENST00000371916.1_Missense_Mutation_p.D182N|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.D182N|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.D182N|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371911.3_Missense_Mutation_p.D182N	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	182	Peptidase M12B.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ACCGAGGTTTGACCTGGAGTT	0.637000													21	43					0	0	1	0	0
CORO1C	23603	broad.mit.edu	37	12	109094945	109094945	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr12:109094945T>C	ENST00000261401.3	-	2	322	c.150A>G	c.(148-150)atA>atG	p.I50M	CORO1C_ENST00000420959.2_Missense_Mutation_p.I103M|CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000549772.1_Missense_Mutation_p.I56M|CORO1C_ENST00000541050.1_Missense_Mutation_p.I50M	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	50					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						CACTTGCCTCTATGATTATGG	0.473000													36	100					0	0	1	0	0
PPP3R2	5535	broad.mit.edu	37	9	104357194	104357194	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr9:104357194C>T	ENST00000374806.1	-	1	89	c.19G>A	c.(19-21)Gag>Aag	p.E7K	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	4							calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	TAACTGGCCTCGTTTCCCATT	0.592000													14	30					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121650942	121650942	+	Silent	SNP	A	A	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:121650942A>T	ENST00000393386.2	+	12	2253	c.1842A>T	c.(1840-1842)ccA>ccT	p.P614P	PTPRZ1_ENST00000449182.1_Silent_p.P614P	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	614					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CCGAAAACCCAGAGACAATAA	0.418000													23	35					0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700283	136700283	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:136700283C>A	ENST00000445907.2	+	3	1199	c.671C>A	c.(670-672)cCt>cAt	p.P224H	AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.P224H|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.P224H|CHRM2_ENST00000401861.1_Missense_Mutation_p.P224H|CHRM2_ENST00000402486.3_Missense_Mutation_p.P224H|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.P224H|AC009264.1_ENST00000597642.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	224					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	AAGAAGGAGCCTGTTGCCAAC	0.493000													5	16					1	1	1	1	0
RYR2	6262	broad.mit.edu	37	1	237732488	237732488	+	Nonsense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:237732488G>A	ENST00000366574.2	+	29	3784	c.3467G>A	c.(3466-3468)tGg>tAg	p.W1156*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.W1154*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.W1140*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1156	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGCGCTCTTGGCAAGCAGGC	0.502000													19	33					0	0	1	0	0
MTNR1B	4544	broad.mit.edu	37	11	92715180	92715180	+	Nonsense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:92715180G>A	ENST00000257068.2	+	2	797	c.791G>A	c.(790-792)tGg>tAg	p.W264*		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	264					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	GCCATCTGCTGGGCTCCACTT	0.552000													39	67					0	0	1	0	0
TTC8	123016	broad.mit.edu	37	14	89337909	89337909	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr14:89337909G>T	ENST00000338104.6	+	12	1166	c.1114G>T	c.(1114-1116)Ggc>Tgc	p.G372C	TTC8_ENST00000358622.5_Missense_Mutation_p.G158C|TTC8_ENST00000354441.6_Missense_Mutation_p.G91C|TTC8_ENST00000346301.4_Missense_Mutation_p.G316C|TTC8_ENST00000345383.5_Missense_Mutation_p.G346C|TTC8_ENST00000536576.1_Missense_Mutation_p.G117C|TTC8_ENST00000380656.2_Missense_Mutation_p.G356C			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	382					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GCTGCAGATGGGCATTTATAA	0.383000													4	26					8.12818e-05	9.38973e-05	1	1	0
SERPINE1	5054	broad.mit.edu	37	7	100773858	100773858	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:100773858C>A	ENST00000223095.4	+	3	585	c.428C>A	c.(427-429)aCg>aAg	p.T143K	SERPINE1_ENST00000445463.2_Missense_Mutation_p.T128K	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	143					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	TTCCGGAGCACGGTCAAGCAA	0.532000													119	274					1.324e-77	2.65703e-77	1	1	0
C5AR1	728	broad.mit.edu	37	19	47824025	47824025	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:47824025G>T	ENST00000355085.3	+	2	1013	c.991G>T	c.(991-993)Gag>Tag	p.E331*		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	331					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CGTGGTTAGGGAGAGCAAGTC	0.622000													10	37					1.76689e-08	2.43881e-08	1	1	0
RIT2	6014	broad.mit.edu	37	18	40695454	40695454	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr18:40695454G>T	ENST00000589109.1	-	1	202	c.31C>A	c.(31-33)Ccg>Acg	p.P11T	RIT2_ENST00000282028.4_Missense_Mutation_p.P11T|RIT2_ENST00000590910.1_Missense_Mutation_p.P11T|RIT2_ENST00000326695.5_Missense_Mutation_p.P11T	NM_001272077.1	NP_001259006.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	11					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCGCTGCCCGGGGAGCAGCTG	0.527000													22	36					6.32553e-13	9.94495e-13	1	1	0
JMJD6	23210	broad.mit.edu	37	17	74720008	74720008	+	Silent	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr17:74720008G>A	ENST00000445478.2	-	3	854	c.651C>T	c.(649-651)ctC>ctT	p.L217L	JMJD6_ENST00000397625.4_Silent_p.L217L|JMJD6_ENST00000585429.1_Silent_p.L217L	NM_001081461.1	NP_001074930.1	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	217	JmjC.				mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						TCACTTTGATGAGTTCCCTGG	0.542000													46	36					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16961963	16961963	+	Splice_Site	SNP	T	T	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr10:16961963T>A	ENST00000377833.4	-	44	6885	c.6821_splice	c.e44+1	p.N2274_splice		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2274	CUB 16.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTGACATACTTGGGTGTTACT	0.413000													27	19					0	0	1	0	0
SH3RF3	344558	broad.mit.edu	37	2	109964268	109964268	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:109964268G>A	ENST00000309415.6	+	2	712	c.712G>A	c.(712-714)Ggc>Agc	p.G238S		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	238	SH3 1.						zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CGAGCTGCACGGCACACAGGG	0.582000													13	26					0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555453	155555453	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:155555453C>A	ENST00000295101.2	+	1	643	c.166C>A	c.(166-168)Cag>Aag	p.Q56K	KCNJ3_ENST00000544049.1_Missense_Mutation_p.Q56K	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	56					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GTGCAATGTACAGCACGGCAA	0.622000													15	15					4.93089e-13	7.77309e-13	1	1	0
STK39	27347	broad.mit.edu	37	2	169020276	169020276	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:169020276T>C	ENST00000355999.4	-	4	1250	c.545A>G	c.(544-546)tAt>tGt	p.Y182C		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	182	Protein kinase.				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						TCTGTGTAGATAGTCTAAGCC	0.378000													4	52					0	0	1	0	0
CYP2A7	1549	broad.mit.edu	37	19	41388078	41388078	+	Missense_Mutation	SNP	G	G	A	rs149348812		TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:41388078G>A	ENST00000301146.4	-	1	579	c.38C>T	c.(37-39)gCc>gTc	p.A13V	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.A13V	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	13						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGTCAGGCAGGCCAGCAAGGC	0.572000													5	64					0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86887407	86887407	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chrX:86887407C>G	ENST00000373119.4	+	7	1667	c.1522C>G	c.(1522-1524)Ccc>Gcc	p.P508A	KLHL4_ENST00000373114.4_Missense_Mutation_p.P508A	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	508						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TGTGATGCCTCCCATGTCAAC	0.368000													14	6					0	0	1	0	0
BDH1	622	broad.mit.edu	37	3	197273292	197273292	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr3:197273292C>A	ENST00000392379.1	-	3	424	c.23G>T	c.(22-24)aGa>aTa	p.R8I	BDH1_ENST00000441275.1_Intron|BDH1_ENST00000392378.2_Missense_Mutation_p.R8I|BDH1_ENST00000358186.2_Missense_Mutation_p.R8I	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	8					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	TGACAGGGGTCTGGAGAGGCG	0.537000													26	25					1.42033e-22	2.60173e-22	1	1	0
TEX11	56159	broad.mit.edu	37	X	69811632	69811632	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chrX:69811632G>T	ENST00000395889.2	-	26	2309	c.2154C>A	c.(2152-2154)tgC>tgA	p.C718*	TEX11_ENST00000374333.2_Nonsense_Mutation_p.C703*|TEX11_ENST00000374320.2_Nonsense_Mutation_p.C393*|TEX11_ENST00000344304.3_Nonsense_Mutation_p.C718*	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	718							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GGATGTCATTGCATGTCTGGA	0.383000													9	5					2.80697e-09	4.03545e-09	1	1	0
EEA1	8411	broad.mit.edu	37	12	93244898	93244898	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr12:93244898C>T	ENST00000322349.8	-	9	1051	c.787G>A	c.(787-789)Gct>Act	p.A263T		NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	263					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TCTGAGCTAGCATATTGTGAC	0.358000													6	51					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58206761	58206761	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr13:58206761G>T	ENST00000377918.3	+	1	107	c.81G>T	c.(79-81)gaG>gaT	p.E27D		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	27	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCGTGCCGGAGGAGCAAGGGG	0.632000													10	5					0.000673444	0.000740159	1	1	0
RSPO2	340419	broad.mit.edu	37	8	108970395	108970395	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr8:108970395C>G	ENST00000276659.5	-	5	1149	c.529G>C	c.(529-531)Gtt>Ctt	p.V177L	RSPO2_ENST00000378439.2_Missense_Mutation_p.V113L|RSPO2_ENST00000517781.1_Missense_Mutation_p.V113L|RSPO2_ENST00000517939.1_Missense_Mutation_p.V110L	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	177	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			GGCTTTTTAACAATTTGCCGT	0.443000													47	84					0	0	1	0	0
ANAPC7	51434	broad.mit.edu	37	12	110820696	110820696	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr12:110820696C>T	ENST00000455511.3	-	7	989	c.989G>A	c.(988-990)cGc>cAc	p.R330H	ANAPC7_ENST00000450008.2_Missense_Mutation_p.R330H	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	330					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						ATTGAAAAGGCGGCATCCAAG	0.458000													5	202					0	0	1	0	0
JPH3	57338	broad.mit.edu	37	16	87678146	87678146	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr16:87678146G>T	ENST00000284262.2	+	2	907	c.665G>T	c.(664-666)gGg>gTg	p.G222V		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	222					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CTGCTGAGTGGGCTGAAGCTG	0.657000													10	12					0.00498961	0.00533434	1	1	0
KIF19	124602	broad.mit.edu	37	17	72346895	72346895	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr17:72346895C>G	ENST00000389916.4	+	12	1576	c.1438C>G	c.(1438-1440)Cga>Gga	p.R480G		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	480					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GGAGGAGCAGCGAAAGGAGTG	0.647000													13	55					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64675528	64675528	+	Missense_Mutation	SNP	A	A	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr14:64675528A>C	ENST00000357395.3	+	102	18553	c.7409A>C	c.(7408-7410)aAc>aCc	p.N2470T	SYNE2_ENST00000344113.4_Missense_Mutation_p.N6085T|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.N6085T|SYNE2_ENST00000554584.1_Missense_Mutation_p.N6047T|SYNE2_ENST00000555002.1_Missense_Mutation_p.N2719T|SYNE2_ENST00000555022.1_5'UTR|SYNE2_ENST00000394768.2_Missense_Mutation_p.N2470T			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6085					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCCGTGTTTAACATCTGTGAC	0.527000													26	72					0	0	1	0	0
SLC17A4	10050	broad.mit.edu	37	6	25771161	25771161	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr6:25771161G>T	ENST00000377905.4	+	6	746	c.627G>T	c.(625-627)atG>atT	p.M209I	SLC17A4_ENST00000439485.2_Intron|SLC17A4_ENST00000397076.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	209					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CAGGGTCAATGCTGGGGTCCT	0.493000													11	94					7.93312e-07	1.001e-06	1	1	0
OR2J3	442186	broad.mit.edu	37	6	29080190	29080190	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr6:29080190C>A	ENST00000377169.1	+	1	523	c.523C>A	c.(523-525)Cgc>Agc	p.R175S		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R175S(1)		endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						GTGTGGACACCGCCAAGTAGA	0.488000													19	38					1.33834e-09	1.94307e-09	1	1	0
CALD1	800	broad.mit.edu	37	7	134552502	134552502	+	Silent	SNP	T	T	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:134552502T>A	ENST00000361388.2	+	3	484	c.18T>A	c.(16-18)cgT>cgA	p.R6R	CALD1_ENST00000361675.2_Silent_p.R6R|CALD1_ENST00000422748.1_Silent_p.R6R|CALD1_ENST00000417172.1_Silent_p.R6R|CALD1_ENST00000361901.2_Silent_p.R6R	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	6					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						ATTTTGAGCGTCGCAGAGAAC	0.433000													20	25					0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233899170	233899170	+	Silent	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:233899170G>T	ENST00000233840.3	+	2	546	c.546G>T	c.(544-546)cgG>cgT	p.R182R		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	182			R -> Q (in dbSNP:rs2233393).				exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		ACGCCTACCGGAAACTTCACC	0.652000													11	19					4.68919e-08	6.25225e-08	1	1	0
FKBP10	60681	broad.mit.edu	37	17	39978051	39978051	+	Silent	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr17:39978051C>A	ENST00000321562.4	+	9	1649	c.1545C>A	c.(1543-1545)ggC>ggA	p.G515G	FKBP10_ENST00000544340.1_Silent_p.G288G	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	515	EF-hand 1.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.G515G(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		ACAAGGATGGCGAGGTCCCTC	0.602000													17	58					1.67942e-08	2.34004e-08	1	1	0
MRC1	4360	broad.mit.edu	37	10	17949621	17949621	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr10:17949621C>T	ENST00000331429.2	+	28	4088	c.3985C>T	c.(3985-3987)Cgg>Tgg	p.R1329W																	breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTCTGGTGAACGGAATGATTG	0.403000													14	96					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960667	73960667	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chrX:73960667C>A	ENST00000373468.1	-	3	4376	c.3725G>T	c.(3724-3726)gGc>gTc	p.G1242V	KIAA2022_ENST00000055682.5_Missense_Mutation_p.G1242V			Q5QGS0	K2022_HUMAN	KIAA2022	1242					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCCCCCACGGCCAATGCCAAT	0.493000													4	6					0.014758	0.0155794	1	1	0
SLC6A2	6530	broad.mit.edu	37	16	55725860	55725860	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr16:55725860T>A	ENST00000379906.2	+	5	1069	c.814T>A	c.(814-816)Ttc>Atc	p.F272I	SLC6A2_ENST00000414754.3_Missense_Mutation_p.F272I|SLC6A2_ENST00000219833.8_Missense_Mutation_p.F272I|SLC6A2_ENST00000561820.1_Missense_Mutation_p.F272I|SLC6A2_ENST00000568943.1_Missense_Mutation_p.F272I|SLC6A2_ENST00000567238.1_Missense_Mutation_p.F167I|SLC6A2_ENST00000566163.1_Intron	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	272					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GCTGCCTTACTTCGTGCTGTT	0.607000													19	13					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65438997	65438997	+	Silent	SNP	T	T	C	rs147479917		TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr3:65438997T>C	ENST00000330909.8	-	6	977	c.978A>G	c.(976-978)acA>acG	p.T326T	MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Silent_p.T326T|MAGI1_ENST00000402939.2_Silent_p.T326T|MAGI1_ENST00000497477.2_Silent_p.T326T	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	326	WW 1.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTAACCAAGATGTTGTTTTCG	0.413000													37	20					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35122620	35122620	+	Silent	SNP	T	T	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr21:35122620T>C	ENST00000381318.3	+	6	807	c.519T>C	c.(517-519)gcT>gcC	p.A173A	ITSN1_ENST00000399349.1_Silent_p.A173A|ITSN1_ENST00000381285.4_Silent_p.A173A|ITSN1_ENST00000399326.3_Silent_p.A173A|ITSN1_ENST00000381291.4_Silent_p.A173A|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399353.1_Silent_p.A136A|ITSN1_ENST00000399367.3_Silent_p.A173A|ITSN1_ENST00000379960.5_Silent_p.A173A|ITSN1_ENST00000399355.2_Silent_p.A173A|ITSN1_ENST00000399352.1_Silent_p.A173A|ITSN1_ENST00000437442.2_Silent_p.A173A|ITSN1_ENST00000399338.4_Silent_p.A173A	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	173					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CTGCATTTGCTCATCCTGGTA	0.443000													17	108					0	0	1	0	0
PRAMEF20	645425	broad.mit.edu	37	1	13743067	13743067	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:13743067G>C	ENST00000316412.5	+	2	355	c.256G>C	c.(256-258)Gat>Cat	p.D86H	PRAMEF20_ENST00000602960.1_Missense_Mutation_p.D86H	NM_001099852.1	NP_001093322.1	Q5VT98	PRA20_HUMAN	PRAME family member 20	86										endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.5e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000156)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CGATGGGCTTGATGCACTGCT	0.602000													7	43					0	0	1	0	0
MARCH6	10299	broad.mit.edu	37	5	10402501	10402501	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr5:10402501G>T	ENST00000274140.5	+	13	1191	c.1059G>T	c.(1057-1059)ttG>ttT	p.L353F	MARCH6_ENST00000449913.2_Missense_Mutation_p.L305F|MARCH6_ENST00000503788.1_Missense_Mutation_p.L248F|MARCH6_ENST00000510792.1_Missense_Mutation_p.L51F	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	353					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	p.L353L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TGTAGGGCTTGGCAACTCTTG	0.338000													11	75					4.3838e-07	5.62811e-07	1	1	0
IGDCC3	9543	broad.mit.edu	37	15	65621255	65621255	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr15:65621255C>A	ENST00000327987.4	-	14	2688	c.2437G>T	c.(2437-2439)Gaa>Taa	p.E813*		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	813										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGCTACTGTTCCGAGTGAGCT	0.632000													14	28					0.000566183	0.000628143	1	1	0
CNTLN	54875	broad.mit.edu	37	9	17484328	17484328	+	Silent	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr9:17484328G>A	ENST00000380647.3	+	24	3975	c.3891G>A	c.(3889-3891)gtG>gtA	p.V1297V	CNTLN_ENST00000425824.1_Silent_p.V1297V|CNTLN_ENST00000262360.5_Silent_p.V1297V			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1297						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		ATGTCCATGTGGTAAGGCGAC	0.383000													25	34					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4089086	4089086	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:4089086G>T	ENST00000404826.2	+	18	2848	c.2709G>T	c.(2707-2709)caG>caT	p.Q903H	SDK1_ENST00000389531.3_Missense_Mutation_p.Q903H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	903	Fibronectin type-III 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCATCAACCAGGGATACAAGG	0.602000													17	37					1.33834e-09	1.94307e-09	1	1	0
COL14A1	7373	broad.mit.edu	37	8	121381709	121381709	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr8:121381709G>C	ENST00000297848.3	+	47	5566	c.5296G>C	c.(5296-5298)Gcc>Ccc	p.A1766P	COL14A1_ENST00000247781.3_Missense_Mutation_p.A1671P|COL14A1_ENST00000309791.4_Missense_Mutation_p.A1766P	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1766	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ATCATGTTCTGCCTATGGTGT	0.507000													39	42					0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761238	55761238	+	Silent	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:55761238C>A	ENST00000278409.1	-	1	863	c.864G>T	c.(862-864)ctG>ctT	p.L288L		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GGCTGTAGATCAGAGGATTCA	0.433000													8	41					6.21321e-17	1.06203e-16	1	1	0
FLG	2312	broad.mit.edu	37	1	152284538	152284538	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:152284538G>T	ENST00000368799.1	-	3	2859	c.2824C>A	c.(2824-2826)Cag>Aag	p.Q942K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	942	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGATCCCTGGCGCCTGCTT	0.562000									Ichthyosis				88	356					1.43847e-43	2.82882e-43	1	1	0
SLCO4A1	28231	broad.mit.edu	37	20	61288448	61288448	+	Silent	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr20:61288448G>T	ENST00000217159.1	+	2	847	c.642G>T	c.(640-642)gcG>gcT	p.A214A	SLCO4A1_ENST00000370507.1_Silent_p.A214A	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	214					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			ACCCCGGCGCGGTGTGTGCGG	0.687000													2	4					0.115264	0.118075	1	1	0
CLPTM1L	81037	broad.mit.edu	37	5	1323984	1323984	+	Splice_Site	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr5:1323984C>A	ENST00000320895.5	-	12	1455	c.1197_splice	c.e12-1	p.A400_splice	CLPTM1L_ENST00000320927.6_Splice_Site_p.A364_splice|CLPTM1L_ENST00000506641.1_5'UTR|CLPTM1L_ENST00000507807.1_Splice_Site_p.A231_splice	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	400					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		TACTTCATGGCCTGCAGGGAA	0.532000													57	32					2.02627e-32	3.90639e-32	1	1	0
SLC5A1	6523	broad.mit.edu	37	22	32464549	32464549	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr22:32464549C>A	ENST00000266088.4	+	5	689	c.439C>A	c.(439-441)Ctt>Att	p.L147I	SLC5A1_ENST00000543737.1_Missense_Mutation_p.L20I	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	147					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						CTACCTTTCCCTTCTGTCCCT	0.582000													11	51					7.93312e-07	1.001e-06	1	1	0
EFNA2	1943	broad.mit.edu	37	19	1295574	1295574	+	Silent	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:1295574G>T	ENST00000215368.2	+	2	186	c.171G>T	c.(169-171)ggG>ggT	p.G57G	MUM1_ENST00000344663.3_Intron	NM_001405.3	NP_001396.2	O43921	EFNA2_HUMAN	ephrin-A2	57					cell-cell signaling	anchored to membrane|plasma membrane	ephrin receptor binding			lung(2)	2		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGACGGCGGGGGCTACACGG	0.721000													3	3					0.004672	0.00500389	1	1	0
ZNF716	441234	broad.mit.edu	37	7	57528925	57528925	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:57528925C>A	ENST00000420713.1	+	4	870	c.758C>A	c.(757-759)tCt>tAt	p.S253Y		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TTTAGCTGGTCTGCATCCCTT	0.398000													5	29					0.0215528	0.0224699	1	1	0
GPR115	221393	broad.mit.edu	37	6	47682410	47682410	+	Missense_Mutation	SNP	A	A	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr6:47682410A>C	ENST00000283303.2	+	6	1687	c.1429A>C	c.(1429-1431)Aca>Cca	p.T477P	GPR115_ENST00000371220.1_Missense_Mutation_p.T534P|GPR115_ENST00000327753.3_Missense_Mutation_p.T477P	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	477					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TGTTGCAGTGACATTTTTCAG	0.408000													50	150					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31812883	31812883	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr10:31812883C>A	ENST00000446923.2	+	8	2967	c.2576C>A	c.(2575-2577)tCa>tAa	p.S859*	ZEB1_ENST00000542815.3_Nonsense_Mutation_p.S808*|ZEB1_ENST00000320985.10_Nonsense_Mutation_p.S875*|ZEB1_ENST00000361642.5_Nonsense_Mutation_p.S876*|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Nonsense_Mutation_p.S855*	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	875					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GATACTAGCTCAGAAGGAGTA	0.348000													6	58					0.000157383	0.000179692	1	1	0
TTC36	143941	broad.mit.edu	37	11	118399492	118399492	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:118399492A>G	ENST00000539546.1	+	3	451	c.116A>G	c.(115-117)cAg>cGg	p.Q39R	RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA|TTC36_ENST00000302783.4_Missense_Mutation_p.Q98R|RP11-770J1.3_ENST00000554407.1_RNA			A6NLP5	TTC36_HUMAN	tetratricopeptide repeat domain 36	98							binding			lung(2)	2						CGGCGACTCCAGGGAGACGTG	0.647000													3	48					0	0	1	0	0
ZNF512	84450	broad.mit.edu	37	2	27840351	27840351	+	Silent	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:27840351G>T	ENST00000355467.4	+	13	1391	c.1308G>T	c.(1306-1308)gtG>gtT	p.V436V	RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_Silent_p.V435V|ZNF512_ENST00000556601.1_Silent_p.V305V|ZNF512_ENST00000416005.2_Silent_p.V407V|ZNF512_ENST00000413371.2_Silent_p.V359V			Q96ME7	ZN512_HUMAN	zinc finger protein 512	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					GAAACTTTGTGGCTGGAAAAT	0.383000													17	29					5.03518e-11	7.55278e-11	1	1	0
TEKT3	64518	broad.mit.edu	37	17	15234527	15234527	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr17:15234527G>C	ENST00000395930.1	-	3	562	c.376C>G	c.(376-378)Cgc>Ggc	p.R126G	TEKT3_ENST00000338696.2_Missense_Mutation_p.R126G	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	126					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TGAATCAGGCGAGATGTATCC	0.413000													23	68					0	0	1	0	0
NR4A2	4929	broad.mit.edu	37	2	157184479	157184479	+	Missense_Mutation	SNP	T	T	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:157184479T>G	ENST00000339562.4	-	5	1404	c.1042A>C	c.(1042-1044)Aaa>Caa	p.K348Q	NR4A2_ENST00000409108.2_Missense_Mutation_p.K348Q|NR4A2_ENST00000409572.1_Missense_Mutation_p.K348Q|NR4A2_ENST00000426264.1_Missense_Mutation_p.K285Q|NR4A2_ENST00000429376.1_Missense_Mutation_p.K285Q|NR4A2_ENST00000539077.1_Missense_Mutation_p.K359Q	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	348	Pro-rich.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CTCTTCGGTTTCGAGGGCAAA	0.622000													4	4					0	0	1	0	0
MMS22L	253714	broad.mit.edu	37	6	97729166	97729166	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr6:97729166C>G	ENST00000275053.4	-	3	502	c.237G>C	c.(235-237)tgG>tgC	p.W79C	MMS22L_ENST00000369251.2_Missense_Mutation_p.W79C	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	79					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTTCAGTAACCCACTGAATGC	0.318000													14	26					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81611924	81611924	+	Silent	SNP	T	T	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:81611924T>A	ENST00000356860.3	-	24	2252	c.1914A>T	c.(1912-1914)ccA>ccT	p.P638P	CACNA2D1_ENST00000356253.5_Silent_p.P650P	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	650						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CAAAATTATCTGGCTTCAGGG	0.353000													47	73					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62751566	62751566	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr3:62751566C>A	ENST00000383710.4	-	2	884	c.535G>T	c.(535-537)Gct>Tct	p.A179S	CADPS_ENST00000357948.3_Missense_Mutation_p.A179S|CADPS_ENST00000283269.9_Missense_Mutation_p.A179S|CADPS_ENST00000490353.2_Missense_Mutation_p.A179S	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	179					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CTCTGCACAGCGTTCATGAAG	0.522000													25	20					5.77227e-19	1.01925e-18	1	1	0
PNISR	25957	broad.mit.edu	37	6	99860520	99860520	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr6:99860520G>A	ENST00000369239.5	-	4	388	c.184C>T	c.(184-186)Cca>Tca	p.P62S	PNISR_ENST00000466057.1_5'UTR|PNISR_ENST00000438806.1_Missense_Mutation_p.P62S	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	62						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TGTCCATTTGGCATCATTCCT	0.453000													3	62					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589465	140589465	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr5:140589465G>T	ENST00000239450.2	+	1	1175	c.986G>T	c.(985-987)gGa>gTa	p.G329V	PCDHB12_ENST00000541609.1_5'UTR	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		329	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACTTTTTGGAAAATCTACA	0.408000													23	14					3.08376e-08	4.14932e-08	1	1	0
KIAA1244	57221	broad.mit.edu	37	6	138655328	138655328	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr6:138655328G>T	ENST00000251691.4	+	33	5511	c.5345G>T	c.(5344-5346)aGg>aTg	p.R1782M		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1782					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGGACTGCCAGGGAGTTTGAC	0.562000													6	14					2.0095e-06	2.48232e-06	1	1	0
DMRT3	58524	broad.mit.edu	37	9	990852	990852	+	Silent	SNP	G	G	A	rs144093358		TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr9:990852G>A	ENST00000190165.2	+	2	1304	c.1266G>A	c.(1264-1266)tcG>tcA	p.S422S		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	422					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TCAGAAGCTCGCCCGTCCTTC	0.557000													5	32					0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25466175	25466175	+	Splice_Site	SNP	T	T	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr6:25466175T>A	ENST00000329474.6	+	9	1057	c.690_splice	c.e9+1	p.L230_splice	LRRC16A_ENST00000377969.3_Splice_Site_p.L69_splice	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	230					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GATCTAAAACTGGTAAGTAAT	0.353000													33	57					0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44053653	44053653	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:44053653C>T	ENST00000260645.1	-	6	781	c.642G>A	c.(640-642)atG>atA	p.M214I	ABCG5_ENST00000405322.1_Intron|ABCG5_ENST00000543989.1_Intron	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	214	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CATCAAACAGCATGACCTCTG	0.502000													30	77					0	0	1	0	0
CFHR1	3078	broad.mit.edu	37	1	196801041	196801041	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:196801041G>A	ENST00000320493.5	+	6	993	c.905G>A	c.(904-906)cGg>cAg	p.R302Q	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.3_Missense_Mutation_p.R243Q	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	302	Sushi 5.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GTGTGTAAACGGGGATATCGT	0.383000													33	82					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27202926	27202926	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr9:27202926G>A	ENST00000380036.4	+	13	2460	c.2018G>A	c.(2017-2019)cGt>cAt	p.R673H	TEK_ENST00000406359.4_Missense_Mutation_p.R630H|TEK_ENST00000519097.1_Missense_Mutation_p.R526H	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	673	Fibronectin type-III 3.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		ATTACTATCCGTTACAAGGTT	0.413000													7	57					0	0	1	0	0
USP2	9099	broad.mit.edu	37	11	119243549	119243549	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:119243549C>A	ENST00000260187.2	-	2	936	c.642G>T	c.(640-642)caG>caT	p.Q214H	USP2_ENST00000455332.2_Intron|RP11-334E6.3_ENST00000530918.2_RNA	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	214					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		AGGGAGGGGCCTGGGAGGGCA	0.632000													39	43					5.2432e-18	9.14838e-18	1	1	0
PADI3	51702	broad.mit.edu	37	1	17597417	17597417	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:17597417G>A	ENST00000375460.3	+	8	915	c.875G>A	c.(874-876)cGa>cAa	p.R292Q		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	292					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GTGGTGTTCCGAGTGGCACCC	0.622000													23	36					0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201196064	201196064	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:201196064C>A	ENST00000335211.4	+	23	10971	c.10841C>A	c.(10840-10842)cCc>cAc	p.P3614H	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGCCAGAAGCCCCGGTTCCTG	0.672000													31	79					1.62565e-12	2.52211e-12	1	1	0
ZNF709	163051	broad.mit.edu	37	19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418000													5	140					0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48575058	48575058	+	Silent	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr18:48575058G>T	ENST00000342988.3	+	3	790	c.252G>T	c.(250-252)gtG>gtT	p.V84V	SMAD4_ENST00000452201.2_Silent_p.V84V|SMAD4_ENST00000588745.1_Silent_p.V84V|SMAD4_ENST00000398417.2_Silent_p.V84V|RP11-729L2.2_ENST00000590722.2_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	84	MH1.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		ttttCTAGGTGGCTGGTCGGA	0.368000													8	18					0.00307968	0.00332266	1	1	0
CSPP1	79848	broad.mit.edu	37	8	68049813	68049813	+	Silent	SNP	C	C	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr8:68049813C>G	ENST00000262210.5	+	15	1966	c.1935C>G	c.(1933-1935)ctC>ctG	p.L645L	CSPP1_ENST00000412460.1_Silent_p.L351L	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	680						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GTGCTCCTCTCAGGGATGCAA	0.338000													9	21					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72017243	72017243	+	Silent	SNP	A	A	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr12:72017243A>G	ENST00000378743.3	-	24	4999	c.4641T>C	c.(4639-4641)aaT>aaC	p.N1547N		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1547					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AAGGATTATCATTAGATGGAT	0.348000													15	72					0	0	1	0	0
CALN1	83698	broad.mit.edu	37	7	71488689	71488689	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:71488689C>A	ENST00000395275.2	-	5	842	c.454G>T	c.(454-456)Ggt>Tgt	p.G152C	CALN1_ENST00000329008.5_Missense_Mutation_p.G110C|CALN1_ENST00000395276.2_Missense_Mutation_p.G110C|CALN1_ENST00000431984.1_Missense_Mutation_p.G110C|CALN1_ENST00000412588.1_Missense_Mutation_p.G152C|CALN1_ENST00000405452.2_Missense_Mutation_p.G110C	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	110						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CCATCGCGACCTTCTGAAGAC	0.418000													42	82					1.67886e-27	3.164e-27	1	1	0
COL4A2	1284	broad.mit.edu	37	13	111090995	111090995	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr13:111090995A>T	ENST00000360467.5	+	15	1198	c.892A>T	c.(892-894)Atg>Ttg	p.M298L		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	298	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGAAGGAATCATGGGCTTTCC	0.522000													26	29					0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21113343	21113343	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr18:21113343G>T	ENST00000269228.5	-	24	4284	c.3730C>A	c.(3730-3732)Ctc>Atc	p.L1244I	NPC1_ENST00000412552.2_Missense_Mutation_p.L926I	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1244					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAGACAGGGAGAAATATTAAT	0.403000													3	48					0.004672	0.00500389	1	1	0
GBA3	57733	broad.mit.edu	37	4	22729159	22729159	+	RNA	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr4:22729159G>T	ENST00000503442.1	+	0	149				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCAGTCTCTGGAGTGATAGGC	0.448000													73	84					4.3955e-51	8.73161e-51	1	1	0
FAM214B	80256	broad.mit.edu	37	9	35106295	35106295	+	Missense_Mutation	SNP	A	A	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr9:35106295A>C	ENST00000378561.1	-	5	4227	c.1172T>G	c.(1171-1173)gTc>gGc	p.V391G	FAM214B_ENST00000603301.1_Missense_Mutation_p.V391G|FAM214B_ENST00000488109.2_Missense_Mutation_p.V391G|FAM214B_ENST00000378554.2_Missense_Mutation_p.V391G|FAM214B_ENST00000378566.1_Missense_Mutation_p.V86G|FAM214B_ENST00000322813.5_Missense_Mutation_p.V391G|FAM214B_ENST00000605244.1_Missense_Mutation_p.V391G|FAM214B_ENST00000378557.1_Missense_Mutation_p.V391G			Q7L5A3	K1539_HUMAN	family with sequence similarity 214, member B	391						nucleus											AAAGAATGTGACAGTGACAGG	0.532000													12	68					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558931	113558931	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:113558931G>T	ENST00000284601.3	-	1	189	c.121C>A	c.(121-123)Cca>Aca	p.P41T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	41					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CGTCTACTTGGTTGAGGGGAG	0.373000													32	63					4.90274e-10	7.20703e-10	1	1	0
TEP1	7011	broad.mit.edu	37	14	20849833	20849833	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr14:20849833C>A	ENST00000262715.5	-	31	4477	c.4437G>T	c.(4435-4437)gaG>gaT	p.E1479D	TEP1_ENST00000545983.1_Intron|TEP1_ENST00000556935.1_Missense_Mutation_p.E1371D	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1479	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCAGAGGGCCCTCCCCTAGCA	0.612000													11	28					0.000151284	0.000173741	1	1	0
MARCH11	441061	broad.mit.edu	37	5	16091127	16091127	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr5:16091127G>C	ENST00000332432.8	-	3	956	c.757C>G	c.(757-759)Ctg>Gtg	p.L253V	MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	253						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						ATTAAGAACAGGGATCCTAGG	0.448000													13	9					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96962882	96962882	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr3:96962882G>T	ENST00000389672.5	+	5	1395	c.1357G>T	c.(1357-1359)Ggg>Tgg	p.G453W	EPHA6_ENST00000470610.2_Missense_Mutation_p.G453W	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	358	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGACACAGGAGGGAGAAAAGA	0.468000													4	7					1.23904e-05	1.48989e-05	1	1	0
DPYS	1807	broad.mit.edu	37	8	105459732	105459732	+	Splice_Site	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr8:105459732C>A	ENST00000351513.2	-	3	556		c.e3-1			NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase						protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTCTTTAACCTAAAAGGAAG	0.338000													11	21					0.00136819	0.00148706	1	1	0
MERTK	10461	broad.mit.edu	37	2	112686861	112686861	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:112686861G>T	ENST00000295408.4	+	2	483	c.226G>T	c.(226-228)Gga>Tga	p.G76*	MERTK_ENST00000421804.2_Nonsense_Mutation_p.G76*|MERTK_ENST00000409780.1_Intron			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	76					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ACCACATACAGGAAACGTAGC	0.512000													8	41					1	1	1	1	0
BRDT	676	broad.mit.edu	37	1	92442881	92442881	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:92442881C>A	ENST00000370389.2	+	6	1605	c.681C>A	c.(679-681)gaC>gaA	p.D227E	BRDT_ENST00000402388.1_Missense_Mutation_p.D300E|BRDT_ENST00000362005.3_Missense_Mutation_p.D300E|BRDT_ENST00000394530.3_Missense_Mutation_p.D254E|BRDT_ENST00000399546.2_Missense_Mutation_p.D300E|BRDT_ENST00000484781.1_3'UTR	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ATCCTGTTGACGTTAATGCTT	0.343000													17	42					7.45023e-12	1.14679e-11	1	1	0
PTBP3	9991	broad.mit.edu	37	9	114989795	114989795	+	Silent	SNP	A	A	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr9:114989795A>C	ENST00000334318.6	-	13	1539	c.1353T>G	c.(1351-1353)acT>acG	p.T451T	PTBP3_ENST00000458258.1_Silent_p.T454T|PTBP3_ENST00000374255.2_Silent_p.T448T|PTBP3_ENST00000374257.1_Silent_p.T420T|PTBP3_ENST00000343327.2_Silent_p.T353T	NM_001163790.2|NM_005156.6	NP_001157262.1|NP_005147.3	O95758	ROD1_HUMAN	polypyrimidine tract binding protein 3	448					anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding										TGAAATCCTTAGTCAGACCTT	0.448000													10	55					0	0	1	0	0
MRAP2	112609	broad.mit.edu	37	6	84798821	84798821	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr6:84798821C>A	ENST00000257776.4	+	4	374	c.239C>A	c.(238-240)tCc>tAc	p.S80Y		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	80					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						AATGCAGAGTCCTCAGAGAAG	0.453000													12	28					0.0167234	0.017591	1	1	0
IFI27L1	122509	broad.mit.edu	37	14	94563303	94563303	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr14:94563303G>T	ENST00000555523.1	+	2	239	c.20G>T	c.(19-21)tGg>tTg	p.W7L	IFI27L1_ENST00000554562.1_Missense_Mutation_p.W7L|IFI27L1_ENST00000554544.1_Missense_Mutation_p.W7L|IFI27L1_ENST00000556381.1_5'UTR|IFI27L1_ENST00000553664.1_Missense_Mutation_p.M29I|IFI27L1_ENST00000557218.1_Missense_Mutation_p.W7L|IFI27L1_ENST00000553350.1_3'UTR|IFI27L1_ENST00000393115.3_Missense_Mutation_p.W7L|IFI27L1_ENST00000557066.1_Missense_Mutation_p.W7L	NM_206949.2	NP_996832.1	Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1	7						integral to membrane				lung(2)	2						GAGAGTGGATGGGACTCAGGT	0.532000													4	19					3.59834e-05	4.2232e-05	1	1	0
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													7	94					0	0	1	0	0
DYM	54808	broad.mit.edu	37	18	46917985	46917985	+	Silent	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr18:46917985G>T	ENST00000269445.6	-	3	628	c.171C>A	c.(169-171)acC>acA	p.T57T	DYM_ENST00000442713.2_Silent_p.T57T|DYM_ENST00000584977.1_5'UTR	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	57						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						AGACTGAAATGGTTGCTTCCT	0.323000													37	41					4.64027e-19	8.24313e-19	1	1	0
MUC17	140453	broad.mit.edu	37	7	100685958	100685958	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:100685958T>A	ENST00000306151.4	+	3	11325	c.11261T>A	c.(11260-11262)cTt>cAt	p.L3754H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3754	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATAAGCACCCTTGGGACCACT	0.483000													100	165					0	0	1	0	0
IFNL2	282616	broad.mit.edu	37	19	39759454	39759454	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:39759454T>A	ENST00000331982.5	+	2	203	c.148T>A	c.(148-150)Tct>Act	p.S50T		NM_172138.1	NP_742150.1			interferon, lambda 2																		CAAGTCCCTGTCTCCACAGGA	0.632000													11	15					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7527940	7527940	+	Silent	SNP	G	G	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:7527940G>C	ENST00000303635.7	+	6	696	c.489G>C	c.(487-489)cgG>cgC	p.R163R	CAMTA1_ENST00000439411.2_Silent_p.R163R	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCTTCCACCGGAGGTGCTACT	0.567000			T	WWTR1	epitheliod hemangioendothelioma								46	140					0	0	1	0	0
IGLL5	100423062	broad.mit.edu	37	22	23235924	23235924	+	Nonsense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr22:23235924G>A	ENST00000532223.1	+	2	528	c.254G>A	c.(253-255)tGg>tAg	p.W85*	IGLL5_ENST00000531372.1_Intron|IGLL5_ENST00000526893.1_Nonsense_Mutation_p.W84*|IGLJ1_ENST00000390320.2_RNA			B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	84						extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CCCAGGTGCTGGCCCCGGGGG	0.627000													10	18					0	0	1	0	0
KCNK9	51305	broad.mit.edu	37	8	140630539	140630539	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr8:140630539C>T	ENST00000520439.1	-	2	1150	c.1087G>A	c.(1087-1089)Gac>Aac	p.D363N	KCNK9_ENST00000303015.1_Missense_Mutation_p.D363N			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	363						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CTCTGGTGGTCGGTAAAGCTG	0.468000													25	113					0	0	1	0	0
GOLGA2P9	440518	broad.mit.edu	37	19	22785282	22785282	+	RNA	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:22785282C>A	ENST00000600260.1	+	0	1458					NR_033899.1																						TGGGGGGACCCACCGGGCCCT	0.652000													7	7					3.86212e-05	4.52376e-05	1	1	0
FAT3	120114	broad.mit.edu	37	11	92087123	92087123	+	Silent	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:92087123C>T	ENST00000298047.6	+	1	1862	c.1845C>T	c.(1843-1845)atC>atT	p.I615I	FAT3_ENST00000541502.1_Silent_p.I615I|FAT3_ENST00000409404.2_Silent_p.I615I|FAT3_ENST00000525166.1_Silent_p.I465I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	615	Cadherin 6.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTACAAAATCATTTCTGGAA	0.363000										TCGA Ovarian(4;0.039)			6	10					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955686	18955686	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:18955686C>A	ENST00000302797.3	-	1	870	c.646G>T	c.(646-648)Gtg>Ttg	p.V216L		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	216					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGATGGTCACGTACAGCCTG	0.512000													7	44					8.12818e-05	9.38973e-05	1	1	0
KCTD7	154881	broad.mit.edu	37	7	66098317	66098317	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:66098317C>A	ENST00000275532.3	+	2	384	c.200C>A	c.(199-201)tCc>tAc	p.S67Y	KCTD7_ENST00000443322.1_Missense_Mutation_p.S67Y	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	67	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						ACACGCCTGTCCACACTGCGG	0.572000													15	50					0.000958276	0.00105124	1	1	0
IGHV1-18	28468	broad.mit.edu	37	14	106641939	106641939	+	RNA	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr14:106641939G>T	ENST00000390605.2	-	0	105																											CCTGGGACTGGGGAGTCCGTT	0.587000													8	22					4.68919e-08	6.25225e-08	1	1	0
MYH2	4620	broad.mit.edu	37	17	10427825	10427825	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr17:10427825C>G	ENST00000245503.5	-	35	5517	c.5133G>C	c.(5131-5133)gaG>gaC	p.E1711D	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1711D|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1711					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CATCCAGGAGCTCCTGTTCTG	0.522000													7	72					0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113714936	113714936	+	Silent	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr13:113714936C>T	ENST00000397030.1	+	5	535	c.498C>T	c.(496-498)gtC>gtT	p.V166V	MCF2L_ENST00000375604.2_Silent_p.V190V|MCF2L_ENST00000375608.3_Silent_p.V163V|MCF2L_ENST00000434480.2_Silent_p.V139V|MCF2L_ENST00000421756.1_Silent_p.V137V|MCF2L_ENST00000442652.2_Silent_p.V163V|MCF2L_ENST00000535094.2_Silent_p.V133V|MCF2L_ENST00000375597.4_Silent_p.V131V|MCF2L_ENST00000423482.2_Silent_p.V131V|MCF2L_ENST00000375601.3_Silent_p.V137V			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	163	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TGCAGCTCGTCCTCGTGCTTC	0.567000													15	19					0	0	1	0	0
SLC39A3	29985	broad.mit.edu	37	19	2733240	2733240	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:2733240C>A	ENST00000269740.4	-	3	783	c.454G>T	c.(454-456)Ggc>Tgc	p.G152C	AC006538.4_ENST00000586572.1_Intron|SLC39A3_ENST00000545664.1_Missense_Mutation_p.G152C	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	152						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCCGTGGCCGTGGGGCTCC	0.726000													5	8					0.000602214	0.000666859	1	1	0
NCF2	4688	broad.mit.edu	37	1	183556105	183556105	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:183556105G>A	ENST00000413720.1	-	2	456	c.182C>T	c.(181-183)aCc>aTc	p.T61I	NCF2_ENST00000418089.1_Missense_Mutation_p.T61I|NCF2_ENST00000367536.1_Missense_Mutation_p.T61I|NCF2_ENST00000367535.3_Missense_Mutation_p.T61I	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	61					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						AATGCTTCTGGTAAAGGCCTG	0.532000													60	52					0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18789836	18789836	+	Silent	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr10:18789836G>T	ENST00000396576.2	+	4	888	c.387G>T	c.(385-387)ctG>ctT	p.L129L	CACNB2_ENST00000377319.3_Silent_p.L129L|CACNB2_ENST00000324631.7_Silent_p.L184L|CACNB2_ENST00000377315.4_Silent_p.L136L|CACNB2_ENST00000282343.8_Silent_p.L156L|CACNB2_ENST00000377331.2_Silent_p.L156L|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000377329.4_Silent_p.L130L|CACNB2_ENST00000352115.6_Silent_p.L184L	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	184	SH3.				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ACATGAGGCTGCAGCATGAAC	0.403000													19	40					5.03518e-11	7.55278e-11	1	1	0
SLC7A3	84889	broad.mit.edu	37	X	70148048	70148048	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chrX:70148048C>A	ENST00000374299.3	-	5	911	c.767G>T	c.(766-768)gGa>gTa	p.G256V	SLC7A3_ENST00000298085.4_Missense_Mutation_p.G256V			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	256					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GGTCGCTGCTCCACGGAGAAT	0.512000													12	7					0.000308642	0.000346339	1	1	0
ATP2B3	492	broad.mit.edu	37	X	152807167	152807167	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chrX:152807167G>T	ENST00000370186.1	+	4	773	c.447G>T	c.(445-447)gaG>gaT	p.E149D	ATP2B3_ENST00000393842.1_Missense_Mutation_p.E149D|ATP2B3_ENST00000370181.2_Missense_Mutation_p.E149D|ATP2B3_ENST00000349466.2_Missense_Mutation_p.E149D|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E149D|ATP2B3_ENST00000263519.4_Missense_Mutation_p.E149D			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	149					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATGAGGGCGAGGCCGAAGCTG	0.612000													39	15					6.5261e-18	1.13531e-17	1	1	0
PDGFD	80310	broad.mit.edu	37	11	104034583	104034583	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:104034583G>T	ENST00000302251.5	-	1	524	c.73C>A	c.(73-75)Ccg>Acg	p.P25T	PDGFD_ENST00000393158.2_Missense_Mutation_p.P25T	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	25					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GCGCTCTGCGGGGTTGCAGAA	0.468000											OREG0021315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	29					2.61193e-14	4.24259e-14	1	1	0
AP001347.6	0	broad.mit.edu	37	21	15399866	15399866	+	RNA	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr21:15399866G>T	ENST00000428809.1	+	0	125																											TGACCTGCTGGCATTGAATGA	0.587000													20	35					2.37509e-13	3.7643e-13	1	1	0
RYR2	6262	broad.mit.edu	37	1	237732489	237732489	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:237732489G>T	ENST00000366574.2	+	29	3785	c.3468G>T	c.(3466-3468)tgG>tgT	p.W1156C	RYR2_ENST00000360064.6_Missense_Mutation_p.W1154C|RYR2_ENST00000542537.1_Missense_Mutation_p.W1140C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1156	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.W1154C(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCGCTCTTGGCAAGCAGGCG	0.507000													19	33					3.8784e-16	6.51572e-16	1	1	0
KDM5D	8284	broad.mit.edu	37	Y	21883061	21883061	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chrY:21883061C>A	ENST00000541639.1	-	13	1888	c.1601G>T	c.(1600-1602)tGg>tTg	p.W534L	KDM5D_ENST00000382806.2_Missense_Mutation_p.W446L|KDM5D_ENST00000317961.4_Missense_Mutation_p.W503L	NM_001146705.1	NP_001140177.1	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	503	JmjC.				chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	CTCAATATGCCAACAAAATGC	0.473000													15	10					1.52009e-12	2.36459e-12	1	1	0
CFH	3075	broad.mit.edu	37	1	196659293	196659293	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:196659293C>A	ENST00000367429.4	+	9	1500	c.1260C>A	c.(1258-1260)taC>taA	p.Y420*	CFH_ENST00000359637.2_Nonsense_Mutation_p.Y356*|CFH_ENST00000439155.2_Nonsense_Mutation_p.Y420*	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	420	Sushi 7.				complement activation, alternative pathway	extracellular space		p.Y420Y(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATCCTGGCTACGCTCTTCCAA	0.413000													16	56					2.94398e-08	3.97945e-08	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48319189	48319189	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:48319189G>A	ENST00000435803.1	+	18	8422	c.8398G>A	c.(8398-8400)Gac>Aac	p.D2800N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2800					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTATATTTTGACACACCTTT	0.328000													9	33					0	0	1	0	0
RP11-640M9.2	0	broad.mit.edu	37	1	144598686	144598686	+	RNA	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:144598686C>A	ENST00000419820.1	+	0	614																											TTCCAGTGGACTCTCCGAGGT	0.577000													4	20					0.00024832	0.000280793	1	1	0
CUX2	23316	broad.mit.edu	37	12	111760342	111760342	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr12:111760342C>A	ENST00000261726.6	+	18	3038	c.2884C>A	c.(2884-2886)Cag>Aag	p.Q962K		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	962						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCTCTCTGACCAGCTCGGCCA	0.677000													6	12					2.7689e-08	3.7863e-08	1	1	0
KDM1A	23028	broad.mit.edu	37	1	23405646	23405646	+	Silent	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:23405646G>A	ENST00000400181.4	+	17	2135	c.2031G>A	c.(2029-2031)agG>agA	p.R677R	KDM1A_ENST00000542151.1_Silent_p.R677R|KDM1A_ENST00000356634.3_Silent_p.R653R|RP1-184J9.2_ENST00000427154.1_RNA	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	653	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CAGTCCAAAGGATGGGATTTG	0.507000													14	90					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668241	176668241	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:176668241C>T	ENST00000367662.3	+	8	3916	c.2752C>T	c.(2752-2754)Cct>Tct	p.P918S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	918					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCAGGGCCTCCTGATGTGGA	0.542000													19	79					0	0	1	0	0
HIST1H2BG	8339	broad.mit.edu	37	6	26216739	26216739	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr6:26216739C>A	ENST00000244601.3	-	1	133	c.133G>T	c.(133-135)Gtg>Ttg	p.V45L		NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	45					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				TGTTTTAGCACCTTGTACACA	0.527000													40	155					6.34439e-16	1.06282e-15	1	1	0
USP14	9097	broad.mit.edu	37	18	180238	180238	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr18:180238G>A	ENST00000261601.6	+	5	394	c.303G>A	c.(301-303)atG>atA	p.M101I	USP14_ENST00000400266.3_Missense_Mutation_p.M90I|USP14_ENST00000582707.1_Missense_Mutation_p.M66I|USP14_ENST00000383589.2_Missense_Mutation_p.M55I	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	101					regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CCAACTAGATGGAGTTACCAT	0.313000													33	15					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80874881	80874881	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:80874881C>A	ENST00000466387.1	+	22	3326	c.2602C>A	c.(2602-2604)Ctt>Att	p.L868I	CTNNA2_ENST00000402739.4_Missense_Mutation_p.L916I|CTNNA2_ENST00000361291.4_Missense_Mutation_p.L902I|CTNNA2_ENST00000540488.1_Missense_Mutation_p.L823I|CTNNA2_ENST00000496558.1_Missense_Mutation_p.L868I|CTNNA2_ENST00000343114.3_Missense_Mutation_p.L547I|CTNNA2_ENST00000541047.1_Missense_Mutation_p.L868I			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	916					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GAAGAAGCCCCTTGTGAAGAG	0.468000													35	60					1.49673e-21	2.70794e-21	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141709435	141709435	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:141709435C>A	ENST00000389484.3	-	19	3933	c.2962G>T	c.(2962-2964)Gac>Tac	p.D988Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	988	LDL-receptor class A 6.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGCCAGAGTCGCAGTGCCAT	0.453000										TSP Lung(27;0.18)			6	55					5.9392e-07	7.59185e-07	1	1	0
PSG6	5675	broad.mit.edu	37	19	43414963	43414963	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:43414963C>T	ENST00000187910.2	-	3	540	c.475G>A	c.(475-477)Gag>Aag	p.E159K	PSG6_ENST00000402603.4_Missense_Mutation_p.E159K|PSG6_ENST00000292125.2_Missense_Mutation_p.E159K	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TCCATGACCTCCCTGGGGTTT	0.532000													14	176					0	0	1	0	0
ISX	91464	broad.mit.edu	37	22	35480424	35480424	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr22:35480424G>T	ENST00000308700.6	+	3	1382	c.430G>T	c.(430-432)Ggc>Tgc	p.G144C	ISX_ENST00000404699.2_Missense_Mutation_p.G144C	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	144						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GGAGAAGATTGGCAACCTGGG	0.547000													4	14					0.00116845	0.00127231	1	1	0
CCKBR	887	broad.mit.edu	37	11	6292607	6292607	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:6292607T>C	ENST00000525462.1	+	4	1388	c.1385T>C	c.(1384-1386)aTg>aCg	p.M462T	CCKBR_ENST00000334619.2_Missense_Mutation_p.M393T|CCKBR_ENST00000532715.1_Missense_Mutation_p.M309T			P32239	GASR_HUMAN	cholecystokinin B receptor	393					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TACTGCTTCATGCACCGTCGC	0.657000													29	73					0	0	1	0	0
DENND6B	414918	broad.mit.edu	37	22	50752104	50752104	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr22:50752104C>A	ENST00000413817.2	-	15	1324	c.1253G>T	c.(1252-1254)cGg>cTg	p.R418L		NM_001001794.3	NP_001001794.3			DENN/MADD domain containing 6B																		CAGGAGGTGCCGCCGCAGCAG	0.701000													6	3					0.0381472	0.0395601	1	1	0
GPC3	2719	broad.mit.edu	37	X	132887815	132887815	+	Silent	SNP	T	T	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chrX:132887815T>C	ENST00000370818.3	-	3	1171	c.726A>G	c.(724-726)acA>acG	p.T242T	GPC3_ENST00000543339.1_Silent_p.T188T|GPC3_ENST00000394299.2_Silent_p.T242T	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	242						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					GGTGATCAGTTGTGTTGATCA	0.473000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				63	13					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49670254	49670254	+	Silent	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr16:49670254G>T	ENST00000561648.1	-	4	2862	c.2809C>A	c.(2809-2811)Cgg>Agg	p.R937R	ZNF423_ENST00000535559.1_Silent_p.R820R|ZNF423_ENST00000562871.1_Silent_p.R877R|ZNF423_ENST00000563137.2_Silent_p.R877R|ZNF423_ENST00000567169.1_Silent_p.R820R|ZNF423_ENST00000562520.1_Silent_p.R877R|ZNF423_ENST00000262383.2_Silent_p.R937R	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	937					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				AAGAAAGTCCGTGAACAAACG	0.592000													21	16					3.01185e-09	4.31943e-09	1	1	0
CD163	9332	broad.mit.edu	37	12	7639150	7639150	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr12:7639150G>T	ENST00000359156.4	-	10	2605	c.2403C>A	c.(2401-2403)caC>caA	p.H801Q	CD163_ENST00000432237.2_Missense_Mutation_p.H801Q|CD163_ENST00000396620.3_Missense_Mutation_p.H834Q|CD163_ENST00000541972.1_Missense_Mutation_p.H789Q	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	801	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GCCCCCAGCCGTGTGAATGGC	0.483000													21	99					2.39556e-15	3.96786e-15	1	1	0
SNRPN	6638	broad.mit.edu	37	15	25222142	25222142	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr15:25222142G>T	ENST00000444203.2	+	5	1437	c.398G>T	c.(397-399)gGc>gTc	p.G133V	SNRPN_ENST00000390687.4_Missense_Mutation_p.G129V|SNRPN_ENST00000346403.6_Missense_Mutation_p.G129V|SNRPN_ENST00000400098.1_Missense_Mutation_p.G129V|SNRPN_ENST00000400100.1_Missense_Mutation_p.G129V|SNRPN_ENST00000400097.1_Missense_Mutation_p.G129V|SNRPN_ENST00000554227.2_Missense_Mutation_p.G133V|SNRPN_ENST00000577565.1_Missense_Mutation_p.G129V|SNURF_ENST00000338094.6_3'UTR			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	129					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GGATTGGCAGGCCCTGTCCGA	0.592000									Prader-Willi syndrome				9	16					1	1	1	1	0
NYAP2	57624	broad.mit.edu	37	2	226447461	226447461	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:226447461G>T	ENST00000272907.6	+	4	1741	c.1328G>T	c.(1327-1329)gGg>gTg	p.G443V	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	443	Pro-rich.																GTCAGCATGGGGAGGTCCCTG	0.632000													19	19					8.10497e-08	1.07578e-07	1	1	0
PCDH10	57575	broad.mit.edu	37	4	134072734	134072734	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr4:134072734C>A	ENST00000264360.4	+	1	2265	c.1439C>A	c.(1438-1440)gCc>gAc	p.A480D		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	480	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GTGCCTGGCGCCTACATCTAC	0.597000													3	31					0.115264	0.118075	1	1	0
DOCK10	55619	broad.mit.edu	37	2	225717798	225717798	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:225717798T>C	ENST00000409592.3	-	17	2025	c.1912A>G	c.(1912-1914)Atg>Gtg	p.M638V	DOCK10_ENST00000258390.7_Missense_Mutation_p.M644V			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	644							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TGAGCCATCATGTTGAAAGGC	0.323000													16	47					0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55294961	55294961	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:55294961T>C	ENST00000336077.6	+	7	881	c.841T>C	c.(841-843)Tct>Cct	p.S281P	CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.S307P|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.S281P|KIR3DL1_ENST00000538269.1_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	281					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		GGACCAAGAGTCTGCAGGAAA	0.507000													6	106					0	0	1	0	0
ODF1	4956	broad.mit.edu	37	8	103572795	103572795	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr8:103572795G>T	ENST00000285402.3	+	2	592	c.436G>T	c.(436-438)Gga>Tga	p.G146*	ODF1_ENST00000518835.1_Start_Codon_SNP_p.M1I	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	146					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			AGTGAAGGATGGAAAGGTATG	0.468000													45	69					9.45407e-15	1.54847e-14	1	1	0
CDH18	1016	broad.mit.edu	37	5	19520842	19520842	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr5:19520842A>G	ENST00000507958.1	-	12	2426	c.1436T>C	c.(1435-1437)cTg>cCg	p.L479P	CDH18_ENST00000382275.1_Missense_Mutation_p.L479P|CDH18_ENST00000274170.4_Missense_Mutation_p.L479P|CDH18_ENST00000511273.1_Missense_Mutation_p.L479P|CDH18_ENST00000506372.1_Missense_Mutation_p.L479P|CDH18_ENST00000502796.1_Missense_Mutation_p.L479P			Q13634	CAD18_HUMAN	cadherin 18, type 2	479	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ATTGACATCCAGAACTCTAAT	0.408000													31	232					0	0	1	0	0
UGT2A2	574537	broad.mit.edu	37	4	70505078	70505078	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr4:70505078G>T	ENST00000457664.2	-	1	280	c.281C>A	c.(280-282)tCc>tAc	p.S94Y	UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000514019.1_Missense_Mutation_p.S295Y|UGT2A1_ENST00000503640.1_Intron	NM_001105677.2	NP_001099147.2																					CTCAATTAAGGAATCTATATT	0.388000													10	31					0.000673444	0.000740159	1	1	0
AMDHD2	51005	broad.mit.edu	37	16	2571043	2571043	+	Silent	SNP	C	C	T	rs150383216		TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr16:2571043C>T	ENST00000302956.4	+	3	373	c.279C>T	c.(277-279)ctC>ctT	p.L93L	ATP6C_ENST00000569317.1_Silent_p.L46L|AMDHD2_ENST00000293971.6_Silent_p.L93L|AMDHD2_ENST00000413459.3_Silent_p.L93L			Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	93					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						GGGTTGCCCTCGTGGCCCGGA	0.612000													23	70					0	0	1	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140768185	140768185	+	Missense_Mutation	SNP	A	A	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr5:140768185A>C	ENST00000519479.1	+	1	734	c.734A>C	c.(733-735)gAc>gCc	p.D245A	PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAGTCAAGACGTATACAGG	0.522000													5	170					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1057703	1057703	+	Missense_Mutation	SNP	G	G	A	rs140477969		TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr5:1057703G>A	ENST00000264930.5	-	22	2952	c.2909C>T	c.(2908-2910)gCg>gTg	p.A970V		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	970					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CGTAGGCGGCGCTTGGGTCCT	0.632000													54	187					0	0	1	0	0
GTF3C5	9328	broad.mit.edu	37	9	135926348	135926348	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr9:135926348G>T	ENST00000372097.5	+	4	1074	c.751G>T	c.(751-753)Gag>Tag	p.E251*	GTF3C5_ENST00000342018.8_Intron|GTF3C5_ENST00000372099.6_Nonsense_Mutation_p.E242*|GTF3C5_ENST00000372095.5_Nonsense_Mutation_p.E126*|GTF3C5_ENST00000372108.5_Nonsense_Mutation_p.E251*	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	251						transcription factor TFIIIC complex	DNA binding|protein binding			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)		CCGGAAGGTGGAGGAGGAGCT	0.627000													3	10					0.115264	0.118075	1	1	0
CACNA1C	775	broad.mit.edu	37	12	2602407	2602407	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr12:2602407G>T	ENST00000399655.1	+	7	1233	c.968G>T	c.(967-969)gGg>gTg	p.G323V	CACNA1C_ENST00000480911.1_Missense_Mutation_p.G323V|CACNA1C_ENST00000399621.1_Missense_Mutation_p.G323V|CACNA1C_ENST00000399634.1_Missense_Mutation_p.G323V|CACNA1C_ENST00000406454.3_Missense_Mutation_p.G323V|CACNA1C_ENST00000327702.7_Missense_Mutation_p.G323V|CACNA1C_ENST00000399606.1_Missense_Mutation_p.G323V|CACNA1C_ENST00000335762.5_Missense_Mutation_p.G323V|CACNA1C_ENST00000399644.1_Missense_Mutation_p.G323V|CACNA1C_ENST00000399617.1_Missense_Mutation_p.G323V|CACNA1C_ENST00000399603.1_Missense_Mutation_p.G323V|CACNA1C_ENST00000347598.4_Missense_Mutation_p.G323V|CACNA1C_ENST00000402845.3_Missense_Mutation_p.G323V|CACNA1C_ENST00000399637.1_Missense_Mutation_p.G323V|CACNA1C_ENST00000344100.3_Missense_Mutation_p.G323V|CACNA1C_ENST00000399638.1_Missense_Mutation_p.G323V|CACNA1C_ENST00000399595.1_Missense_Mutation_p.G323V|CACNA1C_ENST00000399601.1_Missense_Mutation_p.G323V|CACNA1C_ENST00000399649.1_Missense_Mutation_p.G323V|CACNA1C_ENST00000399641.1_Missense_Mutation_p.G323V|CACNA1C_ENST00000399597.1_Missense_Mutation_p.G323V|CACNA1C_ENST00000399591.1_Missense_Mutation_p.G323V|CACNA1C_ENST00000399629.1_Missense_Mutation_p.G323V	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	323					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ACGGGCCACGGGCGGCAGTGC	0.607000													24	80					2.49675e-24	4.64585e-24	1	1	0
MS4A1	931	broad.mit.edu	37	11	60233393	60233393	+	Splice_Site	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:60233393G>T	ENST00000534668.1	+	5	625		c.e5-1		MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000389939.2_Splice_Site|MS4A1_ENST00000532073.1_Splice_Site|MS4A1_ENST00000345732.4_Splice_Site	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1						B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	CTCCATTTCAGGTCAAAGGAA	0.353000													8	37					1.12685e-05	1.36616e-05	1	1	0
OR13G1	441933	broad.mit.edu	37	1	247836166	247836166	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:247836166G>T	ENST00000359688.2	-	1	199	c.178C>A	c.(178-180)Ctt>Att	p.L60I	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGTGTCAGAAGGAAAACATAC	0.423000													16	20					1.00905e-13	1.61228e-13	1	1	0
NPHS1	4868	broad.mit.edu	37	19	36339557	36339557	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:36339557C>A	ENST00000378910.5	-	9	1151	c.1152G>T	c.(1150-1152)atG>atT	p.M384I	NPHS1_ENST00000353632.6_Missense_Mutation_p.M384I	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	384	Ig-like C2-type 4.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGTCTCCTCCATGGGCAGCA	0.632000													6	17					1.12685e-05	1.36616e-05	1	1	0
GRIN1	2902	broad.mit.edu	37	9	140040201	140040201	+	Silent	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr9:140040201C>A	ENST00000371561.3	+	3	1514	c.417C>A	c.(415-417)cgC>cgA	p.R139R	GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371560.3_Silent_p.R139R|GRIN1_ENST00000371555.4_Silent_p.R139R|GRIN1_ENST00000371559.4_Silent_p.R139R|GRIN1_ENST00000371553.3_Silent_p.R139R|GRIN1_ENST00000371550.4_Silent_p.R139R|GRIN1_ENST00000350902.5_Silent_p.R139R|GRIN1_ENST00000371546.4_Silent_p.R139R|GRIN1_ENST00000315048.3_Silent_p.R139R	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	139					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GCTTCCTGCGCACCGTGCCGC	0.682000													8	40					1.3612e-06	1.70295e-06	1	1	0
AVPR2	554	broad.mit.edu	37	X	153172069	153172069	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chrX:153172069G>C	ENST00000358927.2	+	4	1212	c.1003G>C	c.(1003-1005)Gag>Cag	p.E335Q	AVPR2_ENST00000370049.1_3'UTR|AVPR2_ENST00000337474.5_Missense_Mutation_p.E335Q			P30518	V2R_HUMAN	arginine vasopressin receptor 2	335					activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	CGTGTCCTCAGAGCTGCGAAG	0.632000													3	71					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192921	152192921	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:152192921C>G	ENST00000368801.2	-	3	1259	c.1184G>C	c.(1183-1185)cGt>cCt	p.R395P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	395					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAAGACTGACGTGAGCTGGA	0.592000													6	98					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19181170	19181170	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:19181170T>A	ENST00000375371.3	-	3	815	c.794A>T	c.(793-795)cAg>cTg	p.Q265L	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	265					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TGTGCTCTGCTGCAGCTTGTC	0.617000													13	22					0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110168042	110168042	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:110168042A>T	ENST00000256578.3	+	2	731	c.371A>T	c.(370-372)aAg>aTg	p.K124M	AMPD2_ENST00000342115.4_Missense_Mutation_p.K43M|AMPD2_ENST00000358729.4_Intron|AMPD2_ENST00000528667.1_Missense_Mutation_p.K124M|AMPD2_ENST00000528454.1_Missense_Mutation_p.K6M|AMPD2_ENST00000526301.1_3'UTR	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	124					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGCAAATGCAAGGAGATCGCC	0.682000													42	117					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51909840	51909840	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr6:51909840C>A	ENST00000371117.3	-	25	2914	c.2639G>T	c.(2638-2640)cGt>cTt	p.R880L	PKHD1_ENST00000340994.4_Missense_Mutation_p.R880L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	880					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATATACCACACGCGTGGCTGC	0.463000													7	20					2.17888e-05	2.57783e-05	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103388946	103388946	+	Splice_Site	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:103388946C>A	ENST00000358392.2	-	47	3954		c.e47-1		COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000370096.3_Splice_Site	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTGGCAGACCCTAAGAAAATA	0.318000													6	13					0.248553	0.252416	1	1	0
OR8U1	219417	broad.mit.edu	37	11	56143662	56143662	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:56143662C>G	ENST00000302270.1	+	1	563	c.563C>G	c.(562-564)aCt>aGt	p.T188S		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					CTCAGGCTAACTTGCTCAGAC	0.463000													73	225					0	0	1	0	0
JUN	3725	broad.mit.edu	37	1	59248305	59248305	+	Silent	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:59248305C>A	ENST00000371222.2	-	1	1480	c.438G>T	c.(436-438)gcG>gcT	p.A146A		NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	146					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)	CCGAGGCTACCGCGGGAGCCA	0.716000			A		sarcoma								5	8					0.014758	0.0155794	1	1	0
ERCC6L2	375748	broad.mit.edu	37	9	98669551	98669551	+	Silent	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr9:98669551C>T	ENST00000288985.7	+	4	1124	c.819C>T	c.(817-819)aaC>aaT	p.N273N	ERCC6L2_ENST00000466840.1_3'UTR|ERCC6L2_ENST00000437817.1_Silent_p.N84N	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	273	Helicase ATP-binding.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										ATGAACTTAACAGGTAATGGG	0.299000													13	26					0	0	1	0	0
TNFSF15	9966	broad.mit.edu	37	9	117553073	117553073	+	Silent	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr9:117553073G>A	ENST00000374045.4	-	4	528	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L	TNFSF15_ENST00000374044.1_Silent_p.L62L	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	139					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						GGGATCAGCAGGAATTTGTTG	0.493000													12	21					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60687643	60687643	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:60687643A>G	ENST00000335712.6	-	4	2631	c.2404T>C	c.(2404-2406)Tgt>Cgt	p.C802R	BCL11A_ENST00000358510.4_Missense_Mutation_p.C768R|BCL11A_ENST00000538214.1_Intron|BCL11A_ENST00000356842.4_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	802					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CAAATTTCACATTTGTAAACG	0.438000			T	IGH@	B-CLL								13	29					0	0	1	0	0
LEP	3952	broad.mit.edu	37	7	127894638	127894638	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:127894638A>T	ENST00000308868.4	+	3	377	c.326A>T	c.(325-327)cAc>cTc	p.H109L		NM_000230.2	NP_000221.1	P41159	LEP_HUMAN	leptin	109					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space				endometrium(1)|large_intestine(2)|lung(5)	8						GATCTTCTTCACGTGCTGGCC	0.567000													17	40					0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143961219	143961219	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr8:143961219C>A	ENST00000292427.4	-	1	43	c.11G>T	c.(10-12)aGg>aTg	p.R4M	CYP11B1_ENST00000517471.1_Missense_Mutation_p.R4M|CYP11B1_ENST00000377675.3_Missense_Mutation_p.R4M	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	4					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	TGCCTTTGCCCTGAGTGCCAT	0.617000									Familial Hyperaldosteronism type I				94	156					1.6696e-61	3.33921e-61	1	1	0
TOX	9760	broad.mit.edu	37	8	59764193	59764193	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr8:59764193T>C	ENST00000361421.1	-	4	803	c.583A>G	c.(583-585)Atg>Gtg	p.M195V		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	195						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CTTCCTCCCATATTCAAACCA	0.517000													7	31					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8486072	8486072	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr9:8486072T>A	ENST00000381196.4	-	25	3288	c.2745A>T	c.(2743-2745)gaA>gaT	p.E915D	PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000540109.1_Missense_Mutation_p.E915D|PTPRD_ENST00000360074.4_Missense_Mutation_p.E902D|PTPRD_ENST00000358503.5_Missense_Mutation_p.E893D|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.E915D|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000537002.1_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	915					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTGGTACTTCTTCTGGAATGG	0.498000										TSP Lung(15;0.13)			6	31					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20530694	20530694	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr4:20530694G>C	ENST00000504154.1	+	16	1837	c.1585G>C	c.(1585-1587)Gag>Cag	p.E529Q	SLIT2_ENST00000503837.1_Missense_Mutation_p.E525Q|SLIT2_ENST00000273739.5_Missense_Mutation_p.E533Q|SLIT2_ENST00000503823.1_Missense_Mutation_p.E521Q	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	529	LRRNT 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CAAAATCCCGGAGCACATTCC	0.443000													17	55					0	0	1	0	0
NTNG1	22854	broad.mit.edu	37	1	107867328	107867328	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:107867328A>T	ENST00000370067.1	+	3	1298	c.671A>T	c.(670-672)gAa>gTa	p.E224V	NTNG1_ENST00000370073.2_Missense_Mutation_p.E224V|NTNG1_ENST00000542803.1_Missense_Mutation_p.E224V|NTNG1_ENST00000370061.3_Missense_Mutation_p.E224V|NTNG1_ENST00000370065.1_Missense_Mutation_p.E224V|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370066.1_Missense_Mutation_p.E224V|NTNG1_ENST00000370068.1_Missense_Mutation_p.E224V|NTNG1_ENST00000370074.4_Missense_Mutation_p.E224V|NTNG1_ENST00000370070.2_Missense_Mutation_p.E224V|NTNG1_ENST00000370071.2_Missense_Mutation_p.E224V|NTNG1_ENST00000370072.3_Missense_Mutation_p.E224V			Q9Y2I2	NTNG1_HUMAN	netrin G1	224	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ATCCACTTTGAAATCAAAGAC	0.408000													9	19					0	0	1	0	0
TRAV8-2	28684	broad.mit.edu	37	14	22315257	22315257	+	RNA	SNP	T	T	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr14:22315257T>C	ENST00000390434.3	+	0	420																											GACTCCAGCTTCTCCTGAAGT	0.493000											OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	80					0	0	1	0	0
C12orf66	144577	broad.mit.edu	37	12	64615783	64615783	+	Splice_Site	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr12:64615783C>A	ENST00000311915.8	-	1	262	c.235_splice	c.e1+1	p.G79_splice	C12orf66_ENST00000398055.3_Splice_Site_p.G79_splice|C12orf66_ENST00000540673.1_5'UTR|C12orf66_ENST00000544871.1_Intron			Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	79										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						GCGGAGGTACCTAGTTTCTGC	0.652000													4	6					0.0215528	0.0224699	1	1	0
HKR1	284459	broad.mit.edu	37	19	37854448	37854448	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:37854448G>T	ENST00000591471.1	+	9	2573	c.932G>T	c.(931-933)tGt>tTt	p.C311F	HKR1_ENST00000544914.1_Missense_Mutation_p.C311F|HKR1_ENST00000541583.2_Missense_Mutation_p.C523F|HKR1_ENST00000589392.1_Missense_Mutation_p.C566F|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000392153.3_Missense_Mutation_p.C565F|HKR1_ENST00000324411.4_Missense_Mutation_p.C584F			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	584					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)			TGCAGGGAGTGTGGGCAAGGC	0.532000													11	22					3.07112e-06	3.76212e-06	1	1	0
OR52W1	120787	broad.mit.edu	37	11	6220836	6220836	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:6220836C>A	ENST00000311352.2	+	1	461	c.383C>A	c.(382-384)gCt>gAt	p.A128D		NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGATCGTGCTGCGGCAATA	0.547000													17	33					3.62473e-10	5.34171e-10	1	1	0
CR1L	1379	broad.mit.edu	37	1	207867838	207867838	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:207867838G>A	ENST00000508064.2	+	5	664	c.604G>A	c.(604-606)Gag>Aag	p.E202K	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	202	Sushi 3.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCTTGTGGGTGAGCCCTCCAT	0.483000													44	168					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175304922	175304922	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:175304922C>A	ENST00000367674.1	-	20	4264	c.3556G>T	c.(3556-3558)Ggc>Tgc	p.G1186C	TNR_ENST00000263525.2_Missense_Mutation_p.G1186C	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1186	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCAGTTTGGCCATTCTGCCGC	0.408000													45	47					2.52991e-16	4.26242e-16	1	1	0
KLHL30	377007	broad.mit.edu	37	2	239057702	239057702	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:239057702G>T	ENST00000409223.1	+	7	1501	c.1394G>T	c.(1393-1395)cGc>cTc	p.R465L	KLHL30_ENST00000305959.4_Missense_Mutation_p.R447L			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	465										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TCCTCGCCTCGCTGTGCTGCA	0.652000													7	24					8.12818e-05	9.38973e-05	1	1	0
CDH3	1001	broad.mit.edu	37	16	68713715	68713715	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr16:68713715G>T	ENST00000264012.4	+	7	1249	c.705G>T	c.(703-705)atG>atT	p.M235I	CDH3_ENST00000429102.2_Missense_Mutation_p.M235I|CDH3_ENST00000581171.1_Missense_Mutation_p.M180I	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	235	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CTTCTGTGATGCAGGTGACAG	0.473000													14	39					3.32936e-07	4.28373e-07	1	1	0
MUC16	94025	broad.mit.edu	37	19	9006391	9006391	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:9006391G>C	ENST00000397910.4	-	45	39830	c.39627C>G	c.(39625-39627)agC>agG	p.S13209R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13211	SEA 8.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAACACTGGTGCTCTTGAACA	0.562000													11	91					0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151857490	151857490	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr6:151857490G>T	ENST00000367290.5	+	2	184	c.95G>T	c.(94-96)cGg>cTg	p.R32L	CCDC170_ENST00000239374.7_Missense_Mutation_p.R32L|CCDC170_ENST00000544131.1_3'UTR			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	32																	CCGGTCACGCGGGAGCAGTTA	0.423000													14	42					1.01871e-10	1.51263e-10	1	1	0
GIMAP6	474344	broad.mit.edu	37	7	150324908	150324908	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:150324908C>A	ENST00000328902.5	-	3	994	c.778G>T	c.(778-780)Gag>Tag	p.E260*	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	260							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCACGTCCTCAGAGCCTTGG	0.522000													33	35					2.38352e-08	3.28223e-08	1	1	0
SLC8A3	6547	broad.mit.edu	37	14	70635016	70635016	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr14:70635016C>T	ENST00000381269.2	-	2	877	c.124G>A	c.(124-126)Ggg>Agg	p.G42R	SLC8A3_ENST00000356921.2_Missense_Mutation_p.G42R|SLC8A3_ENST00000357887.3_Missense_Mutation_p.G42R|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G42R|SLC8A3_ENST00000534137.1_Missense_Mutation_p.G42R	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	42					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TTGTTCTGCCCTGTGCTTGGC	0.562000													18	32					0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94770882	94770882	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr14:94770882G>T	ENST00000341584.3	-	5	1237	c.1091C>A	c.(1090-1092)aCt>aAt	p.T364N		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	364					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GGTGACCCCAGTGGAGCCAGC	0.517000													14	23					1.62849e-17	2.80807e-17	1	1	0
LRRC61	65999	broad.mit.edu	37	7	150034263	150034263	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:150034263G>A	ENST00000359623.4	+	3	901	c.313G>A	c.(313-315)Gca>Aca	p.A105T	LRRC61_ENST00000323078.7_Missense_Mutation_p.A105T|LRRC61_ENST00000493307.1_Missense_Mutation_p.A105T	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	105										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TCTCAATGCCGCAGGCAACCT	0.642000													4	32					0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14769250	14769250	+	Silent	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr5:14769250C>A	ENST00000284268.6	-	2	477	c.147G>T	c.(145-147)ctG>ctT	p.L49L		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	49					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CGTAGCTGGCCAGCATCTCGA	0.522000													6	52					5.9392e-07	7.59185e-07	1	1	0
ORC4	5000	broad.mit.edu	37	2	148701024	148701024	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:148701024C>A	ENST00000535373.1	-	11	1262	c.830G>T	c.(829-831)cGg>cTg	p.R277L	ORC4_ENST00000392858.1_Missense_Mutation_p.R277L|ORC4_ENST00000392857.4_Missense_Mutation_p.R277L|ORC4_ENST00000542387.1_Missense_Mutation_p.R60L|ORC4_ENST00000536575.1_Missense_Mutation_p.R193L|ORC4_ENST00000540442.1_Missense_Mutation_p.R203L|ORC4_ENST00000264169.2_Missense_Mutation_p.R277L	NM_001190879.2	NP_001177808.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	277					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						GTGTAATGACCGCAGGTTTTT	0.333000													5	36					0.0215528	0.0224699	1	1	0
GLT6D1	360203	broad.mit.edu	37	9	138516186	138516186	+	Silent	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr9:138516186G>T	ENST00000371763.1	-	5	841	c.588C>A	c.(586-588)gcC>gcA	p.A196A		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	196					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		AATACCACCAGGCGTGGAGCT	0.557000													9	16					6.40141e-05	7.43879e-05	1	1	0
INSRR	3645	broad.mit.edu	37	1	156811930	156811930	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:156811930G>T	ENST00000368195.3	-	19	3767	c.3371C>A	c.(3370-3372)tCc>tAc	p.S1124Y	NTRK1_ENST00000392302.2_Missense_Mutation_p.D23Y	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1124	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAAGTCCTGGGACACCATGCA	0.557000													28	26					1.61788e-16	2.74154e-16	1	1	0
RARS	5917	broad.mit.edu	37	5	167943881	167943881	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr5:167943881C>G	ENST00000231572.3	+	13	1605	c.1551C>G	c.(1549-1551)atC>atG	p.I517M	RARS_ENST00000538719.1_Missense_Mutation_p.I311M	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	517					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		ATGACTACATCTTCTCCTTTG	0.418000													29	97					0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107266778	107266778	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr9:107266778T>C	ENST00000334726.2	+	1	324	c.235T>C	c.(235-237)Tct>Cct	p.S79P		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTCTGCCCTCTCTCCAATGCT	0.507000													15	64					0	0	1	0	0
SLC2A14	144195	broad.mit.edu	37	12	7981387	7981387	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr12:7981387T>C	ENST00000543909.1	-	11	1417	c.658A>G	c.(658-660)Atc>Gtc	p.I220V	SLC2A14_ENST00000535295.1_Missense_Mutation_p.I111V|SLC2A14_ENST00000396589.2_Missense_Mutation_p.I220V|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000431042.2_Missense_Mutation_p.I197V|SLC2A14_ENST00000340749.5_Missense_Mutation_p.I197V|SLC2A14_ENST00000539924.1_Missense_Mutation_p.I235V|SLC2A14_ENST00000542546.1_Missense_Mutation_p.I111V			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	220					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CTTTGCAGGATAGCTGGAAGG	0.453000													11	70					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35544126	35544126	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr8:35544126G>T	ENST00000287272.2	+	6	835	c.815G>T	c.(814-816)cGg>cTg	p.R272L	UNC5D_ENST00000420357.1_Missense_Mutation_p.R272L|UNC5D_ENST00000404895.2_Missense_Mutation_p.R328L|UNC5D_ENST00000416672.1_Missense_Mutation_p.R328L|UNC5D_ENST00000453357.2_Missense_Mutation_p.R323L			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	328	TSP type-1 1.				apoptosis|axon guidance	integral to membrane	receptor activity	p.R323Q(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GAACATTTGCGGATCCGGGAG	0.498000													9	48					2.80697e-09	4.03545e-09	1	1	0
CTC-260E6.6	0	broad.mit.edu	37	19	20370222	20370222	+	RNA	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:20370222C>A	ENST00000593655.1	-	0	199																											TGTGACTGTTCGATAAACTCC	0.413000													7	29					7.48243e-07	9.52309e-07	1	1	0
FAM129C	199786	broad.mit.edu	37	19	17651213	17651213	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:17651213G>T	ENST00000335393.4	+	10	1223	c.1085G>T	c.(1084-1086)gGa>gTa	p.G362V	FAM129C_ENST00000352727.3_Missense_Mutation_p.G362V|FAM129C_ENST00000599164.1_Missense_Mutation_p.G331V|FAM129C_ENST00000599124.1_Missense_Mutation_p.G331V|FAM129C_ENST00000300971.2_Missense_Mutation_p.G362V|FAM129C_ENST00000601861.1_Missense_Mutation_p.G331V|FAM129C_ENST00000595684.1_Missense_Mutation_p.G362V|FAM129C_ENST00000332386.5_Missense_Mutation_p.G362V|FAM129C_ENST00000449408.2_Missense_Mutation_p.G88V|FAM129C_ENST00000600871.1_Missense_Mutation_p.G308V	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	362										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GATATCAGGGGACCGCTCGAG	0.706000													6	21					0.00621372	0.00661896	1	1	0
SCG5	6447	broad.mit.edu	37	15	32976839	32976839	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr15:32976839C>A	ENST00000300175.4	+	4	568	c.458C>A	c.(457-459)cCg>cAg	p.P153Q	SCG5_ENST00000413748.2_Missense_Mutation_p.P152Q|SCG5_ENST00000498069.1_3'UTR|SCG5_ENST00000494364.1_Missense_Mutation_p.P152Q|SCG5_ENST00000497208.1_Missense_Mutation_p.P153Q	NM_001144757.1	NP_001138229.1	P05408	7B2_HUMAN	secretogranin V (7B2 protein)	153					intracellular protein transport|neuropeptide signaling pathway|peptide hormone processing|regulation of hormone secretion	extracellular region|stored secretory granule	enzyme inhibitor activity|GTP binding|unfolded protein binding			lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	6		all_lung(180;7.32e-08)		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)		CTCTTTGATCCGGAACATGAC	0.473000													6	13					1.06961e-07	1.41016e-07	1	1	0
SEL1L3	23231	broad.mit.edu	37	4	25780734	25780734	+	Missense_Mutation	SNP	A	A	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr4:25780734A>C	ENST00000399878.3	-	16	2671	c.2549T>G	c.(2548-2550)cTg>cGg	p.L850R	SEL1L3_ENST00000264868.5_Missense_Mutation_p.L815R|SEL1L3_ENST00000502949.1_Missense_Mutation_p.L697R	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	850						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GAATGTCTCCAGGTTGCCTGT	0.453000													12	66					0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233675975	233675975	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:233675975G>T	ENST00000373566.3	+	18	2183	c.1986G>T	c.(1984-1986)ttG>ttT	p.L662F	GIGYF2_ENST00000409196.3_Missense_Mutation_p.L634F|GIGYF2_ENST00000452341.2_Missense_Mutation_p.L471F|GIGYF2_ENST00000409480.1_Missense_Mutation_p.L662F|GIGYF2_ENST00000409547.1_Missense_Mutation_p.L640F|GIGYF2_ENST00000409451.3_Missense_Mutation_p.L661F|GIGYF2_ENST00000373563.4_Missense_Mutation_p.L640F			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	640	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CACAGGTTTTGGCCCAACAGC	0.428000													14	46					1.99824e-07	2.59374e-07	1	1	0
CYP2A7	1549	broad.mit.edu	37	19	41388100	41388100	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:41388100G>T	ENST00000301146.4	-	1	557	c.16C>A	c.(16-18)Ctg>Atg	p.L6M	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.L6M	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	6						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ACCAGAAGCAGCCCTGAGGCC	0.567000													5	61					0.000157383	0.000179692	1	1	0
CYP4A22	284541	broad.mit.edu	37	1	47611765	47611765	+	Missense_Mutation	SNP	G	G	T	rs150794228	byFrequency	TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:47611765G>T	ENST00000371891.3	+	11	1335	c.1304G>T	c.(1303-1305)cGt>cTt	p.R435L	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.R337L|CYP4A22_ENST00000294337.3_Missense_Mutation_p.R435L|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	435						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GACCCTTCCCGTTTTGCACCG	0.537000													73	248					4.05997e-52	8.09242e-52	1	1	0
WDR36	134430	broad.mit.edu	37	5	110428091	110428091	+	Silent	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr5:110428091G>A	ENST00000506538.2	+	1	678	c.105G>A	c.(103-105)ctG>ctA	p.L35L	WDR36_ENST00000513710.2_Silent_p.L35L|WDR36_ENST00000505303.1_5'UTR	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	35					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TAGACACGCTGAAGGGACTGG	0.632000													30	16					0	0	1	0	0
RFPL2	10739	broad.mit.edu	37	22	32589087	32589087	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr22:32589087C>T	ENST00000400236.3	-	4	1293	c.88G>A	c.(88-90)Gtc>Atc	p.V30I	RFPL2_ENST00000248980.4_Missense_Mutation_p.V59I|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000400237.1_Missense_Mutation_p.V120I|RFPL2_ENST00000248983.4_Missense_Mutation_p.V30I	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	120							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TTGAGGCAGACGGCGCATCCA	0.532000													3	64					0	0	1	0	0
C12orf5	57103	broad.mit.edu	37	12	4461605	4461605	+	Silent	SNP	A	A	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr12:4461605A>T	ENST00000179259.4	+	6	628	c.561A>T	c.(559-561)ccA>ccT	p.P187P		NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	187						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			GCGGTATTCCAGGATTAGCAG	0.423000													36	45					0	0	1	0	0
C9orf89	84270	broad.mit.edu	37	9	95872911	95872911	+	Missense_Mutation	SNP	G	G	T	rs150588284	byFrequency	TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr9:95872911G>T	ENST00000375464.2	+	3	340	c.212G>T	c.(211-213)cGg>cTg	p.R71L	C9orf89_ENST00000488630.1_3'UTR	NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN	chromosome 9 open reading frame 89	71	CARD.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|nucleus	CARD domain binding			endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						CACCTGCAGCGGAGCGGTGAG	0.652000													18	56					8.34094e-07	1.04796e-06	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103444427	103444427	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:103444427G>T	ENST00000358392.2	-	34	3051	c.2734C>A	c.(2734-2736)Cct>Act	p.P912T	COL11A1_ENST00000512756.1_Missense_Mutation_p.P784T|COL11A1_ENST00000353414.4_Missense_Mutation_p.P861T|COL11A1_ENST00000370096.3_Missense_Mutation_p.P900T	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	900	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTGGCCCAGGTTTCCCAGTG	0.418000													32	37					3.38236e-24	6.2739e-24	1	1	0
LRRC4C	57689	broad.mit.edu	37	11	40137471	40137471	+	Silent	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:40137471C>T	ENST00000278198.2	-	2	2335	c.372G>A	c.(370-372)gcG>gcA	p.A124A	LRRC4C_ENST00000527150.1_Silent_p.A124A|LRRC4C_ENST00000528697.1_Silent_p.A124A|LRRC4C_ENST00000530763.1_Silent_p.A124A			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	124					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGTTGAGGTTCGCCAGACCAT	0.433000													4	22					0	0	1	0	0
CUZD1	50624	broad.mit.edu	37	10	124595810	124595810	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr10:124595810C>A	ENST00000368904.1	-	8	1823	c.874G>T	c.(874-876)Gag>Tag	p.E292*	CUZD1_ENST00000545804.1_Nonsense_Mutation_p.E292*|CUZD1_ENST00000392790.1_Nonsense_Mutation_p.E292*			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	292	ZP.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TTAAAAGCCTCTAGGTAGGAT	0.348000													12	12					0.105934	0.109471	1	1	0
ALPK2	115701	broad.mit.edu	37	18	56205108	56205108	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr18:56205108G>T	ENST00000361673.3	-	5	2524	c.2311C>A	c.(2311-2313)Cct>Act	p.P771T	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	771							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ACAGCCACAGGCTCCCTGAAG	0.517000													15	20					2.61681e-11	3.98624e-11	1	1	0
NPHS1	4868	broad.mit.edu	37	19	36333395	36333395	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:36333395T>C	ENST00000378910.5	-	18	2391	c.2392A>G	c.(2392-2394)Acg>Gcg	p.T798A	NPHS1_ENST00000353632.6_Missense_Mutation_p.T798A	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	798	Ig-like C2-type 7.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGCGCCCCGTTGGTCCCCTG	0.622000													7	75					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100092615	100092615	+	Nonsense_Mutation	SNP	A	A	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr9:100092615A>T	ENST00000375202.2	+	32	3324	c.1972A>T	c.(1972-1974)Aaa>Taa	p.K658*	CCDC180_ENST00000357054.1_Nonsense_Mutation_p.K797*|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Nonsense_Mutation_p.K658*|CCDC180_ENST00000411667.2_Nonsense_Mutation_p.K655*|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR					coiled-coil domain containing 180																		AGCACATGAAAAACCCTCCCA	0.463000													7	17					0	0	1	0	0
LCN1	3933	broad.mit.edu	37	9	138416989	138416989	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr9:138416989C>A	ENST00000263598.2	+	6	577	c.517C>A	c.(517-519)Cca>Aca	p.P173T	LCN1_ENST00000371781.3_Missense_Mutation_p.P173T	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	173					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		AACCTGCTCTCCAGGGAGCGA	0.577000													15	37					2.94398e-08	3.97945e-08	1	1	0
F7	2155	broad.mit.edu	37	13	113771857	113771857	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr13:113771857C>A	ENST00000375581.3	+	8	787	c.752C>A	c.(751-753)gCg>gAg	p.A251E	F7_ENST00000541084.1_Missense_Mutation_p.A182E|F7_ENST00000346342.3_Missense_Mutation_p.A229E	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	251	Peptidase S1.		A -> P (in FA7D).|A -> T (in FA7D).		anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GTGGTCTCCGCGGCCCACTGT	0.617000													37	59					1.90571e-15	3.16541e-15	1	1	0
LUZP2	338645	broad.mit.edu	37	11	24784845	24784845	+	Silent	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:24784845C>A	ENST00000533227.1	+	5	416	c.129C>A	c.(127-129)ctC>ctA	p.L43L	LUZP2_ENST00000336930.6_Silent_p.L129L|LUZP2_ENST00000531187.1_3'UTR	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	129						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TCCGAGACCTCCAGAATGAGG	0.284000													10	18					2.68362e-12	4.14165e-12	1	1	0
THOC5	8563	broad.mit.edu	37	22	29908010	29908010	+	Splice_Site	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr22:29908010C>A	ENST00000490103.1	-	18	1919	c.1797_splice	c.e18+1	p.R599_splice	THOC5_ENST00000397872.1_Splice_Site_p.R599_splice|THOC5_ENST00000397873.2_Splice_Site_p.R599_splice|THOC5_ENST00000397871.1_Splice_Site_p.R599_splice	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	599					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGGGTCTTACCCGAATGTTGT	0.572000													9	31					7.48243e-07	9.52309e-07	1	1	0
IMMP2L	83943	broad.mit.edu	37	7	110526703	110526703	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:110526703G>C	ENST00000405709.2	-	5	796	c.354C>G	c.(352-354)atC>atG	p.I118M	IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Missense_Mutation_p.I100M|IMMP2L_ENST00000415362.1_Missense_Mutation_p.I118M|IMMP2L_ENST00000331762.3_Missense_Mutation_p.I118M|IMMP2L_ENST00000452895.1_Missense_Mutation_p.I118M	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	118					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		CTTCAACCCAGATGTGACCAC	0.398000													17	96					0	0	1	0	0
MIR4485	100616263	broad.mit.edu	37	MT	2371	2371	+	RNA	SNP	T	T	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chrM:2371T>C	ENST00000387347.2	+	0	701					NR_039705.1																						CTGAACTGACAATTAACAGCC	0.373000													4	2					0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67066507	67066507	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr8:67066507G>T	ENST00000315962.4	+	9	1835	c.1462G>T	c.(1462-1464)Gca>Tca	p.A488S	TRIM55_ENST00000353317.5_Intron|TRIM55_ENST00000276573.7_Missense_Mutation_p.A488S|TRIM55_ENST00000350034.4_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	488						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GGCAGCAGCCGCAGCGAGTGA	0.567000													16	25					1.67942e-08	2.34004e-08	1	1	0
BMS1P20	96610	broad.mit.edu	37	22	22661272	22661272	+	RNA	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr22:22661272C>T	ENST00000426066.1	+	0	360					NR_027293.1																						CTGGGATGTACGTCTGCGTTG	0.488000													3	43					0	0	1	0	0
HEY2	23493	broad.mit.edu	37	6	126080295	126080295	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr6:126080295T>C	ENST00000368364.3	+	5	558	c.361T>C	c.(361-363)Ttc>Ctc	p.F121L	HEY2_ENST00000368365.1_Missense_Mutation_p.F75L	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	121					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		TGCCATGGACTTCATGAGCAT	0.562000													7	59					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885853	88885853	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr8:88885853G>T	ENST00000319675.3	-	1	443	c.347C>A	c.(346-348)cCg>cAg	p.P116Q		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	116										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGTTTTGTGCGGGTATACCCG	0.547000													13	72					6.31663e-08	8.40311e-08	1	1	0
SLC24A2	25769	broad.mit.edu	37	9	19576964	19576964	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr9:19576964C>A	ENST00000341998.2	-	5	1247	c.1186G>T	c.(1186-1188)Gtg>Ttg	p.V396L	SLC24A2_ENST00000286344.3_Missense_Mutation_p.V379L	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	396					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TTCTCATCCACATGACATTTC	0.517000													30	68					6.97489e-18	1.2098e-17	1	1	0
ADAMTS7	11173	broad.mit.edu	37	15	79058106	79058106	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr15:79058106C>A	ENST00000388820.4	-	19	4357	c.4147G>T	c.(4147-4149)Gcc>Tcc	p.A1383S		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1383					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGGCTGTTGGCGGGGCTGTCC	0.692000													4	9					1	1	1	1	0
ZNFX1	57169	broad.mit.edu	37	20	47887258	47887258	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr20:47887258C>A	ENST00000396105.1	-	3	1337	c.1091G>T	c.(1090-1092)aGc>aTc	p.S364I	ZNFX1_ENST00000371754.4_Missense_Mutation_p.S364I|ZNFX1_ENST00000371752.1_Missense_Mutation_p.S364I	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	364							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GATAGCAGTGCTGTCGTATTT	0.478000													34	87					0.000159656	0.000181934	1	1	0
SYNM	23336	broad.mit.edu	37	15	99669911	99669911	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr15:99669911C>A	ENST00000336292.6	+	5	1463	c.1343C>A	c.(1342-1344)cCa>cAa	p.P448Q	SYNM_ENST00000560674.1_Missense_Mutation_p.P163Q|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Missense_Mutation_p.P448Q	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	449	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CCTGACAGACCAAAAGCCGGA	0.507000													6	19					2.7689e-08	3.7863e-08	1	1	0
MUM1	84939	broad.mit.edu	37	19	1362247	1362247	+	Splice_Site	SNP	A	A	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:1362247A>G	ENST00000311401.5	+	6	1293		c.e6-1		MUM1_ENST00000344663.3_Splice_Site|MUM1_ENST00000415183.3_Splice_Site|MUM1_ENST00000591806.1_Splice_Site			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1						chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATTATTGGCAGAGTGCCAGT	0.438000													6	11					0	0	1	0	0
APOOL	139322	broad.mit.edu	37	X	84329295	84329295	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chrX:84329295G>T	ENST00000373173.2	+	8	703	c.616G>T	c.(616-618)Gaa>Taa	p.E206*		NM_198450.5	NP_940852.3	Q6UXV4	APOOL_HUMAN	apolipoprotein O-like	206						extracellular region				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						ATCCTCTTCCGAAATAGAAGT	0.393000													21	7					2.89027e-11	4.35763e-11	1	1	0
MAN1B1	11253	broad.mit.edu	37	9	139990728	139990728	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr9:139990728C>A	ENST00000371589.4	+	4	578	c.505C>A	c.(505-507)Cag>Aag	p.Q169K	MAN1B1_ENST00000474902.1_5'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	169					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		ACCTCACCTGCAGATTAGACC	0.572000													10	23					6.42651e-13	1.00768e-12	1	1	0
PLCB1	23236	broad.mit.edu	37	20	8698344	8698344	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr20:8698344C>G	ENST00000378641.3	+	14	1837	c.1362C>G	c.(1360-1362)agC>agG	p.S454R	PLCB1_ENST00000338037.6_Missense_Mutation_p.S454R|PLCB1_ENST00000378637.2_Missense_Mutation_p.S454R|PLCB1_ENST00000494924.1_3'UTR	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	454	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTCTTCCAAGCCCTATGGATT	0.408000													45	77					0	0	1	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65721154	65721154	+	RNA	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:65721154C>A	ENST00000532620.1	+	0	1499							Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						GCAGCCTACGCACCCAGAGGG	0.736000													4	25					1	1	1	1	0
ACTN2	88	broad.mit.edu	37	1	236902629	236902629	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:236902629C>T	ENST00000366578.4	+	10	1070	c.904C>T	c.(904-906)Ccc>Tcc	p.P302S	ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000542672.1_Missense_Mutation_p.P302S|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	302					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TCGCACGATCCCCTGGCTGGA	0.532000													61	87					0	0	1	0	0
GNE	10020	broad.mit.edu	37	9	36217419	36217419	+	Silent	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr9:36217419G>A	ENST00000396594.3	-	12	2316	c.2205C>T	c.(2203-2205)ccC>ccT	p.P735P	GNE_ENST00000447283.2_Silent_p.P630P|GNE_ENST00000539208.1_Silent_p.P594P|GNE_ENST00000539815.1_Silent_p.P704P|GNE_ENST00000543356.2_Silent_p.P699P|GNE_ENST00000377902.5_Silent_p.P704P	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	704					cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity	p.P704P(1)|p.P699P(1)|p.P735P(1)		endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			CCAGCAGGGCGGGGTCAACCA	0.557000													6	22					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79175973	79175973	+	Silent	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr14:79175973G>A	ENST00000554719.1	+	4	1007	c.516G>A	c.(514-516)gtG>gtA	p.V172V	RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Silent_p.V172V	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	176	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GGTACCATGTGGACATTCAGC	0.478000													23	69					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858086	9858086	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr16:9858086G>T	ENST00000396573.2	-	14	3624	c.3315C>A	c.(3313-3315)taC>taA	p.Y1105*	GRIN2A_ENST00000330684.3_Nonsense_Mutation_p.Y1105*|GRIN2A_ENST00000404927.2_Nonsense_Mutation_p.Y1105*|GRIN2A_ENST00000535259.1_Nonsense_Mutation_p.Y948*|GRIN2A_ENST00000562109.1_Nonsense_Mutation_p.Y1105*|GRIN2A_ENST00000396575.2_Nonsense_Mutation_p.Y1105*	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1105					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGGTTTTCAGGTAGGTGCGCT	0.468000													24	90					7.68411e-24	1.42084e-23	1	1	0
DCAF5	8816	broad.mit.edu	37	14	69520831	69520831	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr14:69520831C>G	ENST00000341516.5	-	9	2719	c.2572G>C	c.(2572-2574)Gcc>Ccc	p.A858P	DCAF5_ENST00000554215.1_Missense_Mutation_p.A776P|DCAF5_ENST00000557386.1_Missense_Mutation_p.A857P|DCAF5_ENST00000556847.1_Missense_Mutation_p.A776P	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	858						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						GAAGAGTAGGCCACCACCTCC	0.557000													6	32					0	0	1	0	0
TBCE	6905	broad.mit.edu	37	1	235600748	235600748	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:235600748A>T	ENST00000543662.1	+	13	1334	c.1228A>T	c.(1228-1230)Atc>Ttc	p.I410F	TBCE_ENST00000406207.1_Missense_Mutation_p.I359F|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000366601.3_Missense_Mutation_p.I359F			Q15813	TBCE_HUMAN	tubulin folding cofactor E	359					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			ACTACTCATTATCGCCAGCAT	0.463000													26	27					0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6381910	6381910	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr17:6381910C>A	ENST00000262483.8	-	7	821	c.734G>T	c.(733-735)aGa>aTa	p.R245I	ACKR6_ENST00000421306.3_Missense_Mutation_p.R209I	NM_031220.3	NP_112497.2																					CAGGAACTCTCTGTAGACCTG	0.647000													3	17					0.00909568	0.0096539	1	1	0
LCT	3938	broad.mit.edu	37	2	136567006	136567006	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:136567006C>T	ENST00000264162.2	-	8	2921	c.2911G>A	c.(2911-2913)Gtg>Atg	p.V971M		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	971	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.V971L(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TAGGCCTTCACCTTCAAAGCT	0.498000													20	65					0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122787356	122787356	+	Silent	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:122787356G>T	ENST00000194130.2	-	7	708	c.669C>A	c.(667-669)ggC>ggA	p.G223G	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	223						integral to membrane|plasma membrane	sodium:sulfate symporter activity			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)	TGGTTCTCATGCCTGAGTTCT	0.413000													6	14					0.00307968	0.00332266	1	1	0
HIST1H3B	8358	broad.mit.edu	37	6	26031935	26031935	+	Silent	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr6:26031935C>T	ENST00000244661.2	-	1	353	c.354G>A	c.(352-354)gtG>gtA	p.V118V		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	118					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						GCATAATAGTCACTCGCTTAG	0.512000													4	63					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160091019	160091019	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:160091019A>T	ENST00000361216.3	+	3	244	c.155A>T	c.(154-156)aAa>aTa	p.K52I	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.K52I	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	52					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTGGGCCGCAAATACCAAGTG	0.522000													71	228					0	0	1	0	0
ZNF527	84503	broad.mit.edu	37	19	37879792	37879792	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:37879792G>A	ENST00000436120.2	+	5	948	c.841G>A	c.(841-843)Gat>Aat	p.D281N	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAATGTGGTGATGCCTTTAG	0.383000													33	133					0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56349090	56349090	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr17:56349090C>A	ENST00000340482.3	-	10	2228	c.2052G>T	c.(2050-2052)aaG>aaT	p.K684N	MPO_ENST00000225275.3_Missense_Mutation_p.K652N			P05164	PERM_HUMAN	myeloperoxidase	652					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	GGCCTTTGCGCTTCAGAGGCT	0.627000													15	12					6.94344e-10	1.01561e-09	1	1	0
OR51F2	119694	broad.mit.edu	37	11	4843021	4843021	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:4843021C>T	ENST00000322110.5	+	1	471	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCCTTTGATCGTTTTGTGGC	0.463000													60	100					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152408338	152408338	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:152408338C>A	ENST00000427231.2	-	129	20060	c.19858G>T	c.(19858-19860)Gtg>Ttg	p.V6620L	NEB_ENST00000172853.10_Missense_Mutation_p.V4919L|NEB_ENST00000604864.1_Missense_Mutation_p.V6620L|NEB_ENST00000603639.1_Missense_Mutation_p.V6620L|NEB_ENST00000409198.1_Missense_Mutation_p.V4919L|NEB_ENST00000397345.3_Missense_Mutation_p.V6620L	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	4919	SH3.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACACTGTGCACATAGTCATAG	0.483000													11	25					1.08611e-07	1.42552e-07	1	1	0
ARL4D	379	broad.mit.edu	37	17	41477375	41477375	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr17:41477375G>T	ENST00000320033.4	+	2	482	c.275G>T	c.(274-276)cGc>cTc	p.R92L		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	92					protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		TCTTATACCCGCCGGACAGAC	0.647000													20	34					5.35356e-11	8.0099e-11	1	1	0
PABPC3	5042	broad.mit.edu	37	13	25671622	25671622	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr13:25671622C>A	ENST00000281589.3	+	1	1323	c.1286C>A	c.(1285-1287)cCt>cAt	p.P429H		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	429					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AGACCAAGTCCTCGCTGGACT	0.512000													17	152					2.98393e-07	3.85616e-07	1	1	0
MTRR	4552	broad.mit.edu	37	5	7873601	7873601	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr5:7873601C>T	ENST00000264668.2	+	3	356	c.326C>T	c.(325-327)cCg>cTg	p.P109L	MTRR_ENST00000341013.6_Intron|MTRR_ENST00000440940.2_Missense_Mutation_p.P82L|MTRR_ENST00000502509.1_Intron	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	109	Flavodoxin-like.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CAAACACTGCCGGTTGATTTC	0.458000													22	123					0	0	1	0	0
COLQ	8292	broad.mit.edu	37	3	15531057	15531057	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr3:15531057G>A	ENST00000383785.2	-	2	319	c.194C>T	c.(193-195)cCa>cTa	p.P65L	COLQ_ENST00000383781.4_Missense_Mutation_p.P55L|COLQ_ENST00000383786.5_Missense_Mutation_p.P65L|COLQ_ENST00000435459.2_Missense_Mutation_p.P55L|COLQ_ENST00000383788.5_Missense_Mutation_p.P65L|COLQ_ENST00000603808.1_Missense_Mutation_p.P65L|COLQ_ENST00000383787.2_Missense_Mutation_p.P65L			Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	65	PRAD.				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						TCTGAAGAATGGTGGTGGGAA	0.562000													4	27					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87641256	87641256	+	Silent	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr8:87641256G>T	ENST00000320005.5	-	12	1418	c.1371C>A	c.(1369-1371)gcC>gcA	p.A457A		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	457					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CATCCATGCAGGCGCGGAAGT	0.443000													33	164					7.04047e-22	1.28167e-21	1	1	0
TRIM56	81844	broad.mit.edu	37	7	100731715	100731715	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:100731715G>T	ENST00000306085.6	+	3	1419	c.1122G>T	c.(1120-1122)caG>caT	p.Q374H		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	374					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					AGGAGCAGCAGCCCCAGAAGG	0.642000													9	20					0.00621372	0.00661896	1	1	0
MYH8	4626	broad.mit.edu	37	17	10302880	10302880	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr17:10302880G>T	ENST00000403437.2	-	28	3936	c.3842C>A	c.(3841-3843)gCg>gAg	p.A1281E	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1281					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTGCAGGCGCGCTCTCTGTGC	0.473000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				15	41					8.00594e-06	9.74636e-06	1	1	0
A4GNT	51146	broad.mit.edu	37	3	137849858	137849858	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr3:137849858A>T	ENST00000236709.3	-	2	442	c.241T>A	c.(241-243)Tgg>Agg	p.W81R		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	81					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						ACCACAGGCCACTCAGGATAA	0.493000													19	18					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32631704	32631704	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr9:32631704T>C	ENST00000242310.4	-	1	3963	c.3874A>G	c.(3874-3876)Atg>Gtg	p.M1292V		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1292					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTAGTCCTCATATGTCCAATG	0.463000													31	58					0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75861045	75861045	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr13:75861045C>G	ENST00000377636.3	-	21	4126	c.3780G>C	c.(3778-3780)aaG>aaC	p.K1260N	TBC1D4_ENST00000377625.2_Missense_Mutation_p.K1197N|TBC1D4_ENST00000431480.2_Missense_Mutation_p.K1252N|TBC1D4_ENST00000425511.1_Missense_Mutation_p.K424N	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1260						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GCTCCACTGTCTTTTGATAAG	0.463000													10	35					0	0	1	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69421846	69421846	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chrX:69421846C>A	ENST00000333026.3	+	5	679	c.579C>A	c.(577-579)tgC>tgA	p.C193*		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	193					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						CTCTCTTGTGCCGACCAGGAG	0.537000													4	8					1.23904e-05	1.48989e-05	1	1	0
LCE1C	353133	broad.mit.edu	37	1	152777857	152777857	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:152777857C>A	ENST00000368768.1	-	2	148	c.98G>T	c.(97-99)tGt>tTt	p.C33F	LCE1C_ENST00000607093.1_Missense_Mutation_p.C33F	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	33	Pro-rich.				keratinization			p.C33F(1)		NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			cttagggggacactttggggg	0.652000													19	87					8.34094e-07	1.04796e-06	1	1	0
DPPA3	359787	broad.mit.edu	37	12	7867942	7867942	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr12:7867942G>T	ENST00000345088.2	+	2	363	c.246G>T	c.(244-246)agG>agT	p.R82S		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	82						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		TTTACAGCAGGAGAGGAGTAA	0.483000													18	11					2.94398e-08	3.97945e-08	1	1	0
PTGIR	5739	broad.mit.edu	37	19	47127112	47127112	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:47127112G>C	ENST00000291294.2	-	2	504	c.371C>G	c.(370-372)cCc>cGc	p.P124R	PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000596260.1_Missense_Mutation_p.P124R|PTGIR_ENST00000594275.1_Intron	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	124					cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	GTAGAGGTAGGGGTGGCTCAG	0.692000													12	11					0	0	1	0	0
MRC1	4360	broad.mit.edu	37	10	17891714	17891714	+	Missense_Mutation	SNP	G	G	C	rs2478577	byFrequency	TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr10:17891714G>C	ENST00000331429.2	+	7	1298	c.1195G>C	c.(1195-1197)Gca>Cca	p.A399P	MRC1L1_ENST00000457317.1_Missense_Mutation_p.A399P																breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CAGTGACCTCGCAAGTATCCA	0.463000													39	229					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74091788	74091788	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr18:74091788G>A	ENST00000443185.2	-	4	2599	c.2282C>T	c.(2281-2283)cCg>cTg	p.P761L	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	761					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GTAAGGACACGGGTGAACGAC	0.612000													5	10					0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123900899	123900899	+	Silent	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:123900899C>T	ENST00000431524.1	+	1	603	c.570C>T	c.(568-570)gaC>gaT	p.D190D		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CCTGTGCAGACACCTCAGCCA	0.507000													55	119					0	0	1	0	0
CASP14	23581	broad.mit.edu	37	19	15166240	15166240	+	Splice_Site	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:15166240G>T	ENST00000427043.3	+	6	828		c.e6-1		CASP14_ENST00000221740.1_Splice_Site	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase						apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						GGAATTCCCAGGATACATCGC	0.542000													24	49					5.45024e-15	8.97687e-15	1	1	0
SCN8A	6334	broad.mit.edu	37	12	52100473	52100473	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr12:52100473G>T	ENST00000354534.5	+	11	1787	c.1609G>T	c.(1609-1611)Ggg>Tgg	p.G537W	SCN8A_ENST00000545061.1_Missense_Mutation_p.G537W|SCN8A_ENST00000550891.1_Missense_Mutation_p.G537W	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	537					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CAACAGAATAGGGAGGAAATT	0.373000													6	4					0.00116845	0.00127231	1	1	0
GIF	2694	broad.mit.edu	37	11	59599163	59599163	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:59599163G>T	ENST00000541311.1	-	8	1339	c.1105C>A	c.(1105-1107)Cct>Act	p.P369T	GIF_ENST00000257248.2_Missense_Mutation_p.P394T			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	394	Cobalamin binding.				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						TCATTCAAAGGTGTTACACCA	0.358000													31	66					9.39024e-22	1.70415e-21	1	1	0
PSD2	84249	broad.mit.edu	37	5	139218355	139218355	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr5:139218355C>A	ENST00000274710.3	+	13	2171	c.1966C>A	c.(1966-1968)Cag>Aag	p.Q656K		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	656					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCCTCTGCCAGGTACATGT	0.652000													17	19					1.9806e-07	2.58798e-07	1	1	0
LTB4R2	56413	broad.mit.edu	37	14	24780785	24780785	+	Silent	SNP	G	G	T	rs148919542		TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr14:24780785G>T	ENST00000528054.1	+	1	2625	c.1008G>T	c.(1006-1008)acG>acT	p.T336T	LTB4R2_ENST00000533293.1_Silent_p.T305T|LTB4R2_ENST00000543919.1_Silent_p.T305T|LTB4R_ENST00000345363.3_5'UTR			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	336					chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane				endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		GTTTCCTCACGCGGCTCTTCG	0.647000													11	38					1.36491e-13	2.1691e-13	1	1	0
POLR2B	5431	broad.mit.edu	37	4	57891066	57891066	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr4:57891066G>T	ENST00000381227.1	+	23	3392	c.2979G>T	c.(2977-2979)aaG>aaT	p.K993N	POLR2B_ENST00000441246.2_Missense_Mutation_p.K986N|POLR2B_ENST00000431623.2_Missense_Mutation_p.K918N|POLR2B_ENST00000314595.5_Missense_Mutation_p.K993N			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	993					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					CGGCTAACAAGGGTGAAATTG	0.338000													31	59					7.83172e-31	1.50002e-30	1	1	0
CTCF	10664	broad.mit.edu	37	16	67644874	67644874	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr16:67644874G>T	ENST00000264010.4	+	3	583	c.139G>T	c.(139-141)Ggg>Tgg	p.G47W	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	47					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CCAGACGGATGGGGGTGAGGT	0.522000													19	41					6.33239e-15	1.04007e-14	1	1	0
ATAD2	29028	broad.mit.edu	37	8	124361527	124361527	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr8:124361527C>G	ENST00000287394.5	-	14	1911	c.1804G>C	c.(1804-1806)Gag>Cag	p.E602Q	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	602					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ATTCTTACCTCTTTATCAGGC	0.348000													10	58					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69725937	69725937	+	Nonsense_Mutation	SNP	A	A	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr16:69725937A>T	ENST00000349945.1	+	14	3479	c.1927A>T	c.(1927-1929)Aga>Tga	p.R643*	NFAT5_ENST00000393742.2_Nonsense_Mutation_p.R643*|NFAT5_ENST00000432919.1_Nonsense_Mutation_p.R737*|NFAT5_ENST00000566899.1_Nonsense_Mutation_p.R643*|NFAT5_ENST00000567239.1_Nonsense_Mutation_p.R736*|NFAT5_ENST00000354436.2_Nonsense_Mutation_p.R719*	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	719					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AACTCAGTCTAGAGAGATATT	0.463000													25	45					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23902898	23902898	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr14:23902898T>C	ENST00000355349.3	-	3	206	c.44A>G	c.(43-45)tAc>tGc	p.Y15C		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	15	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTTGCGCAGGTAGGGGGCGGC	0.572000													16	14					0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	47000090	47000090	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr10:47000090G>A	ENST00000374314.4	+	1	2165	c.1210G>A	c.(1210-1212)Ggt>Agt	p.G404S	GPRIN2_ENST00000374317.1_Missense_Mutation_p.G404S			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	404										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GGAGGTGCTCGGTGTGGCCAT	0.672000													3	32					0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086160	56086160	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:56086160C>G	ENST00000312711.1	+	1	378	c.378C>G	c.(376-378)atC>atG	p.I126M		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ATGTGGCCATCTGTAACCCTC	0.413000													32	64					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42530157	42530157	+	Silent	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr18:42530157G>T	ENST00000282030.5	+	4	1148	c.852G>T	c.(850-852)ctG>ctT	p.L284L		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	284						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACAAAGATCTGCTCTTGGGAG	0.577000									Schinzel-Giedion syndrome				9	19					2.17888e-05	2.57783e-05	1	1	0
ANKFY1	51479	broad.mit.edu	37	17	4074090	4074090	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr17:4074090G>A	ENST00000341657.4	-	23	3240	c.3205C>T	c.(3205-3207)Cgc>Tgc	p.R1069C	CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Missense_Mutation_p.R1070C|ANKFY1_ENST00000570535.1_Missense_Mutation_p.R1111C	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	1069						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						ACCCCGAGGCGAGCCCCCGAC	0.597000													11	35					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190423851	190423851	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:190423851G>T	ENST00000367462.3	-	2	401	c.170C>A	c.(169-171)tCa>tAa	p.S57*	FAM5C_ENST00000534846.1_Missense_Mutation_p.H19N|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		57						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GTATTCCTGTGAGCGATGGAA	0.468000													9	36					2.17888e-05	2.57783e-05	1	1	0
LRRCC1	85444	broad.mit.edu	37	8	86025304	86025304	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr8:86025304G>A	ENST00000414626.2	+	3	1343	c.454G>A	c.(454-456)Gga>Aga	p.G152R	LRRCC1_ENST00000360375.3_Missense_Mutation_p.G172R			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	172					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GGAGAAAGATGGAGACGATAA	0.323000													27	32					0	0	1	0	0
SCGB1D4	404552	broad.mit.edu	37	11	62065061	62065061	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:62065061A>G	ENST00000358585.1	-	2	178	c.125T>C	c.(124-126)gTa>gCa	p.V42A		NM_206998.1	NP_996881.1	Q6XE38	SG1D4_HUMAN	secretoglobin, family 1D, member 4	42						extracellular region	binding			lung(1)|prostate(1)	2						TTGGAGGTTTACCGCAGCGTC	0.443000													11	103					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51192119	51192119	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:51192119C>T	ENST00000293441.1	-	16	2172	c.2154G>A	c.(2152-2154)atG>atA	p.M718I	SHANK1_ENST00000391813.1_Missense_Mutation_p.M105I|SHANK1_ENST00000359082.3_Missense_Mutation_p.M709I|SHANK1_ENST00000391814.1_Missense_Mutation_p.M718I	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	718	PDZ.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			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)		GGAAGTCTCCCATTCGCAGTC	0.647000													4	3					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116371799	116371799	+	Silent	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:116371799C>T	ENST00000397752.3	+	3	1478	c.1278C>T	c.(1276-1278)cgC>cgT	p.R426R	MET_ENST00000436117.2_Silent_p.R426R|MET_ENST00000495962.1_3'UTR|MET_ENST00000318493.6_Silent_p.R426R	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	426	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CTTTGCAGCGCGTTGACTTAT	0.433000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				13	63					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64374729	64374729	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:64374729G>A	ENST00000265459.6	-	23	5539	c.5078C>T	c.(5077-5079)cCg>cTg	p.P1693L	NRXN2_ENST00000409571.1_Missense_Mutation_p.P1686L|NRXN2_ENST00000301894.2_Missense_Mutation_p.P647L|NRXN2_ENST00000377551.1_Missense_Mutation_p.P1693L|NRXN2_ENST00000377559.3_Missense_Mutation_p.P1623L	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1693					cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GGGGGCAGCCGGGGCCTTCTC	0.607000													8	24					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40955492	40955492	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr5:40955492C>T	ENST00000313164.9	+	10	1456	c.1097C>T	c.(1096-1098)aCc>aTc	p.T366I		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	366	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TGTATAGGAACCCAGAACAAT	0.403000													22	132					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716716	13716716	+	Silent	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr12:13716716G>T	ENST00000279593.3	-	13	3665	c.3456C>A	c.(3454-3456)acC>acA	p.T1152T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1152					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGTAGATGTCGGTCAGGTCTA	0.577000													8	27					5.50884e-06	6.72032e-06	1	1	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077658	32077658	+	RNA	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr16:32077658G>T	ENST00000354689.6	+	0	273				RP11-1166P10.6_ENST00000566806.1_RNA																							CCGAGGACACGGCTGTGTATT	0.547000													66	387					2.43199e-30	4.64289e-30	1	1	0
MAGEB18	286514	broad.mit.edu	37	X	26157186	26157186	+	Silent	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chrX:26157186G>T	ENST00000325250.1	+	2	271	c.84G>T	c.(82-84)acG>acT	p.T28T		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	28							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						TGGGAGCTACGCAGGCCACTG	0.557000													9	5					3.09899e-07	3.99606e-07	1	1	0
PIK3R1	5295	broad.mit.edu	37	5	67576452	67576452	+	Nonsense_Mutation	SNP	T	T	G	rs67190304		TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr5:67576452T>G	ENST00000521381.1	+	6	1347	c.731T>G	c.(730-732)tTa>tGa	p.L244*	PIK3R1_ENST00000396611.1_Nonsense_Mutation_p.L244*|PIK3R1_ENST00000521657.1_Nonsense_Mutation_p.L244*|PIK3R1_ENST00000274335.5_Nonsense_Mutation_p.L244*	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	244	Rho-GAP.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAGTATTTGTTAAAACATTTC	0.383000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			5	48					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25543382	25543382	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr18:25543382G>T	ENST00000269141.3	-	15	2876	c.2453C>A	c.(2452-2454)cCc>cAc	p.P818H	AC015933.2_ENST00000423367.1_RNA|CDH2_ENST00000399380.3_Missense_Mutation_p.P787H	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	818					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CGGATACTGGGGCTCGGCGTG	0.527000													8	11					0.00448238	0.00481835	1	1	0
OR6T1	219874	broad.mit.edu	37	11	123814234	123814234	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:123814234G>T	ENST00000321252.2	-	1	346	c.312C>A	c.(310-312)taC>taA	p.Y104*		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTAGAAAGAAGTAGAGGTAGG	0.512000													4	30					1.23904e-05	1.48989e-05	1	1	0
ST6GALNAC2	10610	broad.mit.edu	37	17	74569353	74569353	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr17:74569353C>A	ENST00000225276.5	-	4	773	c.454G>T	c.(454-456)Gcc>Tcc	p.A152S	ST6GALNAC2_ENST00000586520.1_5'UTR	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	152					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						CCCACCACGGCACACCGGATA	0.602000													15	10					1.67942e-08	2.34004e-08	1	1	0
FNDC7	163479	broad.mit.edu	37	1	109265024	109265024	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:109265024G>T	ENST00000370017.3	+	5	943	c.666G>T	c.(664-666)tgG>tgT	p.W222C	FNDC7_ENST00000271311.2_Missense_Mutation_p.W223C	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	223	Fibronectin type-III 3.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CTTTTTCCTGGGCACGGGCAG	0.468000													9	23					0.000673444	0.000740159	1	1	0
OR5C1	392391	broad.mit.edu	37	9	125552027	125552027	+	Silent	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr9:125552027G>A	ENST00000373680.2	+	1	878	c.816G>A	c.(814-816)ctG>ctA	p.L272L		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						GCTATGCCCTGGACACTGACA	0.582000													17	45					0	0	1	0	0
ANKRD42	338699	broad.mit.edu	37	11	82921358	82921358	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:82921358G>T	ENST00000393389.3	+	4	1279	c.347G>T	c.(346-348)gGa>gTa	p.G116V	ANKRD42_ENST00000260047.6_Missense_Mutation_p.G116V|ANKRD42_ENST00000528722.1_Missense_Mutation_p.G3V|ANKRD42_ENST00000393392.2_Missense_Mutation_p.G88V|ANKRD42_ENST00000526731.1_Missense_Mutation_p.G116V|ANKRD42_ENST00000533342.1_Missense_Mutation_p.G116V|RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000531895.1_Missense_Mutation_p.G116V			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	88										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						ATAATGAATGGAGCAAATCTG	0.388000													19	46					6.44725e-10	9.45383e-10	1	1	0
SMARCAD1	56916	broad.mit.edu	37	4	95194771	95194771	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr4:95194771C>G	ENST00000354268.4	+	12	1649	c.1576C>G	c.(1576-1578)Cta>Gta	p.L526V	SMARCAD1_ENST00000509418.1_Missense_Mutation_p.L96V|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.L526V			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	526	Helicase ATP-binding.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TTTTTAGGGCCTAGGAAAAAC	0.313000													3	7					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141819784	141819784	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:141819784C>G	ENST00000389484.3	-	8	2043	c.1072G>C	c.(1072-1074)Ggg>Cgg	p.G358R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	358					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CGGTTCATCCCATCCATGTCA	0.428000										TSP Lung(27;0.18)			28	29					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	62939619	62939619	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr15:62939619G>T	ENST00000561311.1	+	3	340	c.110G>T	c.(109-111)cGg>cTg	p.R37L	TLN2_ENST00000306829.6_Missense_Mutation_p.R37L			Q9Y4G6	TLN2_HUMAN	talin 2	37					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ATTCGGGAACGGGTGCCTGAG	0.468000													36	83					4.21674e-32	8.10275e-32	1	1	0
ANKIB1	54467	broad.mit.edu	37	7	92027594	92027594	+	Silent	SNP	T	T	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:92027594T>C	ENST00000265742.3	+	20	2977	c.2601T>C	c.(2599-2601)tcT>tcC	p.S867S		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	867							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGCAAGAGTCTGGGCTGGCCC	0.458000													15	18					0	0	1	0	0
TPPP2	122664	broad.mit.edu	37	14	21500233	21500233	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr14:21500233G>T	ENST00000321760.6	+	4	658	c.510G>T	c.(508-510)aaG>aaT	p.K170N	TPPP2_ENST00000530140.2_Missense_Mutation_p.K170N|NDRG2_ENST00000403829.3_Intron	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	170						cytoplasm				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AGAAGACCAAGTAGAGAGGAG	0.517000													8	40					0.000274275	0.000308954	1	1	0
SGSH	6448	broad.mit.edu	37	17	78184803	78184803	+	Silent	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr17:78184803C>A	ENST00000326317.6	-	8	1043	c.957G>T	c.(955-957)acG>acT	p.T319T	SGSH_ENST00000534910.1_Silent_p.T116T	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	319					proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGATGGTGGGCGTGAGGTCTG	0.652000													5	38					0.0293803	0.0305223	1	1	0
KMT2C	58508	broad.mit.edu	37	7	151859569	151859569	+	Missense_Mutation	SNP	G	G	A	rs138747124		TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:151859569G>A	ENST00000355193.2	-	43	11311	c.11093C>T	c.(11092-11094)aCg>aTg	p.T3698M	KMT2C_ENST00000262189.6_Missense_Mutation_p.T3698M					lysine (K)-specific methyltransferase 2C									p.A3700fs*26(2)|p.T3698M(2)									ATTTGCATACGTCTGTTGATT	0.468000													6	251					0	0	1	0	0
AP2A2	161	broad.mit.edu	37	11	970255	970255	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:970255G>A	ENST00000448903.2	+	3	364	c.223G>A	c.(223-225)Gga>Aga	p.G75R	AP2A2_ENST00000332231.5_Missense_Mutation_p.G75R|AP2A2_ENST00000534328.1_Missense_Mutation_p.G75R	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	75	Lipid-binding.				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CATTGACTTTGGACACATGGA	0.483000													20	47					0	0	1	0	0
CCDC127	133957	broad.mit.edu	37	5	205459	205459	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr5:205459C>A	ENST00000296824.3	-	3	868	c.736G>T	c.(736-738)Gaa>Taa	p.E246*		NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	246										breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			TTCTTCAGTTCGACAACGAGT	0.438000													83	47					6.44939e-38	1.25988e-37	1	1	0
LOC100287934	100287934	broad.mit.edu	37	1	745371	745371	+	RNA	DEL	A	A	-	rs146246821		TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:745371delA	ENST00000447500.1	-	0	95																											TTTATTTCATAAGATAGCATT	0.299													2	4	---	---	---	---					
MEX3A	92312	broad.mit.edu	37	1	156046687	156046689	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:156046687_156046689delGAG	ENST00000532414.2	-	2	1238_1240	c.1239_1241delCTC	c.(1237-1242)tct>tc	p.SS413del		NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	413	Poly-Ser.					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					CTTGGCggaagaggaggaggagg	0.744													2	4	---	---	---	---					
ANKRD45	339416	broad.mit.edu	37	1	173616018	173616019	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:173616018_173616019delGA	ENST00000333279.2	-	3	522_523	c.462_463delTC	c.(460-465)tcagfs	p.SQ154fs		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	170										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						CACTCAGTCTGAGAATATCTAG	0.446													106	154	---	---	---	---					
NFASC	23114	broad.mit.edu	37	1	204913465	204913466	+	Frame_Shift_Ins	INS	-	-	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr1:204913465_204913466insT	ENST00000367172.4	+	3	350_351	c.22_23insT	c.(22-24)ctgfs	p.L8fs	NFASC_ENST00000403080.1_Frame_Shift_Ins_p.L8fs|NFASC_ENST00000339876.6_Frame_Shift_Ins_p.L8fs|NFASC_ENST00000401399.1_Frame_Shift_Ins_p.L8fs|NFASC_ENST00000367170.4_Frame_Shift_Ins_p.L8fs|NFASC_ENST00000367169.4_Frame_Shift_Ins_p.L8fs|NFASC_ENST00000338515.6_Frame_Shift_Ins_p.L8fs|NFASC_ENST00000404907.1_Frame_Shift_Ins_p.L8fs|NFASC_ENST00000404076.1_Frame_Shift_Ins_p.L8fs|NFASC_ENST00000338586.6_Frame_Shift_Ins_p.L8fs|NFASC_ENST00000367171.4_Frame_Shift_Ins_p.L8fs|NFASC_ENST00000539706.1_Frame_Shift_Ins_p.L8fs|NFASC_ENST00000513543.1_Frame_Shift_Ins_p.L8fs|NFASC_ENST00000360049.4_Frame_Shift_Ins_p.L8fs			O94856	NFASC_HUMAN	neurofascin	8					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCCACCGCCGCCCTGGGTCCAT	0.619													14	28	---	---	---	---					
LTBP1	4052	broad.mit.edu	37	2	33246135	33246135	+	Frame_Shift_Del	DEL	G	G	-			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:33246135delG	ENST00000404816.2	+	3	1078	c.725delG	c.(724-726)tgfs	p.W242fs	LTBP1_ENST00000354476.3_Frame_Shift_Del_p.W242fs			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	242					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GCTTCCTCGTGGGGCCCTCCT	0.562													23	81	---	---	---	---					
ZNF804A	91752	broad.mit.edu	37	2	185800708	185800708	+	Frame_Shift_Del	DEL	A	A	-			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr2:185800708delA	ENST00000302277.6	+	4	1179	c.585delA	c.(583-585)gcfs	p.A195fs		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	195						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ATTATACAGCAAAAAATAACC	0.388													12	40	---	---	---	---					
HERC5	51191	broad.mit.edu	37	4	89410360	89410363	+	Frame_Shift_Del	DEL	AAGA	AAGA	-			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr4:89410360_89410363delAAGA	ENST00000264350.3	+	16	2159_2162	c.2006_2009delAAGA	c.(2005-2010)gafs	p.EE669fs	HERC5_ENST00000508159.1_Frame_Shift_Del_p.EE307fs	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	669					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GCAATTGAGGAAGAAAGAGAGTCT	0.373													9	79	---	---	---	---					
MTTP	4547	broad.mit.edu	37	4	100515986	100515986	+	Frame_Shift_Del	DEL	G	G	-	rs140859988		TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr4:100515986delG	ENST00000457717.1	+	8	1111	c.855delG	c.(853-855)acfs	p.T285fs	MTTP_ENST00000511045.1_Frame_Shift_Del_p.T312fs|MTTP_ENST00000265517.5_Frame_Shift_Del_p.T285fs|RP11-766F14.1_ENST00000508578.1_RNA	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	285	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	CAAAGTACACGGCCATTCCCA	0.468													22	40	---	---	---	---					
SNX18	112574	broad.mit.edu	37	5	53814025	53814026	+	Frame_Shift_Ins	INS	-	-	C			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr5:53814025_53814026insC	ENST00000343017.6	+	1	437_438	c.243_244insC	c.(241-246)gtccccfs	p.VP81fs	SNX18_ENST00000326277.3_Frame_Shift_Ins_p.VP81fs|SNX18_ENST00000381410.4_Frame_Shift_Ins_p.VP81fs	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	81					cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				ACGCCAATGTGCCCCCCGGGGG	0.782													2	4	---	---	---	---					
LYRM7	90624	broad.mit.edu	37	5	130515787	130515787	+	Splice_Site	DEL	G	G	-			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr5:130515787delG	ENST00000379380.4	+	2	229		c.e2-1		LYRM7_ENST00000507584.1_Splice_Site|LYRM7_ENST00000510516.1_Splice_Site	NM_181705.2	NP_859056.2	Q5U5X0	LYRM7_HUMAN	LYR motif containing 7									p.?(1)		upper_aerodigestive_tract(1)	1		all_cancers(142;0.0377)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTCTTAACAGGTTTTACAGC	0.433													30	24	---	---	---	---					
KIAA1009	22832	broad.mit.edu	37	6	84896233	84896233	+	Frame_Shift_Del	DEL	A	A	-			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr6:84896233delA	ENST00000403245.3	-	12	1332	c.1218delT	c.(1216-1218)ttfs	p.F406fs	KIAA1009_ENST00000257766.4_Frame_Shift_Del_p.F330fs|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	406					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CATTTTTGTCAAAAAAAAGGT	0.358													8	81	---	---	---	---					
PRDM1	639	broad.mit.edu	37	6	106553457	106553457	+	Frame_Shift_Del	DEL	A	A	-			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr6:106553457delA	ENST00000369096.4	+	5	1656	c.1422delA	c.(1420-1422)ggfs	p.G474fs	PRDM1_ENST00000369091.2_Frame_Shift_Del_p.G438fs|PRDM1_ENST00000369089.3_Frame_Shift_Del_p.G340fs	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	474					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CCTCAGATGGAGCCCGGAGGT	0.672			"""D, N, Mis, F, S"""		DLBCL								7	73	---	---	---	---					
GET4	51608	broad.mit.edu	37	7	931930	931933	+	Frame_Shift_Del	DEL	AAAC	AAAC	-	rs150124099		TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:931930_931933delAAAC	ENST00000407192.1	+	5	2979_2982	c.462_465delAAAC	c.(460-465)aafs	p.KN154fs	GET4_ENST00000265857.3_Frame_Shift_Del_p.KN207fs			Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	207					tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding			breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TCTGTTTAAAAAACAAAAGTAGCG	0.564													37	148	---	---	---	---					
NPSR1	387129	broad.mit.edu	37	7	34724296	34724296	+	Splice_Site	DEL	G	G	-			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:34724296delG	ENST00000360581.1	+	2	408	c.280_splice	c.e2+1	p.D94_splice	NPSR1_ENST00000465305.1_Splice_Site_p.V94_splice|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000531252.1_Splice_Site_p.D94_splice|NPSR1_ENST00000381539.3_Splice_Site_p.D94_splice|NPSR1_ENST00000381553.3_Splice_Site_p.D94_splice|NPSR1_ENST00000381542.1_Splice_Site_p.E94_splice|NPSR1_ENST00000359791.1_Splice_Site_p.D94_splice	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	94						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GGCCATCACAGGTAAGTAACT	0.383													14	39	---	---	---	---					
POLR2J4	84820	broad.mit.edu	37	7	44056176	44056177	+	RNA	DEL	CT	CT	-			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:44056176_44056177delCT	ENST00000427076.1	-	0	89					NR_003655.2																						TCCTCCCACCCTGAGTCTAAAC	0.559													5	3	---	---	---	---					
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs149832120	by1000genomes	TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101																											GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457													2	4	---	---	---	---					
PIWIL2	55124	broad.mit.edu	37	8	22137081	22137081	+	Frame_Shift_Del	DEL	G	G	-			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr8:22137081delG	ENST00000356766.6	+	2	330	c.182delG	c.(181-183)agfs	p.R61fs	PIWIL2_ENST00000454009.2_Frame_Shift_Del_p.R61fs|PIWIL2_ENST00000521356.1_Frame_Shift_Del_p.R61fs	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	61					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AGCACACAGAGGGGGCCAGCA	0.542													8	61	---	---	---	---					
OR5L2	26338	broad.mit.edu	37	11	55594697	55594697	+	Translation_Start_Site	DEL	G	G	-			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:55594697delG	ENST00000378397.1	+	0	3					NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TTGGAGACATGGGCAAGGAAA	0.398										HNSCC(27;0.073)			49	118	---	---	---	---					
MS4A6A	64231	broad.mit.edu	37	11	59943069	59943069	+	Frame_Shift_Del	DEL	C	C	-			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr11:59943069delC	ENST00000528851.1	-	5	495	c.355delG	c.(355-357)ttfs	p.V119fs	MS4A6A_ENST00000530839.1_Frame_Shift_Del_p.V119fs|MS4A6A_ENST00000426738.2_Frame_Shift_Del_p.V74fs|MS4A6A_ENST00000529054.1_Frame_Shift_Del_p.V147fs|MS4A6A_ENST00000533023.1_Frame_Shift_Del_p.V55fs|MS4A6A_ENST00000412309.2_Frame_Shift_Del_p.V147fs|MS4A6A_ENST00000323961.3_Frame_Shift_Del_p.V119fs|MS4A6A_ENST00000420732.2_Frame_Shift_Del_p.V119fs			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	119						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGCTTCCAACCAGGCTGCTA	0.443													31	54	---	---	---	---					
NCKAP5L	57701	broad.mit.edu	37	12	50185835	50185836	+	Splice_Site	INS	-	-	T			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr12:50185835_50185836insT	ENST00000335999.6	-	13	3994		c.e13-1			NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like											central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CGGGCAGGGCCTGGGAAAGGAG	0.708													7	6	---	---	---	---					
PCDH17	27253	broad.mit.edu	37	13	58299356	58299356	+	Frame_Shift_Del	DEL	G	G	-			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr13:58299356delG	ENST00000377918.3	+	4	3434	c.3408delG	c.(3406-3408)gafs	p.E1137fs		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1137					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGGATGCAGAGGAAGTTGTGA	0.493													40	296	---	---	---	---					
SERPINB7	8710	broad.mit.edu	37	18	61471695	61471695	+	Frame_Shift_Del	DEL	C	C	-			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr18:61471695delC	ENST00000398019.2	+	8	1294	c.969delC	c.(967-969)cafs	p.H323fs	SERPINB7_ENST00000336429.2_Frame_Shift_Del_p.H323fs|SERPINB7_ENST00000546027.1_Frame_Shift_Del_p.H323fs|SERPINB7_ENST00000540675.1_Frame_Shift_Del_p.H306fs	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	323					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GGATGATGCACAAATCTTACA	0.468													12	8	---	---	---	---					
DNMT1	1786	broad.mit.edu	37	19	10254626	10254626	+	Frame_Shift_Del	DEL	C	C	-			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:10254626delC	ENST00000340748.4	-	28	3119	c.2884delG	c.(2884-2886)agfs	p.E962fs	DNMT1_ENST00000359526.4_Frame_Shift_Del_p.E978fs|DNMT1_ENST00000540357.1_Frame_Shift_Del_p.E962fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	962					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TCCACGGGCTCCTTCCGTGGG	0.567													14	183	---	---	---	---					
CLEC17A	388512	broad.mit.edu	37	19	14694175	14694176	+	In_Frame_Ins	INS	-	-	GGA	rs34295949		TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:14694175_14694176insGGA	ENST00000547437.1	+	2	127_128	c.50_51insGGA	c.(49-51)aga>aGGAga	p.17_17R>RR	CLEC17A_ENST00000397439.2_In_Frame_Ins_p.17_17R>RR|CLEC17A_ENST00000417570.1_In_Frame_Ins_p.17_17R>RR	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	17						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										GAAGGGACCATGGAGGAGGAGG	0.579													2	4	---	---	---	---					
LGALS4	3960	broad.mit.edu	37	19	39299514	39299514	+	Frame_Shift_Del	DEL	C	C	-			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:39299514delC	ENST00000307751.4	-	3	686	c.209delG	c.(208-210)gcfs	p.G70fs	LGALS4_ENST00000597803.1_Intron	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	70	Galectin 1.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CTTGTCCCAGCCGTCAAACCG	0.592													44	29	---	---	---	---					
GLTSCR1	29998	broad.mit.edu	37	19	48197601	48197601	+	Frame_Shift_Del	DEL	A	A	-			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:48197601delA	ENST00000396720.3	+	8	2707	c.2513delA	c.(2512-2514)cafs	p.Q838fs	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	838							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		TTTGTCATCCAAAACCAGCTA	0.711													2	4	---	---	---	---					
SIGLEC5	8778	broad.mit.edu	37	19	52131257	52131257	+	Frame_Shift_Del	DEL	G	G	-			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:52131257delG	ENST00000222107.4	-	5	965	c.827delC	c.(826-828)ctfs	p.P276fs	SIGLEC5_ENST00000429354.3_Frame_Shift_Del_p.P276fs|SIGLEC5_ENST00000534261.2_Frame_Shift_Del_p.P276fs|SIGLEC5_ENST00000570106.2_Frame_Shift_Del_p.P276fs|SIGLEC5_ENST00000599649.1_Frame_Shift_Del_p.P276fs			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	276	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CAGGTGTGCAGGGGGGTTGCT	0.602													20	63	---	---	---	---					
TTYH1	57348	broad.mit.edu	37	19	54942294	54942296	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr19:54942294_54942296delGGA	ENST00000301194.4	+	10	1172_1174	c.1050_1052delGGA	c.(1048-1053)ttg>tt	p.LE350del	TTYH1_ENST00000391739.3_In_Frame_Del_p.G382del|TTYH1_ENST00000376530.3_In_Frame_Del_p.LE350del|TTYH1_ENST00000489425.1_3'UTR|TTYH1_ENST00000376531.3_In_Frame_Del_p.LE350del|AC008746.3_ENST00000457113.1_RNA			Q9H313	TTYH1_HUMAN	tweety family member 1	350					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		TGCTGTCCTTGGAGGAGACTCTG	0.621													12	63	---	---	---	---					
EIF2S2	8894	broad.mit.edu	37	20	32693175	32693175	+	Splice_Site	DEL	T	T	-			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr20:32693175delT	ENST00000374980.2	-	2	413	c.193_splice	c.e2+1	p.K64_splice		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	64						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						ACCACGCACCTTTTTTCCTAG	0.483													7	185	---	---	---	---					
RP5-843L14.1	0	broad.mit.edu	37	20	55162531	55162533	+	RNA	DEL	AGG	AGG	-	rs55743303		TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr20:55162531_55162533delAGG	ENST00000434176.1	+	0	557																											ggggaggattaggaggaggagga	0.483													3	4	---	---	---	---					
BACH1	571	broad.mit.edu	37	21	30699067	30699067	+	Frame_Shift_Del	DEL	C	C	-			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chr21:30699067delC	ENST00000399921.1	+	3	1165	c.922delC	c.(922-924)ctfs	p.P308fs	BACH1_ENST00000286800.3_Frame_Shift_Del_p.P308fs	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	308						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						AGAAGTGACTCCTTTCCCCCA	0.393													33	121	---	---	---	---					
IRS4	8471	broad.mit.edu	37	X	107977851	107977851	+	Frame_Shift_Del	DEL	C	C	-			TCGA-97-7937-01A-11D-2167-08	TCGA-97-7937-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e485f06-af03-4dd7-900d-f1f15293a6a1	ca425b2a-6d19-4c80-ab04-ee76c1d18888	g.chrX:107977851delC	ENST00000372129.2	-	1	1800	c.1724delG	c.(1723-1725)gafs	p.G575fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	575						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						ATCTCCAGGTCCCTGGCCACC	0.617													135	59	---	---	---	---					
