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
TTC37	9652	broad.mit.edu	37	5	94833132	94833132	+	Silent	SNP	T	T	C			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr5:94833132T>C	ENST00000358746.2	-	34	3922	c.3624A>G	c.(3622-3624)caA>caG	p.Q1208Q		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1208							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTGCATTTCGTTGAGCATACT	0.368000													11	22					0	0	1	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26032097	26032097	+	Silent	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr6:26032097C>T	ENST00000244661.2	-	1	191	c.192G>A	c.(190-192)cgG>cgA	p.R64R		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	64					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						ACGGCAGCTTCCGAATCAGCA	0.622000													15	111					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177032852	177032852	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:177032852C>A	ENST00000393643.2	+	2	373	c.121C>A	c.(121-123)Cag>Aag	p.Q41K	WDR17_ENST00000507824.2_Missense_Mutation_p.Q65K|WDR17_ENST00000508596.1_Missense_Mutation_p.Q41K|WDR17_ENST00000280190.4_Missense_Mutation_p.Q65K	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	65										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTATATTTATCAGGTAAAATA	0.343000													9	28					2.74318e-10	3.13506e-10	1	1	0
CLEC4D	338339	broad.mit.edu	37	12	8673786	8673786	+	Silent	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr12:8673786A>G	ENST00000299665.2	+	6	760	c.567A>G	c.(565-567)caA>caG	p.Q189Q		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	189	C-type lectin.				innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					TTTATAACCAAGATAAATGGG	0.368000													6	51					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200978027	200978027	+	Missense_Mutation	SNP	G	G	A	rs140589352	byFrequency	TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:200978027G>A	ENST00000332129.2	-	3	633	c.317C>T	c.(316-318)tCg>tTg	p.S106L	KIF21B_ENST00000422435.2_Missense_Mutation_p.S106L|KIF21B_ENST00000360529.5_Missense_Mutation_p.S106L|KIF21B_ENST00000461742.2_Missense_Mutation_p.S106L	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	106	Kinesin-motor.				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						CTCCTCCTCCGACGTTGCCAT	0.642000													6	101					0	0	1	0	0
SSX2IP	117178	broad.mit.edu	37	1	85135479	85135479	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:85135479T>A	ENST00000437941.2	-	3	582	c.230A>T	c.(229-231)aAt>aTt	p.N77I	SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000370612.4_Missense_Mutation_p.N104I|SSX2IP_ENST00000605755.1_Missense_Mutation_p.N77I|SSX2IP_ENST00000342203.3_Missense_Mutation_p.N104I	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	104					cell adhesion	nucleus|protein complex				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AAGCAGCTCATTCATACAATT	0.393000													14	82					0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41594866	41594866	+	Silent	SNP	T	T	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr19:41594866T>A	ENST00000330436.3	+	2	213	c.213T>A	c.(211-213)atT>atA	p.I71I		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	71					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	TGTTCACCATTCACTTGGGGC	0.632000													32	33					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66191788	66191788	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr11:66191788C>G	ENST00000311034.2	+	7	1603	c.1427C>G	c.(1426-1428)aCc>aGc	p.T476S		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	476					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						AGCAGTGCAACCTTCCCAGAT	0.552000													50	302					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238253474	238253474	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr2:238253474C>A	ENST00000295550.4	-	36	7639	c.7187G>T	c.(7186-7188)tGc>tTc	p.C2396F	COL6A3_ENST00000346358.4_Missense_Mutation_p.C2196F|COL6A3_ENST00000472056.1_Missense_Mutation_p.C1789F|COL6A3_ENST00000353578.4_Missense_Mutation_p.C2190F|COL6A3_ENST00000409809.1_Missense_Mutation_p.C2190F|COL6A3_ENST00000347401.3_Missense_Mutation_p.C2195F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2396	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GAAGACGGGGCACTCCAGGGG	0.498000													29	60					1.16021e-09	1.29238e-09	1	1	0
SBNO2	22904	broad.mit.edu	37	19	1112834	1112834	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr19:1112834A>G	ENST00000361757.3	-	20	2599	c.2362T>C	c.(2362-2364)Ttc>Ctc	p.F788L	SBNO2_ENST00000587024.1_Missense_Mutation_p.F778L|SBNO2_ENST00000438103.2_Missense_Mutation_p.F731L	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	788					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCTCATGAAGCGCTGCTTC	0.701000													2	3					0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79372811	79372811	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr5:79372811G>A	ENST00000350881.2	+	16	2216	c.2026G>A	c.(2026-2028)Gtg>Atg	p.V676M	THBS4_ENST00000511733.1_Missense_Mutation_p.V585M|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	676					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CCCAGACCTGGTGCCCCCTGG	0.587000													66	154					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10969096	10969096	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr21:10969096C>A	ENST00000361285.4	-	7	481	c.152G>T	c.(151-153)cGg>cTg	p.R51L	TPTE_ENST00000342420.5_Intron|TPTE_ENST00000298232.7_Intron|TPTE_ENST00000415664.2_Intron	NM_199261.2	NP_954870.2	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	51					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)		AGGTGACACCCGGGCTGCTCC	0.453000													11	143					6.81908e-15	8.05475e-15	1	1	0
MAP9	79884	broad.mit.edu	37	4	156294557	156294557	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:156294557T>C	ENST00000311277.4	-	4	475	c.212A>G	c.(211-213)aAa>aGa	p.K71R	MAP9_ENST00000379248.2_5'UTR|AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.K71R	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	71					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		ATTCATTTTTTTATTAACTGA	0.254000													8	13					0	0	1	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1605717	1605717	+	Nonsense_Mutation	SNP	G	G	A	rs148201859		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr11:1605717G>A	ENST00000382171.2	-	1	796	c.763C>T	c.(763-765)Caa>Taa	p.Q255*	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	255	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CAGCTGGATTGGCAACAGGAT	0.592000													50	158					0	0	1	0	0
EME2	197342	broad.mit.edu	37	16	1825247	1825247	+	Silent	SNP	C	C	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr16:1825247C>G	ENST00000307394.7	+	5	633	c.633C>G	c.(631-633)ctC>ctG	p.L211L	EME2_ENST00000568449.1_Intron			A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	190					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CAGGTGGGCTCTGGCAGAGGC	0.672000								Direct reversal of damage;Homologous recombination					7	43					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119133117	119133117	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr3:119133117C>A	ENST00000264245.4	+	12	2873	c.2341C>A	c.(2341-2343)Ctc>Atc	p.L781I		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	781	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GTCTCCTCCACTCCCACCTGC	0.557000													48	72					3.86361e-14	4.5333e-14	1	1	0
ZNF787	126208	broad.mit.edu	37	19	56600191	56600191	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr19:56600191G>A	ENST00000270459.3	-	3	468	c.350C>T	c.(349-351)aCg>aTg	p.T117M		NM_001002836.2	NP_001002836.2	Q6DD87	ZN787_HUMAN	zinc finger protein 787	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CTTCTCGCCCGTGTGGATGCG	0.682000													5	8					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93956664	93956664	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr6:93956664G>A	ENST00000369303.4	-	15	2756	c.2572C>T	c.(2572-2574)Ccc>Tcc	p.P858S		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	858	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CAGTCCATGGGTGCTGGTAAA	0.378000													16	28					0	0	1	0	0
CRTAC1	55118	broad.mit.edu	37	10	99683126	99683126	+	Silent	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr10:99683126C>T	ENST00000370597.3	-	4	808	c.453G>A	c.(451-453)aaG>aaA	p.K151K	CRTAC1_ENST00000370591.2_Silent_p.K151K|CRTAC1_ENST00000298819.4_Silent_p.K151K	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	151						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		TATTGCGGAACTTGAACAACT	0.587000													11	46					0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135750260	135750260	+	Silent	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chrX:135750260C>T	ENST00000250617.6	-	22	3464	c.2259G>A	c.(2257-2259)gtG>gtA	p.V753V	ARHGEF6_ENST00000370620.1_Silent_p.V599V|ARHGEF6_ENST00000370622.1_Silent_p.V599V|ARHGEF6_ENST00000535227.1_Silent_p.V626V	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	753					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					AAAGCCTCCGCACCAGCTTTT	0.433000													52	18					0	0	1	0	0
PPAT	5471	broad.mit.edu	37	4	57301515	57301515	+	Splice_Site	SNP	C	C	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:57301515C>A	ENST00000264220.2	-	1	266		c.e1+1			NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase						glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	CTGTTGCTCACCGGTGCTGCA	0.677000													27	56					1.99505e-19	2.42158e-19	1	1	0
MMP15	4324	broad.mit.edu	37	16	58076155	58076155	+	Silent	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr16:58076155C>T	ENST00000219271.3	+	7	1970	c.1185C>T	c.(1183-1185)gtC>gtT	p.V395V		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	395	Hemopexin-like 1.				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						TCTGGCGAGTCCGGCACAACC	0.657000													10	30					0	0	1	0	0
LRIG2	9860	broad.mit.edu	37	1	113657172	113657172	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:113657172C>T	ENST00000361127.4	+	15	2402	c.2204C>T	c.(2203-2205)cCt>cTt	p.P735L	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	735	Ig-like C2-type 3.					cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		GATGATGGGCCTTTGCTGGTG	0.493000													22	74					0	0	1	0	0
LCLAT1	253558	broad.mit.edu	37	2	30756078	30756078	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr2:30756078A>G	ENST00000309052.4	+	4	585	c.376A>G	c.(376-378)Aga>Gga	p.R126G	LCLAT1_ENST00000379509.3_Missense_Mutation_p.R88G|LCLAT1_ENST00000359433.1_Missense_Mutation_p.R126G|LCLAT1_ENST00000540623.1_Missense_Mutation_p.R88G|LCLAT1_ENST00000319406.4_Missense_Mutation_p.R126G|LCLAT1_ENST00000491680.2_3'UTR	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	126					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						CCATCGGACAAGAATGGACTG	0.418000													75	135					0	0	1	0	0
PRAMEF18	391003	broad.mit.edu	37	1	13475069	13475069	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:13475069G>C	ENST00000376126.2	-	3	1059	c.1060C>G	c.(1060-1062)Ctc>Gtc	p.L354V		NM_001099850.1	NP_001093320.1	Q5VWM3	PRA18_HUMAN	PRAME family member 18	354										lung(2)|ovary(1)	3	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;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTAAGAAGAGGGTCTGAAGA	0.547000													78	197					0	0	1	0	0
CMTR1	23070	broad.mit.edu	37	6	37427342	37427342	+	Splice_Site	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr6:37427342G>A	ENST00000373451.4	+	10	1141	c.976_splice	c.e10-1	p.G326_splice		NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN		326					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						ATTCTGACAGGTGAGGGTGGG	0.502000													39	57					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35630239	35630239	+	Silent	SNP	T	T	C			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr13:35630239T>C	ENST00000400445.3	+	7	1599	c.1065T>C	c.(1063-1065)gaT>gaC	p.D355D	NBEA_ENST00000310336.4_Silent_p.D355D|NBEA_ENST00000540320.1_Silent_p.D355D|NBEA_ENST00000379939.2_Silent_p.D355D	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	355						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTTATGGTGATATGGCTTGGC	0.323000													5	44					0	0	1	0	0
PTCHD3P1	387647	broad.mit.edu	37	10	29704286	29704286	+	RNA	SNP	C	C	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr10:29704286C>G	ENST00000427063.2	+	0	88				PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000430295.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000537908.1_RNA	NR_003930.1																						TCTCTTTCAGCCTGCTCTTGA	0.308000													12	33					0	0	1	0	0
S100A7A	338324	broad.mit.edu	37	1	153391748	153391748	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:153391748G>T	ENST00000368729.4	+	3	326	c.269G>T	c.(268-270)aGc>aTc	p.S90I	S100A7A_ENST00000368728.2_Missense_Mutation_p.S90I|S100A7A_ENST00000329256.2_Missense_Mutation_p.S90I	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	90						cytoplasm	calcium ion binding			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACAAGCAGAGCCATGGAGCG	0.527000													8	51					0.000274275	0.000282295	1	1	0
TSHB	7252	broad.mit.edu	37	1	115576008	115576008	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:115576008A>G	ENST00000256592.1	+	2	93	c.25A>G	c.(25-27)Atg>Gtg	p.M9V	TSHB_ENST00000369517.1_Missense_Mutation_p.M9V	NM_000549.3|NM_001277991.1	NP_000540.2|NP_001264920.1	P01222	TSHB_HUMAN	thyroid stimulating hormone, beta	9					anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		TCTGATGTCCATGCTTTTTGG	0.368000													24	52					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228890246	228890246	+	Splice_Site	SNP	T	T	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr2:228890246T>A	ENST00000392056.3	-	5	353		c.e5-2		SPHKAP_ENST00000344657.5_Splice_Site	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing							cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GACCAGTTTCTGTAAAGCAAG	0.343000													19	50					0	0	1	0	0
AKAP8L	26993	broad.mit.edu	37	19	15514303	15514303	+	Silent	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr19:15514303G>A	ENST00000397410.4	-	4	409	c.345C>T	c.(343-345)taC>taT	p.Y115Y	AKAP8L_ENST00000595136.1_5'UTR|AKAP8L_ENST00000595465.1_Intron	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	115						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CACCTGAGCCGTACACGCCTC	0.577000													5	76					0	0	1	0	0
BRAP	8315	broad.mit.edu	37	12	112110580	112110580	+	Splice_Site	SNP	T	T	C			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr12:112110580T>C	ENST00000419234.4	-	5	827		c.e5-2		BRAP_ENST00000539060.1_Intron|BRAP_ENST00000327551.6_Splice_Site	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN	BRCA1 associated protein						MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						CGCATCAGCCTATGTACACCA	0.383000													20	42					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70049284	70049284	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr6:70049284C>A	ENST00000370598.1	+	26	4168	c.3347C>A	c.(3346-3348)gCg>gAg	p.A1116E	BAI3_ENST00000546190.1_Missense_Mutation_p.A80E|BAI3_ENST00000238918.8_Missense_Mutation_p.A322E	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1116					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGGATGTCTGCGGTTCTGGCC	0.443000													55	104					2.14255e-21	2.63698e-21	1	1	0
SEMA3A	10371	broad.mit.edu	37	7	83640336	83640336	+	Splice_Site	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr7:83640336A>G	ENST00000265362.3	-	9	1310		c.e9+1		SEMA3A_ENST00000436949.1_Splice_Site	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A						axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						AAAGTTACTTACCTGGAAGTC	0.303000													12	37					0	0	1	0	0
DMRT3	58524	broad.mit.edu	37	9	990875	990875	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr9:990875C>T	ENST00000190165.2	+	2	1327	c.1289C>T	c.(1288-1290)aCg>aTg	p.T430M		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	430					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)		GCCCGCGCCACGGAAGACCCT	0.552000													17	26					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98205982	98205982	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:98205982T>A	ENST00000370192.3	-	4	387	c.287A>T	c.(286-288)gAt>gTt	p.D96V	DPYD_ENST00000423006.2_Missense_Mutation_p.D59V|DPYD_ENST00000306031.5_Missense_Mutation_p.D96V	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	96	4Fe-4S ferredoxin-type 1.				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TGATTTAATATCAAGATTAGT	0.328000													20	82					0	0	1	0	0
DPEP2	64174	broad.mit.edu	37	16	68026031	68026031	+	Silent	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr16:68026031C>T	ENST00000412757.2	-	5	1121	c.456G>A	c.(454-456)caG>caA	p.Q152Q	DPEP2_ENST00000393847.1_Silent_p.Q152Q|DPEP2_ENST00000572888.1_Silent_p.Q152Q			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	152					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TGAGGTCAATCTGCTCCAGGG	0.582000													29	82					0	0	1	0	0
FGFBP2	83888	broad.mit.edu	37	4	15964361	15964361	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:15964361G>A	ENST00000259989.6	-	1	498	c.392C>T	c.(391-393)tCc>tTc	p.S131F	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	131						extracellular space	growth factor binding			central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						CTTGAGGCTGGAAGTCACCTG	0.647000													26	64					0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126134519	126134519	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr9:126134519C>T	ENST00000373631.3	+	9	2501	c.2500C>T	c.(2500-2502)Cct>Tct	p.P834S	CRB2_ENST00000359999.3_Missense_Mutation_p.P834S|CRB2_ENST00000373629.2_Missense_Mutation_p.P502S	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	834	EGF-like 11.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CTGTACCTGCCCTGCCAATTT	0.622000													23	50					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13072783	13072783	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr18:13072783C>A	ENST00000506447.1	+	29	5458	c.5378C>A	c.(5377-5379)tCt>tAt	p.S1793Y	CEP192_ENST00000325971.8_Missense_Mutation_p.S1197Y|CEP192_ENST00000430049.2_Missense_Mutation_p.S1318Y	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1388										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGAAATAATTCTGCATCTACA	0.343000													31	62					2.81731e-10	3.19901e-10	1	1	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48897056	48897056	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr2:48897056T>C	ENST00000394754.1	+	9	3400	c.3286T>C	c.(3286-3288)Tca>Cca	p.S1096P	STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.S1096P|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.S358P|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.S1096P|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.S1049P|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.S1096P|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.S392P	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		1049					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGACAGTATTTCAAATGAGGA	0.393000													17	56					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	906521	906521	+	Splice_Site	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:906521A>G	ENST00000314167.4	-	3	378		c.e3+1		GAK_ENST00000511163.1_Intron	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase						cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGAAAAGGATACCATGAAGCA	0.507000													16	53					0	0	1	0	0
KDM1A	23028	broad.mit.edu	37	1	23395150	23395150	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:23395150G>A	ENST00000400181.4	+	11	1402	c.1298G>A	c.(1297-1299)gGc>gAc	p.G433D	KDM1A_ENST00000356634.3_Missense_Mutation_p.G409D|KDM1A_ENST00000542151.1_Missense_Mutation_p.G433D|RP1-184J9.2_ENST00000427154.1_RNA	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	409	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						GTGTCCCTTGGCCAGGCATTG	0.368000													10	46					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135310	156135310	+	Missense_Mutation	SNP	T	T	A	rs138139550		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:156135310T>A	ENST00000329476.3	+	2	708	c.219T>A	c.(217-219)caT>caA	p.H73Q	NPY2R_ENST00000506608.1_Missense_Mutation_p.H73Q	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	73					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				TGGTGATCCATGTGGTGATCA	0.438000													5	38					0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56057804	56057804	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr11:56057804C>G	ENST00000313022.2	-	1	762	c.735G>C	c.(733-735)ttG>ttC	p.L245F		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TGGTGACTCCCAAGAGATGAG	0.363000													32	72					0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65867547	65867547	+	Silent	SNP	C	C	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:65867547C>A	ENST00000395325.3	+	15	2197	c.2040C>A	c.(2038-2040)gcC>gcA	p.A680A	DNAJC6_ENST00000371069.4_Silent_p.A737A|DNAJC6_ENST00000263441.7_Silent_p.A667A	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	680	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						ATCCTTTTGCCGACCTTGGGA	0.463000													17	41					6.49762e-13	7.52356e-13	1	1	0
THAP3	90326	broad.mit.edu	37	1	6688666	6688666	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:6688666C>T	ENST00000377627.3	+	2	209	c.182C>T	c.(181-183)cCa>cTa	p.P61L	THAP3_ENST00000307896.6_Missense_Mutation_p.P61L|THAP3_ENST00000054650.4_Missense_Mutation_p.P61L	NM_138350.3	NP_612359.2	Q8WTV1	THAP3_HUMAN	THAP domain containing, apoptosis associated protein 3	61							DNA binding|metal ion binding			breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CACTTCCGGCCAGAGTGCTTC	0.607000													7	37					0	0	1	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113661092	113661092	+	RNA	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr11:113661092C>T	ENST00000393544.2	+	0	1140																											GACTTGATGTCCCCCTTCGAC	0.527000													12	67					0	0	1	0	0
ARFIP1	27236	broad.mit.edu	37	4	153784811	153784811	+	Silent	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:153784811A>G	ENST00000451320.2	+	3	311	c.147A>G	c.(145-147)acA>acG	p.T49T	ARFIP1_ENST00000356064.3_Silent_p.T49T|ARFIP1_ENST00000405727.2_Silent_p.T49T|ARFIP1_ENST00000353617.2_Silent_p.T49T|ARFIP1_ENST00000511289.1_3'UTR|ARFIP1_ENST00000429148.2_Intron			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	49					intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					CCCAAATTACATCTCATGGCT	0.373000													23	47					0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30418934	30418934	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr20:30418934A>C	ENST00000375994.2	+	9	1687	c.1414A>C	c.(1414-1416)Acc>Ccc	p.T472P	MYLK2_ENST00000375985.4_Missense_Mutation_p.T472P|MYLK2_ENST00000468730.1_3'UTR			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	472	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGGGGTGATCACCTACATGCT	0.567000													35	90					0	0	1	0	0
TCN1	6947	broad.mit.edu	37	11	59629133	59629133	+	Silent	SNP	C	C	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr11:59629133C>A	ENST00000257264.3	-	4	527	c.423G>T	c.(421-423)ctG>ctT	p.L141L	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	141					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGTAGTTAGTCAGGGGAGTGC	0.443000													30	72					1.16021e-09	1.29238e-09	1	1	0
CHD9	80205	broad.mit.edu	37	16	53279691	53279691	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr16:53279691C>G	ENST00000566029.1	+	15	3592	c.3383C>G	c.(3382-3384)aCt>aGt	p.T1128S	CHD9_ENST00000398510.3_Missense_Mutation_p.T1128S|CHD9_ENST00000447540.1_Missense_Mutation_p.T1128S|CHD9_ENST00000564845.1_Missense_Mutation_p.T1128S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1128					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GCAGGACAAACTAATGTACCT	0.323000													17	22					0	0	1	0	0
SPATA4	132851	broad.mit.edu	37	4	177113916	177113916	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:177113916C>A	ENST00000515234.1	-	3	1626	c.31G>T	c.(31-33)Gtt>Ttt	p.V11F	SPATA4_ENST00000280191.2_Missense_Mutation_p.V184F			Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	184					apoptosis|spermatogenesis					NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		GACTTCGAAACTGTAGACCTG	0.363000													15	30					0.000308642	0.00031582	1	1	0
NPAP1	23742	broad.mit.edu	37	15	24921910	24921910	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr15:24921910G>T	ENST00000329468.2	+	1	1370	c.896G>T	c.(895-897)gGa>gTa	p.G299V		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CTGATGTCCGGAAAGAGGATG	0.582000													10	74					1.08611e-07	1.17273e-07	1	1	0
EBF3	253738	broad.mit.edu	37	10	131761720	131761720	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr10:131761720A>T	ENST00000368648.3	-	2	274	c.202T>A	c.(202-204)Ttc>Atc	p.F68I	EBF3_ENST00000355311.5_Missense_Mutation_p.F68I	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	68					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		ACGAAGTGGAAGAAATTGGAT	0.592000													13	47					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176631153	176631153	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr5:176631153G>T	ENST00000439151.2	+	4	1141	c.1096G>T	c.(1096-1098)Gtg>Ttg	p.V366L	NSD1_ENST00000361032.4_Intron|NSD1_ENST00000354179.4_Missense_Mutation_p.V97L|NSD1_ENST00000347982.4_Missense_Mutation_p.V97L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	366	PWWP 1.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCAGTACTACGTGGAGGCTTT	0.458000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			44	114					8.86878e-18	1.05467e-17	1	1	0
HEATR1	55127	broad.mit.edu	37	1	236760165	236760165	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:236760165T>A	ENST00000366582.3	-	6	829	c.715A>T	c.(715-717)Atc>Ttc	p.I239F	HEATR1_ENST00000366581.2_Missense_Mutation_p.I239F|HEATR1_ENST00000483073.1_5'UTR	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	239					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGTTTGGCGATGATATTGTCT	0.433000													28	65					0	0	1	0	0
EMCN	51705	broad.mit.edu	37	4	101337095	101337095	+	Silent	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:101337095G>A	ENST00000296420.4	-	10	889	c.711C>T	c.(709-711)agC>agT	p.S237S	EMCN_ENST00000305864.3_Silent_p.S154S|EMCN_ENST00000511970.1_Silent_p.S224S	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	237						extracellular region|integral to membrane|plasma membrane		p.S237S(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		GAAGCTTCACGCTCTCTTTAT	0.323000													6	18					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248367151	248367151	+	Missense_Mutation	SNP	G	G	T	rs145845024		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:248367151G>T	ENST00000456743.1	+	1	820	c.782G>T	c.(781-783)cGg>cTg	p.R261L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATGTACATACGGCCCACATCT	0.502000													26	170					3.01185e-09	3.33387e-09	1	1	0
TRPC1	7220	broad.mit.edu	37	3	142499867	142499867	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr3:142499867A>C	ENST00000273482.6	+	5	1245	c.854A>C	c.(853-855)aAa>aCa	p.K285T	TRPC1_ENST00000476941.1_Missense_Mutation_p.K319T	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	319					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TATAACCAGAAAGAGGTATGA	0.368000													5	64					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228433259	228433259	+	Silent	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:228433259C>T	ENST00000570156.2	+	13	3977	c.3903C>T	c.(3901-3903)agC>agT	p.S1301S	OBSCN_ENST00000422127.1_Silent_p.S1209S|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.S1209S|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	280	Ig-like 13.|Poly-Ser.				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)				TGAGCTCCAGCTCAAAAGTAC	0.627000													12	75					0	0	1	0	0
TNKS	8658	broad.mit.edu	37	8	9627666	9627666	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr8:9627666G>A	ENST00000310430.6	+	26	3817	c.3791G>A	c.(3790-3792)aGc>aAc	p.S1264N	TNKS_ENST00000518281.1_Missense_Mutation_p.S1027N	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1264	PARP catalytic.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CTGCAGTTTAGCACCATGAAA	0.448000													29	38					0	0	1	0	0
FAM172A	83989	broad.mit.edu	37	5	93120106	93120106	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr5:93120106G>A	ENST00000395965.3	-	9	1148	c.1006C>T	c.(1006-1008)Cga>Tga	p.R336*	FAM172A_ENST00000509739.1_Nonsense_Mutation_p.R189*|FAM172A_ENST00000509163.1_Nonsense_Mutation_p.R290*|FAM172A_ENST00000505869.1_Nonsense_Mutation_p.R226*	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	336						endoplasmic reticulum|extracellular region				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						ATCCATTCTCGAATCGTTTTG	0.448000													15	89					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94411877	94411877	+	Missense_Mutation	SNP	C	C	T	rs150683134		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:94411877C>T	ENST00000282020.4	+	12	2204	c.1946C>T	c.(1945-1947)aCg>aTg	p.T649M	GRID2_ENST00000510992.1_Missense_Mutation_p.T554M	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	649					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TCATCTTACACGGCAAACCTC	0.438000													33	62					0	0	1	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43670086	43670086	+	Silent	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr15:43670086A>G	ENST00000564079.1	+	5	666	c.426A>G	c.(424-426)caA>caG	p.Q142Q	TUBGCP4_ENST00000260383.7_Silent_p.Q142Q|TUBGCP4_ENST00000399460.3_Silent_p.Q6Q	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	142					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TAGTAGAACAAATTAAAAGTC	0.313000													21	71					0	0	1	0	0
HEMGN	55363	broad.mit.edu	37	9	100693459	100693459	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr9:100693459C>T	ENST00000259456.3	-	4	361	c.218G>A	c.(217-219)cGa>cAa	p.R73Q		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	73	Necessary for nuclear localization.				cell differentiation|multicellular organismal development			p.R73Q(1)		NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TCTGCCTCTTCGATTTCCTTT	0.413000													18	61					0	0	1	0	0
ACY1	95	broad.mit.edu	37	3	52018113	52018113	+	Silent	SNP	A	A	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr3:52018113A>T	ENST00000458031.2	+	4	534	c.303A>T	c.(301-303)ccA>ccT	p.P101P	ABHD14A-ACY1_ENST00000463937.1_Intron|ACY1_ENST00000476854.1_Silent_p.P11P|ACY1_ENST00000476351.1_Silent_p.P11P|ACY1_ENST00000404366.2_Silent_p.P11P|ACY1_ENST00000494103.1_Silent_p.P11P			Q03154	ACY1_HUMAN	aminoacylase 1	11					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	AGGAGCACCCATCGGTGACGC	0.612000													27	22					0	0	1	0	0
NOVA2	4858	broad.mit.edu	37	19	46444162	46444162	+	Silent	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr19:46444162G>A	ENST00000263257.5	-	4	632	c.438C>T	c.(436-438)atC>atT	p.I146I		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	146	KH 2.					nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		CTCCCTTGCCGATGATCAGGC	0.542000													5	23					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145368468	145368468	+	Silent	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:145368468A>G	ENST00000342960.5	+	84	10481	c.10446A>G	c.(10444-10446)gaA>gaG	p.E3482E	NBPF10_ENST00000369338.1_Silent_p.E598E|NBPF10_ENST00000369339.2_Silent_p.E600E	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3482										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TGGAAGTGGAAGAGCGTGAAG	0.463000													56	407					0	0	1	0	0
RNASEH2C	84153	broad.mit.edu	37	11	65487842	65487842	+	Silent	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr11:65487842C>T	ENST00000308418.4	-	2	407	c.219G>A	c.(217-219)gtG>gtA	p.V73V	RNASEH2C_ENST00000528220.1_5'UTR|RNASEH2C_ENST00000527610.1_Silent_p.V73V	NM_032193.3	NP_115569.2	Q8TDP1	RNH2C_HUMAN	ribonuclease H2, subunit C	73					RNA catabolic process	nucleus|ribonuclease H2 complex				cervix(1)	1						GCGGCACCGCCACCTCCTCTC	0.662000													24	49					0	0	1	0	0
KLC2	64837	broad.mit.edu	37	11	66026136	66026136	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr11:66026136T>G	ENST00000417856.1	+	2	314	c.71T>G	c.(70-72)gTc>gGc	p.V24G	KLC2_ENST00000394078.1_Missense_Mutation_p.V24G|KLC2_ENST00000316924.5_Missense_Mutation_p.V24G|KLC2_ENST00000394066.2_Missense_Mutation_p.V24G|KLC2_ENST00000394067.2_Missense_Mutation_p.V24G|KLC2_ENST00000421552.1_Missense_Mutation_p.V24G	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	24					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						ACCAAGGCTGTCATCCAGGGA	0.657000											OREG0021097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	61					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40702447	40702447	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr12:40702447A>G	ENST00000298910.7	+	29	4196	c.4138A>G	c.(4138-4140)Ata>Gta	p.I1380V		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1380	Roc.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GCCTATCCAAATAAGAGACAA	0.348000													17	53					0	0	1	0	0
SLC26A6	65010	broad.mit.edu	37	3	48667399	48667399	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr3:48667399C>G	ENST00000358747.6	-	12	1622	c.1372G>C	c.(1372-1374)Gtg>Ctg	p.V458L	SLC26A6_ENST00000337000.8_Missense_Mutation_p.V372L|SLC26A6_ENST00000455886.2_Missense_Mutation_p.V443L|SLC26A6_ENST00000383733.3_Missense_Mutation_p.V479L|SLC26A6_ENST00000420764.2_Missense_Mutation_p.V479L|SLC26A6_ENST00000395550.2_Missense_Mutation_p.V479L	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GTGAAGGTCACCAGCCAGATA	0.622000													4	34					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93955066	93955066	+	Silent	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr6:93955066G>A	ENST00000369303.4	-	16	3016	c.2832C>T	c.(2830-2832)ttC>ttT	p.F944F		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	944	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CAGCTGCCGTGAAATTATCTT	0.358000													13	40					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54630594	54630594	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr15:54630594G>T	ENST00000545554.1	+	16	4620	c.4620G>T	c.(4618-4620)atG>atT	p.M1540I	UNC13C_ENST00000537900.1_Missense_Mutation_p.M1538I|UNC13C_ENST00000260323.11_Missense_Mutation_p.M1540I			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1540					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAGCGAGCATGGTGGTGAAGG	0.428000													16	122					2.35188e-11	2.70543e-11	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139164068	139164068	+	Missense_Mutation	SNP	G	G	A	rs148073315	byFrequency	TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr8:139164068G>A	ENST00000395297.1	-	13	2820	c.2650C>T	c.(2650-2652)Cgc>Tgc	p.R884C		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	884								p.R884C(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCTATGACGCGTGGTATTTTT	0.468000										HNSCC(54;0.14)			17	77					0	0	1	0	0
OR5C1	392391	broad.mit.edu	37	9	125551587	125551587	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr9:125551587C>T	ENST00000373680.2	+	1	438	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	126					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						GGCCTATGACCGCTACGTGGC	0.572000													23	123					0	0	1	0	0
PSMB1	5689	broad.mit.edu	37	6	170855255	170855255	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr6:170855255A>G	ENST00000262193.6	-	3	337	c.239T>C	c.(238-240)aTt>aCt	p.I80T	PSMB1_ENST00000462957.1_5'UTR	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1	80					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cell junction|cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)	GCTGCATCCAATGACTGTTTT	0.333000													5	22					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27539507	27539507	+	RNA	SNP	C	C	T	rs7896532	by1000genomes	TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr10:27539507C>T	ENST00000574842.1	+	0	776																											GTTCACGCTCCGTAGGATGAC	0.572000													6	89					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2224590	2224590	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr12:2224590C>A	ENST00000399655.1	+	2	515	c.250C>A	c.(250-252)Cag>Aag	p.Q84K	CACNA1C_ENST00000399621.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.Q84K|CACNA1C_ENST00000480911.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000347598.4_Missense_Mutation_p.Q84K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399606.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399649.1_Missense_Mutation_p.Q84K	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	84			Q -> R (in dbSNP:rs1051345).		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)	GCGGAAGCGGCAGCAATATGG	0.672000													8	26					0.000157383	0.000162938	1	1	0
INF2	64423	broad.mit.edu	37	14	105175994	105175994	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr14:105175994A>T	ENST00000392634.4	+	12	2202	c.2090A>T	c.(2089-2091)aAg>aTg	p.K697M	INF2_ENST00000330634.7_Missense_Mutation_p.K697M	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	697	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		GAGCGAGCCAAGCTGGCCAGC	0.667000													23	56					0	0	1	0	0
CLEC4C	170482	broad.mit.edu	37	12	7899926	7899926	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr12:7899926G>A	ENST00000542353.1	-	2	509	c.19C>T	c.(19-21)Cct>Tct	p.P7S	CLEC4C_ENST00000354629.5_Missense_Mutation_p.P7S|CLEC4C_ENST00000360345.3_Missense_Mutation_p.P7S|CLEC4C_ENST00000540085.1_Missense_Mutation_p.P7S	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	7					innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		CGGTCTTGAGGCTCTTCTTCA	0.488000													28	65					0	0	1	0	0
KIAA1045	23349	broad.mit.edu	37	9	34976163	34976163	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr9:34976163G>T	ENST00000242315.3	+	4	661	c.579G>T	c.(577-579)ttG>ttT	p.L193F	KIAA1045_ENST00000544237.1_Missense_Mutation_p.L193F|KIAA1045_ENST00000476115.2_3'UTR	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	193							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			ACATCAACTTGCTGCTTACTG	0.502000													10	26					0.00829132	0.00838662	1	1	0
ADAMTS17	170691	broad.mit.edu	37	15	100636618	100636618	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr15:100636618C>A	ENST00000268070.4	-	15	2185	c.2080G>T	c.(2080-2082)Ggg>Tgg	p.G694W		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	694	Cys-rich.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TTGCCGTCCCCGCTGCAGACC	0.582000													58	109					4.88482e-21	5.97034e-21	1	1	0
SLC9C2	284525	broad.mit.edu	37	1	173545817	173545817	+	Silent	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:173545817G>A	ENST00000367714.3	-	8	1307	c.885C>T	c.(883-885)atC>atT	p.I295I	SLC9C2_ENST00000466087.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Silent_p.I193I	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	295					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TTACAAGTTCGATCTTCGGTT	0.398000													7	23					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102247631	102247631	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr6:102247631C>T	ENST00000369138.1	+	7	1550	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C	GRIK2_ENST00000369134.4_Missense_Mutation_p.R305C|GRIK2_ENST00000369137.3_Missense_Mutation_p.R354C|GRIK2_ENST00000413795.1_Missense_Mutation_p.R354C|GRIK2_ENST00000421544.1_Missense_Mutation_p.R354C|GRIK2_ENST00000318991.6_Missense_Mutation_p.R354C	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	354					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.R354C(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TAAACCCTGGCGCTTCGGGAC	0.443000													26	49					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791128	95791128	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr10:95791128A>T	ENST00000260766.3	+	2	959	c.325A>T	c.(325-327)Ata>Tta	p.I109L	PLCE1_ENST00000371380.2_Missense_Mutation_p.I109L	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	109					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CTGCAACAACATATTGAGAAA	0.383000													13	66					0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79372810	79372810	+	Silent	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr5:79372810G>A	ENST00000350881.2	+	16	2215	c.2025G>A	c.(2023-2025)ctG>ctA	p.L675L	THBS4_ENST00000511733.1_Silent_p.L584L|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	675					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TCCCAGACCTGGTGCCCCCTG	0.582000													69	159					0	0	1	0	0
CPSF6	11052	broad.mit.edu	37	12	69653876	69653876	+	Silent	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr12:69653876A>G	ENST00000435070.2	+	8	1478	c.1368A>G	c.(1366-1368)aaA>aaG	p.K456K	CPSF6_ENST00000456847.3_Silent_p.K383K|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Silent_p.K493K	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	456					mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			CTTTAATTAAACAATCCAAAG	0.363000													22	40					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153591107	153591107	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chrX:153591107C>T	ENST00000422373.1	-	16	2574	c.2326G>A	c.(2326-2328)Ggc>Agc	p.G776S	FLNA_ENST00000344736.4_Missense_Mutation_p.G776S|FLNA_ENST00000360319.4_Missense_Mutation_p.G776S|FLNA_ENST00000369850.3_Missense_Mutation_p.G776S	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	776					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACTCCGGGGCCGTATACTTTG	0.637000													6	6					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58208589	58208589	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr13:58208589G>C	ENST00000377918.3	+	1	1935	c.1909G>C	c.(1909-1911)Gag>Cag	p.E637Q		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	637	Cadherin 6.				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)		CCACCTGTTTGAGATCGACCC	0.647000													54	116					0	0	1	0	0
TMEM54	113452	broad.mit.edu	37	1	33360449	33360449	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:33360449C>A	ENST00000373463.3	-	6	745	c.626G>T	c.(625-627)cGt>cTt	p.R209L	TMEM54_ENST00000329151.5_Missense_Mutation_p.R156L|TMEM54_ENST00000475208.1_5'UTR	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	209						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CAGCAGGTCACGGCCCTCCAC	0.632000													11	48					2.27111e-07	2.43729e-07	1	1	0
PCDH9	5101	broad.mit.edu	37	13	67802561	67802561	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr13:67802561C>A	ENST00000544246.1	-	2	703	c.12G>T	c.(10-12)agG>agT	p.R4S	PCDH9_ENST00000456367.1_Missense_Mutation_p.R4S|PCDH9_ENST00000377861.3_Missense_Mutation_p.R4S|PCDH9_ENST00000328454.5_Missense_Mutation_p.R4S|PCDH9_ENST00000377865.2_Missense_Mutation_p.R4S	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	4					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GGTAAAAATCCCTCAGGTCCA	0.393000													11	34					6.40141e-05	6.66656e-05	1	1	0
CA3	761	broad.mit.edu	37	8	86358382	86358382	+	Silent	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr8:86358382G>A	ENST00000285381.2	+	6	602	c.519G>A	c.(517-519)gcG>gcA	p.A173A	RP11-317J10.2_ENST00000517697.1_RNA|RP11-317J10.2_ENST00000521761.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	173					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	p.A173A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GCAAGGAGGCGCCCTTCACAA	0.577000													9	21					0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967550	4967550	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr11:4967550C>T	ENST00000380373.2	-	1	806	c.781G>A	c.(781-783)Gtt>Att	p.V261I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGGTGGACAACGGCCAGGTTG	0.473000													30	89					0	0	1	0	0
TMEM117	84216	broad.mit.edu	37	12	44782157	44782157	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr12:44782157G>A	ENST00000266534.3	+	8	1374	c.1247G>A	c.(1246-1248)cGa>cAa	p.R416Q	TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000536799.1_Missense_Mutation_p.R312Q|TMEM117_ENST00000551577.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	416						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TTCTTTGGACGATTTTTGAAA	0.413000													20	71					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20495435	20495435	+	RNA	SNP	G	G	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr15:20495435G>T	ENST00000555186.1	+	0	638					NR_038836.1																						TCTACTCCAGGTTCTAGCCCA	0.388000													6	44					5.9392e-07	6.33515e-07	1	1	0
GTF2E1	2960	broad.mit.edu	37	3	120469647	120469647	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr3:120469647A>G	ENST00000283875.5	+	2	341	c.248A>G	c.(247-249)gAc>gGc	p.D83G		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	83	HTH TFE/IIEalpha-type.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		ACTGCTGCAGACGGGAAAACC	0.393000													45	55					0	0	1	0	0
HBA2	3040	broad.mit.edu	37	16	223474	223474	+	Silent	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr16:223474C>T	ENST00000251595.6	+	3	370	c.304C>T	c.(304-306)Cta>Tta	p.L102L	HBA2_ENST00000397806.1_Silent_p.L70L	NM_000517.4	NP_000508.1	P69905	HBA_HUMAN	hemoglobin, alpha 2	102					hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization	cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding						all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)			Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468)	TGCACAGCTCCTAAGCCACTG	0.687000											OREG0003686	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	11	28					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139904658	139904658	+	Missense_Mutation	SNP	C	C	T	rs150403388	by1000genomes	TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr9:139904658C>T	ENST00000265662.5	-	41	6487	c.6340G>A	c.(6340-6342)Gtc>Atc	p.V2114I	ABCA2_ENST00000371605.3_Missense_Mutation_p.V2113I|ABCA2_ENST00000341511.6_Missense_Mutation_p.V2114I			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2113	ABC transporter 2.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGTCCATTGACGAAGGCCTCG	0.701000													3	15					0	0	1	0	0
INTS5	80789	broad.mit.edu	37	11	62416262	62416262	+	Silent	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr11:62416262G>A	ENST00000330574.2	-	2	1342	c.1290C>T	c.(1288-1290)acC>acT	p.T430T		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	430					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CCTCACGCACGGTGTCTGGCA	0.627000													17	51					0	0	1	0	0
HOOK3	84376	broad.mit.edu	37	8	42868541	42868541	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr8:42868541A>G	ENST00000307602.4	+	21	2214	c.2014A>G	c.(2014-2016)Atg>Gtg	p.M672V		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	672	Required for association with Golgi.|Required for interaction with MSR1.				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			CTGGTACAATATGGTAAGAAA	0.289000			T	RET	papillary thyroid								36	59					0	0	1	0	0
SS18L1	26039	broad.mit.edu	37	20	60738656	60738656	+	Silent	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr20:60738656G>A	ENST00000331758.3	+	6	725	c.699G>A	c.(697-699)gcG>gcA	p.A233A	SS18L1_ENST00000370848.4_Silent_p.A236A|SS18L1_ENST00000421564.1_Silent_p.A233A	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	233	Gln-rich.				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			GGCCCATGGCGCCCTACCGGC	0.716000			T	SSX1	synovial sarcoma								11	12					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21627482	21627482	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chrX:21627482G>T	ENST00000425654.2	+	19	2829	c.2349G>T	c.(2347-2349)caG>caT	p.Q783H	CNKSR2_ENST00000543067.1_Missense_Mutation_p.Q764H|CNKSR2_ENST00000379510.3_Missense_Mutation_p.Q813H|CNKSR2_ENST00000279451.4_Missense_Mutation_p.Q813H	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	813					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TGCCAACTCAGAAATGCCACC	0.542000													33	24					9.04072e-19	1.08984e-18	1	1	0
CHEK2	11200	broad.mit.edu	37	22	29091842	29091842	+	Missense_Mutation	SNP	G	G	A	rs147877722		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr22:29091842G>A	ENST00000544772.1	-	12	1888	c.452C>T	c.(451-453)tCc>tTc	p.S151F	CHEK2_ENST00000348295.3_Missense_Mutation_p.S343F|CHEK2_ENST00000402731.1_Missense_Mutation_p.S343F|CHEK2_ENST00000328354.6_Missense_Mutation_p.S372F|CHEK2_ENST00000382580.2_Missense_Mutation_p.S415F|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.S372F|CHEK2_ENST00000382578.1_Missense_Mutation_p.S281F|CHEK2_ENST00000403642.1_Missense_Mutation_p.S281F|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.S372F	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CAAAATCTTGGAGTGCCCAAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					12	32					0	0	1	0	0
CLEC1B	51266	broad.mit.edu	37	12	10149793	10149793	+	Silent	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr12:10149793A>G	ENST00000428126.2	-	4	419	c.150T>C	c.(148-150)taT>taC	p.Y50Y	CLEC1B_ENST00000298527.6_Silent_p.Y83Y|CLEC1B_ENST00000348658.4_Silent_p.Y50Y			Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	83					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						GTTTTACCACATATTGACAGA	0.403000													10	53					0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122420437	122420437	+	Silent	SNP	A	A	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr3:122420437A>T	ENST00000474629.2	+	6	3302	c.3036A>T	c.(3034-3036)ggA>ggT	p.G1012G		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1012	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGTCCCCGGGAGGCCTGCAGA	0.557000													6	19					0	0	1	0	0
BRSK2	9024	broad.mit.edu	37	11	1464609	1464609	+	Silent	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr11:1464609C>T	ENST00000308219.9	+	7	995	c.609C>T	c.(607-609)ggC>ggT	p.G203G	BRSK2_ENST00000382179.1_Silent_p.G249G|BRSK2_ENST00000526678.1_Silent_p.G203G|BRSK2_ENST00000531197.1_Silent_p.G203G|BRSK2_ENST00000528841.1_Silent_p.G203G|BRSK2_ENST00000544817.1_5'UTR|BRSK2_ENST00000528710.1_Silent_p.G143G|BRSK2_ENST00000308230.5_Silent_p.G203G	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	203	Protein kinase.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GGAGCTGCGGCGTCATCCTGT	0.716000													7	12					0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21557591	21557591	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr13:21557591C>A	ENST00000382592.4	-	5	2659	c.2254G>T	c.(2254-2256)Gac>Tac	p.D752Y	LATS2_ENST00000542899.1_Missense_Mutation_p.D752Y	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	752	Protein kinase.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CTCATCATGTCCCCACCAGGG	0.537000													40	113					1.49673e-21	1.85511e-21	1	1	0
PCDH15	65217	broad.mit.edu	37	10	56089401	56089401	+	Silent	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr10:56089401G>A	ENST00000373965.2	-	7	1054	c.660C>T	c.(658-660)ctC>ctT	p.L220L	PCDH15_ENST00000395445.1_Silent_p.L220L|PCDH15_ENST00000395430.1_Silent_p.L220L|PCDH15_ENST00000320301.6_Silent_p.L220L|PCDH15_ENST00000395432.2_Intron|PCDH15_ENST00000414778.1_Silent_p.L225L|PCDH15_ENST00000395438.1_Silent_p.L220L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373957.3_Silent_p.L198L|PCDH15_ENST00000437009.1_Silent_p.L220L|PCDH15_ENST00000395440.1_Silent_p.L220L|PCDH15_ENST00000395433.1_Silent_p.L198L|PCDH15_ENST00000395442.1_Silent_p.L220L|PCDH15_ENST00000361849.3_Silent_p.L220L|PCDH15_ENST00000373955.1_Silent_p.L220L|PCDH15_ENST00000395446.1_Silent_p.L220L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	220	Cadherin 2.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTCATAGTTGAGCCTCTTCC	0.313000										HNSCC(58;0.16)			22	120					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803247	185803247	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr2:185803247G>T	ENST00000302277.6	+	4	3718	c.3124G>T	c.(3124-3126)Gac>Tac	p.D1042Y		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1042						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						AGAAAACCATGACAAATTCAA	0.443000													31	74					3.57733e-08	3.88648e-08	1	1	0
AGK	55750	broad.mit.edu	37	7	141333736	141333736	+	Silent	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr7:141333736C>T	ENST00000355413.4	+	10	884	c.624C>T	c.(622-624)ggC>ggT	p.G208G	AGK_ENST00000535825.1_Silent_p.G205G|AGK_ENST00000473247.1_Silent_p.G180G	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	208					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					CAATGACCGGCCTTCGATGGG	0.358000													45	115					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160133951	160133951	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:160133951G>A	ENST00000368081.4	+	7	1255	c.784G>A	c.(784-786)Gcc>Acc	p.A262T		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	262					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CACAGGAACCGCCCGGGGTAT	0.527000													10	87					0	0	1	0	0
CEP41	95681	broad.mit.edu	37	7	130038748	130038748	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr7:130038748C>T	ENST00000223208.4	-	11	1376	c.1106G>A	c.(1105-1107)gGc>gAc	p.G369D	CEP41_ENST00000343969.5_Missense_Mutation_p.G297D|CEP41_ENST00000541543.1_Missense_Mutation_p.G281D	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	369					G2/M transition of mitotic cell cycle	centrosome|cytosol											CCAGGGTTTGCCTTGCAGGTG	0.542000													44	223					0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125805547	125805547	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr10:125805547C>G	ENST00000346248.5	-	2	824	c.182G>C	c.(181-183)aGg>aCg	p.R61T	CHST15_ENST00000462406.1_5'UTR|CHST15_ENST00000435907.1_Missense_Mutation_p.R61T|CHST15_ENST00000421115.1_Missense_Mutation_p.R61T	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	61					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CCCTTCAGTCCTCACTTCGAG	0.478000													24	53					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577109	7577109	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr17:7577109A>C	ENST00000420246.2	-	8	961	c.829T>G	c.(829-831)Tgt>Ggt	p.C277G	TP53_ENST00000455263.2_Missense_Mutation_p.C277G|TP53_ENST00000359597.4_Missense_Mutation_p.C277G|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.C277G|TP53_ENST00000445888.2_Missense_Mutation_p.C277G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	277	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; 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.0?(8)|p.C277G(5)|p.?(2)|p.A276fs*69(2)|p.C277fs*29(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.A276fs*68(1)|p.L265_K305del41(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C277R(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTCCCAGGACAGGCACAAACA	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	15					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17414551	17414551	+	Missense_Mutation	SNP	C	C	T	rs143557848		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr11:17414551C>T	ENST00000302539.4	-	39	4861	c.4736G>A	c.(4735-4737)cGt>cAt	p.R1579H	ABCC8_ENST00000389817.3_Missense_Mutation_p.R1578H	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1578					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTTGTCTGCACGGACGAAGGA	0.552000													9	88					0	0	1	0	0
RNF180	285671	broad.mit.edu	37	5	63509890	63509890	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr5:63509890A>T	ENST00000389100.4	+	4	809	c.737A>T	c.(736-738)tAt>tTt	p.Y246F	RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Missense_Mutation_p.Y246F	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	246						integral to membrane|nuclear envelope	zinc ion binding			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		CCCACTTTATATGAAATACAT	0.373000													26	76					0	0	1	0	0
FBXL3	26224	broad.mit.edu	37	13	77581837	77581837	+	Silent	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr13:77581837A>G	ENST00000355619.5	-	5	1054	c.730T>C	c.(730-732)Ttg>Ctg	p.L244L	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	244					regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TCAGAAGACAATGCAAGTAAC	0.403000													26	52					0	0	1	0	0
ROPN1	54763	broad.mit.edu	37	3	123689003	123689003	+	Missense_Mutation	SNP	G	G	A	rs140868038		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr3:123689003G>A	ENST00000184183.4	-	6	798	c.458C>T	c.(457-459)tCg>tTg	p.S153L	ROPN1_ENST00000405845.3_Missense_Mutation_p.S153L	NM_017578.2	NP_060048.2	Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1	153					signal transduction		cAMP-dependent protein kinase regulator activity	p.S153L(1)		lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		GATCCGGGGCGACCCACCATT	0.433000													8	90					0	0	1	0	0
ANKZF1	55139	broad.mit.edu	37	2	220099691	220099691	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr2:220099691C>A	ENST00000323348.5	+	10	1522	c.1348C>A	c.(1348-1350)Cag>Aag	p.Q450K	ANKZF1_ENST00000410034.3_Missense_Mutation_p.Q450K|ANKZF1_ENST00000409849.1_Missense_Mutation_p.Q240K	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	450						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGCCGAGACCAGGAGGCTGG	0.542000													9	36					2.17888e-05	2.28263e-05	1	1	0
LRRK2	120892	broad.mit.edu	37	12	40702283	40702283	+	Missense_Mutation	SNP	G	G	A	rs72546338	byFrequency	TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr12:40702283G>A	ENST00000298910.7	+	29	4032	c.3974G>A	c.(3973-3975)cGa>cAa	p.R1325Q		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1325					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTTCAACAGCGATTAAAAAAG	0.318000													5	30					0	0	1	0	0
CHMP2B	25978	broad.mit.edu	37	3	87289861	87289861	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr3:87289861A>T	ENST00000263780.4	+	2	285	c.47A>T	c.(46-48)gAa>gTa	p.E16V	CHMP2B_ENST00000471660.1_Intron|CHMP2B_ENST00000494980.1_Missense_Mutation_p.E16V|CHMP2B_ENST00000472024.1_3'UTR	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	16					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GTAATAAAGGAACAGAATCGA	0.328000													30	36					0	0	1	0	0
OR6C68	403284	broad.mit.edu	37	12	55886852	55886852	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr12:55886852C>T	ENST00000379662.1	+	1	706	c.706C>T	c.(706-708)Caa>Taa	p.Q236*	OR6C68_ENST00000548615.1_Nonsense_Mutation_p.Q231*|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA			A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						TTCTGTTCAACAAAAGAAAAA	0.353000													10	39					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30732114	30732114	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr16:30732114C>G	ENST00000262518.4	+	20	3453	c.3068C>G	c.(3067-3069)cCa>cGa	p.P1023R	SRCAP_ENST00000344771.4_Missense_Mutation_p.P1023R|SRCAP_ENST00000395059.2_Missense_Mutation_p.P1023R	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1023	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGCCCTGTCCCAGTTCGACCT	0.612000													42	69					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179434641	179434641	+	Silent	SNP	T	T	C			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr2:179434641T>C	ENST00000589042.1	-	326	76442	c.76218A>G	c.(76216-76218)ccA>ccG	p.P25406P	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.P23765P|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.P16341P|TTN_ENST00000359218.5_Silent_p.P16466P|TTN_ENST00000342992.6_Silent_p.P22838P|TTN_ENST00000342175.6_Silent_p.P16533P|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23765	Fibronectin type-III 84.						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)			TTGGGGGTCCTGGTTTATAAA	0.423000													10	39					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113563056	113563056	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr8:113563056G>A	ENST00000297405.5	-	27	4652	c.4408C>T	c.(4408-4410)Cga>Tga	p.R1470*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.R1366*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.R1430*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.R1470*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1470	CUB 8.					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						TCCCAGACTCGGAGTATATCA	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	43					0	0	1	0	0
BARD1	580	broad.mit.edu	37	2	215593641	215593641	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr2:215593641C>T	ENST00000260947.4	-	11	2227	c.2093G>A	c.(2092-2094)gGt>gAt	p.G698D	BARD1_ENST00000432456.1_Missense_Mutation_p.G69D|BARD1_ENST00000449967.2_Missense_Mutation_p.V553M	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	698	BRCT 2.				cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTGGCCCCCACCTGCAGTGAC	0.488000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				11	43					0	0	1	0	0
CRYBA4	1413	broad.mit.edu	37	22	27019213	27019213	+	Missense_Mutation	SNP	G	G	A	rs148346157		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr22:27019213G>A	ENST00000354760.3	+	3	90	c.55G>A	c.(55-57)Gag>Aag	p.E19K	CRYBA4_ENST00000466315.1_Intron	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	19	Beta/gamma crystallin 'Greek key' 1.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GGTGTGGGATGAGGACGGCTT	0.607000													6	113					0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518299	108518299	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr13:108518299A>C	ENST00000375915.2	-	1	784	c.646T>G	c.(646-648)Tgg>Ggg	p.W216G		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	216						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GACAAGTTCCAGAGCGGAGTG	0.582000													32	107					0	0	1	0	0
SEPT11	55752	broad.mit.edu	37	4	77936159	77936159	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:77936159G>A	ENST00000264893.6	+	5	877	c.676G>A	c.(676-678)Gca>Aca	p.A226T	SEPT11_ENST00000502584.1_Missense_Mutation_p.A226T|SEPT11_ENST00000505788.1_Missense_Mutation_p.A226T|SEPT11_ENST00000510515.1_Missense_Mutation_p.A236T|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000541121.1_Missense_Mutation_p.A236T	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	226					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding	p.A226T(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						AGAGATTAACGCAACAATGAG	0.438000													18	79					0	0	1	0	0
WAPAL	23063	broad.mit.edu	37	10	88259531	88259531	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr10:88259531G>A	ENST00000298767.5	-	3	1941	c.1469C>T	c.(1468-1470)cCt>cTt	p.P490L		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	490	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TTCTGGGGGAGGCTGCAAGGA	0.393000													29	68					0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61987405	61987405	+	Silent	SNP	A	A	T	rs2006122	by1000genomes	TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr17:61987405A>T	ENST00000450719.3	-	3	543	c.306T>A	c.(304-306)ccT>ccA	p.P102P	CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000561003.1_Silent_p.P113P|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000438387.2_Intron			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						ATGAAGAATAAGGTGAGTTCT	0.547000													8	129					0	0	1	0	0
FAM86JP	100125556	broad.mit.edu	37	3	125643915	125643915	+	RNA	SNP	T	T	C	rs79335314	by1000genomes	TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr3:125643915T>C	ENST00000485843.1	+	0	439					NR_024251.1																						TGGCCTTTACTGTCCGCAACC	0.652000													5	87					0	0	1	0	0
GPT2	84706	broad.mit.edu	37	16	46960923	46960923	+	Silent	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr16:46960923G>A	ENST00000440783.2	+	11	1820	c.1155G>A	c.(1153-1155)ggG>ggA	p.G385G	GPT2_ENST00000340124.4_Silent_p.G485G	NM_001142466.1	NP_001135938.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	485					2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GTGGCTTTGGGCAGAGGGAAG	0.562000													31	77					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162307341	162307341	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:162307341G>T	ENST00000306100.5	-	16	2538	c.2102C>A	c.(2101-2103)cCa>cAa	p.P701Q	FSTL5_ENST00000427802.2_Missense_Mutation_p.P691Q|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000536695.1_Missense_Mutation_p.P700Q|FSTL5_ENST00000379164.4_Missense_Mutation_p.P700Q	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	701						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)		GTGGCCATCTGGAGAGACATA	0.468000													29	46					1.68575e-08	1.85433e-08	1	1	0
FRAS1	80144	broad.mit.edu	37	4	79284755	79284755	+	Silent	SNP	G	G	T	rs147300670	by1000genomes	TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:79284755G>T	ENST00000264895.6	+	21	2951	c.2511G>T	c.(2509-2511)ctG>ctT	p.L837L	FRAS1_ENST00000325942.6_Silent_p.L837L	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	837					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACTACCTGCTGCTCGGGGACC	0.567000													5	14					0.014758	0.0148423	1	1	0
PARD3	56288	broad.mit.edu	37	10	34558645	34558645	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr10:34558645A>G	ENST00000374789.3	-	22	3693	c.3368T>C	c.(3367-3369)aTg>aCg	p.M1123T	PARD3_ENST00000545260.1_Missense_Mutation_p.M1033T|PARD3_ENST00000350537.4_Missense_Mutation_p.M1077T|PARD3_ENST00000374790.3_Missense_Mutation_p.M1063T|PARD3_ENST00000374788.3_Missense_Mutation_p.M1120T|PARD3_ENST00000346874.4_Missense_Mutation_p.M1086T|PARD3_ENST00000374794.3_Missense_Mutation_p.M1011T|PARD3_ENST00000545693.1_Missense_Mutation_p.M1107T	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1123					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CAAAGCATCCATCATATGCCC	0.498000													15	46					0	0	1	0	0
NDUFA9	4704	broad.mit.edu	37	12	4796104	4796104	+	Splice_Site	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr12:4796104A>G	ENST00000266544.5	+	11	984	c.963_splice	c.e11-1	p.M322_splice	NDUFA9_ENST00000540688.1_Splice_Site_p.M81_splice|RP11-234B24.6_ENST00000544741.2_Intron	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	322					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	TTATCCAAAGATGCACATCAC	0.478000													11	10					0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	534285	534285	+	Missense_Mutation	SNP	C	C	A	rs104894226		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr11:534285C>A	ENST00000417302.1	-	2	225	c.38G>T	c.(37-39)gGt>gTt	p.G13V	HRAS_ENST00000311189.7_Missense_Mutation_p.G13V|HRAS_ENST00000451590.1_Missense_Mutation_p.G13V|HRAS_ENST00000397596.2_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G13V	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in FCSS).|G -> D (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CTTGCCCACACCGCCGGCGCC	0.642000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			12	28					9.31168e-06	9.81351e-06	1	1	0
CXorf66	347487	broad.mit.edu	37	X	139038215	139038215	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chrX:139038215G>T	ENST00000370540.1	-	3	949	c.926C>A	c.(925-927)tCc>tAc	p.S309Y		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	309						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						CTTACGAAAGGACCTGGAAGA	0.378000													54	37					9.52127e-25	1.18847e-24	1	1	0
ERBB4	2066	broad.mit.edu	37	2	212251760	212251760	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr2:212251760T>A	ENST00000342788.4	-	27	3609	c.3299A>T	c.(3298-3300)gAg>gTg	p.E1100V	ERBB4_ENST00000436443.1_Missense_Mutation_p.E1084V|ERBB4_ENST00000402597.1_Missense_Mutation_p.E1090V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1100					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ATCAAAAATCTCAGCAGTAGC	0.552000										TSP Lung(8;0.080)			33	100					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50129580	50129580	+	RNA	SNP	T	T	C			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chrX:50129580T>C	ENST00000376025.2	-	0	2182							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ATACATTAAGTCACTCTATAT	0.488000													10	13					0	0	1	0	0
EPHX1	2052	broad.mit.edu	37	1	226030159	226030159	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:226030159G>A	ENST00000366837.4	+	7	1220	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N	EPHX1_ENST00000272167.5_Missense_Mutation_p.D342N|RP11-285F7.2_ENST00000424332.1_RNA	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	342					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					ATACCTGGAGGATGGAGGCCT	0.572000													17	38					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181702832	181702832	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:181702832G>A	ENST00000526775.1	+	20	3316	c.3151G>A	c.(3151-3153)Gtc>Atc	p.V1051I	CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1070I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1070I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V677I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1021I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1002I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1051I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1070					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAGCACCAGCGTCACCGTCGC	0.632000													4	28					0	0	1	0	0
KBTBD12	166348	broad.mit.edu	37	3	127642128	127642128	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr3:127642128A>T	ENST00000405109.1	+	2	691	c.224A>T	c.(223-225)tAt>tTt	p.Y75F	KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000405256.1_Missense_Mutation_p.Y75F			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	75	BTB.									endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						GTCATACTTTATGACATCACA	0.413000													53	39					0	0	1	0	0
TRBV7-4	28594	broad.mit.edu	37	7	142176774	142176774	+	RNA	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr7:142176774A>G	ENST00000390369.2	-	0	16																											CACCCAGCAGAGGAGCCTGGT	0.537000													28	58					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371421	240371421	+	Silent	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:240371421C>T	ENST00000319653.9	+	5	3539	c.3309C>T	c.(3307-3309)ccC>ccT	p.P1103P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1103	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.P1246P(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCTCTACCCGGAGTGGGCA	0.736000													3	27					0	0	1	0	0
CD68	968	broad.mit.edu	37	17	7484822	7484822	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr17:7484822C>T	ENST00000250092.6	+	6	1269	c.1058C>T	c.(1057-1059)gCc>gTc	p.A353V	CD68_ENST00000380498.6_Missense_Mutation_p.A326V	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule	353						endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane				endometrium(1)|lung(1)|skin(1)	3						GCCTACCAGGCCCTCTGAGCA	0.577000													26	34					0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138758754	138758754	+	Missense_Mutation	SNP	T	T	C	rs150148096	by1000genomes	TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr7:138758754T>C	ENST00000242351.5	-	7	2036	c.1720A>G	c.(1720-1722)Atc>Gtc	p.I574V	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.I696V|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.I574V	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	574					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CGAAAATTGATTGTATAACTT	0.423000													22	59					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10293783	10293783	+	Silent	SNP	G	G	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr17:10293783G>T	ENST00000403437.2	-	40	5896	c.5802C>A	c.(5800-5802)atC>atA	p.I1934I	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1934					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						ACTCTGCACTGATTTTTGTGT	0.473000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				27	116					4.87955e-14	5.68743e-14	1	1	0
RC3H2	54542	broad.mit.edu	37	9	125627747	125627747	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr9:125627747C>T	ENST00000373665.2	-	11	1673	c.1433G>A	c.(1432-1434)aGc>aAc	p.S478N	RC3H2_ENST00000357244.2_Silent_p.Q505Q|RC3H2_ENST00000373670.1_Silent_p.Q505Q|RC3H2_ENST00000423239.2_Silent_p.Q505Q			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	0						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GTGAGATTAGCTGGGAAACAC	0.453000													29	93					0	0	1	0	0
MED4	29079	broad.mit.edu	37	13	48653988	48653988	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr13:48653988C>A	ENST00000258648.2	-	6	657	c.632G>T	c.(631-633)aGa>aTa	p.R211I	MED4-AS1_ENST00000422483.1_RNA|MED4_ENST00000378586.1_Missense_Mutation_p.R165I|MED4_ENST00000495013.1_5'UTR	NM_014166.2	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	211					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		ACCTGGCAATCTTCCTGCTGC	0.438000													29	81					1.16021e-09	1.29238e-09	1	1	0
ADAM30	11085	broad.mit.edu	37	1	120438120	120438120	+	Silent	SNP	T	T	C			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:120438120T>C	ENST00000369400.1	-	1	998	c.840A>G	c.(838-840)aaA>aaG	p.K280K		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	280	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		ATACACTTTTTTTATATATTA	0.343000													36	48					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40702813	40702813	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:40702813delC	ENST00000372771.4	+	8	2466	c.2439delC	c.(2437-2439)tafs	p.Y813fs		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	813					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AGTTCTATTACTCCAAAATTG	0.383													18	47	---	---	---	---					
DLX2	1746	broad.mit.edu	37	2	172967129	172967131	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr2:172967129_172967131delGCT	ENST00000234198.4	-	1	497_499	c.136_138delAGC	c.(136-138)del	p.S46del	DLX2_ENST00000466293.2_In_Frame_Del_p.S46del	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	46	Poly-Ser.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GCTTGTGGAGgctgctgctgctg	0.739													2	4	---	---	---	---					
LPP	4026	broad.mit.edu	37	3	188477995	188478003	+	In_Frame_Del	DEL	CATCTGCAA	CATCTGCAA	-			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr3:188477995_188478003delCATCTGCAA	ENST00000312675.4	+	8	1581_1589	c.1335_1343delCATCTGCAA	c.(1333-1344)atc>at	p.IICN445del	LPP_ENST00000543006.1_In_Frame_Del_p.IICN445del	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	445	LIM zinc-binding 1.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TTACCTGCATCATCTGCAACAACAAGCTC	0.502			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								22	77	---	---	---	---					
TAAR1	134864	broad.mit.edu	37	6	132966722	132966723	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr6:132966722_132966723delAA	ENST00000275216.1	-	1	419_420	c.420_421delTT	c.(418-423)atgtfs	p.IC140fs		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	140						plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	ATCATCACACAAATAACCAAGA	0.396													23	50	---	---	---	---					
KANK3	256949	broad.mit.edu	37	19	8398950	8398961	+	In_Frame_Del	DEL	TCGCTGTCGCCA	TCGCTGTCGCCA	-	rs111751275		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr19:8398950_8398961delTCGCTGTCGCCA	ENST00000330915.3	-	5	1532_1543	c.1467_1478delTGGCGACAGCGA	c.(1465-1479)gag>ga	p.DGDSE489del	KANK3_ENST00000593649.1_In_Frame_Del_p.DGDSE489del	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	489								p.D489_S492delDGDS(2)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GCCACCGTTCTCGCTGTCGCCATCGCTGTCGC	0.717													2	4	---	---	---	---					
FLNA	2316	broad.mit.edu	37	X	153595205	153595205	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chrX:153595205delT	ENST00000422373.1	-	6	1130	c.882delA	c.(880-882)acfs	p.T294fs	FLNA_ENST00000344736.4_Frame_Shift_Del_p.T294fs|FLNA_ENST00000369850.3_Frame_Shift_Del_p.T294fs|FLNA_ENST00000360319.4_Frame_Shift_Del_p.T294fs	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	294					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCATGTTGCCTGTGGGCTCGA	0.657													26	16	---	---	---	---					
