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
WDR55	54853	broad.mit.edu	37	5	140048330	140048330	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr5:140048330G>A	ENST00000358337.5	+	4	751	c.514G>A	c.(514-516)Gca>Aca	p.A172T		NM_017706.4	NP_060176.2	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	172					rRNA processing	cytoplasm|nucleolus				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGTACATCGCAGACATGGC	0.542000													26	81					0	0	1	0	0
CUL4B	8450	broad.mit.edu	37	X	119678007	119678007	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chrX:119678007A>G	ENST00000371322.5	-	7	1196	c.1135T>C	c.(1135-1137)Tat>Cat	p.Y379H	CUL4B_ENST00000336592.6_Missense_Mutation_p.Y384H|CUL4B_ENST00000404115.3_Missense_Mutation_p.Y397H	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	397					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCAGCTGCATAGAGCCGGTTA	0.333000													32	131					0	0	1	0	0
CKAP2	0	broad.mit.edu	37	13	53035286	53035286	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr13:53035286A>G	ENST00000378037.5	+	4	418	c.328A>G	c.(328-330)Acc>Gcc	p.T110A	CKAP2_ENST00000258607.5_Missense_Mutation_p.T109A|CKAP2_ENST00000490903.1_Missense_Mutation_p.T61A|CKAP2_ENST00000378034.3_Missense_Mutation_p.T109A	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	110					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		AAATGAACTAACCAATTCAAC	0.358000													8	202					0	0	1	0	0
IRF2	3660	broad.mit.edu	37	4	185310135	185310135	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr4:185310135C>T	ENST00000393593.3	-	9	1034	c.827G>A	c.(826-828)gGc>gAc	p.G276D		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	276					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.G276D(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		GGACGCCATGCCGGGCAGCAG	0.552000													5	283					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195513519	195513519	+	Silent	SNP	A	A	T			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr3:195513519A>T	ENST00000463781.3	-	2	5391	c.4932T>A	c.(4930-4932)ggT>ggA	p.G1644G	MUC4_ENST00000475231.1_Silent_p.G1644G|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	428	VWFD.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.N1637_T1652delNASSLSTGHATPLHVT(2)|p.G1644G(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGTGGCGTGACCTGTGGATA	0.587000													3	6					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913570	77913570	+	Silent	SNP	C	C	T	rs139493021	byFrequency	TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chrX:77913570C>T	ENST00000321110.1	-	2	643	c.348G>A	c.(346-348)gcG>gcA	p.A116A		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	116	Pro-rich.						nucleic acid binding|zinc ion binding	p.A116A(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TTGCTGGAGGCGCCAGGGACT	0.632000													21	62					0	0	1	0	0
FTSJ1	24140	broad.mit.edu	37	X	48337016	48337016	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chrX:48337016C>T	ENST00000019019.2	+	5	632	c.203C>T	c.(202-204)tCc>tTc	p.S68F	FTSJ1_ENST00000348411.2_Missense_Mutation_p.S68F|FTSJ1_ENST00000396894.4_Intron|FTSJ1_ENST00000456787.1_Missense_Mutation_p.S68F	NM_177439.1	NP_803188.1	Q9UET6	RRMJ1_HUMAN	FtsJ RNA methyltransferase homolog 1 (E. coli)	68					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						GGCCAAGGGTCCGGCCACGTG	0.657000													11	41					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79387504	79387504	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr4:79387504G>A	ENST00000264895.6	+	50	7612	c.7172G>A	c.(7171-7173)gGc>gAc	p.G2391D		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2390					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						AGCCATGACGGCAGTAACTCC	0.532000													18	63					0	0	1	0	0
WBSCR22	114049	broad.mit.edu	37	7	73098135	73098135	+	Missense_Mutation	SNP	G	G	A	rs111971609		TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr7:73098135G>A	ENST00000423166.2	+	2	106	c.59G>A	c.(58-60)aGt>aAt	p.S20N	WBSCR22_ENST00000464615.1_Intron|WBSCR22_ENST00000265758.2_Splice_Site|WBSCR22_ENST00000423497.1_Splice_Site			O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	0						nucleus	methyltransferase activity			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				ACGTTCGCAAGTGAGGGGAGC	0.572000													6	275					0	0	1	0	0
FCN1	2219	broad.mit.edu	37	9	137809638	137809638	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr9:137809638G>A	ENST00000371806.3	-	1	171	c.80C>T	c.(79-81)gCc>gTc	p.A27V		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	27					opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CGCAGCCTGGGCAGGCAGGTT	0.582000													32	88					0	0	1	0	0
RP11-468E2.6	0	broad.mit.edu	37	14	24600895	24600895	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr14:24600895A>G	ENST00000558325.1	+	3	685	c.685A>G	c.(685-687)Aca>Gca	p.229_229insA	FITM1_ENST00000267426.5_Silent_p.E41E																							TTGGAAGCGAACAGGCCGCCC	0.657000													24	77					0	0	1	0	0
ENTPD7	57089	broad.mit.edu	37	10	101458364	101458364	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr10:101458364G>A	ENST00000370489.4	+	10	1262	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	362						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		GGGACTCACAGATGTGGTGGA	0.537000													26	105					0	0	1	0	0
INPP5K	51763	broad.mit.edu	37	17	1401275	1401275	+	Silent	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr17:1401275G>A	ENST00000406424.4	-	10	1550	c.690C>T	c.(688-690)taC>taT	p.Y230Y	INPP5K_ENST00000320345.6_Silent_p.Y230Y|INPP5K_ENST00000542125.1_Silent_p.Y210Y|INPP5K_ENST00000421807.2_Silent_p.Y306Y|INPP5K_ENST00000397335.3_Silent_p.Y214Y	NM_001135642.1	NP_001129114.1	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	306	Catalytic (Potential).				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						CGCTGATGCCGTACGTCATGT	0.607000													5	367					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55260505	55260505	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr7:55260505A>G	ENST00000275493.2	+	22	2849	c.2672A>G	c.(2671-2673)tAt>tGt	p.Y891C	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.Y838C|EGFR_ENST00000455089.1_Missense_Mutation_p.Y846C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	891	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CACAGAATCTATACCCACCAG	0.428000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			26	99					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113420579	113420579	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr8:113420579A>G	ENST00000297405.5	-	34	5817	c.5573T>C	c.(5572-5574)aTa>aCa	p.I1858T	CSMD3_ENST00000343508.3_Missense_Mutation_p.I1818T|CSMD3_ENST00000455883.2_Missense_Mutation_p.I1754T|CSMD3_ENST00000352409.3_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1858	CUB 10.					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						CTTAGCTGTTATTGGTCCAAC	0.348000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			62	203					0	0	1	0	0
ARRDC2	27106	broad.mit.edu	37	19	18119539	18119539	+	Silent	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr19:18119539G>A	ENST00000222250.4	+	2	437	c.294G>A	c.(292-294)acG>acA	p.T98T	ARRDC2_ENST00000379656.2_Silent_p.T93T|ARRDC2_ENST00000595712.1_3'UTR	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	98										endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						AGACCACGACGCTGCCTCCTG	0.642000													30	114					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178927980	178927980	+	Missense_Mutation	SNP	T	T	C	rs121913272		TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr3:178927980T>C	ENST00000263967.3	+	8	1415	c.1258T>C	c.(1258-1260)Tgt>Cgt	p.C420R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	420	C2 PI3K-type.		C -> R (in cancer; shows an increase in lipid kinase activity; may increase the affinity for lipid membranes).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.C420R(40)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TAAGGAACACTGTCCATTGGC	0.328000	C420R(CCK81_LARGE_INTESTINE)|C420R(EFM192A_BREAST)|C420R(HEC151_ENDOMETRIUM)|C420R(OVISE_OVARY)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			35	122					0	0	1	0	0
CCDC176	80127	broad.mit.edu	37	14	74516767	74516767	+	Silent	SNP	A	A	G			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr14:74516767A>G	ENST00000394009.3	+	8	1278	c.1155A>G	c.(1153-1155)gcA>gcG	p.A385A	CCDC176_ENST00000553773.1_Silent_p.A110A|AC005484.5_ENST00000492026.1_RNA	NM_025057.2	NP_079333.2			coiled-coil domain containing 176																		AGCAGATAGCACAAGCTGCTT	0.398000													30	116					0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27949432	27949432	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr9:27949432C>T	ENST00000379992.2	-	6	1687	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H	LINGO2_ENST00000308675.3_Missense_Mutation_p.R413H	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	413	Ig-like C2-type.					integral to membrane		p.R413H(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CTTCTTTTCACGGATTTTGGG	0.488000													41	156					0	0	1	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947730	57947730	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr11:57947730G>T	ENST00000335397.3	+	3	1130	c.814G>T	c.(814-816)Gta>Tta	p.V272L		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				GAAGAATCGGGTAGTGTCTGT	0.488000													47	156					1.56793e-16	1.69042e-16	1	1	0
CHEK2P2	0	broad.mit.edu	37	15	20490515	20490515	+	RNA	SNP	G	G	T			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr15:20490515G>T	ENST00000555186.1	+	0	495					NR_038836.1																						TCTGGACCTTGTCAAGAAGTT	0.438000													53	604					1.82294e-38	1.99655e-38	1	1	0
SCN3A	6328	broad.mit.edu	37	2	165953004	165953004	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr2:165953004A>C	ENST00000360093.3	-	24	4757	c.4266T>G	c.(4264-4266)atT>atG	p.I1422M	SCN3A_ENST00000409101.3_Missense_Mutation_p.I1373M|SCN3A_ENST00000283254.7_Missense_Mutation_p.I1422M	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1422						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CTGCATACATAATATCCATCC	0.299000													19	90					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								36	132					0	0	1	0	0
TMEM225	338661	broad.mit.edu	37	11	123756083	123756083	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr11:123756083G>A	ENST00000375026.2	-	1	266	c.50C>T	c.(49-51)tCc>tTc	p.S17F		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	17						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GGCCCAGGAGGAGAAAAGTAT	0.408000													34	133					0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46276937	46276937	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr13:46276937A>G	ENST00000310521.1	+	2	183	c.103A>G	c.(103-105)Aga>Gga	p.R35G		NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	35						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		TACAAGAAAAAGAGATACCAG	0.423000													4	151					0	0	1	0	0
SMG9	56006	broad.mit.edu	37	19	44248978	44248978	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr19:44248978C>T	ENST00000601170.1	-	6	961	c.647G>A	c.(646-648)gGc>gAc	p.G216D	SMG9_ENST00000270066.6_Missense_Mutation_p.G216D			Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	216					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						CATGGACTTGCCTGTCCCCTG	0.537000											OREG0025533	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	79					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100056345	100056345	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr9:100056345G>A	ENST00000357054.1	+	13	1138	c.203G>A	c.(202-204)cGc>cAc	p.R68H	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_Missense_Mutation_p.R68H|CCDC180_ENST00000411667.2_5'UTR|RP11-23J9.5_ENST00000375204.2_RNA|CCDC180_ENST00000375202.2_5'UTR|CCDC180_ENST00000375205.2_Missense_Mutation_p.R108H					coiled-coil domain containing 180																		CTGATTGCCCGCATCGACAGG	0.572000													4	157					0	0	1	0	0
GOLGA6D	653643	broad.mit.edu	37	15	75580621	75580621	+	Silent	SNP	C	C	T			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr15:75580621C>T	ENST00000434739.3	+	7	521	c.480C>T	c.(478-480)ggC>ggT	p.G160G		NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	160										kidney(1)|lung(1)	2						ATCTGGCTGGCCGCCTGCAAT	0.527000													5	327					0	0	1	0	0
PPP1R14D	54866	broad.mit.edu	37	15	41120653	41120653	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr15:41120653G>A	ENST00000299174.5	-	1	254	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	PPP1R14D_ENST00000427255.2_Missense_Mutation_p.R63W	NM_017726.7	NP_060196.1	Q9NXH3	PP14D_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14D	63					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity	p.R63W(1)		breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		AGCTGGCCCCGGTCATACTTC	0.592000													37	135					0	0	1	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33017320	33017320	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr13:33017320G>A	ENST00000357505.6	-	7	1413	c.1309C>T	c.(1309-1311)Cca>Tca	p.P437S	N4BP2L2_ENST00000504114.1_Missense_Mutation_p.P437S|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.P452S|N4BP2L2_ENST00000380121.3_5'UTR	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	108										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		GTTTCAGGTGGAGGTGAAAAA	0.373000													20	73					0	0	1	0	0
ZACN	353174	broad.mit.edu	37	17	74077738	74077738	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr17:74077738G>A	ENST00000334586.5	+	7	865	c.782G>A	c.(781-783)cGc>cAc	p.R261H	EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000589210.1_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	261	Leu-rich.				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GCCATTGAGCGCATAGGCTAC	0.622000													6	229					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176915088	176915088	+	Silent	SNP	G	G	A	rs138093855		TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr1:176915088G>A	ENST00000367654.2	-	13	2260	c.2247C>T	c.(2245-2247)gcC>gcT	p.A749A	ASTN1_ENST00000361833.2_Silent_p.A741A|ASTN1_ENST00000367657.3_Silent_p.A741A|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.A741A			O14525	ASTN1_HUMAN	astrotactin 1	749					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCACCTGTCCGGCAGCCACTT	0.463000													6	286					0	0	1	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54654435	54654435	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr5:54654435G>A	ENST00000230640.5	+	15	1822	c.1568G>A	c.(1567-1569)cGt>cAt	p.R523H	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.R422H	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	523	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.R523H(1)|p.R523P(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				ATGTCTGGTCGTGCTGGAAGG	0.323000													24	95					0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81990347	81990347	+	Silent	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr16:81990347G>A	ENST00000359376.3	+	32	3832	c.3618G>A	c.(3616-3618)cgG>cgA	p.R1206R		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1206					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.R1206R(1)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TGAGGAGGCGGCAAGAAGAAC	0.512000													5	119					0	0	1	0	0
ZMYM3	9203	broad.mit.edu	37	X	70469912	70469912	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chrX:70469912G>A	ENST00000373978.1	-	5	1003	c.926C>T	c.(925-927)aCg>aTg	p.T309M	ZMYM3_ENST00000373988.1_Silent_p.D407D|ZMYM3_ENST00000373982.1_Silent_p.D407D|ZMYM3_ENST00000314425.5_Silent_p.D405D|ZMYM3_ENST00000373981.1_Silent_p.D405D|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Silent_p.D407D|ZMYM3_ENST00000373998.1_Silent_p.D405D|ZMYM3_ENST00000353904.2_Silent_p.D405D			Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	0					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AGCGAGTAGCGTCGGCGGGAT	0.622000													14	50					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179516426	179516426	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr2:179516426C>T	ENST00000589042.1	-	206	39654	c.39430G>A	c.(39430-39432)Gtt>Att	p.V13144I	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V10710I|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V11637I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11497	Ig-like 87.						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)			TTTTTGGCAACGACAGCAGGT	0.398000													15	47					0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113856763	113856763	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr11:113856763C>T	ENST00000504030.2	+	6	1016	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	HTR3A_ENST00000506841.2_Missense_Mutation_p.R191C|HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000375498.2_Missense_Mutation_p.R197C|HTR3A_ENST00000299961.5_Missense_Mutation_p.R176C|HTR3A_ENST00000355556.2_Missense_Mutation_p.R197C			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	191					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	p.R191G(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CTCTTTGTGGCGCTTGCCAGA	0.527000													108	373					0	0	1	0	0
RAD9A	5883	broad.mit.edu	37	11	67159688	67159688	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr11:67159688C>A	ENST00000307980.2	+	2	184	c.91C>A	c.(91-93)Ccc>Acc	p.P31T		NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	31					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CTACCTGGAACCCTTGGAGGA	0.701000								Other conserved DNA damage response genes					9	27					0.000274275	0.000282462	1	1	0
CR2	1380	broad.mit.edu	37	1	207639979	207639979	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr1:207639979G>A	ENST00000367057.3	+	2	356	c.167G>A	c.(166-168)cGc>cAc	p.R56H	CR2_ENST00000367059.3_Missense_Mutation_p.R56H|CR2_ENST00000458541.2_Missense_Mutation_p.R56H|CR2_ENST00000367058.3_Missense_Mutation_p.R56H	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	56	Sushi 1.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GGTACCTTCCGCCTCATTGGA	0.408000													63	212					0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42264535	42264535	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr3:42264535C>A	ENST00000327628.5	+	16	2568	c.2168C>A	c.(2167-2169)tCc>tAc	p.S723Y	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.S665Y	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	723					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CTGGCTGAGTCCTTCACTAAC	0.607000													4	99					1	1	1	1	0
UBC	7316	broad.mit.edu	37	12	125397663	125397663	+	Silent	SNP	A	A	G			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr12:125397663A>G	ENST00000536769.1	-	1	2231	c.655T>C	c.(655-657)Ttg>Ctg	p.L219L	UBC_ENST00000339647.5_Silent_p.L219L|UBC_ENST00000546120.1_Silent_p.L143L|UBC_ENST00000538617.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	219	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		ACCAGGTGCAAGGTGGACTCT	0.517000													8	188					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169622399	169622399	+	Missense_Mutation	SNP	G	G	A	rs141219768		TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr6:169622399G>A	ENST00000366787.3	-	20	3415	c.3166C>T	c.(3166-3168)Cgg>Tgg	p.R1056W	XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1056	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCATAGGCCCGCGTGGGCTGG	0.632000													3	80					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238270426	238270426	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr2:238270426C>T	ENST00000295550.4	-	15	6564	c.6112G>A	c.(6112-6114)Ggg>Agg	p.G2038R	COL6A3_ENST00000472056.1_Missense_Mutation_p.G1431R|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1838R|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1832R|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1837R|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1832R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2038	Collagen-like 1.|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)		CCCCTCTGCCCAGAGCACTTG	0.567000													22	121					0	0	1	0	0
HERC2P3	0	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097																		p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463000													4	71					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17785503	17785503	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr19:17785503G>A	ENST00000428389.2	-	4	378	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	UNC13A_ENST00000519716.2_Missense_Mutation_p.R39W|UNC13A_ENST00000552293.1_Missense_Mutation_p.R39W|UNC13A_ENST00000550896.1_Missense_Mutation_p.R39W|UNC13A_ENST00000252773.7_Missense_Mutation_p.R39W|UNC13A_ENST00000551649.1_Missense_Mutation_p.R39W			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	39					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TGGCTGCCCCGCACCGCGATG	0.602000													5	163					0	0	1	0	0
CGRRF1	10668	broad.mit.edu	37	14	54989229	54989229	+	Silent	SNP	A	A	G			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr14:54989229A>G	ENST00000216420.7	+	2	294	c.162A>G	c.(160-162)acA>acG	p.T54T	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	54					cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						AGTTCAGCACAAGAGTTTTCA	0.338000													5	170					0	0	1	0	0
RHNO1	83695	broad.mit.edu	37	12	2994573	2994573	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr12:2994573C>A	ENST00000489288.2	+	2	193	c.41C>A	c.(40-42)gCc>gAc	p.A14D	RHNO1_ENST00000461997.2_Missense_Mutation_p.A14D|RHNO1_ENST00000464682.2_Intron	NM_001252499.2|NM_001257097.1|NM_001257098.1	NP_001239428.1|NP_001244026.1|NP_001244027.1			RAD9-HUS1-RAD1 interacting nuclear orphan 1																		TCCCAGAAAGCCCCGCTGCTG	0.567000													4	131					2.56e-06	2.67636e-06	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3240986	3240986	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chrX:3240986T>C	ENST00000217939.6	-	5	2894	c.2740A>G	c.(2740-2742)Ata>Gta	p.I914V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	914						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGCTCAGATATAAGTGTAGGG	0.498000													7	184					0	0	1	0	0
SACM1L	22908	broad.mit.edu	37	3	45751042	45751042	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr3:45751042A>G	ENST00000389061.5	+	5	590	c.386A>G	c.(385-387)gAt>gGt	p.D129G	SACM1L_ENST00000464524.1_3'UTR|SACM1L_ENST00000418611.1_Missense_Mutation_p.D26G|SACM1L_ENST00000541314.1_Missense_Mutation_p.D68G	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	129	SAC.					Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		TTGAATGTGGATGGATTTTAC	0.353000													35	141					0	0	1	0	0
ZNF281	23528	broad.mit.edu	37	1	200376612	200376614	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr1:200376612_200376614delAAC	ENST00000294740.2	-	2	2344_2346	c.2220_2222delGTT	c.(2218-2223)ttt>tt	p.LF740del	ZNF281_ENST00000367353.1_In_Frame_Del_p.LF740del|ZNF281_ENST00000367352.3_In_Frame_Del_p.LF704del	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	740					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						CTGAGATCCAAACAACATCCCAA	0.443													8	166	---	---	---	---					
CDC42BPA	8476	broad.mit.edu	37	1	227218139	227218141	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr1:227218139_227218141delCTT	ENST00000366769.3	-	28	4992_4994	c.3701_3703delAAG	c.(3700-3705)ggg>g	p.EG1234del	CDC42BPA_ENST00000366767.3_In_Frame_Del_p.EG1153del|CDC42BPA_ENST00000366765.3_In_Frame_Del_p.EG1247del|CDC42BPA_ENST00000366764.2_In_Frame_Del_p.EG1206del|CDC42BPA_ENST00000334218.5_In_Frame_Del_p.EG1234del|CDC42BPA_ENST00000366766.2_In_Frame_Del_p.EG1269del|CDC42BPA_ENST00000535525.1_In_Frame_Del_p.EG1214del	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1247	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.E1234D(1)|p.E1153D(1)|p.E1269D(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				ACAAATAACCCTTCTTCGTTTCC	0.276													52	230	---	---	---	---					
C2orf42	54980	broad.mit.edu	37	2	70408448	70408450	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr2:70408448_70408450delAGA	ENST00000264434.2	-	3	1047_1049	c.668_670delTCT	c.(667-672)tgc>t	p.FC223del	C2orf42_ENST00000420306.1_In_Frame_Del_p.FC223del	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	223										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TGACAGGAGCAGAAGAAGCGGCG	0.488													45	237	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179444038	179444038	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr2:179444038delG	ENST00000589042.1	-	320	67943	c.67719delC	c.(67717-67719)ccfs	p.P22573fs	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.P20932fs|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.P13700fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.P20005fs|TTN-AS1_ENST00000592750.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.P13633fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.P13508fs|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20932	Fibronectin type-III 63.						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)			TGCCTTTTATGGGGATCTTAA	0.453													35	122	---	---	---	---					
SPEF2	79925	broad.mit.edu	37	5	35705894	35705894	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr5:35705894delA	ENST00000440995.2	+	18	2634	c.2634delA	c.(2632-2634)gcfs	p.A878fs	SPEF2_ENST00000356031.3_Frame_Shift_Del_p.A883fs|SPEF2_ENST00000509059.1_Frame_Shift_Del_p.A878fs|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	883					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.K886fs*8(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGAAATAGCAAAAAAAAAGA	0.269													7	77	---	---	---	---					
CTB-35F21.1	0	broad.mit.edu	37	5	139076594	139076594	+	RNA	DEL	G	G	-			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr5:139076594delG	ENST00000515296.1	+	0	181																											GCTGCAGAGCGGGGGGCGCAT	0.692													2	4	---	---	---	---					
TRERF1	55809	broad.mit.edu	37	6	42196333	42196333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr6:42196333delT	ENST00000541110.1	-	18	3981	c.3413delA	c.(3412-3414)agfs	p.K1138fs	TRERF1_ENST00000372922.4_Frame_Shift_Del_p.K1118fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1118	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTGAGCCTTTTGCCTCTG	0.542													7	1111	---	---	---	---					
ZNF318	24149	broad.mit.edu	37	6	43305258	43305261	+	Frame_Shift_Del	DEL	AATT	AATT	-			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr6:43305258_43305261delAATT	ENST00000361428.2	-	10	6552_6555	c.6475_6478delAATT	c.(6475-6480)ctfs	p.NS2159fs	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2159					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AGGCCTGCAGAATTAATTGTTTTT	0.446													19	85	---	---	---	---					
TRBV6-5	0	broad.mit.edu	37	7	142180819	142180821	+	RNA	DEL	AGG	AGG	-			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr7:142180819_142180821delAGG	ENST00000390368.2	-	0	115																											CCTGCAGAGAAGGAGAACAAAGC	0.557													7	173	---	---	---	---					
SLCO1B3	28234	broad.mit.edu	37	12	21028267	21028267	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr12:21028267delT	ENST00000381545.3	+	9	1045	c.826delT	c.(826-828)ttfs	p.F278fs	SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	278					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TTCCATACCATTTTTTTTCTT	0.363													7	200	---	---	---	---					
MBD6	0	broad.mit.edu	37	12	57921956	57921957	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr12:57921956_57921957delCT	ENST00000355673.3	+	10	2789_2790	c.2433_2434delCT	c.(2431-2436)ccgtfs	p.PC811fs	MBD6_ENST00000431731.2_Frame_Shift_Del_p.PC811fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	811	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CAGAAGCCCCCTGTCTACCCCC	0.574													25	115	---	---	---	---					
CHRNA3	0	broad.mit.edu	37	15	78913068	78913070	+	In_Frame_Del	DEL	CAG	CAG	-	rs72025661		TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr15:78913068_78913070delCAG	ENST00000326828.5	-	1	451_453	c.67_69delCTG	c.(67-69)del	p.L23del	CHRNA3_ENST00000348639.3_In_Frame_Del_p.L23del	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	23			Missing.		activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						gcagcagagacagcagcagcagc	0.768													4	2	---	---	---	---					
MIR3648	0	broad.mit.edu	37	21	9825852	9825853	+	RNA	INS	-	-	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr21:9825852_9825853insA	ENST00000581792.1	+	0	21_22					NR_037421.1																						gcggcggtggtggggggagccg	0.837													4	7	---	---	---	---					
PIK3IP1	113791	broad.mit.edu	37	22	31685255	31685275	+	In_Frame_Del	DEL	CCTTCCTCCCCTCCTCCTAAG	CCTTCCTCCCCTCCTCCTAAG	-	rs2073861	by1000genomes	TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr22:31685255_31685275delCCTTCCTCCCCTCCTCCTAAG	ENST00000402249.3	-	5	747_767	c.613_633delCTTAGGAGGAGGGGAGGAAGG	c.(613-633)del	p.LRRRGGR205del	PIK3IP1_ENST00000215912.5_Intron|PIK3IP1_ENST00000487265.2_Intron|PIK3IP1_ENST00000441972.1_Intron			Q96FE7	P3IP1_HUMAN	phosphoinositide-3-kinase interacting protein 1	0						integral to membrane				large_intestine(2)|lung(1)|ovary(1)	4						ACTTTGTGTACCTTCCTCCCCTCCTCCTAAGAGGGCCCAGA	0.475													9	31	---	---	---	---					
FMR1	2332	broad.mit.edu	37	X	147014218	147014219	+	Frame_Shift_Ins	INS	-	-	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chrX:147014218_147014219insA	ENST00000218200.8	+	9	1045_1046	c.816_817insA	c.(814-819)gtaaaafs	p.VK272fs	FMR1_ENST00000370475.4_Frame_Shift_Ins_p.VK272fs|FMR1_ENST00000370470.1_Frame_Shift_Ins_p.VK272fs|FMR1_ENST00000334557.6_Frame_Shift_Ins_p.VK272fs|FMR1_ENST00000370477.1_Frame_Shift_Ins_p.VK272fs|FMR1_ENST00000440235.2_5'UTR|FMR1_ENST00000439526.2_Frame_Shift_Ins_p.VK272fs|FMR1_ENST00000370471.3_Frame_Shift_Ins_p.VK272fs	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	272					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AGGATGCAGTGAAAAAAGCTAG	0.332									Fragile X syndrome				56	253	---	---	---	---