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
DNAH5	1767	broad.mit.edu	37	5	13692178	13692178	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr5:13692178T>C	ENST00000265104.4	-	79	13894	c.13790A>G	c.(13789-13791)tAc>tGc	p.Y4597C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4597					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGCGGCAATGTAGTTCAAGTC	0.483000									Kartagener syndrome				4	76					0	0	0.009096	0	0
TTLL3	26140	broad.mit.edu	37	3	9860559	9860559	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr3:9860559G>C	ENST00000547186.1	+	6	700	c.484G>C	c.(484-486)Gag>Cag	p.E162Q	TTLL3_ENST00000427853.3_5'UTR|TTLL3_ENST00000397241.1_5'UTR|TTLL3_ENST00000426895.4_Missense_Mutation_p.E305Q|TTLL3_ENST00000383827.1_5'UTR|ARPC4-TTLL3_ENST00000397256.1_Intron	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	162	TTL.				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					GGTGAAGTCTGAGTGGAAGTC	0.577000													6	173					0	0	0.001984	0	0
BEND2	139105	broad.mit.edu	37	X	18195820	18195820	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chrX:18195820G>A	ENST00000380033.4	-	10	1631	c.1499C>T	c.(1498-1500)gCc>gTc	p.A500V	BEND2_ENST00000380030.3_Missense_Mutation_p.A409V	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	500	BEN 1.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CTTAGGTTTGGCCATATTTTG	0.393000													4	183					0	0	0.021553	0	0
SKA3	221150	broad.mit.edu	37	13	21729856	21729856	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr13:21729856C>G	ENST00000314759.5	-	8	1338	c.1214G>C	c.(1213-1215)cGa>cCa	p.R405P	SKA3_ENST00000400018.3_Intron	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	405					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GCTGACATCTCGGATGTTCTG	0.353000													8	120					0	0	0.004482	0	0
CARD10	29775	broad.mit.edu	37	22	37891803	37891803	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr22:37891803C>T	ENST00000403299.1	-	15	2483	c.2267G>A	c.(2266-2268)cGg>cAg	p.R756Q	CARD10_ENST00000406271.3_Missense_Mutation_p.R470Q|CARD10_ENST00000251973.5_Missense_Mutation_p.R756Q			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	756					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GTCCAGGTCCCGCAGAGTGAG	0.642000													6	32					0	0	0.021553	0	0
PAPPA	5069	broad.mit.edu	37	9	119124919	119124919	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr9:119124919G>A	ENST00000328252.3	+	18	4765	c.4396G>A	c.(4396-4398)Ggc>Agc	p.G1466S	PAPPA_ENST00000534838.1_Missense_Mutation_p.G504S	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1466	Sushi 4.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CACCTGGAACGGCTCCTTCCA	0.532000													4	104					0	0	0.014758	0	0
NAPEPLD	222236	broad.mit.edu	37	7	102760426	102760426	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr7:102760426G>A	ENST00000417955.1	-	3	693	c.539C>T	c.(538-540)gCg>gTg	p.A180V	NAPEPLD_ENST00000465647.1_Missense_Mutation_p.A180V|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.A253V|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.A180V|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.A180V			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	180					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GATAAGGACCGCATCTATTGG	0.463000													4	157					0	0	0.014758	0	0
TTLL6	284076	broad.mit.edu	37	17	46847448	46847448	+	Silent	SNP	G	G	A			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr17:46847448G>A	ENST00000393382.3	-	14	2193	c.2052C>T	c.(2050-2052)tcC>tcT	p.S684S	TTLL6_ENST00000433608.2_Silent_p.S377S	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	636						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGGTTTCTACGGAGGTTAAGT	0.458000													8	91					0	0	0.008291	0	0
DPF1	8193	broad.mit.edu	37	19	38704349	38704349	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr19:38704349G>A	ENST00000416611.1	-	10	1072	c.949C>T	c.(949-951)Cgg>Tgg	p.R317W	DPF1_ENST00000355526.4_Missense_Mutation_p.R343W|DPF1_ENST00000456296.1_Missense_Mutation_p.R317W|DPF1_ENST00000414789.1_Missense_Mutation_p.R261W|DPF1_ENST00000420980.2_Missense_Mutation_p.R299W|DPF1_ENST00000412732.1_Missense_Mutation_p.R261W			Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	299					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGGTAGGTCCGCACGGCTGCC	0.667000													4	65					0	0	0.014758	0	0
CLEC4D	338339	broad.mit.edu	37	12	8672931	8672931	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr12:8672931G>A	ENST00000299665.2	+	5	687	c.494G>A	c.(493-495)cGc>cAc	p.R165H		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	165	C-type lectin.				innate immune response	integral to membrane	sugar binding	p.R165H(1)		large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					TTTAACCCACGCAGAGTGTAA	0.418000													5	78					0	0	0.014758	0	0
ANK2	287	broad.mit.edu	37	4	114290865	114290865	+	Silent	SNP	G	G	A			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr4:114290865G>A	ENST00000357077.4	+	43	11567	c.11514G>A	c.(11512-11514)gaG>gaA	p.E3838E	ANK2_ENST00000394537.3_Silent_p.E1753E|ANK2_ENST00000509550.1_Silent_p.E929E|ANK2_ENST00000510275.2_Silent_p.E405E|ANK2_ENST00000264366.6_Silent_p.E3805E|ANK2_ENST00000506722.1_Silent_p.E1744E	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3805					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACAGAGAGGAGAGCTCTCCGC	0.542000													7	47					0	0	0.003080	0	0
EIF4G3	8672	broad.mit.edu	37	1	21191633	21191633	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr1:21191633C>G	ENST00000602326.1	-	19	3178	c.2595G>C	c.(2593-2595)caG>caC	p.Q865H	EIF4G3_ENST00000374935.3_Missense_Mutation_p.Q579H|EIF4G3_ENST00000537738.1_Missense_Mutation_p.Q349H|EIF4G3_ENST00000264211.8_Missense_Mutation_p.Q859H|EIF4G3_ENST00000374937.3_Missense_Mutation_p.Q865H|EIF4G3_ENST00000536266.1_Missense_Mutation_p.Q463H|EIF4G3_ENST00000400422.1_Missense_Mutation_p.Q859H	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	859	MIF4G.|eIF3/EIF4A-binding (By similarity).				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CAAGTTCTTTCTGCTTCTTCT	0.408000													3	109					0	0	0.004672	0	0
SYNE2	23224	broad.mit.edu	37	14	64656947	64656947	+	Silent	SNP	C	C	T	rs145549349	by1000genomes	TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr14:64656947C>T	ENST00000357395.3	+	100	18329	c.7185C>T	c.(7183-7185)atC>atT	p.I2395I	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.I2644I|SYNE2_ENST00000554584.1_Silent_p.I5873I|SYNE2_ENST00000394768.2_Silent_p.I2395I|SYNE2_ENST00000358025.3_Silent_p.I6010I|SYNE2_ENST00000344113.4_Silent_p.I6010I			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6010			A -> T (in dbSNP:rs4027405).		centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTGATGTCATCGGATCAAGGT	0.403000													4	48					0	0	0.009096	0	0
FAT4	79633	broad.mit.edu	37	4	126241841	126241841	+	Silent	SNP	T	T	C			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr4:126241841T>C	ENST00000394329.3	+	1	4288	c.4275T>C	c.(4273-4275)atT>atC	p.I1425I		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1425	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGGAGATATTTTCAAGTCTA	0.423000													3	157					0	0	0.004672	0	0
COASY	80347	broad.mit.edu	37	17	40716511	40716511	+	Silent	SNP	C	C	G			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr17:40716511C>G	ENST00000393818.2	+	3	1419	c.963C>G	c.(961-963)ctC>ctG	p.L321L	COASY_ENST00000590958.1_Silent_p.L350L|COASY_ENST00000420359.1_Silent_p.L321L|COASY_ENST00000449624.1_Silent_p.L26L|COASY_ENST00000421097.2_Silent_p.L321L	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	321	Phosphopantetheine adenylyltransferase.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		TGAAGGACCTCAGACATACAG	0.527000													4	70					0	0	0.014758	0	0
MYH7	4625	broad.mit.edu	37	14	23884264	23884264	+	Silent	SNP	G	G	A	rs3729831		TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr14:23884264G>A	ENST00000355349.3	-	37	5661	c.5499C>T	c.(5497-5499)aaC>aaT	p.N1833N		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1833					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCGACTCTGCGTTGCGCTTCT	0.652000													7	154					0	0	0.004482	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C	rs79096325		TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967																				breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498000													3	25					0	0	0.004672	0	0
XIRP2	129446	broad.mit.edu	37	2	168100193	168100193	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr2:168100193A>G	ENST00000409195.1	+	9	2380	c.2291A>G	c.(2290-2292)aAg>aGg	p.K764R	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K542R|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K764R	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	589					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GACGTTGAAAAGGGAGATGTA	0.373000													3	60					0	0	0.009096	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18123449	18123449	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr20:18123449G>A	ENST00000278816.2	+	2	795	c.145G>A	c.(145-147)Gac>Aac	p.D49N	CSRP2BP_ENST00000377681.2_Missense_Mutation_p.D49N|CSRP2BP_ENST00000604915.1_Missense_Mutation_p.D49N|PET117_ENST00000432901.2_3'UTR|CSRP2BP_ENST00000435364.2_Missense_Mutation_p.D49N			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	49					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GGCATCAGTGGACTTATCGCA	0.537000													4	83					0	0	0.001984	0	0
MDC1	9656	broad.mit.edu	37	6	30671883	30671883	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr6:30671883G>A	ENST00000376406.3	-	10	5724	c.5077C>T	c.(5077-5079)Ccg>Tcg	p.P1693S	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.P1429S	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1693					cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GTAGGAACCGGCATAGCTCTT	0.537000								Other conserved DNA damage response genes					4	160					0	0	0.009096	0	0
ERC1	23085	broad.mit.edu	37	12	1221439	1221439	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr12:1221439A>T	ENST00000397203.2	+	6	1782	c.1376A>T	c.(1375-1377)aAg>aTg	p.K459M	ERC1_ENST00000543086.3_Intron|ERC1_ENST00000360905.4_Missense_Mutation_p.K459M|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000546231.2_Missense_Mutation_p.K459M|ERC1_ENST00000355446.5_Missense_Mutation_p.K459M|ERC1_ENST00000589028.1_Missense_Mutation_p.K459M			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	459					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GAGCTGAAAAAGAAAGCGGCT	0.468000													7	127					0	0	0.003080	0	0
ADCY4	196883	broad.mit.edu	37	14	24788554	24788554	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr14:24788554G>A	ENST00000310677.4	-	23	2935	c.2822C>T	c.(2821-2823)tCt>tTt	p.S941F	ADCY4_ENST00000418030.2_Missense_Mutation_p.S941F|ADCY4_ENST00000554068.2_Missense_Mutation_p.S941F	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	941					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		ATCCTGTCCAGAGGTGGCATT	0.527000													8	78					0	0	0.006214	0	0
EIF3D	8664	broad.mit.edu	37	22	36916654	36916654	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr22:36916654G>A	ENST00000216190.8	-	7	917	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	EIF3D_ENST00000541106.1_Missense_Mutation_p.R134C|EIF3D_ENST00000405442.1_Missense_Mutation_p.R183C	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3, subunit D	183						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						TCCAAGTAGCGCATCTTCATC	0.428000													3	46					0	0	0.004672	0	0
TMPO	7112	broad.mit.edu	37	12	98941400	98941400	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr12:98941400C>T	ENST00000556029.1	+	9	1485	c.1129C>T	c.(1129-1131)Ctc>Ttc	p.L377F	TMPO_ENST00000343315.5_Missense_Mutation_p.L337F|TMPO_ENST00000393053.2_Missense_Mutation_p.L268F|TMPO_ENST00000548223.1_3'UTR	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	377	Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCCATTAGAACTCAGTGATTT	0.428000													6	58					0	0	0.021553	0	0
OR5D16	390144	broad.mit.edu	37	11	55606601	55606601	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr11:55606601T>C	ENST00000378396.1	+	1	374	c.374T>C	c.(373-375)tTt>tCt	p.F125S		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TATGACCACTTTGTGGCCATT	0.443000													4	123					0	0	0.009096	0	0
TMEM55B	90809	broad.mit.edu	37	14	20928987	20928987	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr14:20928987C>G	ENST00000250489.4	-	2	446	c.160G>C	c.(160-162)Gag>Cag	p.E54Q	TMEM55B_ENST00000398020.4_Missense_Mutation_p.E61Q			Q86T03	TM55B_HUMAN	transmembrane protein 55B	54	Pro-rich.					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		GGATGCCCCTCGGGAAACGGG	0.587000													4	96					0	0	0.009096	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342197	60342197	+	RNA	SNP	T	T	C	rs76635225		TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr17:60342197T>C	ENST00000581291.1	-	0	1956																				breast(2)|kidney(1)|lung(2)	5						TGGGAGGGGCTGGGCATGGTT	0.488000													3	33					0	0	0.004672	0	0
ACTL9	284382	broad.mit.edu	37	19	8808007	8808007	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr19:8808007C>T	ENST00000324436.3	-	1	1165	c.1045G>A	c.(1045-1047)Ggc>Agc	p.G349S		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	349						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CCCTCGAAGCCGGTGAAGAGC	0.637000													4	38					0	0	0.009096	0	0
SMG5	23381	broad.mit.edu	37	1	156237465	156237465	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr1:156237465C>T	ENST00000361813.5	-	10	1057	c.913G>A	c.(913-915)Gtg>Atg	p.V305M	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	305					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TCTGAGTCCACGGAGCTACAG	0.572000													3	11					0	0	0.004672	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120316154	120316154	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr11:120316154T>A	ENST00000397843.2	+	16	1492	c.1326T>A	c.(1324-1326)gaT>gaA	p.D442E	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.D423E|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.D339E	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	442	RGSL.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CTGTTCCTGATGAAATGTCTG	0.353000			T	MLL	AML								3	86					0	0	0.004672	0	0
KIF1B	23095	broad.mit.edu	37	1	10363666	10363666	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr1:10363666C>T	ENST00000377093.4	+	21	2576	c.2423C>T	c.(2422-2424)gCc>gTc	p.A808V	KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.A808V|KIF1B_ENST00000377086.1_Intron	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GACGTCATGGCCACTGGGAAA	0.498000													4	57					0	0	0.009096	0	0
DGCR2	9993	broad.mit.edu	37	22	19028791	19028791	+	Silent	SNP	G	G	A			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr22:19028791G>A	ENST00000263196.7	-	9	1423	c.1176C>T	c.(1174-1176)ctC>ctT	p.L392L	DGCR2_ENST00000537045.1_Silent_p.L351L|DGCR2_ENST00000545799.1_3'UTR	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	392					cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					TCCTGCGGCCGAGGTTGAAGT	0.627000													5	47					0	0	0.021553	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			7	22					0	0	0.001984	0	0
DDX6	1656	broad.mit.edu	37	11	118625459	118625459	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr11:118625459C>G	ENST00000264018.4	-	13	1719	c.1414G>C	c.(1414-1416)Gaa>Caa	p.E472Q	DDX6_ENST00000526070.2_Missense_Mutation_p.E472Q|DDX6_ENST00000534980.1_Missense_Mutation_p.E472Q	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	472					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		CTGTGGTATTCTGCCACATAC	0.423000			T	IGH@	B-NHL								7	159					0	0	0.003080	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6083476	6083476	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr4:6083476G>A	ENST00000409021.3	-	6	1410	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C	JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R321C|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R321C|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R156C|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.R156C	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	321	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCTCGTGAGCGTTTCAGCTGT	0.542000													6	70					0	0	0.021553	0	0
AXIN2	8313	broad.mit.edu	37	17	63554319	63554319	+	Silent	SNP	C	C	T			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr17:63554319C>T	ENST00000307078.5	-	2	733	c.420G>A	c.(418-420)gaG>gaA	p.E140E	AXIN2_ENST00000375702.5_Silent_p.E140E|CTD-2535L24.2_ENST00000577662.1_3'UTR	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	140	RGS.				cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TGCTGTTGTTCTCAATGTACC	0.453000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				6	176					0	0	0.021553	0	0
ZNF821	55565	broad.mit.edu	37	16	71898871	71898871	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr16:71898871T>A	ENST00000425432.1	-	5	626	c.247A>T	c.(247-249)Aaa>Taa	p.K83*	ZNF821_ENST00000564134.1_Nonsense_Mutation_p.K83*|RP11-498D10.4_ENST00000569119.1_Intron|ZNF821_ENST00000313565.6_Nonsense_Mutation_p.K41*|ZNF821_ENST00000565601.1_Nonsense_Mutation_p.K83*|ZNF821_ENST00000564943.1_Intron|ZNF821_ENST00000446827.2_Nonsense_Mutation_p.K41*|RP11-498D10.4_ENST00000568581.1_Intron	NM_001201552.1	NP_001188481.1	O75541	ZN821_HUMAN	zinc finger protein 821	83					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						TTCTCCACTTTGACCACCCCT	0.522000													11	124					0	0	0.010729	0	0
GOLGA6C	653641	broad.mit.edu	37	15	75562493	75562493	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr15:75562493C>A	ENST00000300576.5	+	18	2035	c.2035C>A	c.(2035-2037)Ccg>Acg	p.P679T		NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	679										ovary(1)	1						TGACAACCCCCCGGTACAGCA	0.602000													5	107					1.024e-07	1.11709e-07	0.014758	1	0
TDRD6	221400	broad.mit.edu	37	6	46661019	46661019	+	Silent	SNP	G	G	A			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr6:46661019G>A	ENST00000544460.1	+	1	5408	c.5154G>A	c.(5152-5154)caG>caA	p.Q1718Q	TDRD6_ENST00000316081.6_Silent_p.Q1718Q	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1718					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AGATAAAGCAGACTCTTGGGT	0.318000													3	59					0	0	0.004672	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166791	19166791	+	Silent	SNP	G	G	A			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr1:19166791G>A	ENST00000375371.3	-	6	1843	c.1822C>T	c.(1822-1824)Ctg>Ttg	p.L608L		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	608					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGCAGTGTCAGCATCAGGAAG	0.632000													4	96					0	0	0.014758	0	0
C1orf158	93190	broad.mit.edu	37	1	12819314	12819314	+	Silent	SNP	C	C	T			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr1:12819314C>T	ENST00000288048.5	+	3	513	c.297C>T	c.(295-297)gaC>gaT	p.D99D	C1orf158_ENST00000376210.3_Silent_p.D61D	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	99										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GCACCTATGACGACCATTACA	0.567000													9	175					0	0	0.004482	0	0
CHAD	1101	broad.mit.edu	37	17	48545610	48545610	+	Missense_Mutation	SNP	C	C	G	rs147638039	byFrequency	TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr17:48545610C>G	ENST00000508540.1	-	1	717	c.565G>C	c.(565-567)Ggg>Cgg	p.G189R	ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000502667.1_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.G189R|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000504392.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	189					regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TCCAGGGCCCCGGGCTGCAGG	0.637000													3	113					0	0	0.004672	0	0
ARID1A	8289	broad.mit.edu	37	1	27089711	27089711	+	Silent	SNP	C	C	T			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr1:27089711C>T	ENST00000324856.7	+	8	3038	c.2667C>T	c.(2665-2667)ggC>ggT	p.G889G	ARID1A_ENST00000457599.2_Silent_p.G889G|ARID1A_ENST00000374152.2_Silent_p.G506G	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	889					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CACCAGGGGGCATGAACCGGA	0.567000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								4	42					0	0	0.009096	0	0
STIL	6491	broad.mit.edu	37	1	47717292	47717292	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr1:47717292C>A	ENST00000360380.3	-	18	3743	c.3380G>T	c.(3379-3381)gGa>gTa	p.G1127V	STIL_ENST00000337817.5_Missense_Mutation_p.G1127V|STIL_ENST00000396221.2_Missense_Mutation_p.G1110V|STIL_ENST00000243182.6_Missense_Mutation_p.G1127V|STIL_ENST00000371877.3_Missense_Mutation_p.G1128V			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1127					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TTGTAGGAGTCCATATCTCTT	0.378000													7	164					0.00198382	0.00212552	0.001984	1	0
KIAA0430	9665	broad.mit.edu	37	16	15718917	15718917	+	Silent	SNP	C	C	T			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr16:15718917C>T	ENST00000396368.3	-	9	2273	c.2067G>A	c.(2065-2067)ccG>ccA	p.P689P	KIAA0430_ENST00000548025.1_Silent_p.P686P|KIAA0430_ENST00000602337.1_Silent_p.P686P|KIAA0430_ENST00000540441.2_Silent_p.P546P|KIAA0430_ENST00000551742.1_Silent_p.P688P|KIAA0430_ENST00000344181.3_Intron	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	688						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CCGAGTTTTTCGGCGTCGACA	0.483000													12	116					0	0	0.016723	0	0
SLC17A8	246213	broad.mit.edu	37	12	100784777	100784777	+	Splice_Site	SNP	A	A	G			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr12:100784777A>G	ENST00000323346.5	+	3	667		c.e3-1		SLC17A8_ENST00000392989.3_Splice_Site	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8						neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TCTCATTTCCAGACAGCACAG	0.378000													8	92					0	0	0.006214	0	0
SRSF4	6429	broad.mit.edu	37	1	29475489	29475489	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr1:29475489C>G	ENST00000373795.4	-	6	1152	c.918G>C	c.(916-918)gaG>gaC	p.E306D	SRSF4_ENST00000546138.1_3'UTR|SRSF4_ENST00000466448.1_5'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	306	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						ccactctcctctcctgactcc	0.572000													8	173					0	0	0.003080	0	0
FES	2242	broad.mit.edu	37	15	91433125	91433125	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr15:91433125C>T	ENST00000328850.3	+	8	1124	c.982C>T	c.(982-984)Cag>Tag	p.Q328*	FES_ENST00000394300.3_Nonsense_Mutation_p.Q270*|FES_ENST00000394302.1_Nonsense_Mutation_p.Q270*|FES_ENST00000414248.2_Nonsense_Mutation_p.Q270*|FES_ENST00000450438.2_Nonsense_Mutation_p.Q270*|FES_ENST00000448367.1_3'UTR|FES_ENST00000444422.2_Nonsense_Mutation_p.Q328*	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	328					axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GTTCAGGCGGCAGGAGATGGT	0.637000													6	142					0	0	0.021553	0	0
RBM10	8241	broad.mit.edu	37	X	47045133	47045133	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chrX:47045133C>T	ENST00000377604.3	+	21	3116	c.2374C>T	c.(2374-2376)Cgg>Tgg	p.R792W	RBM10_ENST00000329236.7_Missense_Mutation_p.R714W|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000345781.6_Missense_Mutation_p.R715W	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	792					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TGAGATTCACCGGCGAGCCCA	0.572000													6	22					0	0	0.001984	0	0
LINC01158	100506421	broad.mit.edu	37	2	105440887	105440889	+	RNA	DEL	GTA	GTA	-			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr2:105440887_105440889delGTA	ENST00000458253.1	-	0	147				AC018730.1_ENST00000443988.1_RNA|AC018730.1_ENST00000447876.1_RNA|AC018730.1_ENST00000413121.1_RNA|AC018730.1_ENST00000454729.1_RNA																							ggtggtggtggtagtgatggtgg	0.591													2	4	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100345610	100345611	+	RNA	INS	-	-	AA	rs71686325		TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr7:100345610_100345611insAA	ENST00000542585.1	+	0	1171				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			gcaagactctgaaaaaaaaaaa	0.505													3	3	---	---	---	---					
AP003068.18	0	broad.mit.edu	37	11	64943050	64943050	+	RNA	DEL	T	T	-			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr11:64943050delT	ENST00000534819.1	-	0	891																											gcccggctaattttttttttg	0.522													2	4	---	---	---	---					
SRP54-AS1	100506157	broad.mit.edu	37	14	35390295	35390296	+	RNA	INS	-	-	T	rs113610910		TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr14:35390295_35390296insT	ENST00000556355.1	-	0	524																											CACATATTGCAttttttttttt	0.436													3	3	---	---	---	---					
AC009878.2	0	broad.mit.edu	37	15	26654871	26654871	+	RNA	DEL	A	A	-	rs113031284		TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr15:26654871delA	ENST00000451579.1	+	0	173																											acttcatctcaaaaaaaaaaa	0.458													4	5	---	---	---	---					
PRSS54	221191	broad.mit.edu	37	16	58319891	58319892	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr16:58319891_58319892delGT	ENST00000219301.4	-	5	865_866	c.471_472delAC	c.(469-474)accafs	p.TP157fs	PRSS54_ENST00000567164.1_Frame_Shift_Del_p.TP157fs|PRSS54_ENST00000543437.1_Frame_Shift_Del_p.TP58fs	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	157	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAGACTGGTGGTGTATGCAGCA	0.545													7	93	---	---	---	---					
MIR520H	574493	broad.mit.edu	37	19	54245839	54245840	+	RNA	INS	-	-	GT	rs111745142		TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr19:54245839_54245840insGT	ENST00000385126.1	+	0	74_75					NR_030215.1																						TTCCCTTTAGAGTTACTGTTTG	0.421													7	39	---	---	---	---					
