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
IGHG2	3501	broad.mit.edu	37	14	106110981	106110981	+	RNA	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr14:106110981G>A	ENST00000390545.2	-	0	146																											AGGTGTGCACGCCGCTGGTCA	0.647000													10	29					0	0	0.069234	0	0
PCDHA8	56140	broad.mit.edu	37	5	140220964	140220964	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr5:140220964C>T	ENST00000531613.1	+	1	58	c.58C>T	c.(58-60)Ctc>Ttc	p.L20F	PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.L20F	NM_018911.2	NP_061734.1												p.L20F(1)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGCTTCTGCTCCTCGCAGC	0.547000													13	85					0	0	0.093190	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971000	21971000	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr9:21971000C>A	ENST00000304494.5	-	2	628	c.358G>T	c.(358-360)Gag>Tag	p.E120*	CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000530628.2_3'UTR|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E120*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E120*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	120			E -> A (in non-small cell lung carcinoma).|E -> K (in non-small cell lung carcinoma).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(13)|p.E120*(9)|p.E120K(4)|p.0(1)|p.A118fs*10(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGGCCCAGCTCCTCAGCCAGG	0.726000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			8	21					0.00829132	0.00892371	0.069234	1	0
CASP8	841	broad.mit.edu	37	2	202131241	202131241	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr2:202131241G>A	ENST00000358485.4	+	2	405	c.209G>A	c.(208-210)gGg>gAg	p.G70E	CASP8_ENST00000392259.2_Missense_Mutation_p.G11E|CASP8_ENST00000432109.2_Missense_Mutation_p.G11E|CASP8_ENST00000392258.3_Missense_Mutation_p.G11E|CASP8_ENST00000323492.7_Missense_Mutation_p.G11E|CASP8_ENST00000392266.3_Missense_Mutation_p.G11E|CASP8_ENST00000264274.9_Missense_Mutation_p.G11E|CASP8_ENST00000264275.5_Missense_Mutation_p.G11E	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	11	DED 1.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TATGATATTGGGGAACAACTG	0.398000										HNSCC(4;0.00038)			15	51					0	0	0.043863	0	0
CCDC14	64770	broad.mit.edu	37	3	123665761	123665761	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr3:123665761T>C	ENST00000485727.1	-	4	5226	c.634A>G	c.(634-636)Aca>Gca	p.T212A	CCDC14_ENST00000489746.1_Missense_Mutation_p.T212A|CCDC14_ENST00000488653.2_Missense_Mutation_p.T412A|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000433542.2_Missense_Mutation_p.T371A|CCDC14_ENST00000310351.4_Missense_Mutation_p.T252A			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	412						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		ACTGTTTTTGTATCTCGCACA	0.383000													31	104					0	0	0.037714	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496622	20496622	+	RNA	SNP	A	A	T	rs2601530	by1000genomes	TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr15:20496622A>T	ENST00000555186.1	+	0	675					NR_038836.1																						AAGTGGCCTCATGAAGGGGAA	0.438000													3	34					0	0	0.009096	0	0
LGMN	5641	broad.mit.edu	37	14	93172970	93172970	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr14:93172970C>T	ENST00000393218.2	-	13	1386	c.1049G>A	c.(1048-1050)cGt>cAt	p.R350H	LGMN_ENST00000555699.1_Intron|LGMN_ENST00000334869.4_Missense_Mutation_p.R350H|LGMN_ENST00000557434.1_Intron	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	350					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		GACGATCTTACGCACTGACTT	0.637000													13	32					0	0	0.020292	0	0
GCM2	9247	broad.mit.edu	37	6	10877388	10877388	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr6:10877388G>A	ENST00000379491.4	-	2	475	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	110			R -> W (in FIH; abolishes DNA binding ability).		cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TGTTTCAGCCGTGCCTTGTCG	0.562000													15	81					0	0	0.049695	0	0
LMCD1	29995	broad.mit.edu	37	3	8609159	8609159	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr3:8609159G>A	ENST00000157600.3	+	6	1205	c.973G>A	c.(973-975)Gat>Aat	p.D325N	LMCD1_ENST00000397386.3_Missense_Mutation_p.D213N|LMCD1_ENST00000454244.1_Missense_Mutation_p.D252N|LMCD1-AS1_ENST00000439407.1_RNA	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	325	LIM zinc-binding 2.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		GCGTGTGGAAGATCTGGCCTG	0.552000													51	248					0	0	0.048971	0	0
MUC16	94025	broad.mit.edu	37	19	9000504	9000504	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr19:9000504C>T	ENST00000397910.4	-	54	40683	c.40480G>A	c.(40480-40482)Gag>Aag	p.E13494K	MUC16_ENST00000380951.5_Missense_Mutation_p.E135K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13496	SEA 10.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCATGTTCTCCTCATACCGC	0.478000													11	48					0	0	0.069234	0	0
CCDC13	152206	broad.mit.edu	37	3	42799629	42799629	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr3:42799629C>A	ENST00000310232.6	-	2	292	c.209G>T	c.(208-210)aGc>aTc	p.S70I	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	70										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CTTCTCAAAGCTATTTTTCGA	0.498000													8	41					5.4927e-09	6.51938e-09	0.047766	1	0
APPL2	55198	broad.mit.edu	37	12	105597508	105597508	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr12:105597508A>G	ENST00000258530.3	-	9	902	c.677T>C	c.(676-678)tTa>tCa	p.L226S	APPL2_ENST00000549573.1_5'UTR|APPL2_ENST00000539978.2_Missense_Mutation_p.L183S|APPL2_ENST00000551662.1_Missense_Mutation_p.L232S	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	226	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	p.L226S(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AACGGAGGATAAAAAGCTGTC	0.433000													43	170					0	0	0.042209	0	0
MAGT1	84061	broad.mit.edu	37	X	77126359	77126359	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chrX:77126359G>C	ENST00000358075.6	-	3	518	c.432C>G	c.(430-432)aaC>aaG	p.N144K	MAGT1_ENST00000373336.3_Missense_Mutation_p.N112K	NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	112					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		p.N112K(1)		cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						AAAATATCCTGTTGGTGAATG	0.363000													15	26					0	0	0.033300	0	0
SLC28A3	64078	broad.mit.edu	37	9	86905135	86905135	+	Silent	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr9:86905135G>A	ENST00000376238.4	-	11	1132	c.1083C>T	c.(1081-1083)caC>caT	p.H361H	SLC28A3_ENST00000537648.1_Silent_p.H292H	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	361					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TCATGATGGCGTGGAGTTCAG	0.463000													12	50					0	0	0.105934	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6107523	6107523	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr4:6107523G>A	ENST00000409021.3	-	3	750	c.301C>T	c.(301-303)Cgc>Tgc	p.R101C	JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R101C|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R101C|JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000457227.2_Intron	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	101	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						TTGGCGGTGCGCGCCGCCTCC	0.677000													4	17					0	0	0.009096	0	0
PDILT	204474	broad.mit.edu	37	16	20410538	20410538	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr16:20410538A>G	ENST00000302451.4	-	2	333	c.85T>C	c.(85-87)Tcc>Ccc	p.S29P		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	29					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TGGATGCTGGAAACACCGGCG	0.602000													25	109					0	0	0.037714	0	0
DKK3	27122	broad.mit.edu	37	11	11986065	11986065	+	Silent	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:11986065C>T	ENST00000396505.2	-	8	1237	c.999G>A	c.(997-999)gcG>gcA	p.A333A	DKK3_ENST00000450094.2_Silent_p.A305A|DKK3_ENST00000525493.1_Silent_p.A347A|DKK3_ENST00000326932.4_Silent_p.A333A|DKK3_ENST00000527132.1_Intron	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	333					adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		GCTCCCTCAGCGCCATCTCTT	0.577000													15	118					0	0	0.049695	0	0
CNTN5	53942	broad.mit.edu	37	11	99690283	99690283	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:99690283A>G	ENST00000524871.1	+	4	354	c.64A>G	c.(64-66)Aaa>Gaa	p.K22E	CNTN5_ENST00000528682.1_Missense_Mutation_p.K22E|CNTN5_ENST00000279463.3_Missense_Mutation_p.K22E|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000527185.1_Missense_Mutation_p.K22E	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	22					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGAGTATTCAAAATCTCTTCC	0.308000													3	67					0	0	0.009096	0	0
COL27A1	85301	broad.mit.edu	37	9	116930231	116930231	+	Silent	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr9:116930231C>T	ENST00000356083.3	+	3	787	c.396C>T	c.(394-396)ccC>ccT	p.P132P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	132	Laminin G-like.|TSP N-terminal.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						AGTTCCTCCCCGGCAAGACGG	0.682000													26	69					0	0	0.030593	0	0
GPR20	2843	broad.mit.edu	37	8	142367698	142367698	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr8:142367698C>T	ENST00000377741.3	-	2	416	c.326G>A	c.(325-327)cGc>cAc	p.R109H		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	109						integral to plasma membrane	G-protein coupled receptor activity	p.R109H(1)		NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CACAGCGAAGCGCGTGGGCAG	0.617000													16	48					0	0	0.043863	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158692	26158692	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr6:26158692G>C	ENST00000289316.2	+	1	319	c.295G>C	c.(295-297)Gtg>Ctg	p.V99L	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.V99L	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	99					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						CCAGACGGCCGTGCGCCTGCT	0.617000													20	94					0	0	0.043863	0	0
GFRA3	2676	broad.mit.edu	37	5	137593489	137593489	+	Silent	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr5:137593489G>A	ENST00000274721.3	-	4	870	c.624C>T	c.(622-624)gcC>gcT	p.A208A	GFRA3_ENST00000378362.3_Silent_p.A177A	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	208					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CGTGGGGCTCGGCGGCCTTCT	0.726000													11	33					0	0	0.069234	0	0
OAZ3	51686	broad.mit.edu	37	1	151740703	151740703	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr1:151740703G>A	ENST00000321531.5	+	4	505	c.338G>A	c.(337-339)cGg>cAg	p.R113Q	OAZ3_ENST00000400999.1_5'UTR|OAZ3_ENST00000479764.1_Intron|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000315067.8_Missense_Mutation_p.R113Q|OAZ3_ENST00000453029.2_Missense_Mutation_p.R126Q			Q9UMX2	OAZ3_HUMAN	ornithine decarboxylase antizyme 3	110					cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis	cytosol|nucleus	ornithine decarboxylase inhibitor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)	CAAGGCAACCGGGAAAGGTGA	0.522000													5	17					0	0	0.014758	0	0
ETV6	2120	broad.mit.edu	37	12	12022544	12022544	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr12:12022544G>C	ENST00000396373.4	+	5	924	c.650G>C	c.(649-651)aGa>aCa	p.R217T		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	217						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R217T(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CCGGCTGAGAGAGCTCAGGGA	0.632000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								18	95					0	0	0.055883	0	0
LMCD1	29995	broad.mit.edu	37	3	8609125	8609125	+	Splice_Site	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr3:8609125G>A	ENST00000157600.3	+	6	1171		c.e6-1		LMCD1_ENST00000397386.3_Splice_Site|LMCD1_ENST00000454244.1_Splice_Site|LMCD1-AS1_ENST00000439407.1_RNA	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1						positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		CCCCTCCCCAGATAATATTCG	0.532000													44	230					0	0	0.111260	0	0
OR4C15	81309	broad.mit.edu	37	11	55322467	55322467	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:55322467C>A	ENST00000314644.2	+	1	685	c.685C>A	c.(685-687)Cac>Aac	p.H229N		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGTCATCAATCACTTTATGTG	0.468000										HNSCC(20;0.049)			11	33					3.86212e-05	4.22836e-05	0.069234	1	0
GRIN2A	2903	broad.mit.edu	37	16	10032166	10032166	+	Silent	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr16:10032166C>T	ENST00000396573.2	-	4	966	c.657G>A	c.(655-657)ctG>ctA	p.L219L	GRIN2A_ENST00000404927.2_Silent_p.L219L|GRIN2A_ENST00000330684.3_Silent_p.L219L|GRIN2A_ENST00000562109.1_Silent_p.L219L|GRIN2A_ENST00000396575.2_Silent_p.L219L|GRIN2A_ENST00000535259.1_Silent_p.L62L|GRIN2A_ENST00000566670.1_5'UTR	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	219					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGATCTTCTTCAGCTGGACTT	0.507000													8	49					0	0	0.047766	0	0
ZNF529	57711	broad.mit.edu	37	19	37039185	37039185	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr19:37039185C>T	ENST00000591340.1	-	5	433	c.275G>A	c.(274-276)gGa>gAa	p.G92E	ZNF529_ENST00000334116.7_5'UTR	NM_020951.4	NP_066002.3	Q6P280	ZN529_HUMAN	zinc finger protein 529	59					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					AATATCTTTTCCTACAGATAA	0.343000													4	15					0	0	0.014758	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260048	44260048	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr18:44260048C>T	ENST00000315087.7	-	7	1748	c.1088G>A	c.(1087-1089)cGa>cAa	p.R363Q	ST8SIA5_ENST00000538168.1_Missense_Mutation_p.R399Q|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.R332Q|ST8SIA5_ENST00000590497.1_5'UTR	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	363					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		p.R363Q(1)		kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GAGGATGCCTCGGCTGTGCAA	0.647000													17	55					0	0	0.038395	0	0
FBXW7	55294	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								27	87					0	0	0.108266	0	0
AFF1	4299	broad.mit.edu	37	4	88035995	88035995	+	Silent	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr4:88035995G>A	ENST00000307808.6	+	11	2409	c.1989G>A	c.(1987-1989)gtG>gtA	p.V663V	AFF1_ENST00000395146.4_Silent_p.V670V|AFF1_ENST00000544085.1_Silent_p.V301V	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	663						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AGCCAGCAGTGCCCCCCTCCA	0.607000													8	34					0	0	0.038147	0	0
CBX4	8535	broad.mit.edu	37	17	77807811	77807811	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr17:77807811C>T	ENST00000269397.4	-	5	1807	c.1630G>A	c.(1630-1632)Gac>Aac	p.D544N		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	544	Interaction with RNF2.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCGGTGACGTCGGTGATAATT	0.627000													22	65					0	0	0.069288	0	0
DENND5B	160518	broad.mit.edu	37	12	31613307	31613307	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr12:31613307G>A	ENST00000389082.5	-	4	1177	c.913C>T	c.(913-915)Cgc>Tgc	p.R305C	DENND5B_ENST00000536562.1_Missense_Mutation_p.R340C|DENND5B_ENST00000545147.1_5'UTR|DENND5B_ENST00000306833.6_Missense_Mutation_p.R340C|DENND5B_ENST00000354285.4_Missense_Mutation_p.R327C	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	305	DENN.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GTCATCAGGCGTTGATAATCT	0.393000													7	28					0	0	0.038147	0	0
WHAMMP3	339005	broad.mit.edu	37	15	23205094	23205094	+	RNA	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr15:23205094G>A	ENST00000400153.2	-	0	760					NR_003521.1																						AGTACTGGAAGAACGTGGTTG	0.373000													3	16					0	0	0.004672	0	0
FAM134C	162427	broad.mit.edu	37	17	40735595	40735595	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr17:40735595C>T	ENST00000309428.5	-	7	790	c.731G>A	c.(730-732)cGc>cAc	p.R244H	FAM134C_ENST00000585894.1_Missense_Mutation_p.R147H|FAM134C_ENST00000543197.1_Missense_Mutation_p.R49H	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	244						integral to membrane		p.R244H(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		AGCTCTGCGGCGTACTGTGGG	0.498000													10	27					0	0	0.058154	0	0
CYP4F3	4051	broad.mit.edu	37	19	15769113	15769113	+	Silent	SNP	T	T	C			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr19:15769113T>C	ENST00000221307.7	+	10	1203	c.1155T>C	c.(1153-1155)atT>atC	p.I385I	CYP4F3_ENST00000586182.1_Silent_p.I385I|CYP4F3_ENST00000585846.1_Silent_p.I385I|CYP4F3_ENST00000592424.1_3'UTR|CYP4F3_ENST00000591058.1_Silent_p.I385I	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	385					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CCATGTGCATTAAGGAGAGCC	0.597000													4	102					0	0	0.009096	0	0
MUC2	4583	broad.mit.edu	37	11	1097785	1097785	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:1097785A>C	ENST00000441003.2	+	36	6905	c.6878A>C	c.(6877-6879)gAc>gCc	p.D2293A	MUC2_ENST00000361558.6_3'UTR	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4655						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CTGGTGAACGACCCCTCCAAG	0.657000													7	12					0	0	0.093190	0	0
EIF4G1	1981	broad.mit.edu	37	3	184039612	184039612	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr3:184039612G>A	ENST00000342981.4	+	9	1654	c.1240G>A	c.(1240-1242)Gac>Aac	p.D414N	EIF4G1_ENST00000411531.1_Missense_Mutation_p.D374N|EIF4G1_ENST00000352767.3_Missense_Mutation_p.D421N|EIF4G1_ENST00000319274.6_Missense_Mutation_p.D414N|EIF4G1_ENST00000434061.2_Missense_Mutation_p.D218N|EIF4G1_ENST00000427845.1_Missense_Mutation_p.D327N|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000350481.5_Missense_Mutation_p.D250N|EIF4G1_ENST00000424196.1_Missense_Mutation_p.D421N|EIF4G1_ENST00000414031.1_Missense_Mutation_p.D374N|EIF4G1_ENST00000441154.1_Missense_Mutation_p.D250N|EIF4G1_ENST00000392537.2_Missense_Mutation_p.D327N|EIF4G1_ENST00000435046.2_Missense_Mutation_p.D218N|EIF4G1_ENST00000382330.3_Missense_Mutation_p.D421N|EIF4G1_ENST00000346169.2_Missense_Mutation_p.D414N	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	414					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.D414N(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACCAGCTGTGGACTTAAGCCC	0.632000													64	255					0	0	0.048971	0	0
TTF1	7270	broad.mit.edu	37	9	135277682	135277682	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr9:135277682G>A	ENST00000334270.2	-	2	566	c.527C>T	c.(526-528)gCa>gTa	p.A176V		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	176	N-terminal region (NRD) (By similarity).				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	p.A176V(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CTCCCAGGATGCAGCTTTCCT	0.493000													16	31					0	0	0.028581	0	0
HSD17B11	51170	broad.mit.edu	37	4	88312141	88312141	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr4:88312141G>T	ENST00000358290.4	-	1	397	c.82C>A	c.(82-84)Cct>Act	p.P28T	HSD17B11_ENST00000507286.1_Missense_Mutation_p.P28T	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	28					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		CTCCTCTTAGGAATAAAAAGC	0.468000													14	39					4.3838e-07	4.92693e-07	0.105934	1	0
RXRA	6256	broad.mit.edu	37	9	137328348	137328348	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr9:137328348G>A	ENST00000540193.1	+	9	1909	c.986G>A	c.(985-987)cGc>cAc	p.R329H	RXRA_ENST00000481739.1_Missense_Mutation_p.R426H|RXRA_ENST00000356384.4_3'UTR			P19793	RXRA_HUMAN	retinoid X receptor, alpha	426	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	p.R426H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	CCGGCTCTGCGCTCCATCGGG	0.612000													27	71					0	0	0.037714	0	0
WDR44	54521	broad.mit.edu	37	X	117575441	117575441	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chrX:117575441C>G	ENST00000254029.3	+	15	2480	c.2085C>G	c.(2083-2085)atC>atG	p.I695M	WDR44_ENST00000371822.5_Intron|WDR44_ENST00000371825.3_Missense_Mutation_p.I695M	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	695						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		p.I695M(2)		breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						CAAAATTGATCACAGCTGCAA	0.378000													26	31					0	0	0.108266	0	0
DIDO1	11083	broad.mit.edu	37	20	61511734	61511734	+	Silent	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr20:61511734G>A	ENST00000266070.4	-	16	5899	c.5574C>T	c.(5572-5574)gcC>gcT	p.A1858A	DIDO1_ENST00000395343.1_Silent_p.A1858A	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1858	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGTTATACGGGGCGTCCTGGA	0.622000													20	79					0	0	0.055883	0	0
SLC5A4	6527	broad.mit.edu	37	22	32614659	32614659	+	Missense_Mutation	SNP	C	C	T	rs150790454		TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr22:32614659C>T	ENST00000266086.4	-	15	1833	c.1822G>A	c.(1822-1824)Ggt>Agt	p.G608S	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	608					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTCTGCAAACCGCAGAACAAG	0.468000													9	59					0	0	0.069234	0	0
ARVCF	421	broad.mit.edu	37	22	19960526	19960526	+	Silent	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr22:19960526G>A	ENST00000263207.3	-	15	2763	c.2472C>T	c.(2470-2472)caC>caT	p.H824H	ARVCF_ENST00000406522.1_Silent_p.H755H|ARVCF_ENST00000406259.1_Silent_p.H818H|ARVCF_ENST00000401994.1_Silent_p.H761H|ARVCF_ENST00000344269.3_Silent_p.H761H	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	824					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TCTGCAGCACGTGTGACGCCG	0.672000													27	65					0	0	0.030593	0	0
MPP7	143098	broad.mit.edu	37	10	28413008	28413008	+	Silent	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr10:28413008G>A	ENST00000337532.5	-	9	843	c.567C>T	c.(565-567)aaC>aaT	p.N189N	MPP7_ENST00000540098.1_Silent_p.N189N|MPP7_ENST00000375732.1_Silent_p.N189N|MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000375719.3_Silent_p.N189N|MPP7_ENST00000445954.2_Silent_p.N64N	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	189	PDZ.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CTGGTATCCCGTTGACTTCCC	0.358000													8	78					0	0	0.038147	0	0
UTRN	7402	broad.mit.edu	37	6	145021235	145021235	+	Silent	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr6:145021235G>A	ENST00000367545.3	+	52	7665	c.7665G>A	c.(7663-7665)gaG>gaA	p.E2555E	UTRN_ENST00000367526.4_Silent_p.E110E	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2555					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCCATTTGGAGGCCAGCGCTG	0.353000													9	47					0	0	0.080935	0	0
C7orf63	79846	broad.mit.edu	37	7	89915651	89915651	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr7:89915651G>T	ENST00000389297.4	+	14	1845	c.1594G>T	c.(1594-1596)Gaa>Taa	p.E532*	C7orf63_ENST00000497910.1_Nonsense_Mutation_p.E514*|C7orf63_ENST00000316089.8_Nonsense_Mutation_p.E532*	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	532							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CATTGTTTTGGAAATCCAGTC	0.348000													13	63					4.3838e-07	4.92693e-07	0.105934	1	0
HRAS	3265	broad.mit.edu	37	11	534288	534288	+	Missense_Mutation	SNP	C	C	T	rs104894230		TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:534288C>T	ENST00000417302.1	-	2	222	c.35G>A	c.(34-36)gGc>gAc	p.G12D	HRAS_ENST00000311189.7_Missense_Mutation_p.G12D|HRAS_ENST00000451590.1_Missense_Mutation_p.G12D|HRAS_ENST00000397596.2_Missense_Mutation_p.G12D|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G12D	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12V(252)|p.G12D(48)|p.G12A(9)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GCCCACACCGCCGGCGCCCAC	0.647000	G12D(HS578T_BREAST)|G12V(T24_URINARY_TRACT)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			15	20					0	0	0.038395	0	0
IKBIP	121457	broad.mit.edu	37	12	99007411	99007411	+	Silent	SNP	C	C	T	rs142399666	by1000genomes	TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr12:99007411C>T	ENST00000342502.2	-	3	1416	c.1005G>A	c.(1003-1005)gaG>gaA	p.E335E	IKBIP_ENST00000420861.1_Silent_p.E229E|IKBIP_ENST00000393042.3_3'UTR	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	335					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TATCCTTAATCTCAGCTTGGA	0.308000													10	56					0	0	0.069234	0	0
C16orf78	123970	broad.mit.edu	37	16	49430551	49430551	+	Silent	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr16:49430551C>T	ENST00000299191.3	+	4	729	c.612C>T	c.(610-612)acC>acT	p.T204T		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	204										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						AGATGGAAACCATGAGGATGT	0.542000													5	28					0	0	0.014758	0	0
ZNF467	168544	broad.mit.edu	37	7	149461821	149461821	+	Silent	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr7:149461821C>T	ENST00000302017.3	-	5	2183	c.1770G>A	c.(1768-1770)ccG>ccA	p.P590P	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	590					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGAGCGGGGGCGGCGCCACCT	0.701000													4	14					0	0	0.009096	0	0
HIST1H2BJ	8970	broad.mit.edu	37	6	27100520	27100520	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr6:27100520G>T	ENST00000607124.1	-	1	9	c.10C>A	c.(10-12)Cca>Aca	p.P4T	HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.P4T|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.P4T			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	4					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						GACTTCGCTGGCTCTGGCATA	0.527000													10	63					2.17888e-05	2.40624e-05	0.058154	1	0
TSSC2	650368	broad.mit.edu	37	11	3427759	3427759	+	RNA	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:3427759C>T	ENST00000529482.1	+	0	876																											TGTCTGCACACGTCCTGCAGT	0.612000													3	41					0	0	0.009096	0	0
WDR11	55717	broad.mit.edu	37	10	122622272	122622272	+	Silent	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr10:122622272C>T	ENST00000263461.6	+	5	798	c.552C>T	c.(550-552)ttC>ttT	p.F184F		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	184						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GTATTGTTTTCATCTCAGACT	0.418000													39	133					0	0	0.111260	0	0
TRIM48	79097	broad.mit.edu	37	11	55032498	55032498	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:55032498A>G	ENST00000417545.2	+	2	253	c.167A>G	c.(166-168)tAc>tGc	p.Y56C		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	40						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCCTGTTTCTACCTCAACTGG	0.458000													23	96					0	0	0.091800	0	0
TGFBR3	7049	broad.mit.edu	37	1	92161270	92161270	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr1:92161270G>A	ENST00000212355.4	-	16	2861	c.2396C>T	c.(2395-2397)gCa>gTa	p.A799V	TGFBR3_ENST00000525962.1_Missense_Mutation_p.A799V|TGFBR3_ENST00000370399.2_Missense_Mutation_p.A798V	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	799					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CGTCAGGAGTGCTCCGATCAC	0.473000													17	34					0	0	0.038395	0	0
PPP4R4	57718	broad.mit.edu	37	14	94674875	94674875	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr14:94674875C>T	ENST00000304338.3	+	3	420	c.266C>T	c.(265-267)aCg>aTg	p.T89M	PPP4R4_ENST00000555690.1_3'UTR|PPP4R4_ENST00000328839.3_Missense_Mutation_p.T89M	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	89						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.T89M(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CCCACTGAGACGCTTCGGAGA	0.388000													4	10					0	0	0.009096	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553798	140553798	+	Missense_Mutation	SNP	G	G	A	rs137953621		TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr5:140553798G>A	ENST00000231137.3	+	1	1556	c.1382G>A	c.(1381-1383)cGt>cAt	p.R461H		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		461	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTTTGTCCGTGAGAACAAC	0.607000													18	85					0	0	0.076483	0	0
COX7A2	1347	broad.mit.edu	37	6	75950913	75950913	+	Silent	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr6:75950913C>T	ENST00000370081.2	-	3	493	c.183G>A	c.(181-183)ccG>ccA	p.P61P	COX7A2_ENST00000509698.1_Silent_p.P29P|COX7A2_ENST00000460985.1_Intron|COX7A2_ENST00000370089.2_Silent_p.P61P|COX7A2_ENST00000472311.2_Silent_p.P29P|COX7A2_ENST00000230459.4_Silent_p.P29P			P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)	29						mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			kidney(2)|lung(1)	3						TTTGCTTCTCCGGAACTTTAT	0.348000													30	143					0	0	0.064281	0	0
MEGF6	1953	broad.mit.edu	37	1	3428684	3428684	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr1:3428684C>T	ENST00000356575.4	-	8	1088	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	MEGF6_ENST00000294599.4_Missense_Mutation_p.E183K	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	288	EGF-like 5; calcium-binding (Potential).					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCGGCACATTCGTCCACATCT	0.647000													30	95					0	0	0.041601	0	0
SF1	7536	broad.mit.edu	37	11	64544069	64544069	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:64544069G>A	ENST00000377390.3	-	2	398	c.61C>T	c.(61-63)Cgc>Tgc	p.R21C	SF1_ENST00000433274.2_5'UTR|SF1_ENST00000377387.1_Missense_Mutation_p.R146C|SF1_ENST00000227503.9_Missense_Mutation_p.R21C|SF1_ENST00000334944.5_Missense_Mutation_p.R21C|SF1_ENST00000422298.2_5'UTR|SF1_ENST00000377394.3_Missense_Mutation_p.R21C	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	21					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TGGTTCCAGCGGCTCCTCTTC	0.428000													8	68					0	0	0.038147	0	0
AP3B2	8120	broad.mit.edu	37	15	83331629	83331629	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr15:83331629G>A	ENST00000261722.3	-	22	2800	c.2593C>T	c.(2593-2595)Cgg>Tgg	p.R865W	AP3B2_ENST00000535348.1_Missense_Mutation_p.R833W|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.R884W	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	865					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCAGCTACCCGGTGCAGCAGC	0.607000													5	24					0	0	0.021553	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													3	40					0	0	0.009096	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41753277	41753277	+	Silent	SNP	G	G	C			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr22:41753277G>C	ENST00000352645.4	+	23	3035	c.2778G>C	c.(2776-2778)ctG>ctC	p.L926L	ZC3H7B_ENST00000351589.4_Silent_p.L926L	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	942					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GCGAGGTGCTGAAGCAGAAGT	0.617000													13	88					0	0	0.020292	0	0
ST5	6764	broad.mit.edu	37	11	8772184	8772184	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:8772184G>A	ENST00000534127.1	-	5	449	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	ST5_ENST00000530438.1_Missense_Mutation_p.R22W|ST5_ENST00000357665.1_Missense_Mutation_p.R22W|ST5_ENST00000526757.1_Missense_Mutation_p.R22W|ST5_ENST00000313726.6_Missense_Mutation_p.R22W	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	22					positive regulation of ERK1 and ERK2 cascade		protein binding	p.R22W(1)		NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		AGAGTCCCCCGAGGGGCTTTA	0.552000													117	191					0	0	0.048971	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204210594	204210594	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr1:204210594G>C	ENST00000272203.3	-	17	2634	c.2318C>G	c.(2317-2319)cCt>cGt	p.P773R	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.P793R	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	773										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TTTTGTCCGAGGGGGCACAAC	0.572000													3	15					0	0	0.004672	0	0
CCDC8	83987	broad.mit.edu	37	19	46914919	46914919	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr19:46914919G>C	ENST00000307522.3	-	1	1922	c.1149C>G	c.(1147-1149)caC>caG	p.H383Q		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	383			H -> Y (in dbSNP:rs34186470).			plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CCTCTTCCCTGTGGTTATCTG	0.582000													42	136					0	0	0.111260	0	0
FAM43A	131583	broad.mit.edu	37	3	194407683	194407683	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr3:194407683C>A	ENST00000329759.4	+	1	1062	c.128C>A	c.(127-129)cCc>cAc	p.P43H		NM_153690.4	NP_710157.2	Q8N2R8	FA43A_HUMAN	family with sequence similarity 43, member A	43										breast(2)|central_nervous_system(1)|lung(6)|skin(1)	10	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		CGGGCGTGCCCCGAAGGCGCG	0.687000													7	18					0.0293803	0.0308372	0.029380	1	0
SRPK2	6733	broad.mit.edu	37	7	104801043	104801043	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr7:104801043C>A	ENST00000357311.3	-	6	670	c.499G>T	c.(499-501)Gaa>Taa	p.E167*	SRPK2_ENST00000393651.3_Nonsense_Mutation_p.E178*|SRPK2_ENST00000489828.1_Nonsense_Mutation_p.E167*	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	167	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.E167*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						CCAAGTACTTCGAAGACCATG	0.473000													9	26					1.76689e-08	2.07774e-08	0.058154	1	0
KDM3B	51780	broad.mit.edu	37	5	137762666	137762666	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr5:137762666C>T	ENST00000314358.5	+	18	4614	c.4414C>T	c.(4414-4416)Cga>Tga	p.R1472*	KDM3B_ENST00000542866.1_Nonsense_Mutation_p.R504*|KDM3B_ENST00000394866.1_Nonsense_Mutation_p.R1128*	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1472					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TCTTCCAGAACGACTACGGTC	0.463000													8	28					0	0	0.047766	0	0
KSR2	283455	broad.mit.edu	37	12	117914339	117914339	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr12:117914339G>A	ENST00000425217.1	-	17	2479	c.2425C>T	c.(2425-2427)Cgc>Tgc	p.R809C	KSR2_ENST00000339824.5_Missense_Mutation_p.R838C|KSR2_ENST00000302438.5_3'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	838	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACAGCTGGCGGATGATCTCT	0.582000													7	7					0	0	0.038147	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_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)			9	25					0	0	0.047766	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95481176	95481176	+	RNA	SNP	G	G	C			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr2:95481176G>C	ENST00000432432.2	-	0	2184					NR_040113.1																						AGTTTCTAAAGCCAATGACTT	0.328000													17	100					0	0	0.033300	0	0
DDX54	79039	broad.mit.edu	37	12	113599136	113599136	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr12:113599136T>G	ENST00000314045.7	-	19	2379	c.2352A>C	c.(2350-2352)gaA>gaC	p.E784D	DDX54_ENST00000306014.5_Missense_Mutation_p.E784D|DDX54_ENST00000549271.1_5'UTR	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	784					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ATGCCCCTTCTTCGTCCGAGT	0.577000													10	51					0	0	0.080935	0	0
NUP160	23279	broad.mit.edu	37	11	47833636	47833636	+	Silent	SNP	A	A	G			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:47833636A>G	ENST00000378460.2	-	17	2267	c.2221T>C	c.(2221-2223)Tta>Cta	p.L741L	NUP160_ENST00000528071.1_Silent_p.L627L|NUP160_ENST00000528501.1_3'UTR|NUP160_ENST00000530326.1_Silent_p.L627L	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	741					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AGCCTCATTAACAGCTGCTGT	0.433000													5	42					0	0	0.014758	0	0
WHAMMP3	339005	broad.mit.edu	37	15	23205108	23205108	+	RNA	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr15:23205108C>T	ENST00000400153.2	-	0	746					NR_003521.1																						GTGGTTGCCACGGTAACTAAT	0.393000													3	21					0	0	0.004672	0	0
AGBL2	79841	broad.mit.edu	37	11	47707594	47707594	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:47707594C>T	ENST00000525123.1	-	11	1924	c.1639G>A	c.(1639-1641)Gaa>Aaa	p.E547K	AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Missense_Mutation_p.E509K|AGBL2_ENST00000298861.4_Missense_Mutation_p.E547K|AGBL2_ENST00000357610.3_Missense_Mutation_p.E547K	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	547					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TCTCTTTCTTCAAGAAGTCTA	0.383000													14	38					0	0	0.024245	0	0
ISLR2	57611	broad.mit.edu	37	15	74425583	74425583	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr15:74425583C>T	ENST00000361742.3	+	4	1257	c.488C>T	c.(487-489)gCg>gTg	p.A163V	ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000453268.2_Missense_Mutation_p.A163V|ISLR2_ENST00000445793.1_Missense_Mutation_p.A163V|ISLR2_ENST00000435464.1_Missense_Mutation_p.A163V|ISLR2_ENST00000419208.1_Missense_Mutation_p.A163V|ISLR2_ENST00000565540.1_Missense_Mutation_p.A163V|ISLR2_ENST00000565159.1_Missense_Mutation_p.A163V	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	163					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CGTACGCTGGCGCCTGGCACC	0.652000													22	95					0	0	0.076483	0	0
ZNF614	80110	broad.mit.edu	37	19	52519599	52519599	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr19:52519599G>A	ENST00000270649.6	-	5	1796	c.1252C>T	c.(1252-1254)Cag>Tag	p.Q418*	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q418*(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGAGTTCGCTGATGTATAACG	0.423000													38	144					0	0	0.092188	0	0
NOTCH1	4851	broad.mit.edu	37	9	139413214	139413214	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr9:139413214C>T	ENST00000277541.6	-	6	1003	c.928G>A	c.(928-930)Ggg>Agg	p.G310R		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	310	EGF-like 8; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.G310R(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGGCAGGTCCCGCCGTTCTGG	0.627000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			6	17					0	0	0.058154	0	0
DNAH2	146754	broad.mit.edu	37	17	7673916	7673916	+	Silent	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr17:7673916C>T	ENST00000572933.1	+	26	5600	c.4140C>T	c.(4138-4140)ctC>ctT	p.L1380L	DNAH2_ENST00000389173.2_Silent_p.L1380L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1380	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGACTCAGCTCGACATAGTAC	0.542000													13	53					0	0	0.020292	0	0
ATP10A	57194	broad.mit.edu	37	15	25961901	25961901	+	Silent	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr15:25961901C>T	ENST00000356865.6	-	9	1863	c.1752G>A	c.(1750-1752)acG>acA	p.T584T		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	584					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GATCCGGGGACGTGACGACGA	0.592000													13	86					0	0	0.105934	0	0
FLG	2312	broad.mit.edu	37	1	152281685	152281685	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr1:152281685C>T	ENST00000368799.1	-	3	5712	c.5677G>A	c.(5677-5679)Gac>Aac	p.D1893N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1893	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGAGCTGTCGGCCCGAGAG	0.572000									Ichthyosis				56	235					0	0	0.048971	0	0
CLVS2	134829	broad.mit.edu	37	6	123332281	123332281	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr6:123332281C>T	ENST00000275162.4	+	3	1876	c.541C>T	c.(541-543)Cga>Tga	p.R181*	CLVS2_ENST00000368438.1_Nonsense_Mutation_p.R35*	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	181	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.R181*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						AAGTATGCTGCGATTAGCTAT	0.393000													9	54					0	0	0.069234	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522727	95522727	+	RNA	SNP	C	C	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr2:95522727C>A	ENST00000432432.2	-	0	300					NR_040113.1													p.R64L(2)									CTGCTTGTCCCGGGCGTCCAG	0.731000													4	62					1.024e-07	1.1931e-07	0.014758	1	0
PTPRA	5786	broad.mit.edu	37	20	2969023	2969023	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr20:2969023C>T	ENST00000216877.6	+	8	1014	c.614C>T	c.(613-615)aCc>aTc	p.T205I	PTPRA_ENST00000318266.5_Missense_Mutation_p.T205I|PTPRA_ENST00000380393.3_Missense_Mutation_p.T214I|PTPRA_ENST00000358719.4_Missense_Mutation_p.T70I|PTPRA_ENST00000425918.2_Missense_Mutation_p.T225I|PTPRA_ENST00000356147.3_Missense_Mutation_p.T205I|PTPRA_ENST00000399903.2_Missense_Mutation_p.T214I	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	214					axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.T214I(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TCCCCAAGCACCAACAGGAAA	0.547000													15	56					0	0	0.024245	0	0
PIK3CA	5290	broad.mit.edu	37	3	178916944	178916944	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr3:178916944A>G	ENST00000263967.3	+	2	488	c.331A>G	c.(331-333)Aag>Gag	p.K111E		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	111					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.K111E(13)|p.K111_L113delKIL(2)		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)			CCGTGAAGAAAAGATCCTCAA	0.333000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			23	64					0	0	0.083992	0	0
NTSR2	23620	broad.mit.edu	37	2	11802096	11802096	+	Missense_Mutation	SNP	G	G	A	rs145680805		TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr2:11802096G>A	ENST00000306928.5	-	2	929	c.895C>T	c.(895-897)Ctc>Ttc	p.L299F		NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN	neurotensin receptor 2	299					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	ACTTAACTGAGAACCTGGACG	0.577000													20	89					0	0	0.049695	0	0
MT-ND4	4538	broad.mit.edu	37	MT	11154	11154	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chrM:11154T>C	ENST00000361381.2	+	1	395	c.395T>C	c.(394-396)aTc>aCc	p.132_132insT						mitochondrially encoded NADH dehydrogenase 4											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						CACCTTGGCTATCATCACCCG	0.443000													2	0					0	0	0.004672	0	0
ADAM21	8747	broad.mit.edu	37	14	70924430	70924430	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr14:70924430C>T	ENST00000603540.1	+	2	472	c.214C>T	c.(214-216)Cac>Tac	p.H72Y	ADAM21_ENST00000267499.3_Missense_Mutation_p.H72Y|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	72					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GGGCCAGAAACACGTTGTTCA	0.527000													15	109					0	0	0.043863	0	0
TDRD3	81550	broad.mit.edu	37	13	61084005	61084005	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr13:61084005C>G	ENST00000196169.3	+	9	1476	c.688C>G	c.(688-690)Ctt>Gtt	p.L230V	TDRD3_ENST00000377881.2_Missense_Mutation_p.L230V|TDRD3_ENST00000535286.1_Missense_Mutation_p.L323V|TDRD3_ENST00000377894.2_Missense_Mutation_p.L230V	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	230	UBA.				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	p.L230V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		ACTGAACGTACTTCTTACAAG	0.408000													18	76					0	0	0.055883	0	0
OAZ1	4946	broad.mit.edu	37	19	2271954	2271954	+	Splice_Site	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr19:2271954G>A	ENST00000583542.3	+	4	543		c.e4+1		OAZ1_ENST00000602676.1_Splice_Site|OAZ1_ENST00000582888.3_Splice_Site|OAZ1_ENST00000322297.4_Splice_Site|OAZ1_ENST00000592727.1_Splice_Site			P54368	OAZ1_HUMAN	ornithine decarboxylase antizyme 1						polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	ornithine decarboxylase inhibitor activity			endometrium(1)|lung(2)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	L-Ornithine(DB00129)	GCAAGGACAGGTGAGGGGCAA	0.667000													5	12					0	0	0.021553	0	0
PKHD1	5314	broad.mit.edu	37	6	51907774	51907774	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr6:51907774G>A	ENST00000371117.3	-	27	3255	c.2980C>T	c.(2980-2982)Cgg>Tgg	p.R994W	PKHD1_ENST00000340994.4_Missense_Mutation_p.R994W	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	994	IPT/TIG 4.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.R994W(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATCAAGATCCGATGCATTCCA	0.453000													17	63					0	0	0.043863	0	0
CATSPERD	257062	broad.mit.edu	37	19	5772836	5772836	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr19:5772836G>T	ENST00000381624.3	+	20	1862	c.1801G>T	c.(1801-1803)Gag>Tag	p.E601*	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	601						integral to membrane											CATCGACGCCGAGTATGTGTT	0.607000													22	69					2.98393e-07	3.41405e-07	0.076483	1	0
TRIOBP	11078	broad.mit.edu	37	22	38121554	38121554	+	Silent	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr22:38121554C>T	ENST00000406386.3	+	7	3246	c.2991C>T	c.(2989-2991)ccC>ccT	p.P997P	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	997					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CTGTGTACCCCGCTGCCTATG	0.652000													25	124					0	0	0.083992	0	0
EPHA7	2045	broad.mit.edu	37	6	93967961	93967961	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr6:93967961C>A	ENST00000369303.4	-	11	2150	c.1966G>T	c.(1966-1968)Ggg>Tgg	p.G656W		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	656	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.G656W(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TCTCTTTTCCCTGGAAGTTTC	0.383000													20	79					3.83957e-06	4.27741e-06	0.076483	1	0
ACAD10	80724	broad.mit.edu	37	12	112167625	112167625	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr12:112167625G>T	ENST00000455480.2	+	11	1529	c.1352G>T	c.(1351-1353)cGc>cTc	p.R451L	ACAD10_ENST00000392636.2_Missense_Mutation_p.R22L|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.R420L|ACAD10_ENST00000313698.4_Missense_Mutation_p.R420L	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	420							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TATATTCCACGCCAGGTACGA	0.507000													13	38					6.72482e-11	8.21204e-11	0.024245	1	0
UBAP2	55833	broad.mit.edu	37	9	33923478	33923479	+	Splice_Site	INS	-	-	G			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr9:33923478_33923479insG	ENST00000379238.1	-	25	2914		c.e25-2		UBAP2_ENST00000360802.1_Splice_Site|UBAP2_ENST00000379239.4_Splice_Site|UBAP2_ENST00000539807.1_Splice_Site|UBAP2_ENST00000379235.1_Splice_Site|UBAP2_ENST00000449054.1_Splice_Site			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TGGAGGGACCTGGGGGGGCAAG	0.594													53	279	---	---	---	---					
VPS13A	23230	broad.mit.edu	37	9	79930243	79930244	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr9:79930243_79930244insT	ENST00000360280.3	+	38	4747_4748	c.4487_4488insT	c.(4486-4488)tgtfs	p.C1496fs	VPS13A_ENST00000357409.5_Frame_Shift_Ins_p.C1496fs|VPS13A_ENST00000376636.3_Frame_Shift_Ins_p.C1457fs|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Frame_Shift_Ins_p.C1496fs	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1496					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGAGATGGTTGTGTGACTGATG	0.396													40	72	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651191	1651199	+	In_Frame_Del	DEL	GGCTGTGGA	GGCTGTGGA	-	rs71025763		TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:1651191_1651199delGGCTGTGGA	ENST00000399676.2	+	1	159_167	c.121_129delGGCTGTGGA	c.(121-129)del	p.GCG47del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	47						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ctgtggctccggctgtggaggctgtgggg	0.713													25	26	---	---	---	---					
HS3ST6	64711	broad.mit.edu	37	16	1961723	1961737	+	In_Frame_Del	DEL	GCGGGGACGGCTGCC	GCGGGGACGGCTGCC	-	rs79686696	by1000genomes	TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr16:1961723_1961737delGCGGGGACGGCTGCC	ENST00000454677.2	-	2	999_1013	c.934_948delGGCAGCCGTCCCCGC	c.(934-948)del	p.GSRPR312del	HS3ST6_ENST00000443547.1_In_Frame_Del_p.GSRPR264del|HS3ST6_ENST00000293937.3_In_Frame_Del_p.GSRPR295del			C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	264										endometrium(2)|lung(2)	4						TGCCCAGGCAGCGGGGACGGCTGCCGCCCTGGGCC	0.679													9	23	---	---	---	---					
DYRK1B	9149	broad.mit.edu	37	19	40321135	40321137	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr19:40321135_40321137delCTC	ENST00000593685.1	-	4	718_720	c.250_252delGAG	c.(250-252)del	p.E84del	DYRK1B_ENST00000323039.5_In_Frame_Del_p.E84del|DYRK1B_ENST00000597639.1_In_Frame_Del_p.E84del|DYRK1B_ENST00000348817.3_In_Frame_Del_p.E84del|DYRK1B_ENST00000601972.1_In_Frame_Del_p.E84del|DYRK1B_ENST00000430012.2_In_Frame_Del_p.E84del			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	84					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GGACCTTCTTCTCCTTCTTGTTG	0.581													22	82	---	---	---	---					
