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
HSPG2	3339	broad.mit.edu	37	1	22169810	22169810	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr1:22169810G>A	ENST00000374695.3	-	66	8817	c.8738C>T	c.(8737-8739)tCc>tTc	p.S2913F		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2913	Ig-like C2-type 14.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TCCTGGGCTGGAGGGCTCAAT	0.632000													10	46					0	0	0.006214	0	0
CDC7	8317	broad.mit.edu	37	1	91978847	91978847	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr1:91978847C>A	ENST00000428239.1	+	7	1064	c.805C>A	c.(805-807)Caa>Aaa	p.Q269K	CDC7_ENST00000234626.6_Missense_Mutation_p.Q269K|CDC7_ENST00000430031.2_Missense_Mutation_p.Q241K	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	269	Protein kinase.				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		TCAGATTAAACAAGGAAAAGA	0.403000													4	29					1.23904e-05	3.95693e-05	0.000602	1	0
TRIM42	287015	broad.mit.edu	37	3	140401851	140401851	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr3:140401851C>T	ENST00000286349.3	+	2	1080	c.889C>T	c.(889-891)Cgc>Tgc	p.R297C		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	297						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCCATCCAGCCGCATCATCGA	0.552000													7	39					0	0	0.001984	0	0
MX2	4600	broad.mit.edu	37	21	42754440	42754440	+	Silent	SNP	C	C	T	rs145539486	byFrequency	TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr21:42754440C>T	ENST00000330714.3	+	5	865	c.681C>T	c.(679-681)ccC>ccT	p.P227P	MX2_ENST00000543692.1_Silent_p.P182P	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	227					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TTGACCTTCCCGGCATCACCA	0.602000													9	78					0	0	0.008291	0	0
FGF19	9965	broad.mit.edu	37	11	69518109	69518109	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr11:69518109C>T	ENST00000294312.3	-	2	1021	c.256G>A	c.(256-258)Gct>Act	p.A86T		NM_005117.2	NP_005108.1	O95750	FGF19_HUMAN	fibroblast growth factor 19	86					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import|positive regulation of JNK cascade	extracellular region	fibroblast growth factor receptor binding|growth factor activity			large_intestine(2)|lung(2)|skin(2)	6	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			GTCCGCAGAGCGACTGCCTTG	0.677000													5	19					0	0	0.001984	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	55					0	0	0.004672	0	0
EXD2	55218	broad.mit.edu	37	14	69701570	69701570	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr14:69701570C>G	ENST00000409014.1	+	7	1153	c.496C>G	c.(496-498)Cca>Gca	p.P166A	EXD2_ENST00000409949.1_Missense_Mutation_p.P166A|EXD2_ENST00000409018.3_Missense_Mutation_p.P291A|EXD2_ENST00000312994.5_Missense_Mutation_p.P291A|EXD2_ENST00000449989.1_Missense_Mutation_p.P166A|EXD2_ENST00000409242.1_Missense_Mutation_p.P166A|EXD2_ENST00000409675.1_Missense_Mutation_p.P166A|EXD2_ENST00000492815.1_3'UTR	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	166					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						GGTCGACATCCCATTTCGAAG	0.443000													9	45					0	0	0.000978	0	0
EVPL	2125	broad.mit.edu	37	17	74006565	74006565	+	Silent	SNP	A	A	G			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr17:74006565A>G	ENST00000301607.3	-	22	2974	c.2721T>C	c.(2719-2721)ccT>ccC	p.P907P	EVPL_ENST00000586740.1_Silent_p.P929P	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	907	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTGCTTGGGCAGGGCTCTCGG	0.642000													10	34					0	0	0.000978	0	0
THRA	7067	broad.mit.edu	37	17	38245690	38245690	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr17:38245690T>G	ENST00000450525.2	+	9	1705	c.1214T>G	c.(1213-1215)tTt>tGt	p.F405C	THRA_ENST00000264637.4_Intron|THRA_ENST00000546243.1_Missense_Mutation_p.F405C|THRA_ENST00000584985.1_Intron|THRA_ENST00000394121.4_Intron	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	0					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	CTCGAGGTCTTTGAGGATCAG	0.637000													8	29					0	0	0.003080	0	0
UBIAD1	29914	broad.mit.edu	37	1	11345928	11345928	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr1:11345928G>A	ENST00000376810.5	+	2	1083	c.757G>A	c.(757-759)Ggc>Agc	p.G253S	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	253					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		CATCCTCATCGGCCCCACGTT	0.607000													13	93					0	0	0.001368	0	0
AQP1	358	broad.mit.edu	37	7	30951738	30951738	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr7:30951738G>A	ENST00000311813.4	+	1	269	c.214G>A	c.(214-216)Ggc>Agc	p.G72S	AQP1_ENST00000509504.1_Missense_Mutation_p.G249S|AQP1_ENST00000434909.2_Missense_Mutation_p.G132S	NM_198098.2	NP_932766.1			aquaporin 1											kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)				CCACATCAGCGGCGCCCACCT	0.657000													6	50					0	0	0.001168	0	0
HIST1H2AM	8336	broad.mit.edu	37	6	27860847	27860847	+	Silent	SNP	A	A	G			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr6:27860847A>G	ENST00000359611.2	-	1	116	c.81T>C	c.(79-81)ccT>ccC	p.P27P	HIST1H3J_ENST00000479986.1_5'UTR	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	27					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						CTCGTCCTACAGGAAATTGGA	0.647000													12	54					0	0	0.001368	0	0
PBX2	5089	broad.mit.edu	37	6	32155509	32155509	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr6:32155509T>A	ENST00000375050.4	-	5	1055	c.785A>T	c.(784-786)tAt>tTt	p.Y262F		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	262							transcription factor binding	p.Y262F(3)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GGAGTAGAAATACTCATTTAG	0.517000													3	21					0	0	0.000248	0	0
KIAA0100	9703	broad.mit.edu	37	17	26968962	26968962	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr17:26968962C>G	ENST00000528896.2	-	7	785	c.711G>C	c.(709-711)caG>caC	p.Q237H	KIAA0100_ENST00000544884.1_Missense_Mutation_p.Q94H|KIAA0100_ENST00000389003.3_Missense_Mutation_p.Q94H	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	237						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GCAGTTGGCTCTGGAAGAGGC	0.547000													15	63					0	0	0.003163	0	0
CLPB	81570	broad.mit.edu	37	11	72145270	72145270	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr11:72145270G>T	ENST00000437826.2	-	1	156	c.7C>A	c.(7-9)Cgc>Agc	p.R3S	CLPB_ENST00000543042.1_5'UTR|CLPB_ENST00000340729.5_Silent_p.L83L|CLPB_ENST00000445069.2_Intron|CLPB_ENST00000294053.3_Silent_p.L83L|CLPB_ENST00000538039.1_Silent_p.L83L			Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	0					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TGGCAGCCGCGAGGCATTTGG	0.692000											OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	45					1.10923e-09	3.66046e-09	0.002780	1	0
IP6K3	117283	broad.mit.edu	37	6	33690810	33690810	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr6:33690810C>T	ENST00000451316.1	-	7	1455	c.920G>A	c.(919-921)cGg>cAg	p.R307Q	IP6K3_ENST00000293756.4_Missense_Mutation_p.R307Q	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	307					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						GAGGAGGGCCCGGAGCTGGTG	0.552000													4	38					0	0	0.000602	0	0
TBC1D17	79735	broad.mit.edu	37	19	50385367	50385367	+	Silent	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr19:50385367C>T	ENST00000221543.5	+	6	896	c.597C>T	c.(595-597)caC>caT	p.H199H	TBC1D17_ENST00000535102.2_Silent_p.H166H	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	199						intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		ACTCCTTCCACCACCTGCAGC	0.647000													12	260					0	0	0.001368	0	0
DMXL2	23312	broad.mit.edu	37	15	51741321	51741321	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr15:51741321G>A	ENST00000251076.5	-	43	9258	c.8971C>T	c.(8971-8973)Cga>Tga	p.R2991*	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Nonsense_Mutation_p.R2355*|DMXL2_ENST00000543779.2_Nonsense_Mutation_p.R2992*	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2991						cell junction|synaptic vesicle membrane	Rab GTPase binding	p.R2991*(2)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CCAATGTTTCGAAATATGGAC	0.438000													6	43					0	0	0.001168	0	0
DNAJC11	55735	broad.mit.edu	37	1	6699997	6699997	+	Silent	SNP	C	C	G			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr1:6699997C>G	ENST00000377577.5	-	11	1341	c.1218G>C	c.(1216-1218)ctG>ctC	p.L406L	DNAJC11_ENST00000542246.1_Silent_p.L368L|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000377573.5_Silent_p.L316L|DNAJC11_ENST00000294401.7_Intron|DNAJC11_ENST00000465508.1_5'UTR	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	406					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		GTTTGATGATCAGACGGTGCA	0.522000													6	27					0	0	0.001168	0	0
SHANK1	50944	broad.mit.edu	37	19	51200915	51200915	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr19:51200915C>T	ENST00000293441.1	-	13	1886	c.1868G>A	c.(1867-1869)cGc>cAc	p.R623H	SHANK1_ENST00000391814.1_Missense_Mutation_p.R623H|SHANK1_ENST00000359082.3_Missense_Mutation_p.R623H	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	623					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CTTGTCACTGCGGCTTTCTGC	0.547000													11	82					0	0	0.000978	0	0
FCRL5	83416	broad.mit.edu	37	1	157494060	157494060	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr1:157494060C>T	ENST00000368190.3	-	10	2340	c.2248G>A	c.(2248-2250)Gcc>Acc	p.A750T	FCRL5_ENST00000368191.3_Missense_Mutation_p.A665T|FCRL5_ENST00000361835.3_Intron|FCRL5_ENST00000356953.4_Intron			Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	0						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GTGGGCAGGGCCCACTCACCT	0.552000													7	28					0	0	0.001984	0	0
SLC7A8	23428	broad.mit.edu	37	14	23609754	23609754	+	Silent	SNP	G	G	A			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr14:23609754G>A	ENST00000316902.7	-	5	1439	c.714C>T	c.(712-714)ttC>ttT	p.F238F	SLC7A8_ENST00000453702.1_Silent_p.F35F|SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000422941.2_Intron|SLC7A8_ENST00000469263.1_Silent_p.F238F|SLC7A8_ENST00000529705.2_Silent_p.F133F	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	238					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	AGCCCTGAAGGAAAGCCAGTG	0.502000													13	164					0	0	0.001855	0	0
CALCA	796	broad.mit.edu	37	11	14990412	14990412	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr11:14990412C>T	ENST00000331587.4	-	4	477	c.359G>A	c.(358-360)aGg>aAg	p.R120K	CALCA_ENST00000361010.3_Intron|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000396372.2_Missense_Mutation_p.R120K|CALCA_ENST00000359642.3_Missense_Mutation_p.R120K|CALCA_ENST00000486207.1_Intron	NM_001741.2	NP_001732.1	P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	123					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	GGACATATCCCTTTTCTTTCC	0.493000													22	97					0	0	0.001882	0	0
KIAA0196	9897	broad.mit.edu	37	8	126067886	126067886	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr8:126067886T>C	ENST00000318410.7	-	17	2393	c.2044A>G	c.(2044-2046)Att>Gtt	p.I682V	KIAA0196_ENST00000517845.1_Missense_Mutation_p.I534V	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	682					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TCAGTAAAAATGGAAATAGCA	0.383000													29	113					0	0	0.001786	0	0
MYLK3	91807	broad.mit.edu	37	16	46766444	46766444	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr16:46766444G>A	ENST00000394809.4	-	4	1253	c.1138C>T	c.(1138-1140)Cgc>Tgc	p.R380C	MYLK3_ENST00000536476.1_Missense_Mutation_p.R39C	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	380					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TGGAGGCAGCGCCCGGTCCCA	0.687000													7	25					0	0	0.003080	0	0
AR	367	broad.mit.edu	37	X	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	rs71905623		TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q58L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667000									Androgen Insensitivity Syndrome				3	11					0	0	0.004672	0	0
ZNF17	7565	broad.mit.edu	37	19	57931031	57931031	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr19:57931031G>A	ENST00000596400.1	+	4	299	c.207G>A	c.(205-207)gaG>gaA	p.69_69insE	ZNF17_ENST00000307658.7_Silent_p.E59E|AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000595206.1_3'UTR|ZNF17_ENST00000601808.1_Silent_p.E57E																							AGGATGAGGAGGCACCTTCCA	0.493000													16	65					0	0	0.004007	0	0
OR10AD1	121275	broad.mit.edu	37	12	48596393	48596393	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr12:48596393C>T	ENST00000310248.2	-	1	777	c.683G>A	c.(682-684)aGc>aAc	p.S228N		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						GGAGGCTTTGCTGAGGATGGT	0.507000													7	41					0	0	0.001984	0	0
HOXC6	3223	broad.mit.edu	37	12	54422634	54422634	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr12:54422634G>T	ENST00000394331.3	+	2	1793	c.83G>T	c.(82-84)aGg>aTg	p.R28M	HOXC5_ENST00000512206.1_Intron|HOXC6_ENST00000243108.4_Missense_Mutation_p.R110M|HOXC4_ENST00000303406.4_Intron	NM_153693.3	NP_710160.1	P09630	HXC6_HUMAN	homeobox C6	110					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GAGCAGGGCAGGACTGCGCCC	0.468000													10	110					2.74318e-10	9.20593e-10	0.006214	1	0
CCKAR	886	broad.mit.edu	37	4	26483643	26483643	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr4:26483643C>T	ENST00000295589.3	-	5	1098	c.904G>A	c.(904-906)Gca>Aca	p.A302T		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	302					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AGGTTGGCTGCGGAGCTGTTA	0.612000													25	123					0	0	0.006320	0	0
ACIN1	22985	broad.mit.edu	37	14	23532678	23532678	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr14:23532678A>T	ENST00000262710.1	-	13	3205	c.2878T>A	c.(2878-2880)Ttg>Atg	p.L960M	ACIN1_ENST00000557515.1_Missense_Mutation_p.L201M|ACIN1_ENST00000357481.2_Missense_Mutation_p.L202M|ACIN1_ENST00000338631.6_Missense_Mutation_p.L233M|ACIN1_ENST00000605057.1_Missense_Mutation_p.L902M|ACIN1_ENST00000457657.1_Missense_Mutation_p.L920M|ACIN1_ENST00000397341.3_Missense_Mutation_p.L202M|ACIN1_ENST00000555053.1_Missense_Mutation_p.L947M	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	960					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGTGGGGGCAAGGCCACCTCT	0.517000													18	44					0	0	0.004990	0	0
SLC28A1	9154	broad.mit.edu	37	15	85488064	85488064	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr15:85488064G>C	ENST00000394573.1	+	18	2042	c.1840G>C	c.(1840-1842)Gag>Cag	p.E614Q	SLC28A1_ENST00000538177.1_Missense_Mutation_p.E448Q|SLC28A1_ENST00000537624.1_Missense_Mutation_p.E614Q|SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000286749.3_Missense_Mutation_p.E614Q	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	614					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAGTAGCTTTGAGATTTACCA	0.592000													14	48					0	0	0.002450	0	0
DNAH7	56171	broad.mit.edu	37	2	196729451	196729451	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr2:196729451G>C	ENST00000312428.6	-	41	7028	c.6928C>G	c.(6928-6930)Ccc>Gcc	p.P2310A		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2310	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGGTTCATGGGTTTTTTGCTT	0.433000													7	104					0	0	0.001984	0	0
MICALL1	85377	broad.mit.edu	37	22	38328571	38328571	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr22:38328571C>G	ENST00000215957.6	+	11	2154	c.2028C>G	c.(2026-2028)gaC>gaG	p.D676E	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	676						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					TCCAGGCTGACCAGTACATCC	0.632000													14	70					0	0	0.004007	0	0
WFDC8	90199	broad.mit.edu	37	20	44180733	44180733	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr20:44180733C>G	ENST00000357199.4	-	6	736	c.658G>C	c.(658-660)Gag>Cag	p.E220Q	WFDC8_ENST00000289953.2_Missense_Mutation_p.E220Q	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	220	WAP 3.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				GGGCACTCCTCATCCTGCAGG	0.423000													13	89					0	0	0.001855	0	0
SLC13A4	26266	broad.mit.edu	37	7	135390963	135390963	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr7:135390963C>T	ENST00000354042.4	-	4	1140	c.451G>A	c.(451-453)Gtg>Atg	p.V151M		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	151						integral to plasma membrane	sodium:sulfate symporter activity	p.V151M(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						ACGGCCTCCACGATGGGCATC	0.612000													10	59					0	0	0.008291	0	0
DUSP2	1844	broad.mit.edu	37	2	96809654	96809654	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr2:96809654C>T	ENST00000288943.4	-	4	938	c.853G>A	c.(853-855)Gac>Aac	p.D285N		NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	285	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity|regulation of apoptosis	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				TTAACGAAGTCAAAGGCCTCG	0.622000													7	21					0	0	0.001984	0	0
KCNH5	27133	broad.mit.edu	37	14	63468148	63468148	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr14:63468148C>T	ENST00000322893.7	-	4	602	c.334G>A	c.(334-336)Gca>Aca	p.A112T	KCNH5_ENST00000394964.2_Missense_Mutation_p.A54T|KCNH5_ENST00000420622.2_Missense_Mutation_p.A112T|KCNH5_ENST00000394968.1_Missense_Mutation_p.A54T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	112	PAC.				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTTATTGGTGCAATTTGCATA	0.423000													4	20					0	0	0.000602	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74904300	74904300	+	Silent	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr11:74904300C>T	ENST00000289575.5	+	9	1508	c.1113C>T	c.(1111-1113)ccC>ccT	p.P371P	SLCO2B1_ENST00000428359.2_Silent_p.P349P|SLCO2B1_ENST00000525650.1_Silent_p.P227P|SLCO2B1_ENST00000531756.1_Silent_p.P116P|SLCO2B1_ENST00000454962.2_Silent_p.P144P|SLCO2B1_ENST00000532236.1_Silent_p.P255P|SLCO2B1_ENST00000341411.4_Silent_p.P144P	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	371					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	TACGCCACCCCATCTTCCTGC	0.627000													19	80					0	0	0.007413	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074470	76074470	+	RNA	SNP	A	A	G			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr15:76074470A>G	ENST00000395215.3	+	0	649																		p.Q203R(4)									CGGTTACAGCAGACCATAAAG	0.577000													4	38					0	0	0.004482	0	0
ZNF568	374900	broad.mit.edu	37	19	37440779	37440779	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr19:37440779C>T	ENST00000415168.1	+	5	908	c.532C>T	c.(532-534)Cga>Tga	p.R178*	ZNF568_ENST00000333987.7_Nonsense_Mutation_p.R242*|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGACATGAGCGAATTCATGC	0.378000													7	46					0	0	0.001984	0	0
CYP1B1	1545	broad.mit.edu	37	2	38302533	38302533	+	Splice_Site	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr2:38302533C>T	ENST00000260630.3	-	2	401		c.e2-1		CYP1B1_ENST00000494864.1_Intron|CYP1B1_ENST00000407341.1_Splice_Site	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1						visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	GGTGCCCATGCTGGGGACAGA	0.667000													7	40					0	0	0.001984	0	0
ZNF618	114991	broad.mit.edu	37	9	116750680	116750680	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr9:116750680G>C	ENST00000288466.7	+	3	256	c.157G>C	c.(157-159)Gag>Cag	p.E53Q	ZNF618_ENST00000374126.5_Missense_Mutation_p.E53Q	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GCTGAGTGCCGAGCAAGGAAC	0.612000													6	22					0	0	0.001168	0	0
IGHV3-30	28439	broad.mit.edu	37	14	106791284	106791284	+	RNA	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr14:106791284C>T	ENST00000390613.2	-	0	151																											CCCCAGACTCCACCAGCTGCA	0.552000													10	237					0	0	0.003163	0	0
LAD1	3898	broad.mit.edu	37	1	201358343	201358343	+	Missense_Mutation	SNP	C	C	T	rs138881525		TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr1:201358343C>T	ENST00000391967.2	-	2	428	c.127G>A	c.(127-129)Gat>Aat	p.D43N	LAD1_ENST00000367313.3_Missense_Mutation_p.D57N	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	43						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GGAGCCTCATCGTCCGTGGTG	0.642000													8	34					0	0	0.003080	0	0
GRIK1	2897	broad.mit.edu	37	21	30934006	30934006	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr21:30934006G>T	ENST00000399914.1	-	14	2771	c.2250C>A	c.(2248-2250)tgC>tgA	p.C750*	GRIK1_ENST00000327783.4_Nonsense_Mutation_p.C765*|GRIK1_ENST00000309434.7_Nonsense_Mutation_p.C767*|GRIK1_ENST00000399909.1_Nonsense_Mutation_p.C750*|GRIK1_ENST00000389124.2_Nonsense_Mutation_p.C765*|GRIK1_ENST00000399913.1_Nonsense_Mutation_p.C765*|GRIK1_ENST00000535441.1_Nonsense_Mutation_p.C767*|GRIK1_ENST00000389125.3_Nonsense_Mutation_p.C750*|GRIK1_ENST00000399907.1_Nonsense_Mutation_p.C765*			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	765					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GAGTGAGGTTGCAGTTTCTCT	0.507000													11	58					7.03913e-09	2.28483e-08	0.001368	1	0
GPRC5A	9052	broad.mit.edu	37	12	13061574	13061574	+	Silent	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr12:13061574C>T	ENST00000014914.5	+	2	1281	c.391C>T	c.(391-393)Ctg>Ttg	p.L131L	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5, member A	131						cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	GCCCCTTTCCCTGTTGGTGAT	0.522000													48	183					0	0	0.003610	0	0
TRIM50	135892	broad.mit.edu	37	7	72730600	72730600	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr7:72730600T>C	ENST00000333149.2	-	6	1038	c.838A>G	c.(838-840)Acc>Gcc	p.T280A	TRIM50_ENST00000453152.1_Missense_Mutation_p.T280A	NM_178125.2	NP_835226.1	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	280	B30.2/SPRY.					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						TTCCACACGGTCAGCTTGATG	0.617000													8	42					0	0	0.003080	0	0
TLDC1	57707	broad.mit.edu	37	16	84520478	84520478	+	Silent	SNP	G	G	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr16:84520478G>T	ENST00000343629.6	-	5	899	c.717C>A	c.(715-717)ggC>ggA	p.G239G	TLDC1_ENST00000535580.1_Silent_p.G212G	NM_020947.3	NP_065998.3			TBC/LysM-associated domain containing 1																		CAAAACCCCTGCCCTGGTCCA	0.567000													9	32					0.000274275	0.000862008	0.004482	1	0
CNTRL	11064	broad.mit.edu	37	9	123860779	123860779	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr9:123860779C>T	ENST00000373855.1	+	7	997	c.737C>T	c.(736-738)tCa>tTa	p.S246L	CNTRL_ENST00000238341.5_Missense_Mutation_p.S246L|CNTRL_ENST00000373865.2_Missense_Mutation_p.S246L			Q7Z7A1	CNTRL_HUMAN	centriolin	246	LRRCT.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CACCTCCGTTCATTGGAAAGT	0.373000													8	27					0	0	0.004482	0	0
TUFM	7284	broad.mit.edu	37	16	28855381	28855381	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr16:28855381C>T	ENST00000313511.3	-	8	1102	c.964G>A	c.(964-966)Gga>Aga	p.G322R		NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	319						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						AGGTTATCTCCGGCCTCGGCC	0.607000													10	59					0	0	0.008291	0	0
TENM3	55714	broad.mit.edu	37	4	183721257	183721257	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr4:183721257C>T	ENST00000511685.1	+	28	7976	c.7853C>T	c.(7852-7854)gCg>gTg	p.A2618V	TENM3_ENST00000406950.2_Missense_Mutation_p.A2618V					teneurin transmembrane protein 3																		GAGGAGAAGGCGCGCATCCTG	0.751000													4	11					0	0	0.000602	0	0
PARP3	10039	broad.mit.edu	37	3	51978492	51978492	+	Silent	SNP	C	C	A			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr3:51978492C>A	ENST00000417220.2	+	5	887	c.399C>A	c.(397-399)acC>acA	p.T133T	PARP3_ENST00000398755.3_Silent_p.T140T|PARP3_ENST00000431474.1_Silent_p.T133T			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	133					DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGGAAAAGACCAAGAACAACT	0.517000													29	107					7.01153e-11	2.39359e-10	0.007291	1	0
DVL1	1855	broad.mit.edu	37	1	1273937	1273937	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr1:1273937A>C	ENST00000378888.5	-	12	1588	c.1304T>G	c.(1303-1305)aTg>aGg	p.M435R	DVL1_ENST00000378891.5_Missense_Mutation_p.M410R			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	435	DEP.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTTGAGCCACATGCGGTCGCG	0.672000													10	41					0	0	0.008291	0	0
B3GNT3	10331	broad.mit.edu	37	19	17918902	17918902	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr19:17918902C>T	ENST00000318683.6	+	2	433	c.286C>T	c.(286-288)Cag>Tag	p.Q96*	B3GNT3_ENST00000595387.1_Nonsense_Mutation_p.Q96*	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	96					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						TCCCCTGCTGCAGGACGTGCC	0.637000													4	27					0	0	0.000248	0	0
CABP7	164633	broad.mit.edu	37	22	30125152	30125152	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr22:30125152G>A	ENST00000216144.3	+	4	816	c.475G>A	c.(475-477)Gag>Aag	p.E159K		NM_182527.2	NP_872333.1	Q86V35	CABP7_HUMAN	calcium binding protein 7	159						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			lung(1)|skin(3)	4			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			GACGGAGGAGGAGAGCCACCT	0.617000													6	21					0	0	0.001168	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs148060711	by1000genomes	TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr21:14414844T>C	ENST00000507941.1	+	0	95																											ACTGGGCCTGTGCCAATGGCC	0.433000													3	50					0	0	0.001168	0	0
BCHE	590	broad.mit.edu	37	3	165547361	165547361	+	Silent	SNP	G	G	A	rs74458984		TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr3:165547361G>A	ENST00000264381.3	-	2	1627	c.1461C>T	c.(1459-1461)gcC>gcT	p.A487A	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	487					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	AAATTTCCTCGGCTTTTGTGT	0.403000													20	53					0	0	0.008871	0	0
SP8	221833	broad.mit.edu	37	7	20824941	20824943	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr7:20824941_20824943delGCC	ENST00000361443.4	-	3	676_678	c.439_441delGGC	c.(439-441)del	p.G147del	SP8_ENST00000418710.2_In_Frame_Del_p.G165del	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G165delG(1)|p.G147delG(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GCGCGGAGGAgccgccgccgccg	0.729													4	4	---	---	---	---					
TEK	7010	broad.mit.edu	37	9	27220064	27220064	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr9:27220064delG	ENST00000380036.4	+	21	3563	c.3121delG	c.(3121-3123)ggfs	p.G1041fs	TEK_ENST00000519097.1_Frame_Shift_Del_p.G893fs|TEK_ENST00000406359.4_Frame_Shift_Del_p.G998fs	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1041	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		ACCCTACTGCGGGATGACTTG	0.527													27	89	---	---	---	---					
LRRC26	389816	broad.mit.edu	37	9	140063896	140063896	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr9:140063896delG	ENST00000371542.3	-	1	607	c.500delC	c.(499-501)cgfs	p.P167fs	RP11-350O14.18_ENST00000568665.1_RNA	NM_001013653.2	NP_001013675.1	Q2I0M4	LRC26_HUMAN	leucine rich repeat containing 26	167						cytoplasm|cytoskeleton|voltage-gated potassium channel complex	ion channel activity|potassium channel regulator activity|protein binding					all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GCGCAGCAGCGGGAGCGCGCC	0.756													2	4	---	---	---	---					
C16orf71	146562	broad.mit.edu	37	16	4796953	4796955	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr16:4796953_4796955delGAG	ENST00000299320.5	+	8	1685_1687	c.1207_1209delGAG	c.(1207-1209)del	p.E409del	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_In_Frame_Del_p.E426del	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	409								p.E403delE(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CTCTGACAGTGAGGAGGAGGAGG	0.611													3	5	---	---	---	---					
KIZ-AS1	101929591	broad.mit.edu	37	20	21146788	21146789	+	RNA	INS	-	-	T	rs34056823		TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr20:21146788_21146789insT	ENST00000591761.1	-	0	5051				PLK1S1_ENST00000457464.1_RNA																							tgtattttGTATTTTTTTTTTT	0.401													5	5	---	---	---	---					
