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
SPATA4	132851	broad.mit.edu	37	4	177113947	177113947	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr4:177113947C>A	ENST00000280191.2	-	4	627	c.519G>T	c.(517-519)caG>caT	p.Q173H	SPATA4_ENST00000515234.1_5'UTR	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	173					apoptosis|spermatogenesis					NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		GTAAACGCATCTGGTAGCTAT	0.353000													9	41					5.4927e-09	5.93806e-09	1	1	0
DHFR	1719	broad.mit.edu	37	5	79945214	79945214	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr5:79945214T>C	ENST00000439211.2	-	3	729	c.236A>G	c.(235-237)gAa>gGa	p.E79G	DHFR_ENST00000511032.1_Missense_Mutation_p.E79G|DHFR_ENST00000505337.1_Missense_Mutation_p.E79G|DHFR_ENST00000504396.1_Missense_Mutation_p.E27G|DHFR_ENST00000513048.1_5'UTR	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	79	DHFR.				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	TTACTTGAGTTCTCTGCTGAG	0.348000													4	27					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112600941	112600941	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr12:112600941C>T	ENST00000550722.1	-	75	12982	c.12587G>A	c.(12586-12588)cGc>cAc	p.R4196H	HECTD4_ENST00000430131.2_Missense_Mutation_p.R3920H|HECTD4_ENST00000377560.5_Missense_Mutation_p.R4170H	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4									p.R4170H(1)|p.R3920H(1)									GAACGGGATGCGCTCCTGGTT	0.612000													4	166					0	0	1	0	0
GALR2	8811	broad.mit.edu	37	17	74071243	74071243	+	Silent	SNP	C	C	T			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr17:74071243C>T	ENST00000329003.3	+	1	369	c.279C>T	c.(277-279)ttC>ttT	p.F93F		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	93					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GCTGGGTGTTCGGCTCGCTGC	0.632000													11	101					0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	40818255	40818255	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr4:40818255C>A	ENST00000295974.8	-	18	2760	c.2131G>T	c.(2131-2133)Gta>Tta	p.V711L	APBB2_ENST00000504305.1_Missense_Mutation_p.V163L|APBB2_ENST00000513140.1_Missense_Mutation_p.V689L|APBB2_ENST00000508593.1_Missense_Mutation_p.V712L|APBB2_ENST00000506352.1_Missense_Mutation_p.V690L|RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000543538.1_Missense_Mutation_p.V163L|APBB2_ENST00000502841.1_Missense_Mutation_p.V163L	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	711	PID 2.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GGCCTGGCTACCAAGCACTTC	0.403000													18	98					5.03518e-11	5.7545e-11	1	1	0
SHANK1	50944	broad.mit.edu	37	19	51190015	51190015	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr19:51190015T>C	ENST00000293441.1	-	19	2462	c.2444A>G	c.(2443-2445)tAt>tGt	p.Y815C	SHANK1_ENST00000391814.1_Missense_Mutation_p.Y823C|SHANK1_ENST00000391813.1_Missense_Mutation_p.Y202C|SHANK1_ENST00000359082.3_Missense_Mutation_p.Y806C	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	815					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)		AGCCATCTGATACACGGTCCG	0.687000													4	55					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39262039	39262039	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr17:39262039C>G	ENST00000391415.1	+	1	456	c.399C>G	c.(397-399)agC>agG	p.S133R		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	133	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament		p.S133R(1)|p.S121R(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						gtgtgtccagctgctgcaagc	0.652000													3	39					0	0	1	0	0
SLC45A1	50651	broad.mit.edu	37	1	8399632	8399632	+	Silent	SNP	C	C	A	rs140511753		TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr1:8399632C>A	ENST00000471889.1	+	8	2239	c.1854C>A	c.(1852-1854)acC>acA	p.T618T	SLC45A1_ENST00000377479.2_Silent_p.T652T|SLC45A1_ENST00000289877.8_Silent_p.T618T			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	618					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTGGGGACCGGGCTTGCCA	0.597000													4	164					0.150653	0.150653	1	1	0
CROCCP3	0	broad.mit.edu	37	1	16812982	16812982	+	RNA	SNP	A	A	C	rs139388756	by1000genomes	TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr1:16812982A>C	ENST00000263511.4	-	0	1329					NR_023386.1																						AGGTCCTTCTAGTGGAGCACC	0.667000													4	7					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123875999	123875999	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr9:123875999G>A	ENST00000373855.1	+	10	1602	c.1342G>A	c.(1342-1344)Gca>Aca	p.A448T	CNTRL_ENST00000238341.5_Missense_Mutation_p.A448T|CNTRL_ENST00000373865.2_Missense_Mutation_p.A448T			Q7Z7A1	CNTRL_HUMAN	centriolin	448					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						AAAAATAAGTGCAGGttaaaa	0.308000													8	34					0	0	1	0	0
PCDHA7	0	broad.mit.edu	37	5	140215321	140215321	+	Silent	SNP	C	C	T			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr5:140215321C>T	ENST00000525929.1	+	1	1353	c.1353C>T	c.(1351-1353)aaC>aaT	p.N451N	PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Silent_p.N451N	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACGACAACGCCCCGGCGT	0.677000													25	147					0	0	1	0	0
PDE9A	5152	broad.mit.edu	37	21	44190886	44190886	+	Missense_Mutation	SNP	G	G	A	rs150892798	byFrequency	TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr21:44190886G>A	ENST00000291539.6	+	18	1724	c.1664G>A	c.(1663-1665)cGg>cAg	p.R555Q	PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398224.3_Missense_Mutation_p.R428Q|PDE9A_ENST00000398227.3_Missense_Mutation_p.R395Q|PDE9A_ENST00000398225.3_Missense_Mutation_p.R514Q|PDE9A_ENST00000335512.4_Missense_Mutation_p.R495Q|PDE9A_ENST00000398229.3_Missense_Mutation_p.R421Q|PDE9A_ENST00000539837.1_Missense_Mutation_p.R427Q|PDE9A_ENST00000398232.3_Missense_Mutation_p.R488Q|PDE9A_ENST00000380328.2_Missense_Mutation_p.R502Q|PDE9A_ENST00000398234.3_Missense_Mutation_p.R454Q|PDE9A_ENST00000335440.6_Missense_Mutation_p.R453Q|PDE9A_ENST00000328862.6_Missense_Mutation_p.R529Q|PDE9A_ENST00000349112.3_Missense_Mutation_p.R427Q|PDE9A_ENST00000398236.3_Missense_Mutation_p.R469Q	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	555					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						GAGCTGAAGCGGATAGATGAC	0.557000													3	70					0	0	1	0	0
KCNIP1	0	broad.mit.edu	37	5	170159832	170159832	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr5:170159832A>G	ENST00000328939.4	+	6	1001	c.464A>G	c.(463-465)tAt>tGt	p.Y155C	KCNIP1_ENST00000377360.4_Missense_Mutation_p.Y164C|KCNIP1_ENST00000411494.1_Missense_Mutation_p.Y166C|KCNIP1_ENST00000434108.1_Missense_Mutation_p.Y180C|KCNIP1_ENST00000390656.4_Missense_Mutation_p.Y155C|KCNIP1_ENST00000520740.1_Missense_Mutation_p.Y127C	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	166	EF-hand 3.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAAGCCATCTATGACATGATG	0.488000													12	90					0	0	1	0	0
UTP23	84294	broad.mit.edu	37	8	117783984	117783984	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr8:117783984A>G	ENST00000309822.2	+	3	754	c.653A>G	c.(652-654)cAa>cGa	p.Q218R	UTP23_ENST00000517820.1_Intron|UTP23_ENST00000357148.3_Intron|UTP23_ENST00000520733.1_Intron	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	218					rRNA processing	nucleolus				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						CCGGACACACAATCATCTGCT	0.368000													8	66					0	0	1	0	0
AZGP1	563	broad.mit.edu	37	7	99565785	99565785	+	Silent	SNP	G	G	A			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr7:99565785G>A	ENST00000411734.1	-	3	602	c.597C>T	c.(595-597)gaC>gaT	p.D199D	AZGP1_ENST00000292401.4_Silent_p.D202D			P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	202					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TACCTTGCCGGTCCAGGATAT	0.537000													12	80					0	0	1	0	0
CCDC53	51019	broad.mit.edu	37	12	102433745	102433745	+	Silent	SNP	T	T	C			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr12:102433745T>C	ENST00000240079.6	-	5	497	c.336A>G	c.(334-336)acA>acG	p.T112T	CCDC53_ENST00000545679.1_Silent_p.T111T|CCDC53_ENST00000539515.1_5'UTR	NM_016053.2	NP_057137.1	Q9Y3C0	CCD53_HUMAN	coiled-coil domain containing 53	112						WASH complex	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						CAGAGTCTTGTGTACTGTTCT	0.358000													12	67					0	0	1	0	0
MATN2	4147	broad.mit.edu	37	8	98943235	98943235	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr8:98943235G>A	ENST00000254898.5	+	3	428	c.197G>A	c.(196-198)cGc>cAc	p.R66H	MATN2_ENST00000522025.2_Intron|MATN2_ENST00000524308.1_Missense_Mutation_p.R66H|MATN2_ENST00000521689.1_Missense_Mutation_p.R66H|MATN2_ENST00000520016.1_Missense_Mutation_p.R66H	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	66	VWFA 1.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GACAGCTCTCGCAGTGTCAAC	0.507000													3	35					0	0	1	0	0
PIK3R1	5295	broad.mit.edu	37	5	67591287	67591287	+	Silent	SNP	C	C	T			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr5:67591287C>T	ENST00000521381.1	+	14	2401	c.1785C>T	c.(1783-1785)aaC>aaT	p.N595N	PIK3R1_ENST00000523872.1_Silent_p.N232N|PIK3R1_ENST00000336483.5_Silent_p.N325N|PIK3R1_ENST00000396611.1_Silent_p.N595N|PIK3R1_ENST00000274335.5_Silent_p.N595N|PIK3R1_ENST00000320694.8_Silent_p.N295N|PIK3R1_ENST00000521657.1_Silent_p.N595N	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	595					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.M582_D605>I(4)|p.Y580fs*1(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AGAAGTTGAACGAGTGGTTGG	0.368000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			5	71					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													4	86					0	0	1	0	0
KIAA1715	80856	broad.mit.edu	37	2	176804298	176804298	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr2:176804298C>A	ENST00000272748.4	-	10	1041	c.794G>T	c.(793-795)gGt>gTt	p.G265V	KIAA1715_ENST00000544803.1_Missense_Mutation_p.G296V|KIAA1715_ENST00000535310.1_Missense_Mutation_p.G190V	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	265						integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TGGACCATCACCAACCAAATA	0.378000													4	27					0.00909568	0.0093289	1	1	0
HERC2	8924	broad.mit.edu	37	15	28478677	28478677	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr15:28478677C>T	ENST00000261609.7	-	29	4490	c.4382G>A	c.(4381-4383)gGt>gAt	p.G1461D		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1461					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACCAAGTGCACCTGCATGAAC	0.423000													15	79					0	0	1	0	0
FBXW7	0	broad.mit.edu	37	4	153244092	153244092	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr4:153244092G>A	ENST00000281708.4	-	12	3294	c.2065C>T	c.(2065-2067)Cgg>Tgg	p.R689W	FBXW7_ENST00000296555.5_Missense_Mutation_p.R571W|FBXW7_ENST00000393956.3_Missense_Mutation_p.R513W|FBXW7_ENST00000603548.1_Missense_Mutation_p.R689W|FBXW7_ENST00000263981.5_Missense_Mutation_p.R609W|FBXW7_ENST00000603841.1_Missense_Mutation_p.R689W	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	689					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.R689W(10)|p.R450W(3)|p.R609W(3)|p.R571W(1)|p.?(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)				GTCCCATTCCGACTCCCAACT	0.478000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								22	121					0	0	1	0	0
LPPR5	0	broad.mit.edu	37	1	99380375	99380375	+	Silent	SNP	T	T	C			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr1:99380375T>C	ENST00000370188.3	-	5	1260	c.900A>G	c.(898-900)gtA>gtG	p.V300V	LPPR5_ENST00000263177.4_Silent_p.V300V	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		300						integral to membrane	hydrolase activity										AAGGACTTTCTACTCGAGGAA	0.353000													6	86					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53855012	53855012	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr19:53855012A>G	ENST00000458035.1	+	4	1201	c.1084A>G	c.(1084-1086)Aaa>Gaa	p.K362E	ZNF845_ENST00000595091.1_Missense_Mutation_p.K362E	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AGAATGTGACAAAGCTTTCAG	0.388000													3	57					0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50776664	50776664	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr20:50776664G>A	ENST00000216923.4	-	5	1110	c.761C>T	c.(760-762)aCg>aTg	p.T254M	ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000346617.4_Missense_Mutation_p.T200M|ZFP64_ENST00000371518.2_Missense_Mutation_p.T254M|ZFP64_ENST00000361387.2_Missense_Mutation_p.T254M|ZFP64_ENST00000371515.4_Missense_Mutation_p.T252M	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GGACTCACCCGTGTGGGATCG	0.532000													30	146					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129785592	129785592	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr6:129785592G>T	ENST00000421865.2	+	50	7199	c.7150G>T	c.(7150-7152)Gac>Tac	p.D2384Y		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2384	Laminin G-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGCCACACGAGACCTGGTAAA	0.408000													11	122					0.00244969	0.00257863	1	1	0
BCAS4	55653	broad.mit.edu	37	20	49446838	49446838	+	Missense_Mutation	SNP	T	T	A			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr20:49446838T>A	ENST00000358791.5	+	3	375	c.275T>A	c.(274-276)aTc>aAc	p.I92N	BCAS4_ENST00000262591.5_Missense_Mutation_p.I92N|BCAS4_ENST00000371608.2_Missense_Mutation_p.I92N|BCAS4_ENST00000485049.1_3'UTR	NM_017843.3	NP_060313.3	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4	92						cytoplasm				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						ACTTCACAGATCCTGGAGGAA	0.532000													10	71					0	0	1	0	0
PAX6	5080	broad.mit.edu	37	11	31815030	31815030	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr11:31815030G>A	ENST00000419022.1	-	12	1498	c.1030C>T	c.(1030-1032)Ccg>Tcg	p.P344S	PAX6_ENST00000379123.5_Missense_Mutation_p.P330S|PAX6_ENST00000379115.4_Missense_Mutation_p.P344S|PAX6_ENST00000379129.2_Missense_Mutation_p.P344S|PAX6_ENST00000241001.8_Missense_Mutation_p.P330S|PAX6_ENST00000379132.3_Missense_Mutation_p.P330S|PAX6_ENST00000379107.2_Missense_Mutation_p.P344S|PAX6_ENST00000379111.2_Missense_Mutation_p.P330S	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	330	Pro/Ser/Thr-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					GGCATAGGCGGCAGAGCGCTG	0.557000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				4	171					0	0	1	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6094277	6094277	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr7:6094277G>T	ENST00000199389.6	-	2	323	c.177C>A	c.(175-177)ttC>ttA	p.F59L	EIF2AK1_ENST00000536084.1_5'UTR	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	59					negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		CTGCAAAAGGGAAGGTTGGCT	0.398000													22	119					5.35356e-11	5.9484e-11	1	1	0
F8	2157	broad.mit.edu	37	X	154130442	154130442	+	Splice_Site	SNP	C	C	T			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chrX:154130442C>T	ENST00000360256.4	-	19	6199	c.5998_splice	c.e19-1	p.G2000_splice		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2000	F5/8 type A 3.|Plastocyanin-like 6.		G -> A (in HEMA; moderate-severe).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTCAAAAACACCTTATAAAAA	0.378000													17	25					0	0	1	0	0
TXNDC2	0	broad.mit.edu	37	18	9887074	9887074	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr18:9887074G>A	ENST00000306084.6	+	2	797	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	TXNDC2_ENST00000357775.4_Missense_Mutation_p.E133K|TXNDC2_ENST00000536353.2_Intron	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	200	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAGAAGCCATCCA	0.577000													5	294					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179477176	179477176	+	Silent	SNP	G	G	A			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr2:179477176G>A	ENST00000589042.1	-	266	50300	c.50076C>T	c.(50074-50076)gaC>gaT	p.D16692D	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.D7627D|TTN_ENST00000342992.6_Silent_p.D14124D|TTN_ENST00000342175.6_Silent_p.D7819D|TTN_ENST00000359218.5_Silent_p.D7752D|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.D15051D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15051	Fibronectin type-III 21.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCGCCTGACGTCTCTCTTTT	0.458000													3	28					0	0	1	0	0
CYP4Z2P	0	broad.mit.edu	37	1	47310359	47310360	+	RNA	INS	-	-	T			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr1:47310359_47310360insT	ENST00000505841.1	-	0	1269					NR_002788.2																						CAAAAACAAAACCCTAGATATT	0.421													5	9	---	---	---	---					
PMS2P4	0	broad.mit.edu	37	7	66762433	66762433	+	RNA	DEL	A	A	-	rs68053451		TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr7:66762433delA	ENST00000414507.1	-	0	184																											tctcaaaaagaaaaaaaaaaa	0.408													5	8	---	---	---	---					
PTEN	5728	broad.mit.edu	37	10	89720803	89720804	+	Frame_Shift_Ins	INS	-	-	A	rs146650273		TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr10:89720803_89720804insA	ENST00000371953.3	+	8	2311_2312	c.954_955insA	c.(952-957)ctctttfs	p.F319fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	319	C2 tensin-type.		Missing (in glioma; reduced tumor suppressor activity; fails to inactivate AKT/PKB).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.L318fs*2(27)|p.T319fs*1(24)|p.T319fs*6(6)|p.R55fs*1(5)|p.V317fs*3(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319del(2)|p.V317fs*6(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.L318fs*3(1)|p.L316fs*1(1)|p.T319fs*4(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.T318fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATCTAGTACTTACTTTAACAAA	0.327		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			23	69	---	---	---	---					
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396277	+	RNA	DEL	G	G	-	rs148140777	by1000genomes	TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr10:118396277delG	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTT	0.423													4	2	---	---	---	---					
DUSP8	1850	broad.mit.edu	37	11	1577819	1577820	+	Frame_Shift_Del	DEL	CG	CG	-	rs61747093		TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr11:1577819_1577820delCG	ENST00000397374.3	-	7	1933_1934	c.1806_1807delCG	c.(1804-1809)cggcfs	p.RG602fs	DUSP8_ENST00000331588.4_Frame_Shift_Del_p.RG602fs	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	602					inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|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;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		AGCTCCTCGCCGCGCGCGCGCC	0.752													3	5	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29652974	29652974	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr17:29652974delT	ENST00000358273.4	+	37	5355	c.4972delT	c.(4972-4974)ttfs	p.F1658fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.F1637fs|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1658	CRAL-TRIO.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TAAAACAGACTTTCTCTCTAA	0.418			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			22	92	---	---	---	---					
