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
RYR3	6263	broad.mit.edu	37	15	34077962	34077962	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr15:34077962G>A	ENST00000389232.4	+	66	9438	c.9368G>A	c.(9367-9369)cGg>cAg	p.R3123Q	RYR3_ENST00000415757.3_Missense_Mutation_p.R3123Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3123					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCAGGGGCCCGGTACACAGAG	0.587000													29	87					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30699682	30699682	+	Silent	SNP	A	A	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr8:30699682A>G	ENST00000256246.2	-	1	6926	c.6852T>C	c.(6850-6852)aaT>aaC	p.N2284N		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2284										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATTTATTGTTATTTTCCCCAG	0.333000													7	17					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17256215	17256215	+	Silent	SNP	A	A	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:17256215A>T	ENST00000595618.1	+	3	1001	c.849A>T	c.(847-849)ggA>ggT	p.G283G	MYO9B_ENST00000397274.2_Silent_p.G283G|MYO9B_ENST00000594824.1_Silent_p.G283G	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	283	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGGCTTTTGGAAATGCCAAGA	0.438000													15	56					0	0	1	0	0
RFX5	5993	broad.mit.edu	37	1	151315599	151315599	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:151315599C>T	ENST00000290524.4	-	11	1092	c.914G>A	c.(913-915)cGg>cAg	p.R305Q	RFX5_ENST00000452671.2_Missense_Mutation_p.R305Q|RFX5_ENST00000452513.2_Missense_Mutation_p.R265Q|RFX5_ENST00000368870.2_Missense_Mutation_p.R305Q	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	305						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACTCTTCTTCCGCTCTCCACG	0.572000													19	44					0	0	1	0	0
ZMAT2	153527	broad.mit.edu	37	5	140081702	140081702	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr5:140081702C>G	ENST00000274712.3	+	3	351	c.224C>G	c.(223-225)tCt>tGt	p.S75C		NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2	75						nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCCTCAATCTGAGATGGGA	0.453000													29	61					0	0	1	0	0
KLHDC4	54758	broad.mit.edu	37	16	87782281	87782281	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr16:87782281G>A	ENST00000270583.5	-	5	562	c.504C>T	c.(502-504)gtC>gtT	p.V168V	KLHDC4_ENST00000353170.5_Silent_p.V111V|KLHDC4_ENST00000347925.5_Silent_p.V168V	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	168										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		CTTCTTACTTGACTTGTTCCC	0.557000													36	115					0	0	1	0	0
HNRNPR	10236	broad.mit.edu	37	1	23644993	23644993	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:23644993G>C	ENST00000478691.1	-	7	977	c.706C>G	c.(706-708)Cca>Gca	p.P236A	HNRNPR_ENST00000302271.6_Missense_Mutation_p.P334A|HNRNPR_ENST00000427764.2_Missense_Mutation_p.P296A|HNRNPR_ENST00000426846.2_Missense_Mutation_p.P174A|HNRNPR_ENST00000606561.1_Missense_Mutation_p.P195A|HNRNPR_ENST00000374612.1_Missense_Mutation_p.P334A|HNRNPR_ENST00000374616.3_Missense_Mutation_p.P337A	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	334	RRM 1.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		ATGACTTCTGGATCTGGTTCT	0.418000													17	49					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193023355	193023355	+	Missense_Mutation	SNP	G	G	A	rs150829984		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr3:193023355G>A	ENST00000342358.4	-	23	2788	c.2671C>T	c.(2671-2673)Ctc>Ttc	p.L891F	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	891					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TACCTGATGAGATGAGGCACA	0.443000													23	62					0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77715711	77715711	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr14:77715711G>C	ENST00000298351.4	+	21	2092	c.1948G>C	c.(1948-1950)Gag>Cag	p.E650Q		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	650						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CAAACTGAACGAGCAGATCCA	0.532000													21	74					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202137501	202137501	+	Splice_Site	SNP	T	T	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:202137501T>C	ENST00000358485.4	+	4	923		c.e4+2		CASP8_ENST00000392258.3_Splice_Site|CASP8_ENST00000392266.3_Splice_Site|CASP8_ENST00000392259.2_Splice_Site|CASP8_ENST00000264274.9_Splice_Site|CASP8_ENST00000264275.5_Splice_Site|CASP8_ENST00000323492.7_Splice_Site|CASP8_ENST00000432109.2_Splice_Site	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase						activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TCAGCAAAGGTAGAAACAACC	0.413000										HNSCC(4;0.00038)			29	50					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7707590	7707590	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:7707590C>T	ENST00000572933.1	+	59	10449	c.8989C>T	c.(8989-8991)Cgg>Tgg	p.R2997W	DNAH2_ENST00000389173.2_Missense_Mutation_p.R2997W			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2997	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGGAGAAAAACGGCAGGAGCT	0.567000													10	23					0	0	1	0	0
RP11-535M15.2	0	broad.mit.edu	37	9	99489019	99489019	+	RNA	SNP	G	G	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr9:99489019G>T	ENST00000602289.1	+	0	8																											TGTCTCAAGTGCATTCGCAAG	0.473000													24	19					7.87624e-14	8.34823e-14	1	1	0
ANKRD50	57182	broad.mit.edu	37	4	125599995	125599995	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr4:125599995G>A	ENST00000504087.1	-	3	1615	c.578C>T	c.(577-579)tCt>tTt	p.S193F	ANKRD50_ENST00000515641.1_Missense_Mutation_p.S14F	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	193										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTCATCAACAGAATCAACAAG	0.438000													27	101					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423256	56423256	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:56423256G>T	ENST00000588751.1	-	5	1951	c.1927C>A	c.(1927-1929)Cac>Aac	p.H643N	NLRP13_ENST00000342929.3_Missense_Mutation_p.H643N			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	643							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGGGACTCGTGTAGGCAGTGA	0.428000													19	63					1.01871e-10	1.07573e-10	1	1	0
SLC45A1	50651	broad.mit.edu	37	1	8385896	8385896	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:8385896C>T	ENST00000471889.1	+	4	894	c.509C>T	c.(508-510)tCg>tTg	p.S170L	SLC45A1_ENST00000289877.8_Missense_Mutation_p.S170L|SLC45A1_ENST00000377479.2_Missense_Mutation_p.S204L			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	170					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)		CTGGGCCTCTCGCTCTTGCTG	0.592000													21	30					0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116944207	116944207	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:116944207G>C	ENST00000537345.1	+	21	3244	c.2881G>C	c.(2881-2883)Gag>Cag	p.E961Q	ATP1A1_ENST00000369496.4_Missense_Mutation_p.E930Q|ATP1A1_ENST00000295598.5_Missense_Mutation_p.E961Q	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	961					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	CCTCTTTGAAGAGACAGCCCT	0.413000													61	157					0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40318343	40318343	+	Silent	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:40318343G>C	ENST00000264661.3	-	10	2144	c.1812C>G	c.(1810-1812)ctC>ctG	p.L604L	KCNH4_ENST00000607371.1_Silent_p.L604L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	604					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGTTGTCTCGGAGCACCTCAA	0.607000													5	7					0	0	1	0	0
GATM	2628	broad.mit.edu	37	15	45654339	45654339	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr15:45654339G>A	ENST00000396659.3	-	9	1579	c.1240C>T	c.(1240-1242)Cgc>Tgc	p.R414C		NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	414					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	GTGCCTCGGCGCCGGACATCG	0.507000													12	40					0	0	1	0	0
POLR2L	5441	broad.mit.edu	37	11	840380	840380	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:840380C>G	ENST00000322028.4	-	2	232	c.196G>C	c.(196-198)Gag>Cag	p.E66Q		NM_021128.4	NP_066951.1	P62875	RPAB5_HUMAN	polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa	66					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding			lung(1)	1		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;4.1e-25)|Epithelial(43;3.15e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTCACTTCTCCAGGGGTGCA	0.652000													76	64					0	0	1	0	0
C10orf137	26098	broad.mit.edu	37	10	127422700	127422700	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr10:127422700G>C	ENST00000337623.3	+	11	1448	c.1343G>C	c.(1342-1344)aGa>aCa	p.R448T	C10orf137_ENST00000356792.4_Missense_Mutation_p.R482T	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	482					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GGAACTATTAGAACATTGCTT	0.308000													5	34					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910741	29910741	+	Missense_Mutation	SNP	A	A	C	rs45570938		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:29910741A>C	ENST00000396634.1	+	4	622	c.281A>C	c.(280-282)cAg>cCg	p.Q94P	HLA-A_ENST00000376806.5_Missense_Mutation_p.Q94P|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q94P|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q94P			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	94	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GTGAAGGCCCAGTCACAGACT	0.687000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			3	2					0	0	1	0	0
SEMA6B	10501	broad.mit.edu	37	19	4548120	4548120	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:4548120G>A	ENST00000586582.1	-	14	1830	c.1520C>T	c.(1519-1521)tCg>tTg	p.S507L	SEMA6B_ENST00000301293.3_Missense_Mutation_p.S507L|SEMA6B_ENST00000586965.1_Missense_Mutation_p.S507L	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	507	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGCCCCCCGAAGCTGCGTC	0.687000													6	5					0	0	1	0	0
ZNF773	374928	broad.mit.edu	37	19	58018253	58018253	+	Missense_Mutation	SNP	C	C	G	rs139485854	byFrequency	TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:58018253C>G	ENST00000282292.4	+	4	930	c.790C>G	c.(790-792)Caa>Gaa	p.Q264E	ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.Q263E	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		TGACCTCATTCAACACCAGAG	0.418000													18	66					0	0	1	0	0
CLEC4D	338339	broad.mit.edu	37	12	8672930	8672930	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:8672930C>T	ENST00000299665.2	+	5	686	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	165	C-type lectin.				innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					ATTTAACCCACGCAGAGTGTA	0.418000													11	38					0	0	1	0	0
RNF32	140545	broad.mit.edu	37	7	156451242	156451242	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:156451242G>A	ENST00000392741.2	+	6	750	c.662G>A	c.(661-663)aGa>aAa	p.R221K	RNF32_ENST00000343665.4_Missense_Mutation_p.R197K|RNF32_ENST00000317955.5_Missense_Mutation_p.R221K|RNF32_ENST00000311822.8_Missense_Mutation_p.R221K|RNF32_ENST00000432459.2_Missense_Mutation_p.R221K|RNF32_ENST00000405335.1_Missense_Mutation_p.R221K|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000392743.2_Missense_Mutation_p.R221K			Q9H0A6	RNF32_HUMAN	ring finger protein 32	221						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GCCAAGTTAAGAAAAAAATTC	0.423000													10	24					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54275519	54275519	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:54275519G>C	ENST00000354646.2	-	17	3700	c.3262C>G	c.(3262-3264)Caa>Gaa	p.Q1088E	WNK3_ENST00000375159.2_Missense_Mutation_p.Q1088E|WNK3_ENST00000375169.3_Missense_Mutation_p.Q1088E	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1088					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	p.Q1088K(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GTAGTGGGTTGAAGGGTAGTT	0.428000													22	45					0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6606660	6606660	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr9:6606660C>T	ENST00000321612.6	-	5	795	c.645G>A	c.(643-645)aaG>aaA	p.K215K		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	215					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	ATTTCCTCCTCTTGTTGTGTC	0.393000													17	70					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89837010	89837010	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr16:89837010C>T	ENST00000389301.3	-	24	2214	c.2184G>A	c.(2182-2184)caG>caA	p.Q728Q	FANCA_ENST00000568369.1_Silent_p.Q728Q|FANCA_ENST00000567284.2_5'UTR	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	728					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CCATCAGGTTCTGACAGAAAG	0.652000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				8	17					0	0	1	0	0
C1QTNF8	390664	broad.mit.edu	37	16	1144797	1144797	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr16:1144797C>T	ENST00000328449.5	-	3	399	c.126G>A	c.(124-126)gtG>gtA	p.V42V		NM_207419.3	NP_997302.2	P60827	C1QT8_HUMAN	C1q and tumor necrosis factor related protein 8	42						collagen				lung(2)|prostate(1)|skin(1)	4		Hepatocellular(780;0.00369)				CCCTGTCACTCACCCGGGCAT	0.692000													8	21					0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28857752	28857752	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:28857752A>G	ENST00000357727.2	+	10	1709	c.1319A>G	c.(1318-1320)gAc>gGc	p.D440G	CREB5_ENST00000396299.2_Missense_Mutation_p.D407G|CREB5_ENST00000396300.2_Missense_Mutation_p.D433G|CREB5_ENST00000409603.1_Missense_Mutation_p.D407G|CREB5_ENST00000396298.2_Missense_Mutation_p.D301G	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	440					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						ACACATAAAGACTGCCCAATA	0.358000													16	48					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128478705	128478705	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:128478705G>A	ENST00000325888.8	+	8	1520	c.1259G>A	c.(1258-1260)cGg>cAg	p.R420Q	FLNC_ENST00000346177.6_Missense_Mutation_p.R420Q	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	420					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCACAGGGCCGGCGGGACACA	0.647000													50	114					0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12939041	12939041	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:12939041G>T	ENST00000218032.6	+	2	1969	c.1882G>T	c.(1882-1884)Gac>Tac	p.D628Y	TLR8_ENST00000311912.5_Missense_Mutation_p.D646Y	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	628					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GAATGATGATGACAACAGGTA	0.378000													18	47					8.28177e-16	8.84431e-16	1	1	0
DISP2	85455	broad.mit.edu	37	15	40657052	40657052	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr15:40657052G>C	ENST00000267889.3	+	5	704	c.617G>C	c.(616-618)cGg>cCg	p.R206P		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	206					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TTTGAGCCACGGGACACAGAC	0.572000													11	41					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11780570	11780570	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:11780570G>A	ENST00000381486.2	+	33	6140	c.5840G>A	c.(5839-5841)cGa>cAa	p.R1947Q	GREB1_ENST00000396123.1_Missense_Mutation_p.R945Q|GREB1_ENST00000234142.5_Missense_Mutation_p.R1947Q	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1947						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTGACGGGACGACACATCTGA	0.597000													22	70					0	0	1	0	0
SRP68	6730	broad.mit.edu	37	17	74035918	74035918	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:74035918G>A	ENST00000307877.2	-	16	1914	c.1753C>T	c.(1753-1755)Ccc>Tcc	p.P585S	SRP68_ENST00000355113.5_Missense_Mutation_p.P484S|SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000539137.1_Missense_Mutation_p.P547S|SRP68_ENST00000602720.1_Missense_Mutation_p.P246S	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	585					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						GGCTTGCAGGGAATGGGCTGG	0.547000													20	33					0	0	1	0	0
ZHX3	23051	broad.mit.edu	37	20	39830935	39830935	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr20:39830935C>T	ENST00000309060.3	-	4	3037	c.2622G>A	c.(2620-2622)atG>atA	p.M874I	ZHX3_ENST00000432768.2_Missense_Mutation_p.M874I|ZHX3_ENST00000540170.1_Missense_Mutation_p.M874I|ZHX3_ENST00000560361.1_Missense_Mutation_p.M874I|ZHX3_ENST00000559234.1_Missense_Mutation_p.M874I|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.M874I			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	874					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				GCTGGGAGCTCATCTGGGTCT	0.567000													59	158					0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134016001	134016001	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr9:134016001C>T	ENST00000359428.5	+	11	1342	c.1198C>T	c.(1198-1200)Cca>Tca	p.P400S	RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.P400S|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.P400S			P35658	NU214_HUMAN	nucleoporin 214kDa	400					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TGTGCTTTGTCCATTTTATAT	0.383000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								32	37					0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115088674	115088674	+	Silent	SNP	T	T	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:115088674T>C	ENST00000542447.2	-	6	887	c.759A>G	c.(757-759)ctA>ctG	p.L253L	CADM1_ENST00000536727.1_Silent_p.L253L|CADM1_ENST00000537058.1_Silent_p.L253L|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000452722.2_Silent_p.L253L|CADM1_ENST00000331581.6_Silent_p.L253L	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	253	Ig-like C2-type 2.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TTAAGCCTTGTAGAGGATAAG	0.458000													14	37					0	0	1	0	0
HIST1H1E	3008	broad.mit.edu	37	6	26156626	26156626	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:26156626A>T	ENST00000304218.3	+	1	68	c.8A>T	c.(7-9)gAg>gTg	p.E3V		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	3					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AACATGTCCGAGACTGCGCCT	0.662000													52	40					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214819007	214819007	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:214819007C>T	ENST00000366955.3	+	13	6262	c.6094C>T	c.(6094-6096)Cat>Tat	p.H2032Y		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2128					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGACAAAACTCATCTCCAGGA	0.438000													6	87					0	0	1	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31859741	31859741	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr22:31859741G>A	ENST00000397525.1	-	5	734	c.511C>T	c.(511-513)Cgt>Tgt	p.R171C	RP11-247I13.8_ENST00000439588.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R171C|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000344710.5_Intron|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R171C|RP11-247I13.11_ENST00000483736.1_RNA	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	171	Arg-rich.					nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCGCTAAGACGGTGATCCTTC	0.468000													26	55					0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43508638	43508638	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr15:43508638C>G	ENST00000300215.3	-	2	571	c.114G>C	c.(112-114)aaG>aaC	p.K38N	EPB42_ENST00000441366.2_Missense_Mutation_p.K8N|EPB42_ENST00000540029.1_Missense_Mutation_p.K8N			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	8	Band 3 binding (By similarity).				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		AGTCACAGCTCTTGATACCCA	0.527000													12	37					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137622311	137622311	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr9:137622311A>G	ENST00000371817.3	+	7	1568	c.1154A>G	c.(1153-1155)aAc>aGc	p.N385S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	385	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GACACCTCCAACTCCTCCAAT	0.602000													38	29					0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89728465	89728465	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:89728465C>T	ENST00000343435.5	-	10	1902	c.1366G>A	c.(1366-1368)Gaa>Aaa	p.E456K	GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.E456K	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	456						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		AGAACTTCTTCAGCCTAGCAA	0.418000													14	27					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	G	A	rs28392876	by1000genomes	TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:16946438G>A	ENST00000412962.1	-	0	1081																											GCCTTCCGCCGGGCCAGCAGC	0.672000													4	29					0	0	1	0	0
HGSNAT	138050	broad.mit.edu	37	8	43054709	43054709	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr8:43054709C>T	ENST00000458501.2	+	18	1989	c.1989C>T	c.(1987-1989)atC>atT	p.I663I	HGSNAT_ENST00000297798.7_Silent_p.I367I|HGSNAT_ENST00000379644.4_Silent_p.I635I|HGSNAT_ENST00000521576.1_Silent_p.I352I			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	663					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TTTGGAAAATCTGATGGCTCC	0.488000													3	9					0	0	1	0	0
IL5RA	3568	broad.mit.edu	37	3	3137058	3137058	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr3:3137058T>A	ENST00000446632.2	-	8	1354	c.780A>T	c.(778-780)aaA>aaT	p.K260N	IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000456302.1_Missense_Mutation_p.K260N|IL5RA_ENST00000430514.2_Missense_Mutation_p.K260N|IL5RA_ENST00000256452.3_Missense_Mutation_p.K260N|IL5RA_ENST00000383846.1_Missense_Mutation_p.K260N|IL5RA_ENST00000311981.8_Missense_Mutation_p.K260N|IL5RA_ENST00000418488.2_Intron|IL5RA_ENST00000438560.1_Missense_Mutation_p.K260N	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	260					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CAGACACTGGTTTCTCCCATT	0.358000													8	25					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47369730	47369730	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr18:47369730G>A	ENST00000285039.7	-	34	4791	c.4492C>T	c.(4492-4494)Ccc>Tcc	p.P1498S	SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Missense_Mutation_p.P613S|MYO5B_ENST00000592688.1_Missense_Mutation_p.P68S	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1498					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GGGAGACAGGGCACTGTGCCC	0.567000													19	58					0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74600063	74600063	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:74600063G>C	ENST00000361874.3	-	7	762	c.445C>G	c.(445-447)Cga>Gga	p.R149G	DCTN1_ENST00000394003.3_Missense_Mutation_p.R142G|DCTN1_ENST00000409240.1_Intron|DCTN1_ENST00000407639.2_Missense_Mutation_p.R15G|DCTN1_ENST00000409438.1_Missense_Mutation_p.R15G|DCTN1_ENST00000409567.3_Intron|DCTN1_ENST00000409868.1_Missense_Mutation_p.R132G	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	149					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						ACCTTGGGTCGCCGAGTTGTG	0.517000													12	39					0	0	1	0	0
KAL1	3730	broad.mit.edu	37	X	8536379	8536379	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:8536379G>A	ENST00000262648.3	-	8	1250	c.1101C>T	c.(1099-1101)gaC>gaT	p.D367D		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	367	Fibronectin type-III 2.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						CATAGTCACAGTCTGGCTGGA	0.438000													8	30					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79938022	79938022	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:79938022G>A	ENST00000373275.4	-	38	4555	c.4339C>T	c.(4339-4341)Cgg>Tgg	p.R1447W	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1447										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTTCTGTACCGTGGCCTTCTC	0.383000													45	120					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													3	13					0.115264	0.116084	1	1	0
FGD1	2245	broad.mit.edu	37	X	54472622	54472622	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:54472622C>T	ENST00000375135.3	-	18	3539	c.2806G>A	c.(2806-2808)Gag>Aag	p.E936K		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	936					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCCTCCATCTCCCTGTCCTCA	0.647000													8	21					0	0	1	0	0
TARBP2	6895	broad.mit.edu	37	12	53895898	53895898	+	Silent	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:53895898C>G	ENST00000266987.2	+	2	636	c.153C>G	c.(151-153)ctC>ctG	p.L51L	TARBP2_ENST00000552857.1_Intron|TARBP2_ENST00000549028.1_3'UTR|TARBP2_ENST00000456234.2_Silent_p.L30L|TARBP2_ENST00000394357.2_Silent_p.L30L	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	51	DRBM 1.|Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						ACGACCTTCTCAAAGCCGAGG	0.602000													13	38					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53421549	53421549	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr13:53421549G>A	ENST00000377942.3	-	1	1226	c.1023C>T	c.(1021-1023)atC>atT	p.I341I	PCDH8_ENST00000338862.4_Silent_p.I341I	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	341	Cadherin 3.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GGATGCGCACGATGACCTTGC	0.726000													5	14					0	0	1	0	0
SLC35A5	55032	broad.mit.edu	37	3	112301560	112301560	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr3:112301560G>A	ENST00000492406.1	+	7	1535	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	418						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						CAAGAGTGATGAGTCAGATGA	0.333000													15	27					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	286491	286491	+	Missense_Mutation	SNP	G	G	A	rs3209441	by1000genomes	TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr9:286491G>A	ENST00000453981.1	+	3	299	c.187G>A	c.(187-189)Gac>Aac	p.D63N	DOCK8_ENST00000469391.1_5'UTR|DOCK8_ENST00000432829.2_5'UTR			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	63					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGAGCCAGTGGACTTTGAAGG	0.517000													4	42					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103130247	103130247	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:103130247G>A	ENST00000428762.1	-	60	9864	c.9705C>T	c.(9703-9705)tgC>tgT	p.C3235C	RELN_ENST00000424685.2_Silent_p.C3235C|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Silent_p.C3235C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3235	EGF-like 8.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CGTGCCCGCTGCAGAGCTTGG	0.552000													16	28					0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	534288	534288	+	Missense_Mutation	SNP	C	C	T	rs104894230		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:534288C>T	ENST00000417302.1	-	2	222	c.35G>A	c.(34-36)gGc>gAc	p.G12D	HRAS_ENST00000451590.1_Missense_Mutation_p.G12D|HRAS_ENST00000397596.2_Missense_Mutation_p.G12D|HRAS_ENST00000397594.1_Missense_Mutation_p.G12D|HRAS_ENST00000311189.7_Missense_Mutation_p.G12D|HRAS_ENST00000468682.2_5'UTR	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12V(252)|p.G12D(48)|p.G12A(9)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GCCCACACCGCCGGCGCCCAC	0.647000	G12D(HS578T_BREAST)|G12V(T24_URINARY_TRACT)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			17	22					0	0	1	0	0
AEBP1	165	broad.mit.edu	37	7	44151108	44151108	+	Silent	SNP	C	C	T	rs150374163	byFrequency	TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:44151108C>T	ENST00000223357.3	+	15	2024	c.1719C>T	c.(1717-1719)ctC>ctT	p.L573L	AEBP1_ENST00000450684.2_Silent_p.L148L	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	573	Interaction with MAPK1 and MAPK3 (By similarity).|Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TGCCCCAGCTCATGAAGGTGG	0.602000													8	12					0	0	1	0	0
ARSD	414	broad.mit.edu	37	X	2825335	2825335	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:2825335C>T	ENST00000381154.1	-	10	1834	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K		NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	587						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCCCCATCCTCGTGGCATGAA	0.557000													16	47					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119735	38119735	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr22:38119735C>T	ENST00000406386.3	+	7	1427	c.1172C>T	c.(1171-1173)tCc>tTc	p.S391F	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	391					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCCAGAGCCTCCTCTCCCAAC	0.557000													26	83					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187560919	187560919	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr4:187560919G>C	ENST00000441802.2	-	4	3808	c.3599C>G	c.(3598-3600)tCa>tGa	p.S1200*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1200	Cadherin 10.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TAGCTTCCTTGACGTAGTTGT	0.328000										HNSCC(5;0.00058)			16	50					0	0	1	0	0
PTPN4	5775	broad.mit.edu	37	2	120620221	120620221	+	Splice_Site	SNP	T	T	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:120620221T>G	ENST00000263708.2	+	3	1017		c.e3+2			NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)							cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	GATAACCCAGTAAGTGTAAGA	0.373000													15	36					0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151669886	151669886	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:151669886C>T	ENST00000402676.2	+	4	600	c.360C>T	c.(358-360)tcC>tcT	p.S120S	AKAP12_ENST00000490177.1_3'UTR|AKAP12_ENST00000354675.6_Silent_p.S22S|AKAP12_ENST00000359755.5_Silent_p.S15S|AKAP12_ENST00000253332.1_Silent_p.S120S	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	120					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	p.S120S(1)|p.S120F(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AAAGAGACTCCGATAAAGAGA	0.453000													10	21					0	0	1	0	0
FAM8A1	51439	broad.mit.edu	37	6	17602854	17602854	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:17602854G>A	ENST00000259963.3	+	2	801	c.746G>A	c.(745-747)aGa>aAa	p.R249K		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	249	RDD.					integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			TTGGCCCACAGATTTATGGCA	0.353000													17	18					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31593823	31593823	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:31593823G>A	ENST00000376033.2	+	9	1100	c.866G>A	c.(865-867)cGa>cAa	p.R289Q	PRRC2A_ENST00000376007.4_Missense_Mutation_p.R289Q|PRRC2A_ENST00000469577.1_3'UTR	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	289	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GCGGGCCCCCGAGGCTCAGGG	0.493000													11	25					0	0	1	0	0
OR2S2	56656	broad.mit.edu	37	9	35958092	35958092	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr9:35958092C>G	ENST00000341959.2	-	1	59	c.4G>C	c.(4-6)Gaa>Caa	p.E2Q		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			TTGGCTTTTTCCATGTGATAT	0.507000													4	42					0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57938671	57938671	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr16:57938671C>T	ENST00000564448.1	-	26	2643	c.2583G>A	c.(2581-2583)acG>acA	p.T861T	CNGB1_ENST00000251102.8_Silent_p.T867T			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	867					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CAAAGACGCCCGTGAAATAAT	0.557000													39	80					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183507529	183507529	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:183507529G>C	ENST00000367537.3	+	13	1531	c.1336G>C	c.(1336-1338)Gag>Cag	p.E446Q	SMG7_ENST00000456731.2_Missense_Mutation_p.E375Q|SMG7_ENST00000508461.1_Missense_Mutation_p.E375Q|SMG7_ENST00000515829.2_Missense_Mutation_p.E417Q|SMG7_ENST00000347615.2_Missense_Mutation_p.E417Q|SMG7_ENST00000507469.1_Missense_Mutation_p.E417Q			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	417					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						ACCACTTCCAGAGGAGTTTGA	0.318000													27	70					0	0	1	0	0
SLAIN1	122060	broad.mit.edu	37	13	78320940	78320940	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr13:78320940A>T	ENST00000466548.1	+	5	1168	c.1142A>T	c.(1141-1143)tAt>tTt	p.Y381F	SLAIN1_ENST00000465831.1_3'UTR|SLAIN1_ENST00000358679.3_Missense_Mutation_p.Y118F|SLAIN1_ENST00000314070.5_Intron|SLAIN1_ENST00000418532.1_Missense_Mutation_p.Y162F|SLAIN1_ENST00000267219.8_Missense_Mutation_p.Y162F|SLAIN1_ENST00000488699.1_Missense_Mutation_p.Y239F|SLAIN1_ENST00000351546.3_Missense_Mutation_p.Y118F	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	381										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		CAACAGTATTATTCACCTCAA	0.408000													14	42					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184100717	184100717	+	Silent	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr3:184100717C>G	ENST00000204604.1	+	9	1302	c.1056C>G	c.(1054-1056)gtC>gtG	p.V352V	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Silent_p.V352V|CHRD_ENST00000450923.1_Silent_p.V352V|CHRD_ENST00000545352.1_5'UTR	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	352	CHRD 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGCCAATGTCTCAGCCCAGG	0.592000													5	19					0	0	1	0	0
ZNF582	147948	broad.mit.edu	37	19	56896328	56896328	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:56896328T>C	ENST00000301310.4	-	5	616	c.458A>G	c.(457-459)gAc>gGc	p.D153G	ZNF582_ENST00000586929.1_Missense_Mutation_p.D153G	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TGCATGCTGGTCAAAAGTGGG	0.378000													20	48					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108198394	108198394	+	Missense_Mutation	SNP	C	C	T	rs150503164		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:108198394C>T	ENST00000278616.4	+	48	7383	c.6998C>T	c.(6997-6999)aCa>aTa	p.T2333I	ATM_ENST00000452508.2_Missense_Mutation_p.T2333I|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2333	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CTAAAACTTACATACACAGAA	0.398000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			11	23					0	0	1	0	0
SRP68	6730	broad.mit.edu	37	17	74035886	74035886	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:74035886G>A	ENST00000307877.2	-	16	1946	c.1785C>T	c.(1783-1785)ctC>ctT	p.L595L	SRP68_ENST00000355113.5_Silent_p.L494L|SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000539137.1_Silent_p.L557L|SRP68_ENST00000602720.1_Silent_p.L256L	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	595					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						CCACATGGTTGAGGGCCAGGT	0.542000													12	32					0	0	1	0	0
CACNG4	27092	broad.mit.edu	37	17	65026898	65026898	+	Silent	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:65026898C>G	ENST00000262138.3	+	4	764	c.762C>G	c.(760-762)ccC>ccG	p.P254P		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	254					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			AGGCCTCGCCCTCCAGGGACG	0.637000													22	54					0	0	1	0	0
RFXAP	5994	broad.mit.edu	37	13	37401782	37401782	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr13:37401782G>A	ENST00000255476.2	+	3	845	c.711G>A	c.(709-711)tcG>tcA	p.S237S	RFXAP_ENST00000472888.1_3'UTR	NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN	regulatory factor X-associated protein	237	C-terminal domain.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)		TTTCTAAGTCGTTACTAAGAA	0.323000													5	25					0	0	1	0	0
CCSER1	401145	broad.mit.edu	37	4	91230515	91230515	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr4:91230515G>A	ENST00000509176.1	+	2	1368	c.1080G>A	c.(1078-1080)gtG>gtA	p.V360V	CCSER1_ENST00000333691.8_Silent_p.V360V|CCSER1_ENST00000432775.2_Silent_p.V360V	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		CTACAAGTGTGAGCCACTCAG	0.418000													17	43					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38370546	38370546	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr5:38370546G>T	ENST00000322350.5	+	6	1040	c.694G>T	c.(694-696)Gac>Tac	p.D232Y	EGFLAM_ENST00000354891.3_Missense_Mutation_p.D232Y	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	232	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse		p.D232N(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CTGGCCCAGTGACATCATCCG	0.577000													11	29					0.010729	0.0108829	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55892742	55892742	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr10:55892742C>T	ENST00000373965.2	-	16	2225	c.1831G>A	c.(1831-1833)Gaa>Aaa	p.E611K	PCDH15_ENST00000395432.2_Missense_Mutation_p.E567K|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.E604K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E611K|PCDH15_ENST00000395430.1_Missense_Mutation_p.E604K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E609K|PCDH15_ENST00000409834.1_Missense_Mutation_p.E215K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E582K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E604K|PCDH15_ENST00000373957.3_Missense_Mutation_p.E582K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.E604K|PCDH15_ENST00000373955.1_Missense_Mutation_p.E604K|PCDH15_ENST00000395446.1_Missense_Mutation_p.E604K	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	604	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGAAGCACTTCAATATACACA	0.403000										HNSCC(58;0.16)			5	32					0	0	1	0	0
ADRA2B	151	broad.mit.edu	37	2	96781855	96781855	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:96781855T>A	ENST00000409345.3	-	1	129	c.34A>T	c.(34-36)Aca>Tca	p.T12S		NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	12					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	ATGGCCGCTGTGGCCTGCACG	0.677000													5	11					0	0	1	0	0
ZNF706	51123	broad.mit.edu	37	8	102213962	102213962	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr8:102213962C>G	ENST00000520347.1	-	2	2964	c.8G>C	c.(7-9)cGt>cCt	p.R3P	ZNF706_ENST00000519882.1_Missense_Mutation_p.R3P|ZNF706_ENST00000519744.1_Missense_Mutation_p.R3P|ZNF706_ENST00000518336.1_Missense_Mutation_p.R3P|ZNF706_ENST00000517844.1_Missense_Mutation_p.R3P|ZNF706_ENST00000311212.4_Missense_Mutation_p.R3P|ZNF706_ENST00000521272.1_Missense_Mutation_p.R3P|ZNF706_ENST00000520984.1_Missense_Mutation_p.R3P			Q9Y5V0	ZN706_HUMAN	zinc finger protein 706	3						intracellular	zinc ion binding	p.R3P(2)		large_intestine(1)|ovary(2)	3	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			CTGCTGTCCACGAGCCATATC	0.398000													5	23					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37563801	37563801	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:37563801G>A	ENST00000300651.6	-	17	4896	c.4673C>T	c.(4672-4674)tCa>tTa	p.S1558L	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1558					androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GCTGAGCCTTGAGGGTCTGTC	0.448000										HNSCC(31;0.082)			18	61					0	0	1	0	0
MB21D2	151963	broad.mit.edu	37	3	192516539	192516539	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr3:192516539T>C	ENST00000392452.2	-	2	1432	c.1112A>G	c.(1111-1113)aAc>aGc	p.N371S		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	371										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GCACATCTTGTTGACCAGACA	0.532000													11	36					0	0	1	0	0
RBMXL1	494115	broad.mit.edu	37	1	89448636	89448636	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:89448636G>A	ENST00000399794.2	-	3	1589	c.874C>T	c.(874-876)Cgt>Tgt	p.R292C	CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.R292C|CCBL2_ENST00000370491.3_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	292	Ser-rich.						nucleotide binding|RNA binding										GGAGCACTACGTGAGTTACCA	0.478000													64	147					0	0	1	0	0
PKNOX2	63876	broad.mit.edu	37	11	125300029	125300029	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:125300029A>T	ENST00000298282.9	+	12	1455	c.1184A>T	c.(1183-1185)aAc>aTc	p.N395I	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.N331I	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	395						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CCAGGGACAAACCCCGATGGT	0.607000													22	52					0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	90003779	90003779	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:90003779C>T	ENST00000428670.3	-	15	2833	c.2377G>A	c.(2377-2379)Gct>Act	p.A793T	ATP2B1_ENST00000393164.2_Missense_Mutation_p.A536T|ATP2B1_ENST00000348959.3_Missense_Mutation_p.A793T|ATP2B1_ENST00000359142.3_Missense_Mutation_p.A793T|ATP2B1_ENST00000261173.2_Missense_Mutation_p.A793T			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	793					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CCAGTTACAGCTACAACCTGG	0.348000													18	40					0	0	1	0	0
RP1-241P17.4	0	broad.mit.edu	37	X	114953312	114953312	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:114953312C>T	ENST00000449327.1	-	1	357	c.238G>A	c.(238-240)Gat>Aat	p.D80N																								GTATCTTCATCCTCCATTTCC	0.453000													8	53					0	0	1	0	0
RNF103	7844	broad.mit.edu	37	2	86832363	86832363	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:86832363C>G	ENST00000237455.4	-	4	1629	c.661G>C	c.(661-663)Gaa>Caa	p.E221Q	RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000424788.1_RNA|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000597638.1_RNA|RNF103_ENST00000477307.1_5'UTR	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	221					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						TTCAAGTGTTCAGCATTATAA	0.373000													16	49					0	0	1	0	0
FBXO25	26260	broad.mit.edu	37	8	381441	381441	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr8:381441C>G	ENST00000276326.5	+	3	354	c.235C>G	c.(235-237)Caa>Gaa	p.Q79E	FBXO25_ENST00000352684.2_Silent_p.L28L|FBXO25_ENST00000382824.1_Silent_p.L28L|FBXO25_ENST00000350302.3_Missense_Mutation_p.Q79E	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25	79	Interaction with beta-actin.					nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		CACAAATACTCAAAGTAAGAT	0.264000													4	6					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60703846	60703846	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:60703846G>C	ENST00000005286.4	+	11	2695	c.2542G>C	c.(2542-2544)Gag>Cag	p.E848Q	TMEM132A_ENST00000453848.2_Missense_Mutation_p.E847Q	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	847	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CACTGAGCTAGAGCTGGGCAT	0.597000													62	116					0	0	1	0	0
UBE3C	9690	broad.mit.edu	37	7	157013389	157013389	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:157013389C>G	ENST00000348165.5	+	15	2281	c.1921C>G	c.(1921-1923)Cag>Gag	p.Q641E		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	641					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		ACAGGTCACTCAGCTCTATGT	0.557000													11	35					0	0	1	0	0
MLLT1	4298	broad.mit.edu	37	19	6217980	6217980	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:6217980G>C	ENST00000252674.7	-	7	1346	c.1183C>G	c.(1183-1185)Cag>Gag	p.Q395E		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	395					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CTGTGGTTCTGGGATGGCTCG	0.632000			T	MLL	AL								26	27					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21630575	21630575	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:21630575T>A	ENST00000328843.6	+	13	2240	c.2209T>A	c.(2209-2211)Ttg>Atg	p.L737M	DNAH11_ENST00000409508.3_Missense_Mutation_p.L737M			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	737	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCTTTTGATGTTGAAGAAACA	0.279000									Kartagener syndrome				3	1					0	0	1	0	0
IRF3	3661	broad.mit.edu	37	19	50165707	50165707	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:50165707C>T	ENST00000597198.1	-	5	957	c.576G>A	c.(574-576)ctG>ctA	p.L192L	IRF3_ENST00000596822.1_Silent_p.L46L|IRF3_ENST00000377135.4_Silent_p.L192L|IRF3_ENST00000600911.1_Silent_p.L192L|IRF3_ENST00000599144.1_Silent_p.L46L|IRF3_ENST00000593922.1_Silent_p.L46L|IRF3_ENST00000309877.7_Silent_p.L192L|IRF3_ENST00000600022.1_Silent_p.L46L|IRF3_ENST00000598808.1_Silent_p.L46L|IRF3_ENST00000596765.1_Silent_p.L46L|IRF3_ENST00000601291.1_Silent_p.L192L|IRF3_ENST00000377139.3_Silent_p.L192L|IRF3_ENST00000599223.1_Silent_p.L192L			Q14653	IRF3_HUMAN	interferon regulatory factor 3	192					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		ACAGCCGCTTCAGTGGGTTCT	0.662000													3	11					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56716227	56716227	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:56716227G>A	ENST00000425394.2	-	19	3065	c.2689C>T	c.(2689-2691)Ctt>Ttt	p.L897F	PAN2_ENST00000257931.5_Missense_Mutation_p.L896F|PAN2_ENST00000548043.1_Missense_Mutation_p.L897F|PAN2_ENST00000440411.3_Missense_Mutation_p.L893F	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	897					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GGTTCAATAAGAAAGTCATTG	0.408000													13	41					0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80772798	80772798	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:80772798C>T	ENST00000355528.4	+	13	1436	c.1306C>T	c.(1306-1308)Cga>Tga	p.R436*	TBCD_ENST00000397466.2_Nonsense_Mutation_p.R50*|TBCD_ENST00000539345.2_Nonsense_Mutation_p.R436*	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	436					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GCTGCCGTCTCGACTCGTGGA	0.627000													5	24					0	0	1	0	0
SLC24A2	25769	broad.mit.edu	37	9	19619639	19619639	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr9:19619639G>C	ENST00000341998.2	-	3	1082	c.1021C>G	c.(1021-1023)Ctc>Gtc	p.L341V	SLC24A2_ENST00000286344.3_Missense_Mutation_p.L341V	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	341					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TTCCTCATGAGACTGTTGTGG	0.498000													28	83					0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110763162	110763162	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:110763162G>A	ENST00000451085.1	+	4	1380	c.334G>A	c.(334-336)Gta>Ata	p.V112I	IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.V112I|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.V112I|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000450877.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	112						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CAATATTAATGTAAAAAAGAT	0.358000													8	39					0	0	1	0	0
CHRNA6	8973	broad.mit.edu	37	8	42611822	42611822	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr8:42611822G>T	ENST00000276410.2	-	5	875	c.520C>A	c.(520-522)Cta>Ata	p.L174I	CHRNA6_ENST00000534622.1_Missense_Mutation_p.L159I	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	174						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CCAAATTTTAGGGAACAGTTT	0.368000													18	70					1.99824e-07	2.09445e-07	1	1	0
GLIS3	169792	broad.mit.edu	37	9	4286392	4286392	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr9:4286392G>A	ENST00000381971.3	-	2	627	c.34C>T	c.(34-36)Cgg>Tgg	p.R12W		NM_001042413.1	NP_001035878.1	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	0					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CCCGATGTCCGGTGGAGACTC	0.552000													12	26					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169526007	169526007	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:169526007C>G	ENST00000367796.3	-	6	1030	c.829G>C	c.(829-831)Gag>Cag	p.E277Q	F5_ENST00000546081.1_Missense_Mutation_p.E140Q|F5_ENST00000367797.3_Missense_Mutation_p.E277Q			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	277	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGGTTCTGCTCCAGGACCTGG	0.498000													18	42					0	0	1	0	0
PRKACB	5567	broad.mit.edu	37	1	84668368	84668368	+	Silent	SNP	C	C	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:84668368C>A	ENST00000370689.2	+	8	909	c.645C>A	c.(643-645)ggC>ggA	p.G215G	PRKACB_ENST00000394839.2_Silent_p.G185G|PRKACB_ENST00000370680.1_Silent_p.G221G|PRKACB_ENST00000370682.3_Silent_p.G219G|PRKACB_ENST00000394838.2_Silent_p.G222G|PRKACB_ENST00000370685.3_Silent_p.G262G|PRKACB_ENST00000370688.3_Silent_p.G215G	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	215	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TATCTCAGGGCTACAATAAGG	0.373000													19	69					3.32936e-07	3.47678e-07	1	1	0
C22orf29	79680	broad.mit.edu	37	22	19839757	19839757	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr22:19839757C>A	ENST00000405640.1	-	2	696	c.28G>T	c.(28-30)Ggc>Tgc	p.G10C	GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.G10C|C22orf29_ENST00000328554.4_Missense_Mutation_p.G10C|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000460402.1_Intron			Q7L3V2	CV029_HUMAN	chromosome 22 open reading frame 29	10										NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					ATGCGAGGGCCCTGCTGACGG	0.637000													35	62					4.14481e-20	4.46e-20	1	1	0
TUBB	203068	broad.mit.edu	37	6	30690335	30690335	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:30690335G>A	ENST00000396389.1	+	2	618	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	TUBB_ENST00000330914.3_5'UTR|TUBB_ENST00000327892.8_Missense_Mutation_p.E27K|TUBB_ENST00000435534.1_Missense_Mutation_p.E27K|TUBB_ENST00000396384.1_5'UTR			P07437	TBB5_HUMAN	tubulin, beta class I	27					cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	GATCAGTGATGAACATGGCAT	0.552000													16	29					0	0	1	0	0
IRF3	3661	broad.mit.edu	37	19	50165479	50165479	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:50165479C>T	ENST00000597198.1	-	6	1089	c.708G>A	c.(706-708)agG>agA	p.R236R	IRF3_ENST00000596822.1_Intron|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000600911.1_Silent_p.R236R|IRF3_ENST00000599144.1_Silent_p.R90R|IRF3_ENST00000593922.1_Silent_p.R90R|IRF3_ENST00000309877.7_Silent_p.R236R|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000598808.1_Silent_p.R90R|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000601291.1_Silent_p.R236R|IRF3_ENST00000377139.3_Silent_p.R236R|IRF3_ENST00000599223.1_Intron			Q14653	IRF3_HUMAN	interferon regulatory factor 3	236	Involved in HERC5 binding.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		CAGGCAGCGTCCTGTCTCCCA	0.642000													12	39					0	0	1	0	0
FBXO34	55030	broad.mit.edu	37	14	55819051	55819051	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr14:55819051G>A	ENST00000313833.4	+	2	2188	c.1943G>A	c.(1942-1944)cGa>cAa	p.R648Q	FBXO34_ENST00000440021.1_Missense_Mutation_p.R648Q	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	648										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TCCCTGTGCCGATGGCACCCC	0.552000													20	80					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227661962	227661962	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:227661962G>A	ENST00000305123.4	-	1	2513	c.1493C>T	c.(1492-1494)aCa>aTa	p.T498I		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	498					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCCCAAGCCTGTTCCTGGGGT	0.602000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	70					0	0	1	0	0
CCDC110	256309	broad.mit.edu	37	4	186382220	186382220	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr4:186382220G>A	ENST00000307588.3	-	5	406	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	CCDC110_ENST00000507501.1_5'UTR|CCDC110_ENST00000510617.1_Missense_Mutation_p.R111C|CCDC110_ENST00000393540.3_Intron	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	111						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTTTCAATGCGCGTGCCAAAC	0.338000													15	45					0	0	1	0	0
CNTROB	116840	broad.mit.edu	37	17	7838386	7838386	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:7838386C>T	ENST00000380262.3	+	4	1442	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	CNTROB_ENST00000380255.3_Missense_Mutation_p.R173W|CNTROB_ENST00000563694.1_Missense_Mutation_p.R173W|CNTROB_ENST00000565740.1_Missense_Mutation_p.R173W	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	173					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CACCAGCCTTCGGCCAGGGCC	0.567000													15	85					0	0	1	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19436279	19436279	+	Missense_Mutation	SNP	A	A	G	rs142101396		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:19436279A>G	ENST00000538714.1	+	11	1365	c.1361A>G	c.(1360-1362)tAc>tGc	p.Y454C	PLEKHA5_ENST00000359180.3_Missense_Mutation_p.Y454C|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.Y454C|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.Y454C|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.Y454C|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.Y346C|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.Y212C|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.Y346C|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.Y454C|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.Y460C	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	454							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ATGGCCCGCTACCCTGAAGGT	0.393000													20	40					0	0	1	0	0
RRAD	6236	broad.mit.edu	37	16	66956067	66956067	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr16:66956067C>T	ENST00000299759.6	-	5	1089	c.839G>A	c.(838-840)cGc>cAc	p.R280H	RRAD_ENST00000420652.1_Missense_Mutation_p.R280H			P55042	RAD_HUMAN	Ras-related associated with diabetes	280	Calmodulin-binding.				small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GCCCAAGAAGCGCTTCGCCTT	0.622000													20	38					0	0	1	0	0
NBPF12	149013	broad.mit.edu	37	1	146398477	146398477	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:146398477G>A	ENST00000442909.2	+	7	1299	c.463G>A	c.(463-465)Gca>Aca	p.A155T	NBPF12_ENST00000309471.8_Missense_Mutation_p.A80T|NBPF12_ENST00000446760.2_Missense_Mutation_p.A155T					neuroblastoma breakpoint family, member 12											ovary(2)	2						GTGTAGACTGGCACAGCAACT	0.572000													20	138					0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145113912	145113912	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr8:145113912C>G	ENST00000426825.1	-	4	515	c.434G>C	c.(433-435)gGa>gCa	p.G145A	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	145							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GCCCGCCTCTCCACGGTGCAG	0.677000													2	3					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200959461	200959461	+	Splice_Site	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:200959461C>T	ENST00000332129.2	-	20	3152		c.e20-1		KIF21B_ENST00000461742.2_Splice_Site|KIF21B_ENST00000422435.2_Splice_Site|KIF21B_ENST00000360529.5_Splice_Site	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCTCCCTTTTCTGGGGTCAGA	0.642000													3	11					0	0	1	0	0
ABCD4	5826	broad.mit.edu	37	14	74759535	74759535	+	Silent	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr14:74759535C>G	ENST00000356924.4	-	9	995	c.852G>C	c.(850-852)ctG>ctC	p.L284L	ABCD4_ENST00000557554.1_Intron|ABCD4_ENST00000557588.1_3'UTR|ABCD4_ENST00000298816.7_Silent_p.L180L|AC005519.4_ENST00000554532.2_RNA	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	284	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		CAACGTAACTCAGGATGCTGC	0.537000													15	58					0	0	1	0	0
KPNA2	3838	broad.mit.edu	37	17	66039250	66039250	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:66039250C>G	ENST00000537025.2	+	7	1321	c.701C>G	c.(700-702)tCt>tGt	p.S234C	KPNA2_ENST00000330459.3_Missense_Mutation_p.S234C			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	234	NLS binding site (major) (By similarity).				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGGACACTTTCTAATCTTTGC	0.438000													91	218					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38976759	38976759	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:38976759G>A	ENST00000355481.4	+	34	5595	c.5464G>A	c.(5464-5466)Ggt>Agt	p.G1822S	RYR1_ENST00000360985.3_Missense_Mutation_p.G1822S|RYR1_ENST00000359596.3_Missense_Mutation_p.G1822S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1822	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.G1822C(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGTGCGCGACGGTGGGCAGCA	0.701000													31	93					0	0	1	0	0
ZC4H2	55906	broad.mit.edu	37	X	64141759	64141759	+	Silent	SNP	G	G	A	rs149976823	byFrequency	TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:64141759G>A	ENST00000545618.1	-	3	711	c.148C>T	c.(148-150)Ctg>Ttg	p.L50L	ZC4H2_ENST00000374839.3_Silent_p.L55L|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000447788.2_Silent_p.L55L|ZC4H2_ENST00000337990.2_Silent_p.L32L			Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	55							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCCTGTAGCAGAAGGTCCATC	0.517000													8	25					0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73627315	73627315	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:73627315G>A	ENST00000317905.5	-	10	1622	c.1463C>T	c.(1462-1464)tCt>tTt	p.S488F	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.S461F	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	488					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GCTGCCTCCAGAACCTTCGTC	0.612000								Other identified genes with known or suspected DNA repair function					15	57					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64633621	64633621	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr3:64633621C>T	ENST00000498707.1	-	11	2047	c.1705G>A	c.(1705-1707)Gga>Aga	p.G569R	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.G541R	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	569	Disintegrin.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTTGCCTTTCCAGGCTCGCAC	0.507000													28	45					0	0	1	0	0
GRAMD4	23151	broad.mit.edu	37	22	47063993	47063993	+	Splice_Site	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr22:47063993G>A	ENST00000406902.1	+	11	1072	c.858_splice	c.e11-1	p.E287_splice	GRAMD4_ENST00000361034.3_Splice_Site_p.E287_splice			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	287					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		TTTACTGAAGGAACCTCCAAA	0.542000													13	25					0	0	1	0	0
ODAM	54959	broad.mit.edu	37	4	71063017	71063017	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr4:71063017A>T	ENST00000396094.2	+	3	168	c.120A>T	c.(118-120)caA>caT	p.Q40H		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	40					biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						ATAATGGTCAACTTTTGCCAC	0.274000													5	23					0	0	1	0	0
MIXL1	83881	broad.mit.edu	37	1	226413313	226413313	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:226413313G>A	ENST00000366810.5	+	2	563	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	MIXL1_ENST00000557734.1_3'UTR|MIXL1_ENST00000542034.1_Missense_Mutation_p.E175K			Q9H2W2	MIXL1_HUMAN	Mix paired-like homeobox	167					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		TCCTGGAACTGAAACGAAATG	0.557000													37	66					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56716463	56716463	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:56716463G>A	ENST00000425394.2	-	18	2961	c.2585C>T	c.(2584-2586)tCa>tTa	p.S862L	PAN2_ENST00000257931.5_Missense_Mutation_p.S861L|PAN2_ENST00000548043.1_Missense_Mutation_p.S862L|PAN2_ENST00000440411.3_Missense_Mutation_p.S858L	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	862					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CCCTGTGCGTGAGTCCAGGAT	0.602000													33	53					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21015749	21015749	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:21015749T>C	ENST00000381545.3	+	8	907	c.688T>C	c.(688-690)Ttt>Ctt	p.F230L	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.F230L|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.F230L|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.F230L	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	230					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GGGATCTCTGTTTGCTAAAAT	0.358000													9	32					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105799274	105799274	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr10:105799274G>C	ENST00000353479.5	-	43	3115	c.2825C>G	c.(2824-2826)tCc>tGc	p.S942C	COL17A1_ENST00000369733.3_Intron	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	942	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GAAAGAACTGGACCCTGGAAG	0.602000													23	50					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12958271	12958271	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr8:12958271A>T	ENST00000276297.4	-	9	1984	c.1575T>A	c.(1573-1575)gaT>gaA	p.D525E	DLC1_ENST00000512044.2_Missense_Mutation_p.D122E|DLC1_ENST00000520226.1_Missense_Mutation_p.D14E|DLC1_ENST00000358919.2_Missense_Mutation_p.D88E	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	525					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CCTCGTCTGAATCGTCACTCT	0.527000													12	32					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22181343	22181343	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:22181343G>C	ENST00000374695.3	-	48	6210	c.6131C>G	c.(6130-6132)tCa>tGa	p.S2044*	HSPG2_ENST00000430507.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2044	Ig-like C2-type 5.				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)	GTCCGTACCTGAAAGGACAAC	0.667000													4	24					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32662422	32662422	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:32662422C>T	ENST00000357033.4	-	11	1364	c.1158G>A	c.(1156-1158)atG>atA	p.M386I	DMD_ENST00000378677.2_Missense_Mutation_p.M382I|DMD_ENST00000288447.4_Missense_Mutation_p.M378I	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	386					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCAAATCCATCATGTACCCCT	0.378000													20	58					0	0	1	0	0
ZFP69	339559	broad.mit.edu	37	1	40945119	40945119	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:40945119C>T	ENST00000372706.1	+	2	1092	c.86C>T	c.(85-87)gCg>gTg	p.A29V	ZFP69_ENST00000372705.3_Missense_Mutation_p.A29V					ZFP69 zinc finger protein									p.A29V(1)									GTGGAGGGGGCGCCCCTGTGG	0.547000													11	37					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53837489	53837489	+	Silent	SNP	G	G	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr3:53837489G>T	ENST00000288139.3	+	45	5653	c.5535G>T	c.(5533-5535)cgG>cgT	p.R1845R	CACNA1D_ENST00000350061.5_Silent_p.R1825R|CACNA1D_ENST00000544977.1_Silent_p.R204R|CACNA1D_ENST00000422281.2_Silent_p.R1801R	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1825					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CTATTTGCCGGGAAGACCCAG	0.552000													32	108					6.00712e-18	6.43945e-18	1	1	0
TMEM189	387521	broad.mit.edu	37	20	48760046	48760046	+	Silent	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr20:48760046G>C	ENST00000557021.1	-	2	394	c.234C>G	c.(232-234)ctC>ctG	p.L78L	TMEM189_ENST00000371650.5_Silent_p.L78L|TMEM189_ENST00000371652.4_Silent_p.L78L|TMEM189-UBE2V1_ENST00000341698.2_Silent_p.L78L	NM_199203.2	NP_954673.1			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			CACCAACACCGAGTATGACGA	0.627000													7	7					0	0	1	0	0
PRIMA1	145270	broad.mit.edu	37	14	94245529	94245529	+	Silent	SNP	G	G	C	rs145840548	byFrequency	TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr14:94245529G>C	ENST00000393140.1	-	3	324	c.222C>G	c.(220-222)tcC>tcG	p.S74S	PRIMA1_ENST00000316227.3_Silent_p.S74S|PRIMA1_ENST00000393143.1_Silent_p.S74S	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	74					neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		TACCTggggcggagaggagtc	0.652000													4	6					0	0	1	0	0
SLC18B1	116843	broad.mit.edu	37	6	133092078	133092078	+	Splice_Site	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:133092078C>T	ENST00000275227.4	-	13	1351	c.1254_splice	c.e13-1	p.G419_splice		NM_052831.2	NP_439896.1	Q6NT16	CF192_HUMAN	solute carrier family 18, subfamily B, member 1	419					transmembrane transport	integral to membrane											ATGGCTAATCCCTTAAACACA	0.323000													32	68					0	0	1	0	0
ZMAT5	55954	broad.mit.edu	37	22	30138423	30138423	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr22:30138423C>T	ENST00000397781.3	-	4	424	c.174G>A	c.(172-174)agG>agA	p.R58R	ZMAT5_ENST00000344318.3_Silent_p.R58R	NM_019103.2	NP_061976.1	Q9UDW3	ZMAT5_HUMAN	zinc finger, matrin-type 5	58					mRNA processing	cytoplasm|U12-type spliceosomal complex	nucleic acid binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)			GTAGAAACTTCCTGCAGGGCC	0.582000													21	68					0	0	1	0	0
FAM53B	9679	broad.mit.edu	37	10	126311885	126311885	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr10:126311885C>T	ENST00000337318.3	-	5	1406	c.1195G>A	c.(1195-1197)Gac>Aac	p.D399N	RP11-12J10.3_ENST00000494792.1_Intron|FAM53B_ENST00000392754.3_Missense_Mutation_p.D399N	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	399										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		GCCCCGCGGTCCCGCCAGGCT	0.677000													19	44					0	0	1	0	0
KCNG2	26251	broad.mit.edu	37	18	77659747	77659747	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr18:77659747G>A	ENST00000316249.3	+	2	1332	c.1332G>A	c.(1330-1332)tcG>tcA	p.S444S	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	444					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		AGGACAGCTCGCAGGGCCCCG	0.756000													8	22					0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56525335	56525335	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:56525335C>T	ENST00000394048.5	+	6	1053	c.789C>T	c.(787-789)ttC>ttT	p.F263F	ESYT1_ENST00000267113.4_Silent_p.F263F|ESYT1_ENST00000541590.1_Silent_p.F263F	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	263						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TGTCAATGTTCTTCATCCGAC	0.537000													50	106					0	0	1	0	0
COL9A2	1298	broad.mit.edu	37	1	40767522	40767522	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:40767522C>T	ENST00000372748.3	-	31	1928	c.1832G>A	c.(1831-1833)cGg>cAg	p.R611Q	COL9A2_ENST00000466267.1_5'UTR	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	611	Triple-helical region 2 (COL2).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GGGGTGCCCCCGTCCCACTTC	0.512000													7	19					0	0	1	0	0
PCK2	5106	broad.mit.edu	37	14	24569206	24569206	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr14:24569206C>T	ENST00000545054.2	+	7	1534	c.616C>T	c.(616-618)Cga>Tga	p.R206*	PCK2_ENST00000216780.4_Nonsense_Mutation_p.R340*|PCK2_ENST00000396973.4_Nonsense_Mutation_p.R340*|PCK2_ENST00000561286.1_Nonsense_Mutation_p.R206*|NRL_ENST00000561028.1_Intron|PCK2_ENST00000558096.1_Nonsense_Mutation_p.R206*|PCK2_ENST00000559250.1_Nonsense_Mutation_p.R352*			Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	340					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		CCTAACAGGTCGACTCCGGGC	0.532000													41	118					0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6023761	6023761	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:6023761C>T	ENST00000330728.4	-	1	663	c.618G>A	c.(616-618)cgG>cgA	p.R206R		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAAGGCATTCCGGGCTATAA	0.488000													19	16					0	0	1	0	0
TAAR9	134860	broad.mit.edu	37	6	132859895	132859895	+	RNA	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:132859895C>T	ENST00000434551.1	+	0	467					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		ATTGTTCTTTCCTGGTTCTTT	0.413000													14	47					0	0	1	0	0
NME2	4831	broad.mit.edu	37	17	49247332	49247332	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:49247332G>A	ENST00000555572.1	+	8	859	c.683G>A	c.(682-684)cGa>cAa	p.R228Q	NME1-NME2_ENST00000503064.1_Missense_Mutation_p.R88Q|NME2_ENST00000393183.3_Missense_Mutation_p.R13Q|NME2_ENST00000393198.2_Missense_Mutation_p.R88Q|NME1-NME2_ENST00000514264.2_Missense_Mutation_p.R88Q|NME1-NME2_ENST00000512737.1_Missense_Mutation_p.R88Q|NME1-NME2_ENST00000513177.1_Missense_Mutation_p.R88Q|NME2_ENST00000393185.1_Missense_Mutation_p.R13Q|NME2_ENST00000376392.6_Intron|NME1-NME2_ENST00000393190.1_Missense_Mutation_p.R88Q|NME2_ENST00000393193.2_Missense_Mutation_p.R203Q					NME/NM23 nucleoside diphosphate kinase 2											endometrium(1)|kidney(1)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			AAGACAGGCCGAGTGATGCTT	0.527000													21	45					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34648090	34648090	+	Silent	SNP	C	C	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr15:34648090C>A	ENST00000537011.1	+	8	2263	c.1881C>A	c.(1879-1881)ggC>ggA	p.G627G	NUTM1_ENST00000333756.4_Silent_p.G599G|NUTM1_ENST00000438749.3_Silent_p.G617G					NUT midline carcinoma, family member 1																		ATCAGGATGGCCATCTAGGAG	0.592000													10	26					2.17888e-05	2.25869e-05	1	1	0
BCKDHB	594	broad.mit.edu	37	6	80912822	80912822	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:80912822C>G	ENST00000320393.6	+	8	891	c.844C>G	c.(844-846)Cat>Gat	p.H282D	BCKDHB_ENST00000356489.5_Missense_Mutation_p.H282D|BCKDHB_ENST00000545529.1_3'UTR	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	282					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		ATTTCAGGTTCATGTGATCCG	0.378000													17	29					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256212	140256212	+	Silent	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr5:140256212C>G	ENST00000398631.2	+	1	1155	c.1155C>G	c.(1153-1155)gtC>gtG	p.V385V	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGACAGGTCATCTGCTCAC	0.552000													41	94					0	0	1	0	0
BARD1	580	broad.mit.edu	37	2	215646136	215646136	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:215646136G>A	ENST00000260947.4	-	4	596	c.462C>T	c.(460-462)gtC>gtT	p.V154V	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Silent_p.V10V	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	154					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CAACATATCTGACTTTCTTAC	0.368000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				11	41					0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6592181	6592181	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr9:6592181C>A	ENST00000321612.6	-	11	1594	c.1444G>T	c.(1444-1446)Gac>Tac	p.D482Y		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	482					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AACAAATCGTCCAGATCTTTT	0.373000													15	44					5.01169e-05	5.17631e-05	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62291338	62291338	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:62291338G>A	ENST00000378024.4	-	5	10825	c.10551C>T	c.(10549-10551)ctC>ctT	p.L3517L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3517					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCCACATTGAGATCTGGGC	0.473000													31	107					0	0	1	0	0
IL13RA2	3598	broad.mit.edu	37	X	114239876	114239876	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:114239876C>T	ENST00000371936.1	-	10	1249	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K	IL13RA2_ENST00000243213.1_Missense_Mutation_p.E334K			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	334	Fibronectin type-III 3.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						GATAGGTCTTCACCTAGGATT	0.348000													15	44					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70503966	70503966	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:70503966A>C	ENST00000310961.5	+	22	2778	c.2360A>C	c.(2359-2361)gAg>gCg	p.E787A	LRRC7_ENST00000415775.2_Missense_Mutation_p.E66A|LRRC7_ENST00000035383.5_Missense_Mutation_p.E782A			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	782						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTTGTTGCTGAGGAAACCACA	0.498000													49	120					0	0	1	0	0
EWSR1	2130	broad.mit.edu	37	22	29682945	29682945	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr22:29682945G>A	ENST00000397938.2	+	7	934	c.615G>A	c.(613-615)caG>caA	p.Q205Q	EWSR1_ENST00000332050.6_Silent_p.Q205Q|EWSR1_ENST00000406548.1_Silent_p.Q205Q|EWSR1_ENST00000414183.2_Silent_p.Q211Q|EWSR1_ENST00000331029.7_Silent_p.Q205Q|EWSR1_ENST00000333395.6_Silent_p.Q205Q|EWSR1_ENST00000332035.6_Silent_p.Q149Q	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	205	31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTTATGATCAGAGCAGTTACT	0.443000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""								23	53					0	0	1	0	0
FANCD2OS	115795	broad.mit.edu	37	3	10146360	10146360	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr3:10146360G>C	ENST00000450660.2	-	2	315	c.99C>G	c.(97-99)ttC>ttG	p.F33L	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.F33L	NM_001164839.1	NP_001158311.1			FANCD2 opposite strand																		GGGAGGCCTTGAATGGGTGCT	0.562000													15	73					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40900809	40900809	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:40900809G>A	ENST00000324001.7	-	7	3720	c.3450C>T	c.(3448-3450)atC>atT	p.I1150I	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1150	Glu-rich (acidic).				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTGGCAGGGAGATGCCCAGCG	0.652000													4	68					0	0	1	0	0
SLC44A4	80736	broad.mit.edu	37	6	31833291	31833291	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:31833291C>T	ENST00000544672.1	-	16	1738	c.1442G>A	c.(1441-1443)cGc>cAc	p.R481H	SLC44A4_ENST00000375562.4_Missense_Mutation_p.R515H|SLC44A4_ENST00000229729.6_Missense_Mutation_p.R557H	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	557						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GTATGCATTGCGGTTTAGGAA	0.527000													24	64					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166897882	166897882	+	Silent	SNP	T	T	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:166897882T>C	ENST00000423058.2	-	13	2291	c.2274A>G	c.(2272-2274)aaA>aaG	p.K758K	SCN1A_ENST00000375405.3_Silent_p.K747K|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.K730K|SCN1A_ENST00000303395.4_Silent_p.K758K|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	758						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGACAACATGTTTCACTTTTA	0.403000													26	53					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152845573	152845573	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:152845573C>T	ENST00000263519.4	+	20	3606	c.3480C>T	c.(3478-3480)gaC>gaT	p.D1160D	ATP2B3_ENST00000370186.1_3'UTR|ATP2B3_ENST00000359149.3_3'UTR|ATP2B3_ENST00000370181.2_3'UTR|ATP2B3_ENST00000349466.2_Silent_p.D1160D	NM_001001344.2	NP_001001344.1	Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1160					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCTCATTGACGACACGGACG	0.587000													74	168					0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68857396	68857396	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr10:68857396A>G	ENST00000361320.4	+	3	2166	c.1588A>G	c.(1588-1590)Ata>Gta	p.I530V	CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron|LRRTM3_ENST00000485868.1_3'UTR|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	530						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CCAGCCCACAATAAGTTACTG	0.413000													36	64					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38652509	38652509	+	RNA	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr10:38652509G>C	ENST00000494540.1	+	0	499					NR_003086.1																						GGAGGTGTTTGAGACCGATGT	0.458000													9	36					0	0	1	0	0
ATMIN	23300	broad.mit.edu	37	16	81075963	81075963	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr16:81075963G>A	ENST00000566488.1	+	2	1035	c.72G>A	c.(70-72)ctG>ctA	p.L24L	ATMIN_ENST00000299575.4_Silent_p.L180L|ATMIN_ENST00000564241.1_Silent_p.L24L|ATMIN_ENST00000539819.1_Intron			O43313	ATMIN_HUMAN	ATM interactor	180	Ala-rich.				response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AATGGGACCTGAAAAGACATG	0.507000													27	62					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202149973	202149973	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:202149973C>T	ENST00000358485.4	+	8	1610	c.1414C>T	c.(1414-1416)Cga>Tga	p.R472*	CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264274.9_Nonsense_Mutation_p.R329*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R430*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R398*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.R413*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	413					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TGTTTCCTACCGAAACCCTGC	0.488000										HNSCC(4;0.00038)			22	61					0	0	1	0	0
UPK3B	80761	broad.mit.edu	37	7	76142444	76142444	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:76142444G>A	ENST00000443097.2	+	4	730	c.505G>A	c.(505-507)Gag>Aag	p.E169K	UPK3B_ENST00000334348.3_Missense_Mutation_p.E169K|UPK3B_ENST00000257632.5_Intron|UPK3B_ENST00000448265.3_Intron|UPK3B_ENST00000394849.1_Intron|UPK3B_ENST00000419923.2_Intron			Q9BT76	UPK3B_HUMAN	uroplakin 3B	0					negative regulation of gene expression	integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				ACCCAGGGCTGAGACCAAGTG	0.657000													5	20					0	0	1	0	0
SLC2A13	114134	broad.mit.edu	37	12	40441950	40441950	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:40441950G>A	ENST00000280871.4	-	2	669	c.619C>T	c.(619-621)Cga>Tga	p.R207*	SLC2A13_ENST00000380858.1_Nonsense_Mutation_p.R207*	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	207						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GTGACTAATCGGCCTCTTAAA	0.428000										HNSCC(50;0.14)			25	76					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	28					0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8563897	8563897	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:8563897G>A	ENST00000423345.4	-	2	1315	c.795C>T	c.(793-795)gaC>gaT	p.D265D	PRAM1_ENST00000255612.3_Silent_p.D265D			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	313	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						AGGCGCTGGAGTCGCGCTTCG	0.642000													26	24					0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6302808	6302808	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr4:6302808G>T	ENST00000226760.1	+	8	1456	c.1286G>T	c.(1285-1287)tGc>tTc	p.C429F	WFS1_ENST00000503569.1_Missense_Mutation_p.C429F	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	429					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TGCATCCCCTGCTCGGAGCTG	0.607000													45	100					3.77016e-25	4.08795e-25	1	1	0
ATRX	546	broad.mit.edu	37	X	76938924	76938924	+	Silent	SNP	A	A	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:76938924A>T	ENST00000373344.5	-	9	2038	c.1824T>A	c.(1822-1824)gtT>gtA	p.V608V	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.V570V	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	608					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TATCTTGTGGAACTTCCTGAC	0.358000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						92	178					0	0	1	0	0
DVL3	1857	broad.mit.edu	37	3	183888241	183888241	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr3:183888241C>T	ENST00000313143.3	+	15	2097	c.1849C>T	c.(1849-1851)Cgg>Tgg	p.R617W	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Missense_Mutation_p.R600W	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	617					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GCGGGGGCCGCGGGAGCGGGC	0.726000													4	2					0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34932274	34932274	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr21:34932274G>A	ENST00000300278.4	+	7	6778	c.6749G>A	c.(6748-6750)gGa>gAa	p.G2250E	AP000304.2_ENST00000439593.1_RNA|SON_ENST00000356577.4_Intron|SON_ENST00000290239.6_Intron|SON_ENST00000381692.2_Intron	NM_032195.1	NP_115571.1	P18583	SON_HUMAN	SON DNA binding protein	0					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TCACTTTGTGGAACCAAGCCA	0.498000													10	33					0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55519211	55519211	+	Splice_Site	SNP	A	A	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr16:55519211A>G	ENST00000219070.4	+	4	1039	c.529_splice	c.e4-1	p.E177_splice	MMP2_ENST00000570308.1_Splice_Site_p.E101_splice|MMP2_ENST00000543485.1_Splice_Site_p.E101_splice|MMP2_ENST00000437642.2_Splice_Site_p.E127_splice	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	177	Collagenase-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TGTGTTTCAGAGCATGGCGAT	0.572000													23	81					0	0	1	0	0
DEAF1	10522	broad.mit.edu	37	11	691516	691516	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:691516G>C	ENST00000382409.3	-	2	856	c.372C>G	c.(370-372)atC>atG	p.I124M	DEAF1_ENST00000338675.6_Missense_Mutation_p.I124M	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	124					embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		CATGTCCTGAGATGGATGCCG	0.647000													23	25					0	0	1	0	0
ZSCAN22	342945	broad.mit.edu	37	19	58846419	58846419	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:58846419C>T	ENST00000329665.4	+	2	398	c.251C>T	c.(250-252)tCc>tTc	p.S84F		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	84	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GAGGCGCACTCCAAGGAGCAG	0.662000													19	34					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20024301	20024301	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr13:20024301C>T	ENST00000400230.2	-	13	932	c.888G>A	c.(886-888)gaG>gaA	p.E296E	TPTE2_ENST00000457266.2_Silent_p.E185E|TPTE2_ENST00000390680.2_Silent_p.E219E|TPTE2_ENST00000400103.2_Silent_p.E185E|TPTE2_ENST00000382978.1_Silent_p.E256E|TPTE2_ENST00000382977.4_Silent_p.E296E|TPTE2_ENST00000382975.4_Silent_p.E256E|TPTE2_ENST00000255310.6_Silent_p.E219E			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	296	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAACCACCATCTCACTGATTT	0.328000													9	33					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56716930	56716930	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:56716930G>A	ENST00000425394.2	-	17	2797	c.2421C>T	c.(2419-2421)gtC>gtT	p.V807V	PAN2_ENST00000257931.5_Silent_p.V806V|PAN2_ENST00000548043.1_Silent_p.V807V|PAN2_ENST00000440411.3_Silent_p.V803V	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	807					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AAGGAAGCCAGACGTTCTTCA	0.473000													22	94					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39800393	39800393	+	Silent	SNP	A	A	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:39800393A>G	ENST00000564288.1	+	37	8910	c.8133A>G	c.(8131-8133)aaA>aaG	p.K2711K	MACF1_ENST00000289893.4_Silent_p.K1151K|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Silent_p.K2716K|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Silent_p.K2748K|MACF1_ENST00000539005.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2716					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGAAGAGAAACTGGTGGATG	0.403000													12	24					0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74921163	74921163	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:74921163T>G	ENST00000569840.2	+	9	1715	c.1141T>G	c.(1141-1143)Tcc>Gcc	p.S381A	MGAT5B_ENST00000301618.4_Missense_Mutation_p.S381A|MGAT5B_ENST00000428789.2_Missense_Mutation_p.S392A	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	381						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CATGGGACTCTCCTTCAAGAA	0.662000													19	73					0	0	1	0	0
AP4M1	9179	broad.mit.edu	37	7	99700568	99700568	+	Silent	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:99700568C>G	ENST00000429084.1	+	4	515	c.357C>G	c.(355-357)ctC>ctG	p.L119L	AP4M1_ENST00000422582.1_5'UTR|AP4M1_ENST00000478501.1_3'UTR|AP4M1_ENST00000359593.4_Silent_p.L112L|AP4M1_ENST00000421755.1_Silent_p.L112L			O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	112					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TATACGAACTCCTGGATGAAG	0.552000													17	31					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1261595	1261595	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr16:1261595A>C	ENST00000348261.5	+	23	4713	c.4465A>C	c.(4465-4467)Aac>Cac	p.N1489H	CACNA1H_ENST00000358590.4_Missense_Mutation_p.N1489H|CACNA1H_ENST00000565831.1_Missense_Mutation_p.N1489H	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1489					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CAACTTCGACAACCTGGGCCA	0.687000													7	12					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12903862	12903862	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:12903862G>C	ENST00000380659.3	+	3	374	c.235G>C	c.(235-237)Gac>Cac	p.D79H		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	79					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	CCACATACCAGACATCTCCCC	0.483000													6	157					0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148802073	148802073	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:148802073C>T	ENST00000378061.2	-	4	1022	c.890G>A	c.(889-891)cGc>cAc	p.R297H		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	297					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCGCTCCCCGCGGTGTAGACA	0.662000													9	31					0	0	1	0	0
CCDC150	284992	broad.mit.edu	37	2	197565898	197565898	+	Silent	SNP	A	A	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:197565898A>G	ENST00000389175.4	+	15	1824	c.1689A>G	c.(1687-1689)aaA>aaG	p.K563K	CCDC150_ENST00000272831.7_Silent_p.K231K	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	563										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AAAACGGAAAACTCCAGGTAT	0.328000													3	7					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202489	140202489	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr5:140202489G>T	ENST00000529859.1	+	1	1129	c.1129G>T	c.(1129-1131)Gac>Tac	p.D377Y	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.D377Y|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.D377Y	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTGACCGTGACTCAGGTGC	0.547000													39	94					9.73076e-26	1.05916e-25	1	1	0
COL28A1	340267	broad.mit.edu	37	7	7516796	7516796	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:7516796C>G	ENST00000399429.3	-	14	1320	c.1180G>C	c.(1180-1182)Gag>Cag	p.E394Q		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	394	Collagen-like 3.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GGTACTCCCTCAGGACCACGG	0.488000													4	26					0	0	1	0	0
MSL3	10943	broad.mit.edu	37	X	11786730	11786730	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:11786730C>T	ENST00000380693.3	+	9	1349	c.712C>T	c.(712-714)Ctg>Ttg	p.L238L	MSL3_ENST00000312196.4_Silent_p.L404L|MSL3_ENST00000398527.2_Silent_p.L392L|MSL3_ENST00000467141.1_3'UTR|MSL3_ENST00000361672.2_Silent_p.L255L	NM_006800.3	NP_006791.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	404					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						ACCTATTCCTCTGACTCCTAG	0.403000													18	46					0	0	1	0	0
CLCN3	1182	broad.mit.edu	37	4	170641211	170641211	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr4:170641211C>T	ENST00000347613.4	+	14	3150	c.2596C>T	c.(2596-2598)Ctt>Ttt	p.L866F	CLCN3_ENST00000513761.1_3'UTR|CLCN3_ENST00000504131.2_3'UTR|CLCN3_ENST00000360642.3_3'UTR	NM_173872.3	NP_776297.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	0					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TAGCACAACTCTTTAACCTGA	0.383000													5	37					0	0	1	0	0
CD40LG	959	broad.mit.edu	37	X	135741430	135741430	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:135741430C>T	ENST00000370629.2	+	5	698	c.642C>T	c.(640-642)tcC>tcT	p.S214S	CD40LG_ENST00000370628.2_Silent_p.S193S	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	214					anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	CCCACAGTTCCGCCAAACCTT	0.493000									Immune Deficiency with Hyper-IgM				83	214					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237320	140237320	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr5:140237320G>A	ENST00000307360.5	+	1	1687	c.1687G>A	c.(1687-1689)Gcg>Acg	p.A563T	PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACGCTCCCGCGCTGCTGGC	0.687000													24	55					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66466933	66466933	+	Silent	SNP	A	A	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:66466933A>T	ENST00000533211.1	-	18	4051	c.3720T>A	c.(3718-3720)tcT>tcA	p.S1240S	SPTBN2_ENST00000529997.1_Silent_p.S1240S|SPTBN2_ENST00000309996.2_Silent_p.S1240S			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1240					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TGTTGCCTTCAGATACCAGCT	0.552000													31	74					0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4446340	4446340	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:4446340G>A	ENST00000254718.4	-	20	3066	c.2760C>T	c.(2758-2760)gcC>gcT	p.A920A	MYBBP1A_ENST00000381556.2_Silent_p.A920A			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	920					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						AGTGGTAGAGGGCGGTGGGGG	0.662000													28	90					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61436093	61436093	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:61436093C>G	ENST00000398571.2	-	70	8936	c.8860G>C	c.(8860-8862)Gaa>Caa	p.E2954Q	USP34_ENST00000472689.1_5'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2954					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCATCAGATTCTAATAGTATT	0.294000													4	27					0	0	1	0	0
IRF3	3661	broad.mit.edu	37	19	50165569	50165569	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:50165569C>T	ENST00000597198.1	-	6	999	c.618G>A	c.(616-618)gtG>gtA	p.V206V	IRF3_ENST00000596822.1_Intron|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000600911.1_Silent_p.V206V|IRF3_ENST00000599144.1_Silent_p.V60V|IRF3_ENST00000593922.1_Silent_p.V60V|IRF3_ENST00000309877.7_Silent_p.V206V|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000598808.1_Silent_p.V60V|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000601291.1_Silent_p.V206V|IRF3_ENST00000377139.3_Silent_p.V206V|IRF3_ENST00000599223.1_Intron			Q14653	IRF3_HUMAN	interferon regulatory factor 3	206	Involved in HERC5 binding.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		AGAAGGCTGTCACCTCGAACT	0.672000													11	57					0	0	1	0	0
HLA-B	3106	broad.mit.edu	37	6	31323241	31323241	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:31323241G>C	ENST00000412585.2	-	4	776	c.748C>G	c.(748-750)Cag>Gag	p.Q250E		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCAGTGTCCTGAGTTTGGTCC	0.587000									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				40	102					0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89727993	89727993	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:89727993C>T	ENST00000343435.5	-	11	2093	c.1557G>A	c.(1555-1557)gaG>gaA	p.E519E	GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Silent_p.E519E	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	519						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GATGGAGTCTCTCCCTCTCCT	0.478000													33	80					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131388796	131388796	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr9:131388796G>A	ENST00000358161.5	+	49	6519	c.6406G>A	c.(6406-6408)Gag>Aag	p.E2136K	SPTAN1_ENST00000372739.3_Missense_Mutation_p.E2136K|SPTAN1_ENST00000372731.4_Missense_Mutation_p.E2131K			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2131					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGCTTTGCGCGAGGCCCACGA	0.577000													23	67					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153695621	153695621	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:153695621G>A	ENST00000369682.3	+	19	3423	c.3248G>A	c.(3247-3249)gGc>gAc	p.G1083D		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1083	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGGCCCCCGGCATCTTTCTT	0.637000													24	62					0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32379270	32379270	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr20:32379270G>A	ENST00000375200.1	+	15	2877	c.2512G>A	c.(2512-2514)Gag>Aag	p.E838K	RP4-553F4.6_ENST00000423074.1_RNA|ZNF341_ENST00000342427.2_Missense_Mutation_p.E831K|RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	838					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GGCTGGGGCCGAGGGCCCATG	0.662000													14	23					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25947159	25947159	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr15:25947159G>A	ENST00000356865.6	-	13	2775	c.2664C>T	c.(2662-2664)ctC>ctT	p.L888L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	888					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGTCACCAGTGAGAACCCAAA	0.527000													32	73					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80801407	80801407	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:80801407C>T	ENST00000466387.1	+	17	2585	c.1861C>T	c.(1861-1863)Cgg>Tgg	p.R621W	CTNNA2_ENST00000343114.3_Missense_Mutation_p.R300W|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R655W|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R621W|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R621W|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R621W|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R621W			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	621					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGATGGCGTTCGGGACATCAG	0.502000													25	86					0	0	1	0	0
POLRMT	5442	broad.mit.edu	37	19	623567	623567	+	Silent	SNP	A	A	G	rs150474137		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:623567A>G	ENST00000588649.2	-	6	1261	c.1177T>C	c.(1177-1179)Ttg>Ctg	p.L393L	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	393					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGTCTTCAAGGGCAGGTGC	0.642000													4	66					0	0	1	0	0
C16orf86	388284	broad.mit.edu	37	16	67702164	67702164	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr16:67702164C>T	ENST00000403458.4	+	4	770	c.615C>T	c.(613-615)aaC>aaT	p.N205N		NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN	chromosome 16 open reading frame 86	205										endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CTGAGCTGAACCAGGCAGGGA	0.662000											OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	16					0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123508442	123508442	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:123508442C>T	ENST00000223026.4	+	3	753	c.115C>T	c.(115-117)Cga>Tga	p.R39*	HYAL4_ENST00000476325.1_Nonsense_Mutation_p.R39*	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	39					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						AAAACCTGCTCGACTTCCAAT	0.323000													12	38					0	0	1	0	0
FAM199X	139231	broad.mit.edu	37	X	103411634	103411634	+	Silent	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:103411634C>G	ENST00000493442.1	+	1	334	c.168C>G	c.(166-168)acC>acG	p.T56T		NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	56										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						GCCATCGCACCGACCCGCTCC	0.672000													9	26					0	0	1	0	0
FBXW11	23291	broad.mit.edu	37	5	171295716	171295716	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr5:171295716C>T	ENST00000296933.6	-	12	1883	c.1513G>A	c.(1513-1515)Gat>Aat	p.D505N	FBXW11_ENST00000265094.5_Missense_Mutation_p.D518N|FBXW11_ENST00000393802.2_Missense_Mutation_p.D484N|FBXW11_ENST00000425623.2_Missense_Mutation_p.D486N	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	518					cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTTAAGAAATCCCAAATCAAA	0.438000													14	35					0	0	1	0	0
PDK3	5165	broad.mit.edu	37	X	24546214	24546214	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:24546214G>A	ENST00000441463.2	+	9	874	c.874G>A	c.(874-876)Gtc>Atc	p.V292I	PDK3_ENST00000379162.4_Missense_Mutation_p.V292I	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	292	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGGTGGTGGTGTCCCACTTCG	0.413000													10	46					0	0	1	0	0
ZNF281	23528	broad.mit.edu	37	1	200376778	200376778	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr1:200376778G>A	ENST00000294740.2	-	2	2180	c.2056C>T	c.(2056-2058)Ctt>Ttt	p.L686F	ZNF281_ENST00000367353.1_Missense_Mutation_p.L686F|ZNF281_ENST00000367352.3_Missense_Mutation_p.L650F	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	686					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						CCGTGTCCAAGAGTAAAACTT	0.398000													30	77					0	0	1	0	0
CTNND1	1500	broad.mit.edu	37	11	57564299	57564299	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:57564299G>A	ENST00000524630.1	+	6	1304	c.791G>A	c.(790-792)cGg>cAg	p.R264Q	CTNND1_ENST00000528232.1_Missense_Mutation_p.R163Q|CTNND1_ENST00000361796.4_Missense_Mutation_p.R264Q|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000428599.2_Missense_Mutation_p.R264Q|CTNND1_ENST00000532844.1_Missense_Mutation_p.R210Q|CTNND1_ENST00000529919.1_Missense_Mutation_p.R264Q|CTNND1_ENST00000399039.4_Missense_Mutation_p.R264Q|CTNND1_ENST00000532649.1_Missense_Mutation_p.R210Q|CTNND1_ENST00000526357.1_Missense_Mutation_p.R210Q|CTNND1_ENST00000426142.2_Missense_Mutation_p.R163Q|CTNND1_ENST00000530748.1_Missense_Mutation_p.R210Q|CTNND1_ENST00000529873.1_Missense_Mutation_p.R210Q|CTNND1_ENST00000532245.1_Missense_Mutation_p.R163Q|CTNND1_ENST00000415361.2_Missense_Mutation_p.R163Q|CTNND1_ENST00000529986.1_Missense_Mutation_p.R163Q|CTNND1_ENST00000534579.1_Missense_Mutation_p.R210Q|CTNND1_ENST00000532787.1_Missense_Mutation_p.R163Q|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000358694.6_Missense_Mutation_p.R264Q|CTNND1_ENST00000532463.1_Missense_Mutation_p.R163Q|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000360682.6_Missense_Mutation_p.R264Q|CTNND1_ENST00000529526.1_Missense_Mutation_p.R210Q|CTNND1_ENST00000361332.4_Missense_Mutation_p.R264Q|CTNND1_ENST00000528621.1_Missense_Mutation_p.R210Q|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000361391.6_Missense_Mutation_p.R264Q|CTNND1_ENST00000526938.1_Missense_Mutation_p.R264Q|CTNND1_ENST00000399050.4_Missense_Mutation_p.R264Q|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000530094.1_Missense_Mutation_p.R163Q			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	264					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CCCCAGGTTCGGGTAGGTGGG	0.577000													54	157					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104098378	104098378	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:104098378G>A	ENST00000388887.2	+	36	4090	c.3886G>A	c.(3886-3888)Gga>Aga	p.G1296R		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1296					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTGCCCATTCGGAACTAAATC	0.368000													4	23					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48319203	48319203	+	Silent	SNP	T	T	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:48319203T>C	ENST00000435803.1	+	18	8436	c.8412T>C	c.(8410-8412)agT>agC	p.S2804S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2804					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CACCTTTGAGTCAGAATATAA	0.328000													10	24					0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22729276	22729276	+	RNA	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr4:22729276C>T	ENST00000503442.1	+	0	149				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGAGTTATCTCAGGCACCCAC	0.408000													51	123					0	0	1	0	0
ZHX3	23051	broad.mit.edu	37	20	39831673	39831673	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr20:39831673C>T	ENST00000309060.3	-	4	2299	c.1884G>A	c.(1882-1884)gaG>gaA	p.E628E	ZHX3_ENST00000432768.2_Silent_p.E628E|ZHX3_ENST00000540170.1_Silent_p.E628E|ZHX3_ENST00000560361.1_Silent_p.E628E|ZHX3_ENST00000559234.1_Silent_p.E628E|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Silent_p.E628E			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	628					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CAAAACTGCTCTCCAGGGCTC	0.507000													36	77					0	0	1	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43630701	43630701	+	Translation_Start_Site	SNP	T	T	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr9:43630701T>G	ENST00000332857.6	-	1	29	c.1A>C	c.(1-3)Atg>Ctg	p.M1L		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		AGATTCTCCATGTGAATAGGC	0.537000													24	63					0	0	1	0	0
OR10H2	26538	broad.mit.edu	37	19	15839060	15839060	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:15839060C>T	ENST00000305899.3	+	1	227	c.207C>T	c.(205-207)tcC>tcT	p.S69S		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S69S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TCTCAGTCTCCGAGATCCTCT	0.627000													84	110					0	0	1	0	0
C2orf42	54980	broad.mit.edu	37	2	70408755	70408755	+	Silent	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:70408755C>G	ENST00000264434.2	-	3	742	c.363G>C	c.(361-363)ctG>ctC	p.L121L	C2orf42_ENST00000420306.1_Silent_p.L121L	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	121										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TGGCAGCTTTCAGGCATGAGG	0.572000													22	35					0	0	1	0	0
SPSB3	90864	broad.mit.edu	37	16	1828032	1828032	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr16:1828032C>T	ENST00000566339.1	-	5	840	c.510G>A	c.(508-510)acG>acA	p.T170T	SPSB3_ENST00000301717.4_Silent_p.T170T	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	170	B30.2/SPRY.				intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						CCACATCCGACGTCCCGATGC	0.667000													9	32					0	0	1	0	0
IMP3	55272	broad.mit.edu	37	15	75931969	75931969	+	Missense_Mutation	SNP	C	C	G	rs141574567		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr15:75931969C>G	ENST00000314852.2	-	2	1484	c.541G>C	c.(541-543)Gat>Cat	p.D181H	IMP3_ENST00000403490.1_Missense_Mutation_p.D181H			Q9NV31	IMP3_HUMAN	IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)	181					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding|rRNA binding			large_intestine(1)	1						GCTTCCAGATCGAAGTCATCG	0.527000													19	51					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146720268	146720268	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:146720268C>T	ENST00000392299.2	+	8	2563	c.2093C>T	c.(2092-2094)cCc>cTc	p.P698L	GRM1_ENST00000282753.1_Missense_Mutation_p.P698L|GRM1_ENST00000361719.2_Missense_Mutation_p.P698L|GRM1_ENST00000355289.4_Missense_Mutation_p.P698L|GRM1_ENST00000492807.2_Missense_Mutation_p.P698L|GRM1_ENST00000507907.1_Missense_Mutation_p.P698L			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	698					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ACCCGGAAGCCCAGGTTCATG	0.517000													38	107					0	0	1	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42408250	42408250	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:42408250G>T	ENST00000599846.1	+	22	2274	c.2149G>T	c.(2149-2151)Gac>Tac	p.D717Y	ARHGEF1_ENST00000337665.4_Missense_Mutation_p.D676Y|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.D628Y|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.D643Y|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.D661Y			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	661	PH.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GGTGACTAAGGACAAGGCAGT	0.647000													14	77					2.32078e-09	2.44157e-09	1	1	0
SNW1	22938	broad.mit.edu	37	14	78184661	78184661	+	Missense_Mutation	SNP	T	T	G	rs17825620	by1000genomes	TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr14:78184661T>G	ENST00000555761.1	-	13	1489	c.1461A>C	c.(1459-1461)aaA>aaC	p.K487N	SNW1_ENST00000554775.1_Intron|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000261531.7_Intron|SLIRP_ENST00000557623.1_Intron			Q13573	SNW1_HUMAN	SNW domain containing 1	0					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TATGAACTACTTTGCTTTCAC	0.438000													5	123					0	0	1	0	0
VPS37B	79720	broad.mit.edu	37	12	123380553	123380553	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:123380553G>A	ENST00000267202.2	-	1	438	c.57C>T	c.(55-57)aaC>aaT	p.N19N		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	19					cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		CCAGCAGCTCGTTGAGCTGCA	0.716000													23	66					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169145398	169145398	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr4:169145398T>C	ENST00000393743.3	-	35	5111	c.4820A>G	c.(4819-4821)aAc>aGc	p.N1607S		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1607							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ACTTACATGGTTTGGAGTTTC	0.373000													7	22					0	0	1	0	0
KIF5B	3799	broad.mit.edu	37	10	32321667	32321667	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr10:32321667C>T	ENST00000302418.4	-	13	1798	c.1341G>A	c.(1339-1341)gaG>gaA	p.E447E		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	447					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TCTTCAGTTTCTCTACCAGTT	0.383000			T	"""RET, ALK"""	NSCLC								10	32					0	0	1	0	0
CCDC110	256309	broad.mit.edu	37	4	186379847	186379847	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr4:186379847G>C	ENST00000307588.3	-	6	1969	c.1894C>G	c.(1894-1896)Caa>Gaa	p.Q632E	CCDC110_ENST00000510617.1_Missense_Mutation_p.Q632E|CCDC110_ENST00000393540.3_Missense_Mutation_p.Q595E	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	632						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TCTATTATTTGAAGAAGTGTC	0.328000													8	28					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76939596	76939596	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:76939596A>T	ENST00000373344.5	-	9	1366	c.1152T>A	c.(1150-1152)agT>agA	p.S384R	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S346R	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	384					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTGTAGCAGAACTGATTTCTG	0.358000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						58	165					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54685245	54685245	+	Splice_Site	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr15:54685245G>C	ENST00000545554.1	+	17	4713		c.e17-1		UNC13C_ENST00000537900.1_Splice_Site|UNC13C_ENST00000260323.11_Splice_Site			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)						exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTTGTGAGCAGAGTAAGAAAC	0.373000													11	41					0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122774693	122774693	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:122774693G>C	ENST00000227349.2	+	3	702	c.405G>C	c.(403-405)aaG>aaC	p.K135N	C11orf63_ENST00000531316.1_Missense_Mutation_p.K135N|C11orf63_ENST00000307257.6_Missense_Mutation_p.K135N	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	135										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GGAAGAGTAAGAAGGAGGAAG	0.507000													54	140					0	0	1	0	0
SH2D3A	10045	broad.mit.edu	37	19	6755042	6755042	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:6755042C>T	ENST00000245908.6	-	5	1050	c.781G>A	c.(781-783)Gag>Aag	p.E261K	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Missense_Mutation_p.E139K	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	261	Poly-Glu.				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						TCATCCTCCTCGGCCTCCCAC	0.622000													181	128					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13764668	13764668	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:13764668C>A	ENST00000279593.3	-	8	1980	c.1771G>T	c.(1771-1773)Gat>Tat	p.D591Y		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	591					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCTCTGCCATCAGCGAGGCAC	0.488000													32	46					1.39806e-14	1.48741e-14	1	1	0
PCNX	22990	broad.mit.edu	37	14	71511998	71511998	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr14:71511998G>A	ENST00000304743.2	+	20	4462	c.4016G>A	c.(4015-4017)cGa>cAa	p.R1339Q	PCNX_ENST00000439984.3_Missense_Mutation_p.R1228Q|PCNX_ENST00000238570.5_Missense_Mutation_p.R1339Q	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1339						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TATGAAGTTCGAAGTAAGTAT	0.343000													15	49					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123197011	123197011	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:123197011C>T	ENST00000371160.1	+	19	2067	c.1777C>T	c.(1777-1779)Cag>Tag	p.Q593*	STAG2_ENST00000218089.9_Nonsense_Mutation_p.Q593*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.Q593*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.Q593*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Nonsense_Mutation_p.Q593*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.Q524*			Q8N3U4	STAG2_HUMAN	stromal antigen 2	593					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GCAGTTGCCTCAGTACTTTGA	0.279000													4	15					0	0	1	0	0
GSG1L	146395	broad.mit.edu	37	16	27895933	27895933	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr16:27895933C>T	ENST00000447459.2	-	3	508	c.424G>A	c.(424-426)Gag>Aag	p.E142K	GSG1L_ENST00000395724.3_Intron|GSG1L_ENST00000380897.3_5'UTR|GSG1L_ENST00000380898.2_5'UTR	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	142						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						TACAGCACCTCGGAGACCACA	0.577000													3	6					0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125590567	125590567	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr4:125590567T>A	ENST00000504087.1	-	4	4902	c.3865A>T	c.(3865-3867)Agt>Tgt	p.S1289C	ANKRD50_ENST00000515641.1_Missense_Mutation_p.S1110C	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1289	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GAAGAATTACTTTGTTTCGCT	0.408000													46	103					0	0	1	0	0
HSPA12B	116835	broad.mit.edu	37	20	3726235	3726235	+	Silent	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr20:3726235C>T	ENST00000254963.2	+	6	694	c.549C>T	c.(547-549)caC>caT	p.H183H	HSPA12B_ENST00000542646.1_Silent_p.H17H	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	183							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						TCAGGGAGCACGCCCTTCAGG	0.632000													14	30					0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119020798	119020798	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:119020798G>A	ENST00000307417.3	+	2	487	c.123G>A	c.(121-123)gaG>gaA	p.E41E	ABCG4_ENST00000449422.2_Silent_p.E41E|ABCG4_ENST00000531739.1_Silent_p.E41E	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	41					cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AGAAGGTGGAGAACCACATCA	0.662000													16	45					0	0	1	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935758	151935758	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chrX:151935758C>A	ENST00000393902.3	-	3	976	c.409G>T	c.(409-411)Ggg>Tgg	p.G137W	MAGEA3_ENST00000370278.3_Missense_Mutation_p.G137W			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	137	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					ACGACACTCCCCAGCATTTCT	0.517000													57	160					4.88506e-25	5.27661e-25	1	1	0
IFNAR2	3455	broad.mit.edu	37	21	34617295	34617295	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr21:34617295G>A	ENST00000404220.3	+	4	466	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	IFNAR2_ENST00000342101.3_Missense_Mutation_p.R46Q|IFNAR2_ENST00000342136.4_Missense_Mutation_p.R46Q|IFNAR2_ENST00000420068.1_Intron|IFNAR2_ENST00000413881.1_5'UTR|IFNAR2_ENST00000382241.3_Missense_Mutation_p.R46Q|IFNAR2_ENST00000382264.3_Missense_Mutation_p.R46Q			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	46					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	ATATCATTGCGAAATTTCCGG	0.368000													15	54					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47592669	47592669	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr20:47592669C>T	ENST00000371917.4	+	14	1891	c.1891C>T	c.(1891-1893)Cag>Tag	p.Q631*		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	631					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GACAACTGTTCAGGATGACCC	0.517000													9	24					0	0	1	0	0
C6orf136	221545	broad.mit.edu	37	6	30618826	30618826	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:30618826A>G	ENST00000293604.6	+	3	1266	c.1073A>G	c.(1072-1074)gAa>gGa	p.E358G	C6orf136_ENST00000376471.4_Missense_Mutation_p.E43G|C6orf136_ENST00000376473.5_Missense_Mutation_p.E177G|C6orf136_ENST00000528347.2_Missense_Mutation_p.E34G	NM_001161376.1	NP_001154848.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	177										endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TTGGATGTGGAATTCATCAAT	0.468000													26	73					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56196374	56196374	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr18:56196374G>C	ENST00000361673.3	-	6	5663	c.5450C>G	c.(5449-5451)tCt>tGt	p.S1817C		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1817	Ig-like 2.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GCAGATAGTAGAATCTTCATG	0.388000													22	51					0	0	1	0	0
SOCS5	9655	broad.mit.edu	37	2	46987083	46987083	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr2:46987083C>T	ENST00000306503.5	+	2	1586	c.1414C>T	c.(1414-1416)Ctt>Ttt	p.L472F	SOCS5_ENST00000394861.2_Missense_Mutation_p.L472F	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	472	SH2.|SOCS box.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TGAACCATTGCTTACTATATC	0.443000													30	76					0	0	1	0	0
SNF8	11267	broad.mit.edu	37	17	47007863	47007863	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:47007863C>G	ENST00000502492.1	-	8	1133	c.751G>C	c.(751-753)Gag>Cag	p.E251Q	SNF8_ENST00000290330.3_Missense_Mutation_p.E250Q|SNF8_ENST00000514089.1_5'UTR			Q96H20	SNF8_HUMAN	SNF8, ESCRT-II complex subunit	251					cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytosol|late endosome membrane|transcription factor complex	transcription factor binding			breast(1)|endometrium(1)|lung(1)	3						CTGGCCTCCTCAGCTGTAATC	0.592000													3	25					0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9792818	9792818	+	Silent	SNP	C	C	T	rs139614327		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:9792818C>T	ENST00000262441.5	+	13	1971	c.1458C>T	c.(1456-1458)ggC>ggT	p.G486G	GLP2R_ENST00000574745.1_Silent_p.G306G	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	486					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	AAGGAGATGGCGCTGAGAAGC	0.607000													13	53					0	0	1	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42406036	42406036	+	Splice_Site	SNP	G	G	C			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:42406036G>C	ENST00000599846.1	+	16	1560		c.e16-1		ARHGEF1_ENST00000337665.4_Splice_Site|ARHGEF1_ENST00000347545.4_Splice_Site|ARHGEF1_ENST00000378152.4_Splice_Site|ARHGEF1_ENST00000354532.3_Splice_Site			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1						cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TGGCCCTGCAGAGCTGCTGGT	0.617000													7	24					0	0	1	0	0
POLK	51426	broad.mit.edu	37	5	74892767	74892767	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr5:74892767C>T	ENST00000241436.4	+	13	2421	c.2249C>T	c.(2248-2250)tCa>tTa	p.S750L	POLK_ENST00000504026.1_Intron|POLK_ENST00000508526.1_Missense_Mutation_p.S552L|POLK_ENST00000352007.5_Missense_Mutation_p.S552L|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000380481.3_Missense_Mutation_p.S660L	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	750					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TCTACTGTTTCATTGGAAAAC	0.373000								DNA polymerases (catalytic subunits)					12	38					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22362838	22362838	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:22362838A>T	ENST00000397121.2	-	3	1998	c.1681T>A	c.(1681-1683)Tac>Aac	p.Y561N		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCACATTTGTAGGGTTTCTCT	0.383000													12	28					0	0	1	0	0
SAMM50	25813	broad.mit.edu	37	22	44386275	44386275	+	Silent	SNP	G	G	A			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr22:44386275G>A	ENST00000350028.4	+	14	1510	c.1353G>A	c.(1351-1353)caG>caA	p.Q451Q	SAMM50_ENST00000396202.3_Silent_p.Q241Q	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	451					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TGGGAGTACAGACAGGCGACA	0.488000													19	65					0	0	1	0	0
TREH	11181	broad.mit.edu	37	11	118530540	118530540	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:118530540C>G	ENST00000529101.1	-	11	1281	c.1236G>C	c.(1234-1236)gaG>gaC	p.E412D	TREH_ENST00000525958.1_Missense_Mutation_p.E381D|TREH_ENST00000530256.1_Missense_Mutation_p.E289D|TREH_ENST00000264029.4_Missense_Mutation_p.E412D|TREH_ENST00000397925.1_Missense_Mutation_p.E381D			O43280	TREA_HUMAN	trehalase (brush-border membrane glycoprotein)	412					polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity			NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		ATGGGTAAAACTCCCGGTTTT	0.587000											OREG0021385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	1					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910589	29910590	+	Frame_Shift_Ins	INS	-	-	C	rs61759956		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:29910589_29910590insC	ENST00000396634.1	+	4	470_471	c.129_130insC	c.(127-132)gacccgfs	p.DP43fs	HLA-A_ENST00000376802.2_Frame_Shift_Ins_p.DP43fs|HLA-A_ENST00000376809.5_Frame_Shift_Ins_p.DP43fs|HLA-A_ENST00000376806.5_Frame_Shift_Ins_p.DP43fs			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	43	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.R41fs*31(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GCCGCGGGGAGCCCCGCTTCAT	0.698									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			11	21	---	---	---	---					
SOBP	55084	broad.mit.edu	37	6	107956280	107956282	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr6:107956280_107956282delGCC	ENST00000317357.5	+	6	2891_2893	c.2232_2234delGCC	c.(2230-2235)cag>ca	p.QP744del	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	744	Pro-rich.						metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CTCCCGAGCAgccgccgccgccg	0.749													2	4	---	---	---	---					
STAG3L2	442582	broad.mit.edu	37	7	74300557	74300564	+	RNA	DEL	AGAGCTCC	AGAGCTCC	-			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:74300557_74300564delAGAGCTCC	ENST00000423186.1	-	0	573_580							P0CL84	ST3L2_HUMAN								nucleus	binding	p.E82fs*32(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CGGCCAGTGAAGAGCTCCAGGCGTGCGG	0.572													6	7	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100345610	100345611	+	RNA	INS	-	-	AA	rs71686325		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr7:100345610_100345611insAA	ENST00000542585.1	+	0	1171				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			gcaagactctgaaaaaaaaaaa	0.505													3	3	---	---	---	---					
RGS20	8601	broad.mit.edu	37	8	54792096	54792097	+	Frame_Shift_Ins	INS	-	-	C	rs35570213		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr8:54792096_54792097insC	ENST00000297313.3	+	2	536_537	c.444_445insC	c.(442-447)agccccfs	p.SP148fs	RGS20_ENST00000344277.6_Intron	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	148					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			GTCCGCTGAGGCCCCCCCATCC	0.733													2	4	---	---	---	---					
FOSL1	8061	broad.mit.edu	37	11	65660543	65660543	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:65660543delA	ENST00000312562.2	-	4	816	c.630delT	c.(628-630)ctfs	p.L210fs	FOSL1_ENST00000532401.1_3'UTR|FOSL1_ENST00000448083.2_Frame_Shift_Del_p.L108fs|FOSL1_ENST00000531493.1_Frame_Shift_Del_p.L174fs	NM_005438.3	NP_005429.1	P15407	FOSL1_HUMAN	FOS-like antigen 1	210					cellular defense response|chemotaxis|positive regulation of cell proliferation|response to virus|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	10				READ - Rectum adenocarcinoma(159;0.168)		CCTCAGGTTCAAGCACAGGCC	0.627													11	34	---	---	---	---					
RIN1	9610	broad.mit.edu	37	11	66101086	66101086	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr11:66101086delG	ENST00000311320.4	-	8	1761	c.1635delC	c.(1633-1635)ctfs	p.L545fs	RIN1_ENST00000530056.1_Frame_Shift_Del_p.L379fs|RIN1_ENST00000424433.2_Frame_Shift_Del_p.L440fs	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	545	Ras and 14-3-3 protein binding region.|VPS9.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						GGGCCAAGACGAGGCTCAGCA	0.627													17	34	---	---	---	---					
PAN2	9924	broad.mit.edu	37	12	56716916	56716917	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr12:56716916_56716917delGA	ENST00000425394.2	-	17	2810_2811	c.2434_2435delTC	c.(2434-2436)cfs	p.S812fs	PAN2_ENST00000257931.5_Frame_Shift_Del_p.S811fs|PAN2_ENST00000548043.1_Frame_Shift_Del_p.S812fs|PAN2_ENST00000440411.3_Frame_Shift_Del_p.S808fs	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	812					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CATGCGAATGGAGAAAGGAAGC	0.480													27	99	---	---	---	---					
LRRC75A-AS1	125144	broad.mit.edu	37	17	16344167	16344167	+	RNA	DEL	A	A	-	rs10587316		TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr17:16344167delA	ENST00000475953.1	+	0	483				C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000487066.1_RNA	NR_027667.1																						actccatctcaaaaaaaaaaa	0.413													3	3	---	---	---	---					
SBNO2	22904	broad.mit.edu	37	19	1109414	1109420	+	Frame_Shift_Del	DEL	ACCGCGG	ACCGCGG	-			TCGA-HD-A4C1-01A-11D-A24D-08	TCGA-HD-A4C1-10A-02D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2557cce4-9c4e-4f5b-ac17-b1a1e76c262a	51035c87-3c5e-434b-9665-8efbd65c616f	g.chr19:1109414_1109420delACCGCGG	ENST00000361757.3	-	29	3456_3462	c.3219_3225delCCGCGGT	c.(3217-3225)gtfs	p.VRG1073fs	SBNO2_ENST00000587024.1_Frame_Shift_Del_p.VRG1063fs|SBNO2_ENST00000438103.2_Frame_Shift_Del_p.VRG1016fs	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	1073					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGCTTGTTACCGCGGACCTGCGGAG	0.715													6	1	---	---	---	---