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
KCNC4	3749	broad.mit.edu	37	1	110754401	110754403	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr1:110754401_110754403delTTC	uc009wfr.3	+	0	1066_1068	c.280_282delTTC	c.(280-282)ttcdel	p.F96del	KCNC4_uc001dzf.3_In_Frame_Del_p.F96del|KCNC4_uc001dzh.3_In_Frame_Del_p.F96del|KCNC4_uc001dzi.3_Non-coding_Transcript|KCNC4_uc001dzg.3_In_Frame_Del_p.F96del	NM_001039574	NP_001034663	Q03721	KCNC4_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 4 (KCNC4), transcript variant 3, mRNA.	96					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		gggctgcgAGTTCTTCTTCGACA	0.734												
TDRD10	126668	broad.mit.edu	37	1	154516509	154516509	+	Missense_Mutation	SNP	G	G	A	rs143192137	byFrequency	TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr1:154516509G>A	uc009wow.3	+	8	1412	c.574G>A	c.(574-576)Gtc>Atc	p.V192I	TDRD10_uc001ffd.3_Missense_Mutation_p.V192I|TDRD10_uc001ffe.3_Missense_Mutation_p.V113I	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	192							nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CATCCATAGCGTCCGTGGGGA	0.612												
CACNA1S	779	broad.mit.edu	37	1	201009210	201009210	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr1:201009210C>T	uc001gvv.3	-	44	5598	c.5371_splice	c.e44-1	p.A1791_splice		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1791					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CGAACCAGAGCCTGCAGGGAG	0.617												
EDARADD	128178	broad.mit.edu	37	1	236590728	236590728	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr1:236590728G>A	uc001hxu.1	+	3	262	c.197G>A	c.(196-198)cGa>cAa	p.R66Q	EDARADD_uc001hxv.1_Missense_Mutation_p.R56Q	NM_145861	NP_665860	Q8WWZ3	EDAD_HUMAN	Homo sapiens EDAR-associated death domain (EDARADD), transcript variant A, mRNA.	66					cell differentiation|signal transduction	cytoplasm		p.R66Q(2)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AACTGCCCACGAAATTCAGAT	0.289												
PTEN	5728	broad.mit.edu	37	10	89692841	89692841	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr10:89692841G>A	uc001kfb.3	+	4	1357	c.325G>A	c.(325-327)Gac>Aac	p.D109N	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	109	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.L108_D109del(4)|p.L108R(3)|p.Y27_N212>Y(2)|p.Y27fs*1(2)|p.D109fs*6(2)|p.F56fs*2(1)|p.L108P(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGAAGATCTTGACCAATGGCT	0.383		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
RPL13AP6	644511	broad.mit.edu	37	10	112696659	112696659	+	Silent	SNP	A	A	G			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr10:112696659A>G	uc010qrh.1	-	0	355	c.333T>C	c.(331-333)ccT>ccC	p.P111P	SHOC2_uc001kzl.4_Intron|SHOC2_uc009xxx.3_Intron|SHOC2_uc010qrg.2_Intron					Homo sapiens ribosomal protein L13a pseudogene 6 (RPL13AP6), non-coding RNA.									p.P111P(1)									TCTTGTCGTAAGGCGGTGGGA	0.577												
SCGB1C1	147199	broad.mit.edu	37	11	193135	193135	+	Silent	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr11:193135C>T	uc001loa.1	+	0	56	c.36C>T	c.(34-36)ctC>ctT	p.L12L		NM_145651	NP_663626	Q8TD33	SG1C1_HUMAN	Homo sapiens secretoglobin, family 1C, member 1 (SCGB1C1), mRNA.	12						extracellular region	binding			endometrium(1)|liver(2)|lung(1)|skin(1)	5		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGGTGGCCCTCACCCTGTTCT	0.612												
DCDC5	100506627	broad.mit.edu	37	11	31086167	31086167	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr11:31086167G>T	uc009yjk.1	-	7	853	c.784C>A	c.(784-786)Caa>Aaa	p.Q262K	DCDC5_uc009yjl.1_Missense_Mutation_p.Q190K|DCDC5_uc001msu.2_Missense_Mutation_p.Q433K	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	0					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						GCACTTTCTTGCAGAACCTAA	0.398												
CKAP5	9793	broad.mit.edu	37	11	46792527	46792527	+	Silent	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr11:46792527C>T	uc001ndi.2	-	24	3123	c.2997G>A	c.(2995-2997)ctG>ctA	p.L999L	CKAP5_uc009ylg.1_Silent_p.L885L|CKAP5_uc001ndj.2_Silent_p.L999L|CKAP5_uc001ndh.1_5'Flank	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	999					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	p.L999L(2)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CCAGCCAGCCCAGAAGCTGCC	0.428												
NOX4	50507	broad.mit.edu	37	11	89073317	89073317	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr11:89073317G>A	uc001pct.3	-	14	1599	c.1360C>T	c.(1360-1362)Ctt>Ttt	p.L454F	NOX4_uc009yvr.3_Missense_Mutation_p.L429F|NOX4_uc001pcu.3_Missense_Mutation_p.L380F|NOX4_uc001pcw.3_Missense_Mutation_p.L147F|NOX4_uc001pcx.3_Missense_Mutation_p.L107F|NOX4_uc001pcv.3_Missense_Mutation_p.L414F|NOX4_uc009yvo.3_Non-coding_Transcript|NOX4_uc010rtu.2_Missense_Mutation_p.L288F|NOX4_uc009yvp.3_Missense_Mutation_p.L218F|NOX4_uc010rtv.2_Missense_Mutation_p.L390F|NOX4_uc009yvq.3_Missense_Mutation_p.L430F	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	454	Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTCTTCTAAGCTTGTATGGT	0.323												
PPP2R1B	5519	broad.mit.edu	37	11	111613292	111613292	+	Missense_Mutation	SNP	T	T	C			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr11:111613292T>C	uc001plw.1	-	12	1736	c.1652A>G	c.(1651-1653)aAt>aGt	p.N551S	PPP2R1B_uc010rwi.1_Missense_Mutation_p.N487S|PPP2R1B_uc001plx.1_Missense_Mutation_p.N551S|PPP2R1B_uc010rwk.1_Missense_Mutation_p.N506S|PPP2R1B_uc010rwl.1_Missense_Mutation_p.N424S|PPP2R1B_uc010rwj.1_Missense_Mutation_p.N390S	NM_181699	NP_859050	P30154	2AAB_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, beta (PPP2R1B), transcript variant 2, mRNA.	551							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		TTTGGCCACATTGAAGCGAAC	0.368												
GALNT8	26290	broad.mit.edu	37	12	4854615	4854615	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr12:4854615G>A	uc001qne.1	+	4	973	c.881G>A	c.(880-882)cGg>cAg	p.R294Q		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	294	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R294Q(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						ATCTTGGCTCGGATTCAGGAG	0.478												
CD163	9332	broad.mit.edu	37	12	7639557	7639557	+	Silent	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr12:7639557C>T	uc001qsz.3	-	8	2204	c.2076G>A	c.(2074-2076)tcG>tcA	p.S692S	CD163_uc001qta.3_Silent_p.S692S|CD163_uc009zfw.2_Silent_p.S725S	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	692					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.S692*(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ATGAATTGCACGAGGACAGTG	0.438												
SRGAP1	57522	broad.mit.edu	37	12	64509616	64509616	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr12:64509616G>A	uc010ssp.1	+	17	2223	c.2167G>A	c.(2167-2169)Ggt>Agt	p.G723S	SRGAP1_uc001srv.2_Missense_Mutation_p.G660S	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	723					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CAGTGAGCACGGTACATTGGA	0.413												
ATP7B	540	broad.mit.edu	37	13	52516659	52516659	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr13:52516659G>A	uc001vfw.2	-	14	3432	c.3275C>T	c.(3274-3276)aCg>aTg	p.T1092M	ATP7B_uc001vfy.2_Missense_Mutation_p.T981M|ATP7B_uc010adv.2_Missense_Mutation_p.T662M|ATP7B_uc001vfx.2_Missense_Mutation_p.T885M|ATP7B_uc010tgt.1_Missense_Mutation_p.T1027M|ATP7B_uc010tgu.1_Missense_Mutation_p.T1044M|ATP7B_uc010tgv.1_Missense_Mutation_p.T1014M|ATP7B_uc001vfv.2_Missense_Mutation_p.T364M|ATP7B_uc010tgs.1_Missense_Mutation_p.T303M	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	1092					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CTGGAAGTCCGTGCAGTATCC	0.572									Wilson disease			
LMO7	4008	broad.mit.edu	37	13	76381854	76381854	+	Nonsense_Mutation	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr13:76381854C>T	uc021rkq.1	+	9	1770	c.1435C>T	c.(1435-1437)Cga>Tga	p.R479*	LMO7_uc010thv.2_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc001vjv.3_Nonsense_Mutation_p.R246*|LMO7_uc010thw.2_Intron|LMO7_uc001vjw.1_Nonsense_Mutation_p.R152*	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	531						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	p.R246R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ATATGTTCTCCGAGCTTTTGA	0.413												
SLITRK6	84189	broad.mit.edu	37	13	86370546	86370546	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr13:86370546G>C	uc001vll.1	-	1	557	c.98C>G	c.(97-99)tCt>tGt	p.S33C	SLITRK6_uc021rla.1_Missense_Mutation_p.S33C	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	33	LRRNT 1.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ATTGCAAAGAGAATCACAAGA	0.403												
SYT16	83851	broad.mit.edu	37	14	62550997	62550997	+	Silent	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr14:62550997G>A	uc001xfu.1	+	4	1715	c.1518G>A	c.(1516-1518)gcG>gcA	p.A506A	SYT16_uc010tse.1_Silent_p.A64A	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	506								p.A486A(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ATGGAGGGGCGCCAGAGCTGT	0.552												
AHNAK2	113146	broad.mit.edu	37	14	105409667	105409667	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr14:105409667C>T	uc010axc.1	-	6	12241	c.12121G>A	c.(12121-12123)Gtg>Atg	p.V4041M	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.V3941M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4041						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCTCGGGCACGGGGCCCTCT	0.627												
TEKT5	146279	broad.mit.edu	37	16	10788509	10788509	+	Silent	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr16:10788509C>T	uc002czz.1	-	0	294	c.222G>A	c.(220-222)ccG>ccA	p.P74P		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	74					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GGATGGTGGGCGGCCGCAGGG	0.642												
TMCO7	79613	broad.mit.edu	37	16	68893945	68893945	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr16:68893945C>A	uc002ewi.4	+	1	265	c.253C>A	c.(253-255)Caa>Aaa	p.Q85K	TMCO7_uc002ewh.3_Missense_Mutation_p.Q85K	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA.	85						integral to membrane	binding			endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|prostate(2)	20		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		AGAATGGCCACAAAACTCTGT	0.428												
PLCG2	5336	broad.mit.edu	37	16	81953214	81953214	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr16:81953214G>A	uc002fgt.3	+	19	2358	c.2180G>A	c.(2179-2181)cGa>cAa	p.R727Q	PLCG2_uc010chg.1_Missense_Mutation_p.R727Q	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	727	SH2 2.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TCACTCTACCGAAAGATGAGA	0.557												
NECAB2	54550	broad.mit.edu	37	16	84035467	84035467	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr16:84035467G>A	uc002fhd.3	+	11	1095	c.1078G>A	c.(1078-1080)Gtc>Atc	p.V360I	NECAB2_uc002fhe.3_Missense_Mutation_p.V277I	NM_019065	NP_061938	Q7Z6G3	NECA2_HUMAN	Homo sapiens N-terminal EF-hand calcium binding protein 2 (NECAB2), mRNA.	360	ABM.				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						GTTCCGGCACGTCAAGGTGGA	0.647												
KIAA1609	57707	broad.mit.edu	37	16	84529371	84529371	+	Missense_Mutation	SNP	C	C	T	rs146039021		TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr16:84529371C>T	uc002fib.3	-	2	409	c.302G>A	c.(301-303)gGa>gAa	p.G101E	KIAA1609_uc010vod.2_Missense_Mutation_p.G74E	NM_020947	NP_065998	Q6P9B6	K1609_HUMAN	Homo sapiens KIAA1609 (KIAA1609), mRNA.	101							protein binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(2)	18						CTCGGAGTTTCCTTTCAACAG	0.542												
GSG2	83903	broad.mit.edu	37	17	3628349	3628349	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr17:3628349C>T	uc002fwp.3	+	0	1153	c.1120C>T	c.(1120-1122)Cct>Tct	p.P374S	ITGAE_uc002fwo.4_Intron|ITGAE_uc002fwn.4_5'Flank	NM_031965	NP_114171	Q8TF76	HASP_HUMAN	Homo sapiens germ cell associated 2 (haspin) (GSG2), mRNA.	374					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										GGACCTGACTCCTTTACAGAA	0.478												
TP53	7157	broad.mit.edu	37	17	7579374	7579374	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr17:7579374C>G	uc002gim.2	-	3	507	c.313G>C	c.(313-315)Ggc>Cgc	p.G105R	TP53_uc002gig.1_Missense_Mutation_p.G105R|TP53_uc002gih.3_Missense_Mutation_p.G105R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Missense_Mutation_p.G105R|TP53_uc010cnh.1_Missense_Mutation_p.G105R|TP53_uc002gij.2_Missense_Mutation_p.G105R|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Missense_Mutation_p.G66R|TP53_uc010cnk.1_Missense_Mutation_p.G120R	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	105	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G105C(10)|p.Q104*(9)|p.0?(8)|p.G105R(4)|p.G105fs*18(4)|p.Q100fs*37(3)|p.G59fs*23(3)|p.G105S(2)|p.G105D(2)|p.Y103_G112>C(2)|p.Y103_L111>L(2)|p.G105_T125del21(2)|p.Q104fs*19(1)|p.W91fs*13(1)|p.V73fs*9(1)|p.G105V(1)|p.Y103_Q104>**(1)|p.S33fs*23(1)|p.G105G(1)|p.G105A(1)|p.P13fs*18(1)|p.Y103fs*15(1)|p.Q104H(1)|p.Q104L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCGTAGCTGCCCTGGTAGGTT	0.627		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
TOP3A	7156	broad.mit.edu	37	17	18210245	18210246	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr17:18210245_18210246delTC	uc002gsx.1	-	3	578_579	c.349_350delGA	c.(349-351)gaafs	p.E117fs	TOP3A_uc002gsw.1_5'UTR|TOP3A_uc010vxs.1_Frame_Shift_Del_p.E15fs|TOP3A_uc010cqa.1_Non-coding_Transcript	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	Homo sapiens topoisomerase (DNA) III alpha (TOP3A), mRNA.	117	Toprim.				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CTTTTCAATTTCTGCTTCAAAG	0.426												
NF1	4763	broad.mit.edu	37	17	29685497	29685497	+	Splice_Site	DEL	G	G	-			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr17:29685497delG	uc002hgg.3	+	55	8354	c.7971_splice	c.e55-1	p.V2657_splice	NF1_uc002hgh.3_Splice_Site_p.V2636_splice|NF1_uc010cso.3_Splice_Site_p.V845_splice|NF1_uc010wbt.1_Splice_Site_p.V135_splice|NF1_uc010wbu.1_Splice_Site	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2657					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTTCTTTTAGGCATAATTTG	0.333			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
HNF1B	6928	broad.mit.edu	37	17	36065013	36065013	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr17:36065013G>A	uc002hok.4	-	5	1471	c.1250C>T	c.(1249-1251)aCg>aTg	p.T417M	HNF1B_uc021tvu.1_Missense_Mutation_p.T187M|HNF1B_uc010wdi.2_Missense_Mutation_p.T391M|HNF1B_uc021tvv.1_Missense_Mutation_p.T417M|HNF1B_uc021tvw.1_Missense_Mutation_p.T391M	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	417					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GTGGATATTCGTCAAGGTGCT	0.478												
KRT23	25984	broad.mit.edu	37	17	39087633	39087633	+	Frame_Shift_Del	DEL	G	G	-			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr17:39087633delG	uc002hvm.1	-	2	1060	c.471delC	c.(469-471)ttcfs	p.F157fs	KRT23_uc010wfl.1_Frame_Shift_Del_p.F20fs|KRT23_uc010cxf.1_5'UTR|KRT23_uc010cxg.3_Frame_Shift_Del_p.F157fs|KRT23_uc002hvn.1_Frame_Shift_Del_p.F157fs	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	Homo sapiens keratin 23 (histone deacetylase inducible) (KRT23), mRNA.	157	Coil 1B.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				ACTTGAGGTTGAAGTCATCCA	0.438												
EPX	8288	broad.mit.edu	37	17	56280591	56280591	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr17:56280591G>A	uc002ivq.3	+	10	1977	c.1858G>A	c.(1858-1860)Gct>Act	p.A620T		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	620					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						TGGGGCCATCGCTGAGCCTCT	0.547												
SETBP1	26040	broad.mit.edu	37	18	42643234	42643234	+	Silent	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr18:42643234C>T	uc010dni.3	+	5	4658	c.4362C>T	c.(4360-4362)cgC>cgT	p.R1454R		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	1454						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGAAGAGGCGCGGGCGTCCCA	0.552									Schinzel-Giedion syndrome			
ST8SIA3	51046	broad.mit.edu	37	18	55024414	55024414	+	Silent	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr18:55024414C>T	uc002lgn.3	+	2	930	c.573C>T	c.(571-573)ttC>ttT	p.F191F		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	191					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.F191F(2)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GTTGCAATTTCGCCCCTACGG	0.403												
CNN2	1265	broad.mit.edu	37	19	1032680	1032680	+	Silent	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr19:1032680C>T	uc002lqu.3	+	3	738	c.375C>T	c.(373-375)ctC>ctT	p.L125L	CNN2_uc002lqt.1_Silent_p.L125L|CNN2_uc010drz.1_Intron|CNN2_uc002lqv.3_Silent_p.L125L|CNN2_uc010xgb.2_Intron|CNN2_uc010xgc.2_Silent_p.L125L	NM_004368	NP_004359	Q99439	CNN2_HUMAN	Homo sapiens calponin 2 (CNN2), transcript variant 1, mRNA.	125	CH.				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		tgtctcttctcgccctggcgg	0.587												
HMHA1	23526	broad.mit.edu	37	19	1080274	1080274	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr19:1080274G>A	uc002lqz.1	+	13	1955	c.1724G>A	c.(1723-1725)cGg>cAg	p.R575Q	HMHA1_uc010xgd.1_Missense_Mutation_p.R591Q|HMHA1_uc010xge.1_Missense_Mutation_p.R415Q|HMHA1_uc002lra.1_Missense_Mutation_p.R415Q|HMHA1_uc002lrb.1_Missense_Mutation_p.R458Q|HMHA1_uc002lrc.1_Missense_Mutation_p.R210Q	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	575					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		ATGCGTGCCCGGAAGAGCAGC	0.642												
TLE2	7089	broad.mit.edu	37	19	3005947	3005947	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr19:3005947C>T	uc010dth.3	-	15	1786	c.1523G>A	c.(1522-1524)cGt>cAt	p.R508H	TLE2_uc010xhb.2_Missense_Mutation_p.R174H|TLE2_uc002lww.3_Missense_Mutation_p.R507H|TLE2_uc010xhc.2_Missense_Mutation_p.R385H|TLE2_uc010dti.3_Missense_Mutation_p.R521H	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	507					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		CTTGCAGGAACGAATGTAGTT	0.632												
ZNF788	388507	broad.mit.edu	37	19	12222273	12222273	+	Translation_Start_Site	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr19:12222273C>T	uc002mtd.3	+	2										Homo sapiens zinc finger family member 788 (ZNF788), non-coding RNA.											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2						TATGGACAGACGCCATATAAA	0.428												
EMR3	84658	broad.mit.edu	37	19	14758015	14758015	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr19:14758015G>A	uc002mzi.4	-	7	1008	c.860C>T	c.(859-861)aCg>aTg	p.T287M	EMR3_uc010dzp.3_Missense_Mutation_p.T235M|EMR3_uc010xnv.2_Missense_Mutation_p.T161M	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	287					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GAAAGTCAGCGTCACAGACTT	0.483												
ZNF676	163223	broad.mit.edu	37	19	22364158	22364158	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr19:22364158C>T	uc002nqs.1	-	2	679	c.361G>A	c.(361-363)Gtc>Atc	p.V121I		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V121V(1)		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)				TTATGAAAGACGTTTGCATAT	0.333												
KIRREL2	84063	broad.mit.edu	37	19	36351505	36351505	+	Silent	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr19:36351505C>T	uc002ocb.4	+	6	1076	c.864C>T	c.(862-864)ccC>ccT	p.P288P	KIRREL2_uc002obz.4_Silent_p.P288P|KIRREL2_uc002oca.4_Silent_p.P238P|KIRREL2_uc002ocd.4_Silent_p.P285P	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	288	Ig-like C2-type 3.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGACTGAGCCCGTGTCCTGCG	0.662												
ZNF780B	163131	broad.mit.edu	37	19	40541725	40541725	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr19:40541725C>G	uc002omu.3	-	4	1106	c.1041G>C	c.(1039-1041)aaG>aaC	p.K347N	ZNF780B_uc002omv.3_Missense_Mutation_p.K199N	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	Homo sapiens zinc finger protein 780B (ZNF780B), mRNA.	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTCGAACAAGCTTTGTCAGAA	0.423												
NLRP7	199713	broad.mit.edu	37	19	55449589	55449589	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr19:55449589G>A	uc002qih.4	-	4	2028	c.1952C>T	c.(1951-1953)cCg>cTg	p.P651L	NLRP7_uc010esk.3_Missense_Mutation_p.P651L|NLRP7_uc002qig.4_Intron|NLRP7_uc002qii.4_Missense_Mutation_p.P651L|NLRP7_uc010esl.3_Missense_Mutation_p.P679L	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	651			P -> S (in HYDM).				ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGCCCAGTTCGGAATGGTTAG	0.493												
B3GNT2	10678	broad.mit.edu	37	2	62450208	62450208	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr2:62450208A>G	uc021vii.1	+	0	853	c.853A>G	c.(853-855)Aag>Gag	p.K285E	B3GNT2_uc002sbs.3_Missense_Mutation_p.K285E	NM_006577	NP_006568	Q9NY97	B3GN2_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 (B3GNT2), mRNA.	285						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			TCATCGGGATAAGAAGCTGAA	0.502												
PSD4	23550	broad.mit.edu	37	2	113950118	113950118	+	Missense_Mutation	SNP	G	G	A	rs140435814	byFrequency	TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr2:113950118G>A	uc002tjc.3	+	5	1973	c.1790G>A	c.(1789-1791)cGc>cAc	p.R597H	PSD4_uc002tjd.3_Missense_Mutation_p.R218H|PSD4_uc002tje.3_Missense_Mutation_p.R568H|PSD4_uc002tjf.3_Missense_Mutation_p.R218H	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	597	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGCCTCTATCGCCTGGAGGGC	0.597												
TTN	7273	broad.mit.edu	37	2	179474032	179474032	+	Silent	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr2:179474032G>A	uc021vsy.1	-	221	44526	c.44301C>T	c.(44299-44301)cgC>cgT	p.R14767R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.R8462R|TTN_uc021vta.1_Silent_p.R8395R|TTN_uc021vtb.1_Silent_p.R8270R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15694	Fibronectin type-III 6.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATCTCGGACGCGTAGCTGAG	0.458												
ASXL1	171023	broad.mit.edu	37	20	31022345	31022345	+	Silent	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr20:31022345C>T	uc021wbw.1	+	12	2262	c.1830C>T	c.(1828-1830)ggC>ggT	p.G610G	ASXL1_uc002wxs.3_Silent_p.G609G|ASXL1_uc010geb.3_Silent_p.G501G	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	610					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.G610G(2)|p.Q592fs*5(1)|p.(574_1542)fs*?(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GTTGGACTGGCGCCAGGACCC	0.632			"""F, N, Mis"""		"""MDS, CMML"""							
KRTAP10-10	353333	broad.mit.edu	37	21	46057496	46057496	+	Silent	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr21:46057496G>A	uc002zfq.3	+	0	224	c.162G>A	c.(160-162)caG>caA	p.Q54Q	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	Homo sapiens keratin associated protein 10-10 (KRTAP10-10), mRNA.	54	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CCTGCTGCCAGACGGCCTGTG	0.657												
COL18A1	80781	broad.mit.edu	37	21	46911174	46911174	+	Silent	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr21:46911174C>T	uc002zhi.3	+	20	2664	c.2643C>T	c.(2641-2643)ggC>ggT	p.G881G	COL18A1_uc002zhg.3_Silent_p.G701G	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	1116	Nonhelical region 3 (NC3).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGCAGCCGGGCCTCCCTGGCC	0.682												
COL6A2	1292	broad.mit.edu	37	21	47538549	47538549	+	Missense_Mutation	SNP	C	C	T	rs142880107		TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr21:47538549C>T	uc002zia.1	+	12	1220	c.1138C>T	c.(1138-1140)Cgc>Tgc	p.R380C	COL6A2_uc002zhz.1_Missense_Mutation_p.R380C|COL6A2_uc002zhy.1_Missense_Mutation_p.R380C	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	380	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCGCCCAGGACGCAGAGGGCC	0.682												
ZNF445	353274	broad.mit.edu	37	3	44488333	44488333	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr3:44488333G>C	uc003cnf.2	-	7	3178	c.2830C>G	c.(2830-2832)Cta>Gta	p.L944V	ZNF445_uc011azv.1_Missense_Mutation_p.L932V|ZNF445_uc011azw.1_Missense_Mutation_p.L944V	NM_181489	NP_852466	P59923	ZN445_HUMAN	Homo sapiens zinc finger protein 445 (ZNF445), mRNA.	944					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CTTGGTTTTAGCTTCTGTAAT	0.522												
DNAH1	25981	broad.mit.edu	37	3	52417479	52417479	+	Silent	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr3:52417479C>T	uc011bef.2	+	50	8280	c.8019C>T	c.(8017-8019)gaC>gaT	p.D2673D	DNAH1_uc003ddv.3_5'Flank	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2673	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATACTGCGGACGAGCAGGACC	0.557												
OR5K4	403278	broad.mit.edu	37	3	98072705	98072705	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr3:98072705G>T	uc011bgv.2	+	0	8	c.8G>T	c.(7-9)aGg>aTg	p.R3M		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						GGAATGGCTAGGGAAAATCAC	0.393												
LRRC31	79782	broad.mit.edu	37	3	169579511	169579511	+	Missense_Mutation	SNP	T	T	C			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr3:169579511T>C	uc003fgc.1	-	1	331	c.266A>G	c.(265-267)aAg>aGg	p.K89R	LRRC31_uc010hwp.1_Missense_Mutation_p.K89R	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA.	89										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			ATCTAGACACTTGTTGACAGC	0.428												
TLL1	7092	broad.mit.edu	37	4	166963247	166963247	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr4:166963247C>T	uc003irh.2	+	10	1977	c.1330C>T	c.(1330-1332)Cgt>Tgt	p.R444C	TLL1_uc011cjn.2_Missense_Mutation_p.R444C|TLL1_uc011cjo.2_Missense_Mutation_p.R268C	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	444	CUB 1.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R444C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GATTGAGTTTCGTAGCAGCAG	0.368												
SLC9A3	6550	broad.mit.edu	37	5	492029	492029	+	Silent	SNP	G	G	A	rs144657077		TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr5:492029G>A	uc003jbe.2	-	1	481	c.369C>T	c.(367-369)atC>atT	p.I123I	SLC9A3_uc011clx.1_Silent_p.I123I	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA.	123						cell surface|integral to membrane	sodium:hydrogen antiporter activity	p.I123fs*79(2)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CGTCCAGCACGATGGGGGGCA	0.652												
CMBL	134147	broad.mit.edu	37	5	10290849	10290849	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr5:10290849G>A	uc003jes.3	-	1	477	c.26C>T	c.(25-27)cCg>cTg	p.P9L		NM_138809	NP_620164	Q96DG6	CMBL_HUMAN	Homo sapiens carboxymethylenebutenolidase homolog (Pseudomonas) (CMBL), mRNA.	9						cytosol	hydrolase activity|protein binding			endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						AATGTCACACGGACAAGGATA	0.468												
PRDM9	56979	broad.mit.edu	37	5	23523456	23523456	+	Silent	SNP	C	C	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr5:23523456C>A	uc003jgo.3	+	8	1121	c.939C>A	c.(937-939)gcC>gcA	p.A313A		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	313	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AATCCTGGGCCAACTGGATGA	0.438										HNSCC(3;0.000094)		
HCN1	348980	broad.mit.edu	37	5	45262901	45262901	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr5:45262901A>G	uc003jok.3	-	7	1820	c.1795T>C	c.(1795-1797)Tca>Cca	p.S599P		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	599						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGAAGAATTGAATTTTTCTTT	0.413												
TRPC7	57113	broad.mit.edu	37	5	135692836	135692836	+	Silent	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr5:135692836G>A	uc003lbn.2	-	1	462	c.240C>T	c.(238-240)aaC>aaT	p.N80N	TRPC7_uc010jef.2_Silent_p.N71N|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Silent_p.N80N|TRPC7_uc010jei.2_Silent_p.N80N	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	80					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCTGCAGAGCGTTCTGCCCCA	0.607												
PPARGC1B	133522	broad.mit.edu	37	5	149212575	149212575	+	Silent	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr5:149212575C>T	uc003lrc.3	+	4	1030	c.939C>T	c.(937-939)ccC>ccT	p.P313P	PPARGC1B_uc003lrb.2_Silent_p.P313P|PPARGC1B_uc003lrd.3_Silent_p.P274P|PPARGC1B_uc021yfr.1_Silent_p.P249P|PPARGC1B_uc003lre.1_Silent_p.P292P|PPARGC1B_uc003lrf.3_Silent_p.P292P	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	313					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGCCACTCCCCAAGGCCTGCA	0.627												
FAT2	2196	broad.mit.edu	37	5	150901466	150901466	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr5:150901466G>A	uc003lue.4	-	17	10701	c.10688C>T	c.(10687-10689)aCg>aTg	p.T3563M	FAT2_uc003lud.4_Missense_Mutation_p.T256M	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3563	Cadherin 32.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATAGGTCAGCGTGTCCTGGGG	0.602												
F13A1	2162	broad.mit.edu	37	6	6267040	6267040	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr6:6267040G>A	uc003mwv.3	-	3	445	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	F13A1_uc011dib.2_Missense_Mutation_p.R45C	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	108					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TGTGGGTAGCGACCTATGAGA	0.448												
HIST1H2BA	255626	broad.mit.edu	37	6	25727485	25727485	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr6:25727485A>G	uc003nfd.3	+	0	349	c.349A>G	c.(349-351)Acc>Gcc	p.T117A	HIST1H2AA_uc003nfc.3_5'Flank	NM_170610	NP_733759	Q96A08	H2B1A_HUMAN	Homo sapiens histone cluster 1, H2ba (HIST1H2BA), mRNA.	117					nucleosome assembly	nucleosome|nucleus	DNA binding	p.T117_S125delTKAVTKYTS(1)		breast(1)|kidney(1)	2						GTCTGAGGGCACCAAGGCTGT	0.488												
SCAND3	114821	broad.mit.edu	37	6	28539828	28539828	+	Missense_Mutation	SNP	C	C	T	rs140560647		TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr6:28539828C>T	uc003nlo.3	-	3	4456	c.3838G>A	c.(3838-3840)Gga>Aga	p.G1280R		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	1280					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						gtagagaatccggtctcacag	0.353												
VARS	7407	broad.mit.edu	37	6	31749730	31749730	+	Splice_Site	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr6:31749730C>T	uc003nxe.3	-	19	2665	c.2242_splice	c.e19-1	p.D748_splice	VARS_uc021yuy.1_5'Flank|VARS_uc011doi.1_Splice_Site	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	748					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CATCAGGGTCCTGCCACAGGT	0.632												
C6orf165	154313	broad.mit.edu	37	6	88140868	88140868	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr6:88140868C>T	uc003plv.3	+	9	1400	c.1277C>T	c.(1276-1278)gCa>gTa	p.A426V	C6orf165_uc003plu.2_Missense_Mutation_p.A426V|C6orf165_uc003plw.3_Missense_Mutation_p.A238V|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	426										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		ACGTTTGCTGCAACAGATGGT	0.378												
USP45	85015	broad.mit.edu	37	6	99930669	99930669	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr6:99930669G>A	uc003ppx.2	-	7	1338	c.805C>T	c.(805-807)Cca>Tca	p.P269S	USP45_uc003ppw.2_Intron|USP45_uc010kcq.2_Missense_Mutation_p.P269S|USP45_uc003pqa.3_Missense_Mutation_p.P269S	NM_001080481	NP_001073950	Q70EL2	UBP45_HUMAN	Homo sapiens ubiquitin specific peptidase 45 (USP45), mRNA.	269					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		GGAGAAAGTGGTCCTTTTTCA	0.378												
PTPRK	5796	broad.mit.edu	37	6	128304041	128304041	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr6:128304041C>T	uc003qbk.3	-	23	3836	c.3469G>A	c.(3469-3471)Gca>Aca	p.A1157T	PTPRK_uc010kfc.3_Missense_Mutation_p.A1164T|PTPRK_uc003qbj.3_Missense_Mutation_p.A1158T|PTPRK_uc011ebu.2_Missense_Mutation_p.A1180T	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1157					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TCAAAATATGCAGCTTTAAAT	0.338												
TAAR5	9038	broad.mit.edu	37	6	132910519	132910519	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr6:132910519C>T	uc003qdk.2	-	0	359	c.307G>A	c.(307-309)Ggg>Agg	p.G103R		NM_003967	NP_003958	O14804	TAAR5_HUMAN	Homo sapiens trace amine associated receptor 5 (TAAR5), mRNA.	103					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		AGGAAGTCCCCGAAGAACCAG	0.582												
DNAH11	8701	broad.mit.edu	37	7	21640705	21640705	+	Silent	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr7:21640705G>A	uc003svc.3	+	16	3364	c.3333G>A	c.(3331-3333)gtG>gtA	p.V1111V		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1111	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						GGTTCAAGGTGGACATGAAGC	0.353									Kartagener syndrome			
GPNMB	10457	broad.mit.edu	37	7	23286464	23286464	+	Translation_Start_Site	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr7:23286464G>A	uc003swc.3	+	0					GPNMB_uc003swa.2_5'UTR|GPNMB_uc003swb.3_5'UTR|GPNMB_uc011jyy.2_5'UTR|GPNMB_uc011jyz.2_5'UTR	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	Homo sapiens glycoprotein (transmembrane) nmb (GPNMB), transcript variant 1, mRNA.						negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			GCCTGCGTCCGTGAGAATTCA	0.488												
AVL9	23080	broad.mit.edu	37	7	32620473	32620473	+	Missense_Mutation	SNP	G	G	C	rs150772071	byFrequency	TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr7:32620473G>C	uc003tcv.1	+	14	1948	c.1802G>C	c.(1801-1803)cGg>cCg	p.R601P	AVL9_uc011kai.2_Intron|AVL9_uc010kwj.1_Missense_Mutation_p.G385R	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN	Homo sapiens AVL9 homolog (S. cerevisiase) (AVL9), mRNA.	601						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						ACAACTAGCCGGAATGTTGTA	0.353												
EGFR	1956	broad.mit.edu	37	7	55210077	55210077	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr7:55210077G>A	uc003tqk.3	+	1	433	c.187G>A	c.(187-189)Ggg>Agg	p.G63R	EGFR_uc003tqh.3_Missense_Mutation_p.G63R|EGFR_uc003tqi.3_Missense_Mutation_p.G63R|EGFR_uc003tqj.3_Missense_Mutation_p.G63R|EGFR_uc022adm.1_Missense_Mutation_p.G63R|EGFR_uc010kzg.2_Missense_Mutation_p.G63R|EGFR_uc022adn.1_Missense_Mutation_p.G63R|EGFR_uc011kco.2_Missense_Mutation_p.G10R	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	63					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.G63R(2)|p.L62R(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GGTGGTCCTTGGGAATTTGGA	0.398		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
GRM8	2918	broad.mit.edu	37	7	126173853	126173853	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr7:126173853G>A	uc003vlr.2	-	7	1894	c.1583C>T	c.(1582-1584)aCg>aTg	p.T528M	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.T528M|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	528					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.K527K(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CCCTTTCACCGTTTTCTTCCT	0.542										HNSCC(24;0.065)		
TAS2R41	259287	broad.mit.edu	37	7	143175209	143175209	+	Nonsense_Mutation	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr7:143175209C>T	uc003wdc.1	+	0	244	c.244C>T	c.(244-246)Cga>Tga	p.R82*	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	82					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					GGGTCTCGGCCGACAGTTCTT	0.542												
ZNF862	643641	broad.mit.edu	37	7	149557807	149557807	+	Nonsense_Mutation	SNP	G	G	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr7:149557807G>T	uc010lpn.3	+	6	1750	c.1558G>T	c.(1558-1560)Gaa>Taa	p.E520*		NM_001099220	NP_001092690	O60290	ZN862_HUMAN	Homo sapiens zinc finger protein 862 (ZNF862), mRNA.	520					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						AAAATACCATGAAGTCAGCAA	0.488												
SFTPC	6440	broad.mit.edu	37	8	22020147	22020147	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr8:22020147C>T	uc003xaw.4	+	4	953	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	SFTPC_uc003xax.4_Missense_Mutation_p.R35C|SFTPC_uc003xay.4_Missense_Mutation_p.R35C|SFTPC_uc003xaz.3_Missense_Mutation_p.R35C|SFTPC_uc011kza.1_Missense_Mutation_p.R35C|SFTPC_uc022asz.1_5'Flank|BMP1_uc011kzb.2_5'Flank|BMP1_uc003xbf.3_5'Flank|BMP1_uc003xbb.3_5'Flank|BMP1_uc003xbc.3_5'Flank|BMP1_uc003xbd.3_5'Flank|BMP1_uc003xbe.3_5'Flank|BMP1_uc011kzc.2_5'Flank|BMP1_uc003xbg.3_5'Flank|BMP1_uc003xbh.3_5'Flank|BMP1_uc003xbi.3_5'Flank	NM_001172357	NP_001165828	P11686	PSPC_HUMAN	Homo sapiens surfactant protein C (SFTPC), transcript variant 3, mRNA.	35					respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GCACCTGAAACGCCTTCTTAT	0.602												
ADAM28	10863	broad.mit.edu	37	8	24199174	24199174	+	Silent	SNP	G	G	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr8:24199174G>T	uc003xdy.3	+	15	1817	c.1734G>T	c.(1732-1734)cgG>cgT	p.R578R	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.R265R	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	578	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.R578R(2)|p.R578L(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GGAAAGGACGGATAGTGACTT	0.423												
HOOK3	84376	broad.mit.edu	37	8	42841865	42841866	+	Frame_Shift_Ins	INS	-	-	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr8:42841865_42841866insA	uc003xpr.3	+	14	1701_1702	c.1459_1460insA	c.(1459-1461)gaafs	p.E487fs	HOOK3_uc010lxq.1_Frame_Shift_Ins_p.E487fs	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	Homo sapiens hook homolog 3 (Drosophila) (HOOK3), mRNA.	487					cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			TTCGGACAATGAAAAAATAGCC	0.361			T	RET	papillary thyroid							
UBE2W	55284	broad.mit.edu	37	8	74722708	74722709	+	Splice_Site	DNP	CC	CC	AA			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr8:74722708_74722709CC>AA	uc003xzv.3	-	4	419	c.366_splice	c.e4+1	p.K122_splice	UBE2W_uc003xzt.2_Splice_Site_p.K122_splice|UBE2W_uc003xzu.3_Splice_Site_p.K133_splice|UBE2W_uc003xzw.3_Splice_Site	NM_018299	NP_060769	Q96B02	UBE2W_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2W (putative) (UBE2W), transcript variant 2, mRNA.	122					protein K11-linked ubiquitination|protein monoubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity			kidney(1)|lung(1)	2	Breast(64;0.0311)		Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)			AAAAGTCTTACCTTTTCCTTGC	0.332												
SLC26A7	115111	broad.mit.edu	37	8	92407320	92407320	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr8:92407320G>A	uc003yex.3	+	19	2244	c.1966G>A	c.(1966-1968)Gtc>Atc	p.V656I	SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Missense_Mutation_p.V656I	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 1, mRNA.	656	Membrane targeting.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CCACAGTGAAGTCTGAGACCC	0.393												
TG	7038	broad.mit.edu	37	8	133880390	133880390	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr8:133880390C>T	uc003ytw.3	+	1	139	c.98C>T	c.(97-99)cCc>cTc	p.P33L		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	33	Thyroglobulin type-1 1.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCCCTTCGTCCCTGTGAGCTG	0.552												
CYC1	1537	broad.mit.edu	37	8	145151572	145151572	+	Missense_Mutation	SNP	T	T	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr8:145151572T>A	uc003zaz.4	+	4	740	c.697T>A	c.(697-699)Ttc>Atc	p.F233I	CYC1_uc003zay.3_Missense_Mutation_p.F174I	NM_001916	NP_001907	P08574	CY1_HUMAN	Homo sapiens cytochrome c-1 (CYC1), nuclear gene encoding mitochondrial protein, mRNA.	233					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-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;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGTCTCTACTTCAACCCCTA	0.582												
APBA1	320	broad.mit.edu	37	9	72131360	72131360	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr9:72131360G>A	uc004ahh.2	-	1	1043	c.767C>T	c.(766-768)gCg>gTg	p.A256V		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	256	Munc-18-1 binding.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		p.A256T(2)|p.F255F(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CGGGTAGGGCGCGAACTCGGC	0.682												
DENND1A	57706	broad.mit.edu	37	9	126219637	126219637	+	Silent	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr9:126219637G>A	uc011lzm.1	-	12	1294	c.1080C>T	c.(1078-1080)ggC>ggT	p.G360G	DENND1A_uc011lzl.1_Silent_p.G167G|DENND1A_uc004bny.1_Intron|DENND1A_uc004bnz.1_Silent_p.G392G|DENND1A_uc004boa.1_Silent_p.G392G|DENND1A_uc004bob.1_Silent_p.G362G|DENND1A_uc004boc.3_Silent_p.G360G	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA.	392	dDENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CAGCGTACTCGCCCATGTTGA	0.438												
ARSD	414	broad.mit.edu	37	X	2840042	2840042	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chrX:2840042G>C	uc004cqy.3	-	2	318	c.218C>G	c.(217-219)gCa>gGa	p.A73G	ARSD_uc004crb.4_Missense_Mutation_p.A73G	NM_001669	NP_001660	P51689	ARSD_HUMAN	Homo sapiens arylsulfatase D (ARSD), mRNA.	73						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)				ACCTTCCTCTGCAAGCTGGTC	0.547												
PPEF1	5475	broad.mit.edu	37	X	18845405	18845405	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chrX:18845405G>A	uc004cyq.3	+	18	2243	c.1762G>A	c.(1762-1764)Gtg>Atg	p.V588M	PPEF1_uc004cyp.3_Missense_Mutation_p.V560M|PPEF1_uc004cyr.3_Missense_Mutation_p.V526M|PPEF1_uc004cys.3_Missense_Mutation_p.V588M|PPEF1_uc011mja.2_Missense_Mutation_p.V523M|PPEF1_uc011mjb.2_Missense_Mutation_p.V532M	NM_006240	NP_006231	O14829	PPE1_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA.	588	EF-hand 2.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					CCTGATCTCCGTGGAAGAATT	0.418												
CCDC22	28952	broad.mit.edu	37	X	49093699	49093699	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chrX:49093699G>A	uc004dnd.2	+	1	367	c.197G>A	c.(196-198)cGc>cAc	p.R66H	CCDC22_uc011mna.2_Missense_Mutation_p.R66H	NM_014008	NP_054727	O60826	CCD22_HUMAN	Homo sapiens coiled-coil domain containing 22 (CCDC22), mRNA.	66										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						GCCCGGTTCCGCCTGGCCATG	0.587												
GPR174	84636	broad.mit.edu	37	X	78427086	78427086	+	Missense_Mutation	SNP	T	T	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chrX:78427086T>A	uc004edg.1	+	0	618	c.582T>A	c.(580-582)ttT>ttA	p.F194L		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.	194						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						TGATTGGGTTTGTAACTCCGC	0.453										HNSCC(63;0.18)		
SYTL4	94121	broad.mit.edu	37	X	99956599	99956599	+	Missense_Mutation	SNP	G	G	A	rs151147513		TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chrX:99956599G>A	uc004egd.4	-	4	537	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	SYTL4_uc010nnc.3_Missense_Mutation_p.R61W|SYTL4_uc004ege.4_Missense_Mutation_p.R61W|SYTL4_uc004egf.4_Missense_Mutation_p.R61W|SYTL4_uc004egg.4_Missense_Mutation_p.R61W	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	61	RabBD.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCACAGGTCCGATCACTGTAG	0.537												
ZCCHC12	170261	broad.mit.edu	37	X	117959260	117959260	+	Missense_Mutation	SNP	T	T	G			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chrX:117959260T>G	uc004equ.3	+	3	526	c.53T>G	c.(52-54)tTg>tGg	p.L18W	ZCCHC12_uc022cdh.1_Missense_Mutation_p.L18W	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	Homo sapiens zinc finger, CCHC domain containing 12 (ZCCHC12), mRNA.	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						AATGCACCCTTGCCGCCTTGG	0.537												
KIAA1210	57481	broad.mit.edu	37	X	118250604	118250604	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chrX:118250604C>A	uc004era.4	-	3	505	c.505G>T	c.(505-507)Gcc>Tcc	p.A169S		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	169										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CTCTTAAGGGCTTTAAATTTG	0.398												
GPR112	139378	broad.mit.edu	37	X	135455198	135455198	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chrX:135455198C>A	uc004ezu.1	+	14	8042	c.7751C>A	c.(7750-7752)tCc>tAc	p.S2584Y	GPR112_uc010nsb.1_Missense_Mutation_p.S2379Y	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2584					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.H2583D(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGCATTCACTCCTATGAAGAA	0.537