Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ARHGEF37	389337	broad.mit.edu	37	5	149003603	149003603	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:149003603C>T	ENST00000333677.6	+	10	1527	c.1364C>T	c.(1363-1365)gCc>gTc	p.A455V		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	455	BAR.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						CCAGAGCCTGCCTTCAGGAAG	0.582000													11	37					0	0	0.000673444	0	0
GPR83	10888	broad.mit.edu	37	11	94113452	94113452	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:94113452G>A	ENST00000243673.2	-	4	1306	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	GPR83_ENST00000539203.2_Missense_Mutation_p.P337S	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	379						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTGAAGGAAGGAACTGGGGAG	0.562000													14	40					0	0	0.00244969	0	0
ATG7	10533	broad.mit.edu	37	3	11356956	11356956	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:11356956C>G	ENST00000354449.3	+	7	692	c.667C>G	c.(667-669)Caa>Gaa	p.Q223E	ATG7_ENST00000354956.5_Missense_Mutation_p.Q223E|ATG7_ENST00000446450.2_Missense_Mutation_p.Q184E	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	223					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						CTTCCAAGGTCAAAGGACGAA	0.343000													4	12					0	0	0.00024832	0	0
NPSR1	387129	broad.mit.edu	37	7	34851420	34851420	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:34851420C>T	ENST00000360581.1	+	4	551	c.423C>T	c.(421-423)tcC>tcT	p.S141S	NPSR1_ENST00000359791.1_Silent_p.S141S|NPSR1_ENST00000381539.3_Silent_p.S141S|NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000531252.1_Silent_p.S130S	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	141						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TCCTGGTGTCCCTCAGCATAG	0.488000													77	77					0	0	0.00361006	0	0
BAZ2B	29994	broad.mit.edu	37	2	160240122	160240122	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:160240122G>A	ENST00000392783.2	-	24	4251	c.3756C>T	c.(3754-3756)ctC>ctT	p.L1252L	BAZ2B_ENST00000343439.5_Silent_p.L1152L|BAZ2B_ENST00000392782.1_Silent_p.L1216L|BAZ2B_ENST00000355831.2_Silent_p.L1218L	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTTACTTGCGGAGTTTACCTT	0.303000													12	19					0	0	0.00185496	0	0
SNCAIP	9627	broad.mit.edu	37	5	121739528	121739528	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:121739528G>A	ENST00000261367.7	+	5	1667	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	SNCAIP_ENST00000414317.2_Missense_Mutation_p.E24K|SNCAIP_ENST00000542191.1_5'UTR|SNCAIP_ENST00000503116.2_Missense_Mutation_p.R80Q|SNCAIP_ENST00000379533.2_Missense_Mutation_p.R80Q|SNCAIP_ENST00000504884.2_Missense_Mutation_p.R33Q|SNCAIP_ENST00000261368.8_Missense_Mutation_p.R33Q|SNCAIP_ENST00000379536.2_Missense_Mutation_p.R33Q|SNCAIP_ENST00000379538.3_Missense_Mutation_p.E18K			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	33					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GAACTGTGCCGAAGATGTGAT	0.453000													46	44					0	0	0.00361006	0	0
ZIC1	7545	broad.mit.edu	37	3	147128015	147128015	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:147128015C>T	ENST00000282928.4	+	1	845	c.116C>T	c.(115-117)cCg>cTg	p.P39L		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	39					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GGCATCAACCCGTTCGCCGAC	0.711000													15	6					0	0	0.00074312	0	0
COL19A1	1310	broad.mit.edu	37	6	70647963	70647963	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:70647963C>T	ENST00000322773.4	+	9	1009	c.907C>T	c.(907-909)Cct>Tct	p.P303S		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	303	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCCGGGTTCACCTGGGCAGAA	0.393000													21	7					0	0	0.00395357	0	0
MYPN	84665	broad.mit.edu	37	10	69934200	69934200	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr10:69934200C>T	ENST00000358913.5	+	11	2839	c.2351C>T	c.(2350-2352)cCa>cTa	p.P784L	MYPN_ENST00000540630.1_Missense_Mutation_p.P784L|MYPN_ENST00000354393.2_Missense_Mutation_p.P509L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	784	Pro-rich.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CAAAATGAGCCACTCCCACCA	0.522000													25	8					0	0	0.00332997	0	0
DPRX	503834	broad.mit.edu	37	19	54135376	54135376	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:54135376G>A	ENST00000376650.1	+	1	67	c.16G>A	c.(16-18)Gat>Aat	p.D6N		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	6						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		AGGCTCAGAGGATCTTCGTAA	0.507000													35	62					0	0	0.00148497	0	0
CSMD1	64478	broad.mit.edu	37	8	3166002	3166002	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:3166002C>T	ENST00000520002.1	-	25	4213	c.3658G>A	c.(3658-3660)Gat>Aat	p.D1220N	CSMD1_ENST00000537824.1_Missense_Mutation_p.D1219N|CSMD1_ENST00000542608.1_Missense_Mutation_p.D1219N|CSMD1_ENST00000602557.1_Missense_Mutation_p.D1220N|CSMD1_ENST00000602723.1_Missense_Mutation_p.D1220N|CSMD1_ENST00000539096.1_Missense_Mutation_p.D1219N|CSMD1_ENST00000400186.3_Missense_Mutation_p.D1220N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1220	Sushi 7.					integral to membrane		p.D948H(1)|p.D1219H(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATGCCCGGATCCTCACATTTT	0.478000													5	4					0	0	0.000602214	0	0
PSMD9	5715	broad.mit.edu	37	12	122353785	122353785	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:122353785C>T	ENST00000544724.1	+	3	2701	c.312C>T	c.(310-312)atC>atT	p.I104I	PSMD9_ENST00000261817.2_Silent_p.I192I|RP11-87C12.2_ENST00000544911.1_3'UTR|RP11-87C12.2_ENST00000542602.1_Silent_p.I88I|PSMD9_ENST00000541212.1_Silent_p.I193I			O00233	PSMD9_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 9	193					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of insulin secretion|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of insulin secretion|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	nucleus|proteasome regulatory particle	bHLH transcription factor binding|transcription coactivator activity			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		TGACAGTGATCCGCAGGGGGG	0.478000													8	19					0	0	0.000274275	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20495366	20495366	+	RNA	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:20495366G>A	ENST00000555186.1	+	0	569					NR_038836.1																						TCCCTCACAGGATGAAGACAT	0.418000													8	245					0	0	0.000274275	0	0
CAP1	10487	broad.mit.edu	37	1	40529910	40529910	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:40529910C>T	ENST00000372797.3	+	5	867	c.306C>T	c.(304-306)tcC>tcT	p.S102S	CAP1_ENST00000372798.1_Silent_p.S101S|CAP1_ENST00000372802.1_Silent_p.S101S|CAP1_ENST00000372805.3_Silent_p.S102S|CAP1_ENST00000372792.2_Silent_p.S102S|CAP1_ENST00000340450.3_Silent_p.S101S	NM_001105530.1|NM_006367.3	NP_001099000.1|NP_006358.1	Q01518	CAP1_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	102					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATAAGCTTTCCGATTTGTTGG	0.428000													24	20					0	0	0.00395357	0	0
ZNF671	79891	broad.mit.edu	37	19	58232711	58232711	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:58232711C>T	ENST00000317398.6	-	4	838	c.743G>A	c.(742-744)aGa>aAa	p.R248K	ZNF671_ENST00000335820.3_Missense_Mutation_p.R150K|AC003006.7_ENST00000599221.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGAAAAGTCTCTCCTACCTTT	0.517000													20	28					0	0	0.00121646	0	0
FAM135B	51059	broad.mit.edu	37	8	139190821	139190821	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:139190821G>A	ENST00000395297.1	-	10	1156	c.986C>T	c.(985-987)tCc>tTc	p.S329F		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	329										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGTCACTTGGGAGTGCAGAGT	0.527000										HNSCC(54;0.14)			16	22					0	0	0.000566183	0	0
SAMD9	54809	broad.mit.edu	37	7	92730949	92730949	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:92730949T>A	ENST00000379958.2	-	3	4731	c.4462A>T	c.(4462-4464)Aga>Tga	p.R1488*		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1488						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTTCCAGTCTTTTACCTTTT	0.373000													39	8					0	0	0.000953801	0	0
SUPT20H	55578	broad.mit.edu	37	13	37619411	37619411	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr13:37619411G>A	ENST00000360252.4	-	6	515	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L	SUPT20H_ENST00000356185.3_Silent_p.L90L|SUPT20H_ENST00000464744.1_Silent_p.L90L|SUPT20H_ENST00000470359.2_5'UTR|SUPT20H_ENST00000350612.6_Silent_p.L89L|SUPT20H_ENST00000475892.1_Silent_p.L89L|SUPT20H_ENST00000542180.1_Silent_p.L77L	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1			suppressor of Ty 20 homolog (S. cerevisiae)																		CTGAGCATCAGAGAATATCCC	0.398000													36	5					0	0	0.000953801	0	0
ADD2	119	broad.mit.edu	37	2	70904955	70904955	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:70904955C>T	ENST00000264436.3	-	12	1882	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	ADD2_ENST00000413157.2_Missense_Mutation_p.E480K|ADD2_ENST00000407644.2_Missense_Mutation_p.E480K|ADD2_ENST00000430656.1_Missense_Mutation_p.E496K|ADD2_ENST00000355733.3_Missense_Mutation_p.E480K	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	480					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TTTGGGTTTTCGATGCGAATC	0.517000													14	27					0	0	0.00244969	0	0
GPR156	165829	broad.mit.edu	37	3	119962559	119962559	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:119962559C>T	ENST00000464295.1	-	3	606	c.161G>A	c.(160-162)tGg>tAg	p.W54*	GPR156_ENST00000315843.3_Nonsense_Mutation_p.W54*|GPR156_ENST00000461057.1_Nonsense_Mutation_p.W54*			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	54						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GAGAAAAGTCCAAACAATACC	0.438000													16	31					0	0	0.00400662	0	0
POU2AF1	5450	broad.mit.edu	37	11	111225161	111225161	+	Missense_Mutation	SNP	G	G	A	rs145220444	byFrequency	TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:111225161G>A	ENST00000393067.3	-	5	1110	c.596C>T	c.(595-597)gCc>gTc	p.A199V		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	199					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		CCCAGGTAGGGCTGGGGCCGG	0.637000			T	BCL6	NHL								23	15					0	0	0.00278032	0	0
GPR39	2863	broad.mit.edu	37	2	133175434	133175434	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:133175434G>A	ENST00000329321.3	+	1	1288	c.819G>A	c.(817-819)gaG>gaA	p.E273E		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	273						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGAGCGAAGAGAGCAGGACCG	0.622000													31	44					0	0	0.00375469	0	0
CDH7	1005	broad.mit.edu	37	18	63477152	63477152	+	Silent	SNP	C	C	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr18:63477152C>A	ENST00000536984.2	+	3	1117	c.423C>A	c.(421-423)atC>atA	p.I141I	CDH7_ENST00000397968.2_Silent_p.I141I|CDH7_ENST00000323011.3_Silent_p.I141I			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	141	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AGTTTGTCATCAAAATTCAGG	0.512000													42	34					2.95478e-19	8.33399e-19	0.00195071	1	0
XIRP2	129446	broad.mit.edu	37	2	168103547	168103547	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:168103547G>A	ENST00000409195.1	+	9	5734	c.5645G>A	c.(5644-5646)tGg>tAg	p.W1882*	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.W1882*|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.W1660*|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1707					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGCCATCGATGGAAAGAATCT	0.368000													21	34					0	0	0.00332997	0	0
FMNL2	114793	broad.mit.edu	37	2	153485004	153485004	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:153485004C>T	ENST00000288670.9	+	18	2724	c.2357C>T	c.(2356-2358)gCc>gTc	p.A786V	FMNL2_ENST00000475377.2_Missense_Mutation_p.A161V	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	786	FH2.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						ACCATCATGGCCTTCATTGGG	0.473000													45	62					0	0	0.00321405	0	0
CIB4	130106	broad.mit.edu	37	2	26864149	26864149	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:26864149C>T	ENST00000288861.4	-	1	87	c.34G>A	c.(34-36)Gag>Aag	p.E12K		NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	12							calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCAGGTCCTCCCAGTGCATC	0.557000													65	128					0	0	0.00361006	0	0
SERPINB3	6317	broad.mit.edu	37	18	61328066	61328066	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr18:61328066C>T	ENST00000283752.5	-	3	333	c.190G>A	c.(190-192)Gag>Aag	p.E64K	SERPINB3_ENST00000332821.8_Missense_Mutation_p.E64K|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	64					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GTGGTGTTCTCTGTGACTTGA	0.438000													9	23					0	0	0.000442599	0	0
TPST1	8460	broad.mit.edu	37	7	65706180	65706180	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:65706180C>T	ENST00000304842.5	+	2	1193	c.768C>T	c.(766-768)ttC>ttT	p.F256F	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	256					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TCTTAAAGTTCCTCCAGATTC	0.413000													34	23					0	0	0.00283554	0	0
GMDS	2762	broad.mit.edu	37	6	2116044	2116044	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:2116044G>A	ENST00000380815.4	-	4	575	c.306C>T	c.(304-306)ccC>ccT	p.P102P	GMDS_ENST00000530927.1_Silent_p.P72P	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	102					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		AGATCTCTGTGGGCTTTACTT	0.428000													105	71					0	0	0.00361006	0	0
NLRP4	147945	broad.mit.edu	37	19	56368990	56368990	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:56368990G>A	ENST00000587891.1	+	1	180	c.6G>A	c.(4-6)caG>caA	p.Q2Q	NLRP4_ENST00000346986.5_Intron|NLRP4_ENST00000301295.6_Intron			Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	0	DAPIN.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AATATATGCAGGAATGCTTAA	0.448000													11	12					0	0	0.000673444	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8651601	8651601	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:8651601C>T	ENST00000270328.4	-	19	2510	c.2244G>A	c.(2242-2244)ctG>ctA	p.L748L	ADAMTS10_ENST00000595838.1_Silent_p.L235L|ADAMTS10_ENST00000597188.1_Silent_p.L748L			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	748	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GGTCTCCCTTCAGGGCTGGGG	0.642000											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	54					0	0	0.00188189	0	0
VPS16	64601	broad.mit.edu	37	20	2843445	2843445	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr20:2843445C>T	ENST00000380443.3	+	1	343	c.254C>T	c.(253-255)tCt>tTt	p.S85F	VPS16_ENST00000481812.2_Intron|VPS16_ENST00000380469.3_Intron|VPS16_ENST00000380445.3_Intron			Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	401					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CCCTCTGGCTCTTCTCAGGCC	0.632000													57	13					0	0	0.00361006	0	0
GK2	2712	broad.mit.edu	37	4	80328097	80328097	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr4:80328097G>A	ENST00000358842.3	-	1	1275	c.1258C>T	c.(1258-1260)Cgt>Tgt	p.R420C		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	420					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	p.R420C(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TGCAAATGACGAAGTGGAATT	0.393000													43	14					0	0	0.00321405	0	0
ALKBH6	84964	broad.mit.edu	37	19	36505121	36505121	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:36505121C>T	ENST00000378875.3	-	1	20	c.15G>A	c.(13-15)ggG>ggA	p.G5G	ALKBH6_ENST00000495116.2_5'UTR|ALKBH6_ENST00000486389.1_5'UTR|ALKBH6_ENST00000252984.7_5'UTR|ALKBH6_ENST00000485128.1_5'UTR|AC002116.8_ENST00000473572.2_RNA	NM_032878.3|NM_198867.1	NP_116267.3|NP_942567.1	Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 (E. coli)	0						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACATCCCCATCCCCCTCCCAG	0.597000													18	19					0	0	0.00121646	0	0
RBM46	166863	broad.mit.edu	37	4	155719361	155719361	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr4:155719361C>T	ENST00000510397.1	+	3	729	c.550C>T	c.(550-552)Cgt>Tgt	p.R184C	RBM46_ENST00000281722.3_Missense_Mutation_p.R184C|RBM46_ENST00000514866.1_Missense_Mutation_p.R184C	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	184	RRM 2.						nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				GACCAAAAATCGTGGTTTTGC	0.348000													16	7					0	0	0.000958276	0	0
DNAH10	196385	broad.mit.edu	37	12	124352591	124352591	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:124352591G>A	ENST00000409039.3	+	42	7115	c.7090G>A	c.(7090-7092)Gaa>Aaa	p.E2364K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2364					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAATTTGACGAATATATCAA	0.507000													12	16					0	0	0.00136819	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	by1000genomes	TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr13:25161397C>G	ENST00000453498.1	+	0	921																											TGAAACATCTCTACAACTGGA	0.343000													4	37					0	0	0.00116845	0	0
TMEM82	388595	broad.mit.edu	37	1	16073477	16073477	+	Silent	SNP	C	C	T	rs138798462		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:16073477C>T	ENST00000375782.1	+	5	1011	c.873C>T	c.(871-873)atC>atT	p.I291I	RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	291	Leu-rich.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTGGGCATCCTTGTCTCCC	0.672000													10	21					0	0	0.000673444	0	0
LMX1B	4010	broad.mit.edu	37	9	129453154	129453154	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:129453154C>T	ENST00000355497.5	+	3	373	c.366C>T	c.(364-366)atC>atT	p.I122I	LMX1B_ENST00000373474.4_Silent_p.I122I|LMX1B_ENST00000425646.2_Silent_p.I99I|LMX1B_ENST00000526117.1_Silent_p.I122I|LMX1B_ENST00000561065.1_Silent_p.I99I	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	99	LIM zinc-binding 2.				dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						TGGAGAAGATCGCCCCCACCG	0.647000									Nail-Patella Syndrome				5	6					0	0	0.00198382	0	0
HECW1	23072	broad.mit.edu	37	7	43508655	43508655	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:43508655G>A	ENST00000395891.1	+	16	3655	c.3050G>A	c.(3049-3051)cGg>cAg	p.R1017Q	HECW1_ENST00000453890.1_Missense_Mutation_p.R983Q	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1017					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCAGACACTCGGCTGGAACTG	0.552000													36	54					0	0	0.00170553	0	0
ITGB4	3691	broad.mit.edu	37	17	73725384	73725384	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:73725384C>T	ENST00000200181.3	+	7	792	c.605C>T	c.(604-606)tCc>tTc	p.S202F	ITGB4_ENST00000339591.3_Missense_Mutation_p.S202F|ITGB4_ENST00000450894.3_Missense_Mutation_p.S202F|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Missense_Mutation_p.S202F|ITGB4_ENST00000579662.1_Missense_Mutation_p.S202F	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	202	VWFA.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCCCCTTCTCCTTCAAGAAC	0.612000													16	27					0	0	0.00074312	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159776749	159776749	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:159776749G>A	ENST00000393975.3	-	3	422	c.419C>T	c.(418-420)cCa>cTa	p.P140L		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	95	Collagen-like.					collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTTGCCCTTTGGTCCTGGCTT	0.672000													17	25					0	0	0.000566183	0	0
DBF4	10926	broad.mit.edu	37	7	87516699	87516699	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:87516699T>G	ENST00000265728.1	+	5	1010	c.506T>G	c.(505-507)aTt>aGt	p.I169S		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	169	BRCT 2.				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				GGAGTAAAAATTCTTCATATT	0.279000													7	16					0	0	0.00307968	0	0
HSD3B1	3283	broad.mit.edu	37	1	120050223	120050223	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:120050223G>A	ENST00000235547.6	+	2	269	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	HSD3B1_ENST00000369413.3_Missense_Mutation_p.E42K|HSD3B1_ENST00000528909.1_Missense_Mutation_p.E42K	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	42					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	CTTCGGACCAGAATTGAGAGA	0.507000													93	45					0	0	0.00361006	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71509440	71509440	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:71509440G>A	ENST00000265382.3	+	8	962	c.657G>A	c.(655-657)gaG>gaA	p.E219E	PIP5K1B_ENST00000541509.1_Silent_p.E219E	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	219	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AAGAGAGAGAGAAATCCAACC	0.423000													25	40					0	0	0.00332997	0	0
FBF1	85302	broad.mit.edu	37	17	73914148	73914148	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:73914148G>A	ENST00000586717.1	-	21	2481	c.2208C>T	c.(2206-2208)tcC>tcT	p.S736S	FBF1_ENST00000319129.5_Silent_p.S735S|FBF1_ENST00000389570.4_Silent_p.S736S			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	735										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TGCTATTCAGGGACCTGGAAG	0.652000													10	33					0	0	0.000978159	0	0
TRIM11	81559	broad.mit.edu	37	1	228588737	228588737	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:228588737C>T	ENST00000493030.2	-	2	3997	c.288G>A	c.(286-288)caG>caA	p.Q96Q	TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000284551.6_Silent_p.Q221Q|TRIM11_ENST00000366699.3_Silent_p.Q221Q			Q96F44	TRI11_HUMAN	tripartite motif containing 11	221					response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				GGTGGGCGCTCTGCTGGCCTA	0.711000													7	6					0	0	0.00198382	0	0
FLNC	2318	broad.mit.edu	37	7	128494538	128494538	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:128494538G>C	ENST00000325888.8	+	41	7060	c.6799G>C	c.(6799-6801)Gtc>Ctc	p.V2267L	FLNC_ENST00000346177.6_Missense_Mutation_p.V2234L|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2267					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGCAGAGATCGTCGAGGGCGA	0.647000													7	38					0	0	0.00198382	0	0
YLPM1	56252	broad.mit.edu	37	14	75266262	75266262	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr14:75266262C>T	ENST00000325680.7	+	5	4386	c.4262C>T	c.(4261-4263)cCc>cTc	p.P1421L	YLPM1_ENST00000238571.3_Missense_Mutation_p.P1226L|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GAACATATGCCCTCCTCACAT	0.498000													54	25					0	0	0.00361006	0	0
COL6A3	1293	broad.mit.edu	37	2	238242171	238242171	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:238242171G>A	ENST00000295550.4	-	42	9702	c.9250C>T	c.(9250-9252)Cca>Tca	p.P3084S	COL6A3_ENST00000409809.1_Missense_Mutation_p.P2878S|COL6A3_ENST00000472056.1_Missense_Mutation_p.P2477S|COL6A3_ENST00000353578.4_Missense_Mutation_p.P2878S|COL6A3_ENST00000346358.4_Missense_Mutation_p.P2884S|COL6A3_ENST00000347401.3_Missense_Mutation_p.P2883S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	3084	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCTGGCTGTGGAGGTGGGGGC	0.428000													24	35					0	0	0.000720815	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215448	140215448	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:140215448C>G	ENST00000525929.1	+	1	1480	c.1480C>G	c.(1480-1482)Ctg>Gtg	p.L494V	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.L494V|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCTACTCGCTGGTGGAGCT	0.667000													37	25					0	0	0.00428921	0	0
ZAN	7455	broad.mit.edu	37	7	100349808	100349808	+	RNA	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:100349808G>A	ENST00000542585.1	+	0	2228				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CATCCCCACGGAAAAACCCAC	0.537000													24	5					0	0	0.00332997	0	0
POLQ	10721	broad.mit.edu	37	3	121208413	121208413	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:121208413C>A	ENST00000264233.5	-	16	3493	c.3365G>T	c.(3364-3366)tGt>tTt	p.C1122F		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1122					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GTTCCATGAACAATTTTGCTT	0.333000								DNA polymerases (catalytic subunits)					6	38					2.7689e-08	7.66235e-08	0.00198382	1	0
LRP1B	53353	broad.mit.edu	37	2	141806669	141806669	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:141806669G>A	ENST00000389484.3	-	11	2646	c.1675C>T	c.(1675-1677)Cgt>Tgt	p.R559C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	559					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTAAAGCACGAGGGTTTACC	0.433000										TSP Lung(27;0.18)			33	82					0	0	0.00148497	0	0
PAXIP1	22976	broad.mit.edu	37	7	154785460	154785460	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:154785460G>A	ENST00000404141.1	-	3	390	c.236C>T	c.(235-237)tCc>tTc	p.S79F	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.S79F			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	79	BRCT 1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		ACACTGAACGGACAGAATCAC	0.363000													21	4					0	0	0.00278032	0	0
SLIT1	6585	broad.mit.edu	37	10	98799763	98799763	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr10:98799763G>A	ENST00000266058.4	-	21	2524	c.2279C>T	c.(2278-2280)cCc>cTc	p.P760L	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.P760L	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	760	LRRNT 4.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GACATTCTTGGGAATGCCCTT	0.657000													14	9					0	0	0.00316338	0	0
LCE1B	353132	broad.mit.edu	37	1	152785193	152785193	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:152785193C>T	ENST00000360090.3	+	1	747	c.271C>T	c.(271-273)Cag>Tag	p.Q91*		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	91	Gly-rich.				keratinization					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCACAGACCCCAGAGCTCTGG	0.672000													38	12					0	0	0.00111076	0	0
OR4M2	390538	broad.mit.edu	37	15	22368991	22368991	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:22368991G>C	ENST00000332663.2	+	1	514	c.416G>C	c.(415-417)cGt>cCt	p.R139P	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATGAATCAACGTCTCTGCTGT	0.517000													58	432					0	0	0.00361006	0	0
ZNF211	10520	broad.mit.edu	37	19	58152816	58152816	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:58152816C>T	ENST00000544273.1	+	5	1325	c.998C>T	c.(997-999)tCg>tTg	p.S333L	ZNF211_ENST00000391703.3_Missense_Mutation_p.S260L|ZNF211_ENST00000240731.4_Missense_Mutation_p.S334L|ZNF211_ENST00000299871.5_Missense_Mutation_p.S386L|ZNF211_ENST00000254182.7_Missense_Mutation_p.S312L|ZNF211_ENST00000347302.3_Missense_Mutation_p.S321L|ZNF211_ENST00000541801.1_Missense_Mutation_p.S312L|ZNF211_ENST00000420680.1_Missense_Mutation_p.S325L			Q13398	ZN211_HUMAN	zinc finger protein 211	321						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTGGGAAATCGTTTAGTCAG	0.413000													27	23					0	0	0.000878237	0	0
MARK4	57787	broad.mit.edu	37	19	45768122	45768122	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:45768122C>T	ENST00000300843.4	+	6	743	c.446C>T	c.(445-447)tCg>tTg	p.S149L	MARK4_ENST00000262891.4_Missense_Mutation_p.S149L	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	149	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TACCTCGTGTCGCATGGCCGC	0.677000													39	46					0	0	0.00170553	0	0
PLCB4	5332	broad.mit.edu	37	20	9319685	9319685	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr20:9319685G>A	ENST00000378501.2	+	4	384		c.e4+1		PLCB4_ENST00000378493.1_Splice_Site|PLCB4_ENST00000492632.1_Splice_Site|PLCB4_ENST00000278655.4_Splice_Site|PLCB4_ENST00000414679.2_Splice_Site|PLCB4_ENST00000334005.3_Splice_Site|PLCB4_ENST00000378473.3_Splice_Site	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4						intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AGTAACTAAGGTAGCTTCAGT	0.373000													14	6					0	0	0.00316338	0	0
ECSCR	641700	broad.mit.edu	37	5	138837169	138837169	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:138837169C>G	ENST00000515823.1	-	4	250	c.178G>C	c.(178-180)Gct>Cct	p.A60P		NM_001077693.2	NP_001071161.1	Q19T08	ECSCR_HUMAN	endothelial cell surface expressed chemotaxis and apoptosis regulator	60					angiogenesis|cell differentiation|chemotaxis	integral to membrane|plasma membrane											GGCCTGTTAGCCTCTGAGGAA	0.562000													6	76					0	0	0.00198382	0	0
TOPBP1	11073	broad.mit.edu	37	3	133347301	133347301	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:133347301C>G	ENST00000260810.5	-	16	2840	c.2709G>C	c.(2707-2709)aaG>aaC	p.K903N		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	903	BRCT 6.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TGTGAAGTGGCTTTGGGGCTT	0.368000								Other conserved DNA damage response genes					11	3					0	0	0.000978159	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443851	5443851	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:5443851G>A	ENST00000300778.4	+	1	511	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCACCAATGAAGTCATTGG	0.507000													46	113					0	0	0.00361006	0	0
ABCC1	4363	broad.mit.edu	37	16	16225750	16225750	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr16:16225750C>T	ENST00000399408.2	+	28	4129	c.3954C>T	c.(3952-3954)ttC>ttT	p.F1318F	ABCC1_ENST00000399410.3_Silent_p.F1308F|ABCC1_ENST00000345148.5_Silent_p.F1308F|ABCC1_ENST00000346370.5_Silent_p.F1252F|ABCC1_ENST00000351154.5_Silent_p.F1249F|ABCC1_ENST00000349029.5_Silent_p.F1193F			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1308	ABC transporter 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	ACCTGGACTTCGTTCTCAGGC	0.607000													13	3					0	0	0.00136819	0	0
PCDH9	5101	broad.mit.edu	37	13	67801278	67801278	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr13:67801278G>A	ENST00000544246.1	-	2	1986	c.1295C>T	c.(1294-1296)aCc>aTc	p.T432I	PCDH9_ENST00000377865.2_Missense_Mutation_p.T432I|PCDH9_ENST00000377861.3_Missense_Mutation_p.T432I|PCDH9_ENST00000456367.1_Missense_Mutation_p.T432I|PCDH9_ENST00000328454.5_Missense_Mutation_p.T432I	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	432	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T432N(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GAATTCTTTGGTGCCCTCATA	0.403000													47	11					0	0	0.00361006	0	0
KIAA0430	9665	broad.mit.edu	37	16	15703478	15703478	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr16:15703478G>A	ENST00000396368.3	-	20	4062	c.3856C>T	c.(3856-3858)Cct>Tct	p.P1286S	KIAA0430_ENST00000540441.2_Missense_Mutation_p.P1121S|KIAA0430_ENST00000344181.3_Missense_Mutation_p.P888S|CTB-193M12.1_ENST00000549756.1_RNA|KIAA0430_ENST00000551742.1_Missense_Mutation_p.P1286S|KIAA0430_ENST00000548025.1_Missense_Mutation_p.P1283S|KIAA0430_ENST00000602337.1_Missense_Mutation_p.P1283S	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1285						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGGTAAGAAGGGATAAATTTA	0.423000													27	8					0	0	0.000720815	0	0
LPAL2	80350	broad.mit.edu	37	6	160898196	160898196	+	RNA	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:160898196G>A	ENST00000335388.5	-	0	1469					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		TCTGATGCCGGTGTGGTGTCA	0.473000													22	11					0	0	0.0024448	0	0
CLSTN2	64084	broad.mit.edu	37	3	140123433	140123433	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:140123433C>T	ENST00000458420.3	+	4	652	c.462C>T	c.(460-462)aaC>aaT	p.N154N		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	154	Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AGGATGTCAACGAGTTTGCTC	0.532000										HNSCC(16;0.037)			23	6					0	0	0.00332997	0	0
ATXN2L	11273	broad.mit.edu	37	16	28847568	28847568	+	Silent	SNP	G	G	T	rs139903328		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr16:28847568G>T	ENST00000336783.4	+	22	3377	c.3210G>T	c.(3208-3210)cgG>cgT	p.R1070R	ATXN2L_ENST00000395547.2_Intron|ATXN2L_ENST00000382686.4_Intron|ATXN2L_ENST00000340394.8_Intron|ATXN2L_ENST00000325215.6_Intron|ATXN2L_ENST00000564304.1_Intron|ATXN2L_ENST00000570200.1_Intron|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	1070						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AGGATGCACGGGTTCTGGGTG	0.612000													34	15					3.6622e-26	1.03959e-25	0.00375469	1	0
ARMC9	80210	broad.mit.edu	37	2	232196543	232196543	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:232196543C>T	ENST00000349938.4	+	20	2006	c.1812C>T	c.(1810-1812)gaC>gaT	p.D604D	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	604							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TGGACAAAGACGAACTGATCC	0.562000													13	13					0	0	0.00185496	0	0
SCN5A	6331	broad.mit.edu	37	3	38639243	38639243	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:38639243C>T	ENST00000413689.1	-	14	2432	c.2239G>A	c.(2239-2241)Gag>Aag	p.E747K	SCN5A_ENST00000425664.1_Missense_Mutation_p.E747K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E747K|SCN5A_ENST00000414099.2_Missense_Mutation_p.E747K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E747K|SCN5A_ENST00000451551.2_Missense_Mutation_p.E747K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E747K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E747K|SCN5A_ENST00000449557.2_Missense_Mutation_p.E747K|SCN5A_ENST00000333535.4_Missense_Mutation_p.E747K	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	747					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGCAGCATCTCCTCGAATTCA	0.557000													16	18					0	0	0.00074312	0	0
CALCA	796	broad.mit.edu	37	11	14992717	14992717	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:14992717G>A	ENST00000361010.3	-	2	96	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S	CALCA_ENST00000359642.3_Missense_Mutation_p.P8S|CALCA_ENST00000486207.1_Missense_Mutation_p.P8S|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000331587.4_Missense_Mutation_p.P8S|CALCA_ENST00000396372.2_Missense_Mutation_p.P8S	NM_001033953.2	NP_001029125.1	P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	8					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	GCCAGGAAGGGGGAGAACTTT	0.547000													21	25					0	0	0.00188189	0	0
TTN	7273	broad.mit.edu	37	2	179476382	179476382	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:179476382G>T	ENST00000589042.1	-	269	50798	c.50574C>A	c.(50572-50574)gaC>gaA	p.D16858E	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D15217E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D7918E|TTN_ENST00000342992.6_Missense_Mutation_p.D14290E|TTN_ENST00000460472.2_Missense_Mutation_p.D7793E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D7985E|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15217	Fibronectin type-III 22.						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)			TCACATGTAGGTCAAGGGGTG	0.418000													15	75					0.000308642	0.000839582	0.00316338	1	0
SMARCC1	6599	broad.mit.edu	37	3	47718184	47718184	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:47718184G>A	ENST00000254480.5	-	17	1779	c.1660C>T	c.(1660-1662)Cct>Tct	p.P554S	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	554					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TTAAAATGAGGAGTAGGAGGA	0.448000													7	24					0	0	0.00307968	0	0
GSPT2	23708	broad.mit.edu	37	X	51486787	51486787	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chrX:51486787C>T	ENST00000340438.4	+	1	307	c.65C>T	c.(64-66)tCc>tTc	p.S22F		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	22					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					GACATGGAATCCCCGGGGTCG	0.672000													24	11					0	0	0.00395357	0	0
ADAM19	8728	broad.mit.edu	37	5	156915343	156915343	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:156915343C>T	ENST00000257527.4	-	21	2558	c.2480G>A	c.(2479-2481)aGg>aAg	p.R827K	ADAM19_ENST00000430702.2_Missense_Mutation_p.R560K|ADAM19_ENST00000517905.1_Missense_Mutation_p.R827K|ADAM19_ENST00000394020.1_Missense_Mutation_p.R829K	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	827					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGACTCCGTCCTCTCTATTTG	0.607000													26	58					0	0	0.00332997	0	0
ITGA7	3679	broad.mit.edu	37	12	56092222	56092222	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:56092222G>A	ENST00000257880.7	-	8	1488	c.1269C>T	c.(1267-1269)tcC>tcT	p.S423S	ITGA7_ENST00000553804.1_Silent_p.S383S|ITGA7_ENST00000452168.2_Silent_p.S286S|ITGA7_ENST00000394229.2_Silent_p.S379S|ITGA7_ENST00000394230.2_Silent_p.S383S|ITGA7_ENST00000347027.6_Silent_p.S379S|ITGA7_ENST00000555728.1_Silent_p.S423S|ITGA7_ENST00000257879.6_Silent_p.S379S			Q13683	ITA7_HUMAN	integrin, alpha 7	423					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCCCGAACATGGAGTCAGGGG	0.632000													16	5					0	0	0.00400662	0	0
TTN	7273	broad.mit.edu	37	2	179428628	179428628	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:179428628C>T	ENST00000589042.1	-	326	82455	c.82231G>A	c.(82231-82233)Gag>Aag	p.E27411K	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E25770K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E18471K|TTN_ENST00000342992.6_Missense_Mutation_p.E24843K|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E18346K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E18538K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25770							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)			CGGCTTGTCTCCCTCTTTTCA	0.428000													43	59					0	0	0.00361006	0	0
TP53	7157	broad.mit.edu	37	17	7578176	7578176	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:7578176C>T	ENST00000420246.2	-	6	805		c.e6+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)		GCAAACCAGACCTCAGGCGGC	0.527000		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)			17	1					0	0	0.00400662	0	0
DZIP1	22873	broad.mit.edu	37	13	96238367	96238367	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr13:96238367C>T	ENST00000347108.3	-	19	2674	c.2242G>A	c.(2242-2244)Gaa>Aaa	p.E748K	DZIP1_ENST00000361396.2_Missense_Mutation_p.E729K|DZIP1_ENST00000376829.2_Missense_Mutation_p.E748K|DZIP1_ENST00000361156.3_Missense_Mutation_p.E729K			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	748					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TCAACTTTTTCAGTAGGTGTT	0.313000													14	23					0	0	0.00244969	0	0
DAB2IP	153090	broad.mit.edu	37	9	124535048	124535048	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:124535048C>T	ENST00000408936.3	+	12	2423	c.2241C>T	c.(2239-2241)tcC>tcT	p.S747S	DAB2IP_ENST00000309989.1_Silent_p.S623S|DAB2IP_ENST00000259371.2_Silent_p.S719S			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	747					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						AGAGCCTCTCCATGGTGGACC	0.687000													12	13					0	0	0.00244969	0	0
SCN1A	6323	broad.mit.edu	37	2	166892656	166892656	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:166892656G>A	ENST00000423058.2	-	16	3348	c.3331C>T	c.(3331-3333)Ctt>Ttt	p.L1111F	SCN1A_ENST00000409050.1_Missense_Mutation_p.L1083F|SCN1A_ENST00000375405.3_Missense_Mutation_p.L1100F|SCN1A_ENST00000303395.4_Missense_Mutation_p.L1111F|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1111						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GTCACAGTAAGACTGGGGTTG	0.368000													34	58					0	0	0.000953801	0	0
SUGP2	10147	broad.mit.edu	37	19	19120953	19120953	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:19120953G>A	ENST00000601879.1	-	5	2346	c.2049C>T	c.(2047-2049)ctC>ctT	p.L683L	SUGP2_ENST00000452918.2_Silent_p.L683L|SUGP2_ENST00000337018.6_Silent_p.L683L|SUGP2_ENST00000600377.1_Silent_p.L697L|SUGP2_ENST00000456085.2_Silent_p.L452L			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	683					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CTTGAGCACGGAGGAGCCCCC	0.667000													33	53					0	0	0.00209593	0	0
NCOA2	10499	broad.mit.edu	37	8	71069053	71069053	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:71069053G>A	ENST00000452400.2	-	11	1728	c.1547C>T	c.(1546-1548)cCt>cTt	p.P516L	NCOA2_ENST00000524223.1_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	516					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AACTCCCACAGGGGAATGCAA	0.572000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								11	30					0	0	0.000673444	0	0
EPHB3	2049	broad.mit.edu	37	3	184290369	184290369	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:184290369C>T	ENST00000330394.2	+	3	713	c.261C>T	c.(259-261)agC>agT	p.S87S	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	87						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCGAGTCAAGCCAGAACAACT	0.562000													15	7					0	0	0.00074312	0	0
LONRF2	164832	broad.mit.edu	37	2	100938438	100938438	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:100938438C>T	ENST00000393437.3	-	1	757	c.118G>A	c.(118-120)Gag>Aag	p.E40K		NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	40					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GCTGCCATCTCGTAGTCGCCC	0.771000													3	4					0	0	0.00024832	0	0
KRT26	353288	broad.mit.edu	37	17	38926624	38926624	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:38926624C>T	ENST00000335552.4	-	3	610	c.562G>A	c.(562-564)Gcc>Acc	p.A188T		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	188	Coil 1B.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CTGGTGTCGGCCTCAACACTG	0.488000													29	11					0	0	0.00178596	0	0
NOD1	10392	broad.mit.edu	37	7	30491343	30491343	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:30491343G>A	ENST00000222823.4	-	6	2215	c.1690C>T	c.(1690-1692)Ccg>Tcg	p.P564S		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	564					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CACTGGAACGGGAGGAAGGGA	0.627000													43	78					0	0	0.00285205	0	0
EPPK1	83481	broad.mit.edu	37	8	144945296	144945296	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:144945296C>T	ENST00000525985.1	-	2	2197	c.2126G>A	c.(2125-2127)gGc>gAc	p.G709D				P58107	EPIPL_HUMAN	epiplakin 1	709						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GACGATGAGGCCCTTCTGCAT	0.677000													8	33					0	0	0.000274275	0	0
MACC1	346389	broad.mit.edu	37	7	20197851	20197851	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:20197851C>T	ENST00000400331.5	-	5	2441	c.2133G>A	c.(2131-2133)agG>agA	p.R711R	MACC1_ENST00000589011.1_Silent_p.R711R|MACC1_ENST00000332878.4_Silent_p.R711R	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	711					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						ACAGAAACTTCCTTGTATTTC	0.318000													48	48					0	0	0.00361006	0	0
RERE	473	broad.mit.edu	37	1	8716354	8716354	+	Translation_Start_Site	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:8716354C>T	ENST00000337907.3	-	3	637	c.3G>A	c.(1-3)atG>atA	p.M1I	RERE_ENST00000400907.2_Start_Codon_SNP_p.M1I|RERE_ENST00000400908.2_Start_Codon_SNP_p.M1I	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		tgtcCGCTGTCATGATTCGCC	0.498000													66	57					0	0	0.00361006	0	0
CEP192	55125	broad.mit.edu	37	18	13056304	13056304	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr18:13056304G>A	ENST00000506447.1	+	19	3795	c.3715G>A	c.(3715-3717)Gac>Aac	p.D1239N	CEP192_ENST00000325971.8_Missense_Mutation_p.D643N|CEP192_ENST00000430049.2_Missense_Mutation_p.D764N	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	834										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTCTGTGGCTGACATGCAGAA	0.537000													10	11					0	0	0.000673444	0	0
DSG4	147409	broad.mit.edu	37	18	28986336	28986336	+	Splice_Site	SNP	T	T	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr18:28986336T>C	ENST00000359747.4	+	12	1962	c.1933_splice	c.e12+1	p.L645_splice	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Splice_Site_p.L645_splice|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	645					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCTACTGATTTGTAAGTACTC	0.453000													32	16					0	0	0.00428921	0	0
XIRP2	129446	broad.mit.edu	37	2	168107797	168107797	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:168107797G>A	ENST00000409195.1	+	9	9984	c.9895G>A	c.(9895-9897)Gtt>Att	p.V3299I	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V3299I|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V3077I|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3124					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CATCCGCAAGGTTGCAGTGCC	0.453000													36	57					0	0	0.00285205	0	0
WDR62	284403	broad.mit.edu	37	19	36592979	36592979	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:36592979C>T	ENST00000401500.2	+	26	3181	c.3146C>T	c.(3145-3147)tCc>tTc	p.S1049F	WDR62_ENST00000270301.7_Missense_Mutation_p.S1049F	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	1049					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCCAGCAGCTCCCTACCCCAG	0.642000													22	49					0	0	0.00106085	0	0
SLC12A8	84561	broad.mit.edu	37	3	124802787	124802787	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:124802787G>A	ENST00000423114.2	-	14	2178	c.2179C>T	c.(2179-2181)Cgc>Tgc	p.R727C	SLC12A8_ENST00000469902.1_Missense_Mutation_p.R698C|SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000393469.4_Missense_Mutation_p.R698C|SLC12A8_ENST00000314584.7_Missense_Mutation_p.R359C|SLC12A8_ENST00000430155.2_Missense_Mutation_p.R499C			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	698					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						TGGTGGTAGCGATCCCGAGTG	0.577000													10	11					0	0	0.00185496	0	0
RGL2	5863	broad.mit.edu	37	6	33262764	33262764	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:33262764G>A	ENST00000497454.1	-	10	1763	c.1268C>T	c.(1267-1269)tCc>tTc	p.S423F	PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_Missense_Mutation_p.S341F|RGL2_ENST00000437840.2_5'UTR	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	423	Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CCCACCCCGGGAGCCAGACCT	0.592000													3	1					0	0	6.4e-05	0	0
SCN9A	6335	broad.mit.edu	37	2	167162345	167162345	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:167162345G>A	ENST00000375387.4	-	5	896	c.556C>T	c.(556-558)Cgt>Tgt	p.R186C	SCN9A_ENST00000303354.6_Missense_Mutation_p.R186C|SCN9A_ENST00000409672.1_Missense_Mutation_p.R185C|SCN9A_ENST00000409435.1_Missense_Mutation_p.R185C			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	185						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CACGGGTCACGAAGAAAAGTG	0.378000													29	50					0	0	0.001512	0	0
PDE8B	8622	broad.mit.edu	37	5	76722338	76722338	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:76722338G>A	ENST00000264917.5	+	22	2662	c.2617G>A	c.(2617-2619)Gac>Aac	p.D873N	PDE8B_ENST00000342343.4_Missense_Mutation_p.D853N|PDE8B_ENST00000340978.3_Missense_Mutation_p.D826N|PDE8B_ENST00000333194.4_Missense_Mutation_p.D818N|PDE8B_ENST00000346042.3_Missense_Mutation_p.D776N|PDE8B_ENST00000505283.1_Missense_Mutation_p.D338N	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	873					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GACACTAGATGACCTAAAGTG	0.473000													76	79					0	0	0.00361006	0	0
PLCB4	5332	broad.mit.edu	37	20	9319684	9319684	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr20:9319684G>A	ENST00000378501.2	+	4	384	c.369_splice	c.e4+1	p.K123_splice	PLCB4_ENST00000378493.1_Splice_Site_p.K123_splice|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Splice_Site_p.K123_splice|PLCB4_ENST00000414679.2_Splice_Site_p.K123_splice|PLCB4_ENST00000334005.3_Splice_Site_p.K123_splice|PLCB4_ENST00000378473.3_Splice_Site_p.K123_splice	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	123					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AAGTAACTAAGGTAGCTTCAG	0.373000													15	6					0	0	0.00400662	0	0
C1orf116	79098	broad.mit.edu	37	1	207196812	207196812	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:207196812C>T	ENST00000359470.5	-	4	546	c.297G>A	c.(295-297)gaG>gaA	p.E99E	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	99						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					GAGTGATGGTCTCCTCTGGAC	0.562000													20	18					0	0	0.00152264	0	0
FAM183B	340286	broad.mit.edu	37	7	38725587	38725587	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:38725587C>T	ENST00000409072.3	-	2	953	c.19G>A	c.(19-21)Gag>Aag	p.E7K						family with sequence similarity 183, member B											endometrium(1)|lung(7)	8						ACCACCCTCTCTTTCGGGTGT	0.587000													36	29					0	0	0.00195071	0	0
MED13	9969	broad.mit.edu	37	17	60032752	60032752	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:60032752G>A	ENST00000397786.2	-	26	6035	c.5959C>T	c.(5959-5961)Ccc>Tcc	p.P1987S		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1987					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCATTGTTGGGATTGAAAGCT	0.368000													9	21					0	0	0.000274275	0	0
TMEM179B	374395	broad.mit.edu	37	11	62556590	62556590	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:62556590C>T	ENST00000333449.4	+	2	197	c.192C>T	c.(190-192)taC>taT	p.Y64Y	TMEM179B_ENST00000533861.1_Silent_p.Y64Y|TMEM223_ENST00000527073.1_Intron|TMEM223_ENST00000525631.1_Intron	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	64						integral to membrane				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						CCCTGTGCTACTTTGTAGCTG	0.592000													38	29					0	0	0.00128727	0	0
HPN	3249	broad.mit.edu	37	19	35551309	35551309	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:35551309G>A	ENST00000262626.2	+	8	1338	c.513G>A	c.(511-513)ttG>ttA	p.L171L	HPN_ENST00000392226.1_Silent_p.L171L|HPN_ENST00000597419.1_Intron|HPN-AS1_ENST00000392227.2_RNA	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	171	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	ACACCAGCTTGGGCCGGTGGC	0.687000													14	49					0	0	0.00316338	0	0
DNAH9	1770	broad.mit.edu	37	17	11584057	11584057	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:11584057G>A	ENST00000262442.3	+	19	3662	c.3594G>A	c.(3592-3594)tgG>tgA	p.W1198*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.W1198*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1198	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGAGAAATGGAACAACATAA	0.537000													26	3					0	0	0.00106085	0	0
GNAS	2778	broad.mit.edu	37	20	57415482	57415482	+	Silent	SNP	C	C	T	rs148910090		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr20:57415482C>T	ENST00000313949.7	+	1	710	c.321C>T	c.(319-321)ttC>ttT	p.F107F	GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371075.3_Silent_p.F107F|GNAS_ENST00000371098.2_Silent_p.F107F|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	120					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGGAAGAGTTCGACTACGAGA	0.617000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			24	33					0	0	0.00278032	0	0
ZNF573	126231	broad.mit.edu	37	19	38230687	38230687	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:38230687T>G	ENST00000339503.4	-	8	1031	c.530A>C	c.(529-531)cAa>cCa	p.Q177P	ZNF573_ENST00000357309.3_Missense_Mutation_p.Q147P|ZNF573_ENST00000590414.2_Missense_Mutation_p.Q235P|ZNF573_ENST00000392138.1_Missense_Mutation_p.Q148P|ZNF573_ENST00000536220.1_Missense_Mutation_p.Q147P	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TCTCTCATGTTGAACAATGTG	0.443000													21	53					0	0	0.00188189	0	0
GPR158	57512	broad.mit.edu	37	10	25886859	25886859	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr10:25886859G>A	ENST00000376351.3	+	11	2663	c.2304G>A	c.(2302-2304)caG>caA	p.Q768Q	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	768						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TCAGCCGGCAGTGCTCTAAAG	0.567000													32	15					0	0	0.001512	0	0
PAX4	5078	broad.mit.edu	37	7	127254541	127254541	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:127254541G>T	ENST00000341640.2	-	3	612	c.407C>A	c.(406-408)tCa>tAa	p.S136*	PAX4_ENST00000378740.2_Nonsense_Mutation_p.S136*|PAX4_ENST00000338516.3_Nonsense_Mutation_p.S144*|PAX4_ENST00000463946.1_Nonsense_Mutation_p.S134*	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	144					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CCCACCTGGTGACCTGAGCCG	0.537000													5	15					5.9392e-07	1.63584e-06	0.00116845	1	0
FILIP1	27145	broad.mit.edu	37	6	76023417	76023417	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:76023417G>A	ENST00000393004.2	-	5	2352	c.2131C>T	c.(2131-2133)Cgg>Tgg	p.R711W	FILIP1_ENST00000237172.7_Missense_Mutation_p.R711W|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.R612W			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	711								p.R711W(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCTTCCAACCGAAATCTGTGT	0.413000													86	35					0	0	0.00361006	0	0
ZNF804A	91752	broad.mit.edu	37	2	185798449	185798449	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:185798449G>T	ENST00000302277.6	+	3	969	c.375G>T	c.(373-375)aaG>aaT	p.K125N		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	125						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGCTAAGAAAGGAAACTGTAT	0.393000													6	8					0.000157383	0.000428784	0.00307968	1	0
ZNF329	79673	broad.mit.edu	37	19	58640279	58640279	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:58640279G>A	ENST00000598312.1	-	4	825	c.592C>T	c.(592-594)Cct>Tct	p.P198S	ZNF329_ENST00000358067.4_Missense_Mutation_p.P198S	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TTCTCTCCAGGGAGATTTCTC	0.388000													25	33					0	0	0.00106085	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140783075	140783075	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:140783075G>A	ENST00000573521.1	+	1	556	c.556G>A	c.(556-558)Gac>Aac	p.D186N	PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGACTGGAGACAATGGAGC	0.607000													5	25					0	0	0.000602214	0	0
CCDC27	148870	broad.mit.edu	37	1	3683812	3683812	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:3683812G>A	ENST00000294600.2	+	10	1630	c.1546G>A	c.(1546-1548)Gag>Aag	p.E516K		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	516										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GTCGGAACTGGAGAGAAAGCT	0.552000													6	19					0	0	0.00198382	0	0
TTN	7273	broad.mit.edu	37	2	179497688	179497688	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:179497688G>A	ENST00000589042.1	-	234	43394	c.43170C>T	c.(43168-43170)ttC>ttT	p.F14390F	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Silent_p.F12749F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Silent_p.F5450F|TTN_ENST00000342992.6_Silent_p.F11822F|TTN_ENST00000460472.2_Silent_p.F5325F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.F5517F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12749							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)			TAGCAGCCTGGAAGGAAACCT	0.438000													30	63					0	0	0.00178596	0	0
TTC13	79573	broad.mit.edu	37	1	231059650	231059650	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:231059650C>G	ENST00000366661.4	-	15	1758	c.1751G>C	c.(1750-1752)tGg>tCg	p.W584S	TTC13_ENST00000366662.4_Missense_Mutation_p.W531S|TTC13_ENST00000414259.1_Missense_Mutation_p.W531S	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	584							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TTGATCTAACCACAGCACGGG	0.393000													44	30					0	0	0.00361006	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100567185	100567185	+	RNA	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:100567185G>A	ENST00000397112.4	-	0	252				RP11-175P13.3_ENST00000548404.2_RNA	NR_036632.1															large_intestine(1)|lung(3)	4						GCCTCACAAGGAAAGCTGCTC	0.483000													7	7					0	0	0.00307968	0	0
GLG1	2734	broad.mit.edu	37	16	74491788	74491788	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr16:74491788G>A	ENST00000422840.2	-	24	3248	c.3249C>T	c.(3247-3249)acC>acT	p.T1083T	GLG1_ENST00000205061.5_Silent_p.T1083T|GLG1_ENST00000447066.2_Silent_p.T1072T	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	1083						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CGCGGCCAGGGGTGATGGCTG	0.507000													29	48					0	0	0.00209593	0	0
CALCA	796	broad.mit.edu	37	11	14992716	14992716	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:14992716G>A	ENST00000361010.3	-	2	97	c.23C>T	c.(22-24)cCc>cTc	p.P8L	CALCA_ENST00000359642.3_Missense_Mutation_p.P8L|CALCA_ENST00000486207.1_Missense_Mutation_p.P8L|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000331587.4_Missense_Mutation_p.P8L|CALCA_ENST00000396372.2_Missense_Mutation_p.P8L	NM_001033953.2	NP_001029125.1	P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	8					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	AGCCAGGAAGGGGGAGAACTT	0.547000													22	27					0	0	0.00229938	0	0
PTPRH	5794	broad.mit.edu	37	19	55715387	55715387	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:55715387C>T	ENST00000376350.3	-	5	671	c.649G>A	c.(649-651)Gag>Aag	p.E217K	PTPRH_ENST00000263434.5_Intron|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	217	Fibronectin type-III 3.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GTCTGAGCCTCCACTCTCAGG	0.542000													10	31					0	0	0.000673444	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077844	19077844	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:19077844G>A	ENST00000329773.2	-	2	193	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	36					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AAAAGGATCAGGAAGACCGGG	0.562000													62	58					0	0	0.00361006	0	0
RIMS1	22999	broad.mit.edu	37	6	72960098	72960098	+	Silent	SNP	A	A	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:72960098A>C	ENST00000264839.7	+	13	2307	c.2307A>C	c.(2305-2307)ctA>ctC	p.L769L	RIMS1_ENST00000517827.1_Silent_p.L228L|RIMS1_ENST00000518273.1_Silent_p.L769L|RIMS1_ENST00000523963.1_Silent_p.L243L|RIMS1_ENST00000522291.1_Silent_p.L769L|RIMS1_ENST00000425662.2_Silent_p.L162L|RIMS1_ENST00000521978.1_Silent_p.L769L|RIMS1_ENST00000520567.1_Silent_p.L769L|RIMS1_ENST00000491071.2_Silent_p.L769L|RIMS1_ENST00000401910.3_Silent_p.L243L|RIMS1_ENST00000517960.1_Silent_p.L769L|RIMS1_ENST00000348717.5_Silent_p.L769L			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	769	C2 1.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CAACAGATCTACCTGCTAGAG	0.343000													12	4					0	0	0.00136819	0	0
SEMA6C	10500	broad.mit.edu	37	1	151110270	151110270	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:151110270G>T	ENST00000341697.3	-	10	2364	c.673C>A	c.(673-675)Cac>Aac	p.H225N				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	225	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGGACAAAGTGTGGCTCTAAG	0.547000													23	15					7.87624e-14	2.20736e-13	0.00278032	1	0
ZNF407	55628	broad.mit.edu	37	18	72346955	72346955	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr18:72346955C>T	ENST00000299687.5	+	1	3980	c.3980C>T	c.(3979-3981)tCt>tTt	p.S1327F	ZNF407_ENST00000577538.1_Missense_Mutation_p.S1327F|ZNF407_ENST00000309902.6_Missense_Mutation_p.S1327F|ZNF407_ENST00000582337.1_Missense_Mutation_p.S1327F	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGCCCAGCTTCTGATAGCACA	0.393000													13	29					0	0	0.00185496	0	0
PCDHB13	56123	broad.mit.edu	37	5	140596017	140596017	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:140596017C>T	ENST00000341948.4	+	1	2509	c.2322C>T	c.(2320-2322)ttC>ttT	p.F774F		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		774					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCCAACTTCCCTCCCCAGT	0.478000													15	45					0	0	0.00316338	0	0
STRAP	11171	broad.mit.edu	37	12	16050834	16050834	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:16050834C>T	ENST00000419869.2	+	7	970	c.657C>T	c.(655-657)tcC>tcT	p.S219S	STRAP_ENST00000025399.6_Silent_p.S232S|STRAP_ENST00000538352.1_Silent_p.S125S	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	219					mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				CAATTAAATCCTTTGAAGCTC	0.303000													35	17					0	0	0.00111076	0	0
MAN2A2	4122	broad.mit.edu	37	15	91450695	91450695	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:91450695G>T	ENST00000360468.3	+	7	1184	c.1166G>T	c.(1165-1167)cGg>cTg	p.R389L	MAN2A2_ENST00000431652.2_5'UTR|MAN2A2_ENST00000559717.1_Missense_Mutation_p.R389L	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	389					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GTGCCACCCCGGGCCATCACA	0.607000													6	253					0.00198382	0.00537157	0.00198382	1	0
CD163L1	283316	broad.mit.edu	37	12	7526034	7526034	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:7526034G>A	ENST00000313599.3	-	14	3669	c.3612C>T	c.(3610-3612)ttC>ttT	p.F1204F	CD163L1_ENST00000416109.2_Silent_p.F1214F|CD163L1_ENST00000396630.1_Silent_p.F1204F			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1204	SRCR 11.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCACCCACATGAAACCAGAGC	0.537000													40	15					0	0	0.00170553	0	0
ABCC2	1244	broad.mit.edu	37	10	101554225	101554225	+	Splice_Site	SNP	G	G	A	rs143584410		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr10:101554225G>A	ENST00000370449.4	+	6	745	c.632_splice	c.e6+1	p.S211_splice	ABCC2_ENST00000370434.1_Splice_Site_p.S211_splice|ABCC2_ENST00000496621.1_3'UTR	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	211						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGGTATGACAGGTAGGAAAGC	0.373000													21	7					0	0	0.00188189	0	0
NRXN1	9378	broad.mit.edu	37	2	50573970	50573970	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:50573970T>G	ENST00000342183.5	-	1	922	c.118A>C	c.(118-120)Acc>Ccc	p.T40P	NRXN1_ENST00000404971.1_Intron|NRXN1_ENST00000401669.2_Intron|NRXN1_ENST00000406316.2_Intron|NRXN1_ENST00000401710.1_Intron|NRXN1_ENST00000405472.3_Intron|NRXN1_ENST00000331040.5_Intron|NRXN1_ENST00000402717.3_Intron|NRXN1_ENST00000406859.3_Intron	NM_138735.2	NP_620072.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	0	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCGCTGAGGGTGAGCGGGACT	0.721000													6	8					0	0	0.00116845	0	0
OR5B21	219968	broad.mit.edu	37	11	58275155	58275155	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:58275155G>A	ENST00000360374.2	-	1	423	c.424C>T	c.(424-426)Ctt>Ttt	p.L142F		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CCAGTAGCAAGGAGGGCACAC	0.512000													13	24					0	0	0.00185496	0	0
WDR60	55112	broad.mit.edu	37	7	158663908	158663908	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:158663908C>T	ENST00000407559.3	+	3	303	c.145C>T	c.(145-147)Ctt>Ttt	p.L49F		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	49										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TGAGATGGACCTTCCTGAACA	0.547000													15	8					0	0	0.00316338	0	0
DNAH8	1769	broad.mit.edu	37	6	38854604	38854604	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:38854604A>T	ENST00000359357.3	+	55	7900	c.7646A>T	c.(7645-7647)gAa>gTa	p.E2549V	DNAH8_ENST00000441566.1_Missense_Mutation_p.E2513V|DNAH8_ENST00000449981.2_Missense_Mutation_p.E2766V					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATGGAAATGGAAGGAATGTAC	0.388000													19	67					0	0	0.00188189	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276908	71276908	+	Missense_Mutation	SNP	G	G	A	rs36179995		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:71276908G>A	ENST00000398531.1	+	1	300	c.275G>A	c.(274-276)gGg>gAg	p.G92E	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	92	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGCTCCAAGGGGGGCTGTGGC	0.677000													11	43					0	0	0.00074312	0	0
THADA	63892	broad.mit.edu	37	2	43805682	43805682	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:43805682C>T	ENST00000403856.1	-	10	933	c.786G>A	c.(784-786)atG>atA	p.M262I	THADA_ENST00000415080.2_5'UTR|THADA_ENST00000404790.1_Missense_Mutation_p.M262I|THADA_ENST00000405975.2_Missense_Mutation_p.M262I|THADA_ENST00000402360.2_Missense_Mutation_p.M262I|THADA_ENST00000405006.4_Missense_Mutation_p.M262I			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	262							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ACGGGTGAAACATAGTCTTAA	0.323000													100	130					0	0	0.00361006	0	0
FLG	2312	broad.mit.edu	37	1	152280668	152280668	+	Missense_Mutation	SNP	C	C	A	rs143075913		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:152280668C>A	ENST00000368799.1	-	3	6729	c.6694G>T	c.(6694-6696)Ggg>Tgg	p.G2232W	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2232	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCTGGGCCCTGATGATTGT	0.587000									Ichthyosis				40	103					3.05275e-18	8.5828e-18	0.00321405	1	0
TMEM260	54916	broad.mit.edu	37	14	57114180	57114180	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr14:57114180G>A	ENST00000261556.6	+	16	2211	c.2089G>A	c.(2089-2091)Gaa>Aaa	p.E697K	TMEM260_ENST00000536419.1_Missense_Mutation_p.E231K|RP11-1085N6.2_ENST00000553800.1_RNA|RP11-1085N6.2_ENST00000555924.1_RNA	NM_017799.3	NP_060269.3			transmembrane protein 260																		CCTAAGAAAAGAACTGCAAAG	0.398000													24	7					0	0	0.00332997	0	0
ATP1B3	483	broad.mit.edu	37	3	141632563	141632563	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:141632563C>T	ENST00000539728.1	+	5	667	c.374C>T	c.(373-375)cCa>cTa	p.P125L	ATP1B3_ENST00000462082.1_Intron|ATP1B3_ENST00000286371.3_Missense_Mutation_p.P139L			P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide	139					ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			cervix(1)|endometrium(1)|lung(2)	4						CAGAAGGGTCCAGTTTATGTT	0.378000													61	25					0	0	0.00361006	0	0
AKR1B15	441282	broad.mit.edu	37	7	134253003	134253003	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:134253003G>C	ENST00000457545.2	+	4	504	c.244G>C	c.(244-246)Gag>Cag	p.E82Q	AKR1B15_ENST00000423958.1_Missense_Mutation_p.E54Q	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	82							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						GAATCAACATGAGGTGGGAGA	0.498000													31	141					0	0	0.001512	0	0
TTN	7273	broad.mit.edu	37	2	179398114	179398114	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:179398114C>T	ENST00000589042.1	-	358	103452	c.103228G>A	c.(103228-103230)Gaa>Aaa	p.E34410K	TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E32769K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25470K|TTN_ENST00000342992.6_Missense_Mutation_p.E31842K|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E25345K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25537K|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588804.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32769							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)			TGGATAATTTCAATGTTAGGC	0.478000													39	49					0	0	0.00148497	0	0
RPAP2	79871	broad.mit.edu	37	1	92789402	92789402	+	Silent	SNP	T	T	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:92789402T>C	ENST00000370343.3	+	8	1034	c.925T>C	c.(925-927)Tta>Cta	p.L309L	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	309						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		GCCTGAAAGATTAAAAGCGTC	0.343000													35	33					0	0	0.000953801	0	0
MGA	23269	broad.mit.edu	37	15	42050032	42050032	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:42050032C>T	ENST00000219905.7	+	19	7367	c.7186C>T	c.(7186-7188)Cga>Tga	p.R2396*	MGA_ENST00000566586.1_Nonsense_Mutation_p.R2187*|MGA_ENST00000389936.4_Nonsense_Mutation_p.R2357*|MGA_ENST00000545763.1_Nonsense_Mutation_p.R2187*|MGA_ENST00000570161.1_Nonsense_Mutation_p.R2396*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2357	Helix-loop-helix motif.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TGAAAGGAGTCGAAAGGTATT	0.323000													26	28					0	0	0.000878237	0	0
PAH	5053	broad.mit.edu	37	12	103288625	103288625	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:103288625G>A	ENST00000553106.1	-	3	712	c.240C>T	c.(238-240)ttC>ttT	p.F80F	PAH_ENST00000551988.1_5'UTR|PAH_ENST00000307000.2_Silent_p.F75F	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	80	ACT.				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CCAAATGGGTGAAAAATTCAT	0.433000													20	21					0	0	0.00121646	0	0
SPATA21	374955	broad.mit.edu	37	1	16736505	16736505	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:16736505C>G	ENST00000335496.1	-	6	660	c.178G>C	c.(178-180)Gac>Cac	p.D60H	SPATA21_ENST00000540400.1_Missense_Mutation_p.D37H|SPATA21_ENST00000466212.1_5'UTR	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	60							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TGCGCACGGTCTGGCTCCCGC	0.647000													5	23					0	0	0.00116845	0	0
PRKX	5613	broad.mit.edu	37	X	3592740	3592740	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chrX:3592740C>T	ENST00000262848.5	-	2	588	c.234G>A	c.(232-234)aaG>aaA	p.K78K		NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	78	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				TGCTCATCACCTTGAGGGCGA	0.542000													63	19					0	0	0.00361006	0	0
SNAPC2	6618	broad.mit.edu	37	19	7987101	7987101	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:7987101C>T	ENST00000221573.6	+	4	605	c.554C>T	c.(553-555)gCc>gTc	p.A185V	SNAPC2_ENST00000597584.1_5'UTR	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	185					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CCTGACCCTGCCCCTGAGAAA	0.582000													28	58					0	0	0.001512	0	0
UBL7	84993	broad.mit.edu	37	15	74740848	74740848	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:74740848G>A	ENST00000567435.1	-	10	1439	c.976C>T	c.(976-978)Ctt>Ttt	p.L326F	UBL7_ENST00000564488.1_Missense_Mutation_p.L326F|UBL7_ENST00000361351.4_Missense_Mutation_p.L326F|UBL7_ENST00000565335.1_Missense_Mutation_p.L326F|UBL7_ENST00000395081.2_Missense_Mutation_p.L326F			Q96S82	UBL7_HUMAN	ubiquitin-like 7 (bone marrow stromal cell-derived)	326							protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GAGGCCTGAAGGGCATGCTGT	0.547000													58	55					0	0	0.00361006	0	0
OR1A1	8383	broad.mit.edu	37	17	3118944	3118944	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:3118944G>A	ENST00000304094.1	+	1	30	c.30G>A	c.(28-30)ctG>ctA	p.L10L		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CCTCTACACTGGAATTCATCC	0.408000													48	4					0	0	0.00361006	0	0
OR8H2	390151	broad.mit.edu	37	11	55872707	55872707	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:55872707C>T	ENST00000313503.1	+	1	189	c.189C>T	c.(187-189)ttC>ttT	p.F63F		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TGTATTTTTTCCTTACTCACC	0.418000										HNSCC(53;0.14)			45	116					0	0	0.00361006	0	0
PSD4	23550	broad.mit.edu	37	2	113956458	113956458	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:113956458C>T	ENST00000245796.6	+	15	2961	c.2766C>T	c.(2764-2766)tcC>tcT	p.S922S	PSD4_ENST00000441564.2_Silent_p.S893S	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	922					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						CCCAGAGCTCCCTGGTACGGC	0.736000													6	2					0	0	0.00116845	0	0
PTPN9	5780	broad.mit.edu	37	15	75766106	75766106	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:75766106G>A	ENST00000306726.2	-	10	1644	c.1132C>T	c.(1132-1134)Cct>Tct	p.P378S		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	378	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTCTCCAAAGGACCTGAAATA	0.413000													37	40					0	0	0.000953801	0	0
SAMD9	54809	broad.mit.edu	37	7	92730948	92730948	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:92730948C>T	ENST00000379958.2	-	3	4732	c.4463G>A	c.(4462-4464)aGa>aAa	p.R1488K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1488						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTTTCCAGTCTTTTACCTTT	0.373000													40	7					0	0	0.00111076	0	0
TRANK1	9881	broad.mit.edu	37	3	36899058	36899058	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:36899058C>T	ENST00000301807.6	-	12	2270	c.373G>A	c.(373-375)Gag>Aag	p.E125K	TRANK1_ENST00000429976.2_Missense_Mutation_p.E675K|TRANK1_ENST00000428977.2_Missense_Mutation_p.E125K	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	675					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GCTCCAGGCTCCTTCCTGGTC	0.567000													15	15					0	0	0.00244969	0	0
PAMR1	25891	broad.mit.edu	37	11	35456265	35456265	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:35456265C>T	ENST00000378880.2	-	10	1866	c.1421G>A	c.(1420-1422)gGg>gAg	p.G474E	PAMR1_ENST00000532848.1_Missense_Mutation_p.G434E|PAMR1_ENST00000378878.3_Missense_Mutation_p.G363E|PAMR1_ENST00000278360.3_Missense_Mutation_p.G491E	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	474	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GTCATGCACCCCGCTGGTCCT	0.587000													27	21					0	0	0.00127121	0	0
CAMTA1	23261	broad.mit.edu	37	1	7151398	7151398	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:7151398A>G	ENST00000303635.7	+	4	476	c.269A>G	c.(268-270)cAc>cGc	p.H90R	CAMTA1_ENST00000439411.2_Missense_Mutation_p.H90R	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TTTGAGAAACACGAAGAATGG	0.353000			T	WWTR1	epitheliod hemangioendothelioma								4	15					0	0	0.000602214	0	0
BCRP2	400892	broad.mit.edu	37	22	21470381	21470381	+	RNA	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr22:21470381G>A	ENST00000420508.1	-	0	3347				BCRP2_ENST00000461808.1_RNA																							TGCGCAGGACGGGATGGAGGT	0.572000													4	3					0	0	0.00024832	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401384	77401384	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr16:77401384G>A	ENST00000282849.5	-	4	1150	c.732C>T	c.(730-732)caC>caT	p.H244H	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	244					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACCTTCGATGGTGATACTCTG	0.483000													28	34					0	0	0.00127121	0	0
LYN	4067	broad.mit.edu	37	8	56863018	56863018	+	Splice_Site	SNP	G	G	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:56863018G>T	ENST00000520220.2	+	5	496	c.221_splice	c.e5-1	p.E74_splice	LYN_ENST00000519728.1_Splice_Site_p.E95_splice	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	95	SH3.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			TCTATTCTAGGCATGGAGAAT	0.353000													34	92					1.96642e-18	5.53743e-18	0.00148497	1	0
ACD	65057	broad.mit.edu	37	16	67694252	67694252	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr16:67694252C>T	ENST00000219251.8	-	1	461	c.130G>A	c.(130-132)Ggt>Agt	p.G44S	ACD_ENST00000393919.4_Missense_Mutation_p.G44S	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	44					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCACGTACACCCCGCGCCTGC	0.736000													6	17					0	0	0.00198382	0	0
RTN3	10313	broad.mit.edu	37	11	63486921	63486921	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:63486921C>T	ENST00000377819.5	+	3	1101	c.947C>T	c.(946-948)tCa>tTa	p.S316L	RTN3_ENST00000356000.3_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.S297L|RTN3_ENST00000540798.1_Missense_Mutation_p.S204L|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000537981.1_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	316					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AGGCAGTTTTCACACACAAAT	0.428000													18	44					0	0	0.00121646	0	0
AOX1	316	broad.mit.edu	37	2	201464445	201464445	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:201464445G>A	ENST00000374700.2	+	5	653	c.412G>A	c.(412-414)Gat>Aat	p.D138N		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	138					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GCCCACTCTGGATCAGTTAAC	0.433000													15	47					0	0	0.00074312	0	0
CROCC	9696	broad.mit.edu	37	1	17292503	17292503	+	Silent	SNP	C	C	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:17292503C>A	ENST00000375541.5	+	29	4654	c.4585C>A	c.(4585-4587)Cgg>Agg	p.R1529R		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1529					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGACGAACTTCGGACCCAGAC	0.647000													11	28					0.00010058	0.000274451	0.00136819	1	0
PCDH18	54510	broad.mit.edu	37	4	138453044	138453044	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr4:138453044G>A	ENST00000344876.4	-	1	585	c.199C>T	c.(199-201)Cga>Tga	p.R67*	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Nonsense_Mutation_p.R67*|PCDH18_ENST00000507846.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	67	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGCATGGCTCGAAATCGAACA	0.433000													38	19					0	0	0.00428921	0	0
DPYD	1806	broad.mit.edu	37	1	97547900	97547900	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:97547900C>T	ENST00000370192.3	-	22	2993	c.2893G>A	c.(2893-2895)Gat>Aat	p.D965N		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	965	4Fe-4S ferredoxin-type 2.				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TAGCCAGAATCATTACAGGTC	0.393000													21	72					0	0	0.00152264	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64602565	64602565	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:64602565C>T	ENST00000342711.5	-	17	2013	c.2014G>A	c.(2014-2016)Gag>Aag	p.E672K		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	672					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CTCTCCGTCTCCCGCCGCTCA	0.706000													10	17					0	0	0.000978159	0	0
C1orf173	127254	broad.mit.edu	37	1	75078475	75078475	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:75078475G>A	ENST00000326665.5	-	9	1237	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.S143F	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	340										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ATGCCTTTTGGAAATAAACTG	0.373000													7	10					0	0	0.00198382	0	0
CACNA1E	777	broad.mit.edu	37	1	181767596	181767596	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:181767596G>A	ENST00000526775.1	+	46	6547	c.6382G>A	c.(6382-6384)Gag>Aag	p.E2128K	CACNA1E_ENST00000360108.3_Missense_Mutation_p.E2171K|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E1754K|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E2190K|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E2141K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E2147K|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E2079K	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2190					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGATGGAAGCGAGGAGGGCTC	0.642000													18	17					0	0	0.000958276	0	0
CPZ	8532	broad.mit.edu	37	4	8602914	8602914	+	Silent	SNP	C	C	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr4:8602914C>A	ENST00000360986.4	+	3	360	c.186C>A	c.(184-186)ccC>ccA	p.P62P	CPZ_ENST00000382480.2_5'UTR|CPZ_ENST00000315782.6_Silent_p.P51P|CPZ_ENST00000506287.1_3'UTR	NM_001014447.2	NP_001014447.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	62	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCACCTTCCCCAACCTGCTTC	0.647000													20	6					1.28384e-07	3.54163e-07	0.00188189	1	0
PCDHB2	56133	broad.mit.edu	37	5	140474676	140474676	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:140474676C>A	ENST00000194155.4	+	1	450	c.302C>A	c.(301-303)aCa>aAa	p.T101K		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		101	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCGGCCCCACAGAGCCCTGT	0.478000													23	38					3.69857e-22	1.04822e-21	0.001512	1	0
ARID2	196528	broad.mit.edu	37	12	46244875	46244875	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:46244875C>T	ENST00000334344.6	+	15	3141	c.2969C>T	c.(2968-2970)tCg>tTg	p.S990L	ARID2_ENST00000422737.1_Missense_Mutation_p.S841L|ARID2_ENST00000444670.1_Missense_Mutation_p.S600L|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	990	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCCATGTCGTCGTCCTCTACC	0.498000			"""N, S, F"""		hepatocellular carcinoma								41	44					0	0	0.00321405	0	0
ZNF804A	91752	broad.mit.edu	37	2	185731203	185731203	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:185731203C>G	ENST00000302277.6	+	2	813	c.219C>G	c.(217-219)gaC>gaG	p.D73E		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	73						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGGAGTTTGACAATCACATTA	0.368000													6	33					0	0	0.00198382	0	0
NFKBID	84807	broad.mit.edu	37	19	36387017	36387017	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:36387017G>A	ENST00000396901.1	-	9	1044	c.471C>T	c.(469-471)ctC>ctT	p.L157L	NFKBID_ENST00000606253.1_Silent_p.L157L|NFKBID_ENST00000352614.2_Silent_p.L309L	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	157					inflammatory response	nucleus				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						TGGCCGTGTGGAGCGGGGTGA	0.642000													16	45					0	0	0.000566183	0	0
SIDT1	54847	broad.mit.edu	37	3	113303575	113303575	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:113303575G>A	ENST00000264852.4	+	8	1592	c.866G>A	c.(865-867)cGa>cAa	p.R289Q	SIDT1_ENST00000393830.3_Missense_Mutation_p.R289Q	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	289						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						AATCTACAGCGAAAAAAGAAC	0.353000													42	47					0	0	0.00361006	0	0
MYL1	4632	broad.mit.edu	37	2	211167237	211167237	+	Silent	SNP	G	G	A	rs140441697	byFrequency	TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:211167237G>A	ENST00000352451.3	-	2	282	c.135C>T	c.(133-135)atC>atT	p.I45I	MYL1_ENST00000341685.4_Intron|MYL1_ENST00000496436.1_Intron	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	45				I -> M (in Ref. 1; CAB42646).	muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		TAGAGAACTCGATCTGTTAGA	0.368000													15	17					0	0	0.00074312	0	0
MGAM	8972	broad.mit.edu	37	7	141755487	141755487	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:141755487G>A	ENST00000475668.2	+	28	3498	c.3444G>A	c.(3442-3444)tgG>tgA	p.W1148*	MGAM_ENST00000549489.2_Nonsense_Mutation_p.W1148*			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1148	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACTTGGAGTGGCACACTTGGG	0.552000													62	22					0	0	0.00361006	0	0
FOLR1	2348	broad.mit.edu	37	11	71907092	71907092	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:71907092C>T	ENST00000393679.1	+	5	1081	c.645C>T	c.(643-645)gaC>gaT	p.D215D	FOLR1_ENST00000312293.4_Silent_p.D215D|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393676.3_Silent_p.D215D|FOLR1_ENST00000393681.2_Silent_p.D215D			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	215					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						TGTGGTTCGACCCAGCCCAGG	0.607000													12	35					0	0	0.00136819	0	0
NLRP2	55655	broad.mit.edu	37	19	55496452	55496452	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:55496452G>A	ENST00000543010.1	+	7	2211	c.2068G>A	c.(2068-2070)Gac>Aac	p.D690N	NLRP2_ENST00000339757.7_Missense_Mutation_p.D668N|NLRP2_ENST00000391721.4_Missense_Mutation_p.D666N|NLRP2_ENST00000263437.6_Missense_Mutation_p.D687N|NLRP2_ENST00000448584.2_Missense_Mutation_p.D690N|NLRP2_ENST00000537859.1_Missense_Mutation_p.D668N|NLRP2_ENST00000538819.1_Missense_Mutation_p.D666N|NLRP2_ENST00000427260.2_Missense_Mutation_p.D667N	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	690					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TTTCTGGACGGACCTTTGTTC	0.438000													28	45					0	0	0.00283554	0	0
CNGA3	1261	broad.mit.edu	37	2	99012478	99012478	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:99012478C>T	ENST00000393504.1	+	8	1262	c.845C>T	c.(844-846)tCc>tTc	p.S282F	CNGA3_ENST00000436404.2_Missense_Mutation_p.S264F|CNGA3_ENST00000272602.2_Missense_Mutation_p.S282F|CNGA3_ENST00000409937.1_Missense_Mutation_p.S286F	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	282					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CTGAAGTTTTCCCGGCTCTTT	0.488000													20	21					0	0	0.000958276	0	0
OR8K1	390157	broad.mit.edu	37	11	56113702	56113702	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:56113702C>A	ENST00000279783.2	+	1	282	c.188C>A	c.(187-189)aCc>aAc	p.T63N		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M65fs*24(1)		large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					AAGCTACACACCCCCATGTAC	0.438000										HNSCC(65;0.19)			38	28					2.75727e-19	7.80193e-19	0.000953801	1	0
CCT8L2	150160	broad.mit.edu	37	22	17073303	17073303	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr22:17073303G>A	ENST00000359963.3	-	1	397	c.138C>T	c.(136-138)gtC>gtT	p.V46V		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	46					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AAGGCCGGATGACACTGGCCA	0.642000													31	8					0	0	0.001512	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110535117	110535117	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:110535117G>A	ENST00000378402.5	+	75	12432	c.12328G>A	c.(12328-12330)Gac>Aac	p.D4110N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4110					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AACAGATTCTGACGTAAGTCA	0.483000										HNSCC(38;0.096)			4	9					0	0	0.000602214	0	0
LCP2	3937	broad.mit.edu	37	5	169697901	169697901	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:169697901A>C	ENST00000046794.5	-	7	960	c.345T>G	c.(343-345)agT>agG	p.S115R		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	115					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		CATCATTGGGACTTTCATAAT	0.552000													5	15					0	0	0.00198382	0	0
ZNF418	147686	broad.mit.edu	37	19	58437907	58437907	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:58437907G>A	ENST00000396147.1	-	4	1933	c.1642C>T	c.(1642-1644)Cat>Tat	p.H548Y	ZNF418_ENST00000425570.3_Missense_Mutation_p.H569Y|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599852.1_Missense_Mutation_p.H463Y|ZNF418_ENST00000595830.1_Missense_Mutation_p.H548Y	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	548					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		GAGCTCTGATGAAATGACTTT	0.448000													21	38					0	0	0.00332997	0	0
ADCY1	107	broad.mit.edu	37	7	45725721	45725721	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:45725721T>C	ENST00000297323.7	+	13	2256	c.2234T>C	c.(2233-2235)tTc>tCc	p.F745S		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	745					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GCCATATTTTTCCGGGTGTCC	0.617000													25	58					0	0	0.00395357	0	0
GNAT1	2779	broad.mit.edu	37	3	50229240	50229240	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:50229240C>T	ENST00000232461.3	+	1	196	c.82C>T	c.(82-84)Cga>Tga	p.R28*	GNAT1_ENST00000433068.1_Nonsense_Mutation_p.R28*	NM_144499.2	NP_653082.1	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	28					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GAAGGATGCTCGAACCGTGAA	0.622000													11	13					0	0	0.000673444	0	0
POTEE	445582	broad.mit.edu	37	2	132021517	132021517	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:132021517C>T	ENST00000356920.5	+	15	2583	c.2489C>T	c.(2488-2490)cCa>cTa	p.P830L	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	830	Actin-like.						ATP binding										TTCAACACCCCAGCCATGTAC	0.622000													56	113					0	0	0.00361006	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347959	140347959	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:140347959C>T	ENST00000289269.5	+	1	2140	c.1608C>T	c.(1606-1608)tcC>tcT	p.S536S	PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		536	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTCAACTCCTTTGACTATG	0.527000													14	50					0	0	0.00316338	0	0
PITPNM1	9600	broad.mit.edu	37	11	67261017	67261017	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:67261017G>A	ENST00000356404.3	-	22	3431	c.3206C>T	c.(3205-3207)cCg>cTg	p.P1069L	PITPNM1_ENST00000534749.1_Missense_Mutation_p.P1069L|PITPNM1_ENST00000436757.2_Missense_Mutation_p.P1068L|PITPNM1_ENST00000526450.1_5'UTR	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	1069					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CTGCATATCCGGCCGGCCTGT	0.687000													5	1					0	0	0.000602214	0	0
C8A	731	broad.mit.edu	37	1	57349331	57349331	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:57349331G>A	ENST00000361249.3	+	6	928	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	278	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						ATTCTTGAACGAATTAAACAA	0.403000													5	21					0	0	0.00116845	0	0
GPHN	10243	broad.mit.edu	37	14	67390967	67390967	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr14:67390967C>T	ENST00000478722.1	+	8	1907	c.786C>T	c.(784-786)atC>atT	p.I262I	GPHN_ENST00000543237.1_Intron|GPHN_ENST00000459628.1_Silent_p.I244I|GPHN_ENST00000315266.5_Intron|GPHN_ENST00000305960.9_Intron|GPHN_ENST00000544752.2_3'UTR	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	243	Interaction with GABARAP (By similarity).				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AACAGCCCATCCCTGGTCTCA	0.413000			T	MLL	AL								20	7					0	0	0.00188189	0	0
CHST14	113189	broad.mit.edu	37	15	40763707	40763707	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:40763707G>C	ENST00000306243.5	+	1	548	c.295G>C	c.(295-297)Gac>Cac	p.D99H	CHST14_ENST00000559991.1_Missense_Mutation_p.D99H	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	99					carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		CAGGGCTGGGGACGCGGACTT	0.746000													9	10					0	0	0.000442599	0	0
TACR1	6869	broad.mit.edu	37	2	75425896	75425896	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:75425896C>T	ENST00000305249.4	-	1	930	c.165G>A	c.(163-165)tgG>tgA	p.W55*	TACR1_ENST00000409848.3_Nonsense_Mutation_p.W55*	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	55					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	CTAAGATGATCCACATCACTA	0.522000													9	15					0	0	0.000274275	0	0
CLCA3P	9629	broad.mit.edu	37	1	87102500	87102500	+	RNA	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:87102500G>A	ENST00000456587.1	-	0	294				CLCA3P_ENST00000466454.1_RNA																							ATTTGTCCATGAGTGGGCCCA	0.383000													44	43					0	0	0.00321405	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516104	138516104	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:138516104C>T	ENST00000371763.1	-	5	923	c.670G>A	c.(670-672)Gat>Aat	p.D224N		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	224					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TAATAGAAATCTCCCTGTCCA	0.463000													34	59					0	0	0.00428921	0	0
BRINP2	57795	broad.mit.edu	37	1	177250268	177250268	+	Silent	SNP	C	C	T	rs143029054	byFrequency	TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:177250268C>T	ENST00000361539.4	+	8	2268	c.1956C>T	c.(1954-1956)tcC>tcT	p.S652S	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		652						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GAATCAAGTCCCTGGATGACA	0.463000													37	20					0	0	0.000953801	0	0
IL6ST	3572	broad.mit.edu	37	5	55256367	55256367	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:55256367G>A	ENST00000381298.2	-	8	1148	c.836C>T	c.(835-837)tCc>tTc	p.S279F	IL6ST_ENST00000336909.5_Missense_Mutation_p.S279F|IL6ST_ENST00000502326.3_Missense_Mutation_p.S279F|IL6ST_ENST00000522633.2_Missense_Mutation_p.S279F|IL6ST_ENST00000381287.4_Missense_Mutation_p.S279F|IL6ST_ENST00000381293.2_Missense_Mutation_p.S113F|IL6ST_ENST00000381294.3_Missense_Mutation_p.S279F|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000536319.1_Missense_Mutation_p.S279F	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	279	Fibronectin type-III 2.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	p.S279C(2)		breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AGATCGGGTGGATGCTGTGTC	0.378000			O		hepatocellular ca								16	15					0	0	0.00316338	0	0
CNIH2	254263	broad.mit.edu	37	11	66050610	66050610	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:66050610C>T	ENST00000528852.1	+	4	570	c.303C>T	c.(301-303)caC>caT	p.H101H	CNIH2_ENST00000311445.6_Silent_p.H101H|CNIH2_ENST00000530519.1_3'UTR			Q6PI25	CNIH2_HUMAN	cornichon family AMPA receptor auxiliary protein 2	101					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|dendritic spine|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						TCTTCTACCACCTCTGGAGGT	0.607000											OREG0021100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	31					0	0	0.000878237	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934559	113934559	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:113934559C>T	ENST00000335953.4	+	2	917	c.537C>T	c.(535-537)ccC>ccT	p.P179P	ZBTB16_ENST00000392996.2_Silent_p.P179P	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	179					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TCCCTGGGCCCATGGTGGACC	0.557000													26	20					0	0	0.000878237	0	0
HFE	3077	broad.mit.edu	37	6	26091219	26091219	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:26091219C>T	ENST00000357618.5	+	2	349	c.227C>T	c.(226-228)tCc>tTc	p.S76F	HFE_ENST00000488199.1_Intron|HFE_ENST00000470149.1_Missense_Mutation_p.S76F|HFE_ENST00000349999.4_Intron|HFE_ENST00000336625.8_Missense_Mutation_p.S76F|HFE_ENST00000397022.3_Missense_Mutation_p.S53F|HFE_ENST00000317896.7_Missense_Mutation_p.S76F|HFE_ENST00000353147.5_Intron|HFE_ENST00000461397.1_Missense_Mutation_p.S76F|HFE_ENST00000309234.6_Missense_Mutation_p.S76F|HFE_ENST00000352392.4_Intron	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	76	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCATGGGTTTCCAGTAGAATT	0.488000									Hemochromatosis				6	30					0	0	0.00116845	0	0
PDLIM1	9124	broad.mit.edu	37	10	97028582	97028582	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr10:97028582C>T	ENST00000329399.6	-	3	394	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	96					response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CGCTTCCCTTCCTCCGTCACC	0.443000													35	8					0	0	0.00128727	0	0
SESN2	83667	broad.mit.edu	37	1	28599183	28599183	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:28599183T>G	ENST00000253063.3	+	5	950	c.629T>G	c.(628-630)tTc>tGc	p.F210C		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	210					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTCCTCCTTCGTGTTTGGC	0.647000													26	29					0	0	0.00127121	0	0
CHDC2	286464	broad.mit.edu	37	X	36117931	36117931	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chrX:36117931G>A	ENST00000378660.1	+	7	975	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	CHDC2_ENST00000313548.4_Missense_Mutation_p.E263K					calponin homology domain containing 2																		TATTGTTATAGAAATGTCTAA	0.323000													36	15					0	0	0.00148497	0	0
RYR1	6261	broad.mit.edu	37	19	38989876	38989876	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:38989876C>T	ENST00000355481.4	+	43	7151	c.7020C>T	c.(7018-7020)ttC>ttT	p.F2340F	RYR1_ENST00000360985.3_Silent_p.F2340F|RYR1_ENST00000359596.3_Silent_p.F2340F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2340	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TTGCTGTCTTCGTCAACGGTG	0.602000													13	36					0	0	0.00316338	0	0
NIN	51199	broad.mit.edu	37	14	51223778	51223778	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr14:51223778G>A	ENST00000245441.5	-	18	4160	c.3970C>T	c.(3970-3972)Ctg>Ttg	p.L1324L	NIN_ENST00000530997.2_Silent_p.L1324L|NIN_ENST00000453196.1_Silent_p.L1324L|NIN_ENST00000382043.4_Intron|NIN_ENST00000324330.9_Silent_p.L1324L|NIN_ENST00000382041.3_Silent_p.L1324L|NIN_ENST00000389868.3_Intron	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1324					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTCAAAACCAGAACATTCAGC	0.458000			T	PDGFRB	MPD								17	12					0	0	0.00400662	0	0
LAMB3	3914	broad.mit.edu	37	1	209789894	209789894	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:209789894C>A	ENST00000391911.1	-	21	3693	c.3304G>T	c.(3304-3306)Ggt>Tgt	p.G1102C	LAMB3_ENST00000356082.4_Missense_Mutation_p.G1102C|LAMB3_ENST00000367030.3_Missense_Mutation_p.G1102C	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	1102	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		ATCCGGGCACCCTGCTCACCC	0.498000													81	54					1.04643e-32	2.9753e-32	0.00361006	1	0
NBR1	4077	broad.mit.edu	37	17	41341720	41341720	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:41341720C>T	ENST00000422280.1	+	8	1055	c.596C>T	c.(595-597)aCt>aTt	p.T199I	NBR1_ENST00000341165.6_Missense_Mutation_p.T199I|NBR1_ENST00000389312.4_Missense_Mutation_p.T199I|NBR1_ENST00000542611.1_Missense_Mutation_p.T178I|NBR1_ENST00000590996.1_Missense_Mutation_p.T199I|NBR1_ENST00000589872.1_Missense_Mutation_p.T199I	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	199					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TCAATGCCTACTTCAGAAGAA	0.443000													55	28					0	0	0.00361006	0	0
SLC22A8	9376	broad.mit.edu	37	11	62761330	62761330	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:62761330C>T	ENST00000336232.2	-	9	1372	c.1237G>A	c.(1237-1239)Gta>Ata	p.V413I	SLC22A8_ENST00000311438.8_Missense_Mutation_p.V413I|SLC22A8_ENST00000535878.1_Missense_Mutation_p.V290I|SLC22A8_ENST00000430500.2_Missense_Mutation_p.V413I|SLC22A8_ENST00000545207.1_Missense_Mutation_p.V322I	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	413					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						ACAGCCAATACTGTCCTCACG	0.512000													19	26					0	0	0.00152264	0	0
OR56A3	390083	broad.mit.edu	37	11	5969509	5969509	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:5969509G>A	ENST00000329564.6	+	1	940	c.933G>A	c.(931-933)ttG>ttA	p.L311L		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGGTTGTTGAAGAAAGGGT	0.408000													7	32					0	0	0.00307968	0	0
SRBD1	55133	broad.mit.edu	37	2	45801820	45801820	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:45801820A>G	ENST00000263736.4	-	8	1177	c.1115T>C	c.(1114-1116)aTt>aCt	p.I372T		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	372					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			ATCTGCTAAAATATGCTGCAC	0.358000													11	85					0	0	0.000978159	0	0
DNAH8	1769	broad.mit.edu	37	6	38819443	38819443	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:38819443C>T	ENST00000359357.3	+	37	5062	c.4808C>T	c.(4807-4809)aCc>aTc	p.T1603I	DNAH8_ENST00000441566.1_Missense_Mutation_p.T1603I|DNAH8_ENST00000449981.2_Missense_Mutation_p.T1820I					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GATTCCCACACCATACAGGTA	0.368000													23	26					0	0	0.000720815	0	0
PDE1C	5137	broad.mit.edu	37	7	32209518	32209518	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:32209518C>T	ENST00000396193.1	-	3	780	c.187G>A	c.(187-189)Ggg>Agg	p.G63R		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TTGACATTCCCTGTGAGCCCA	0.517000													50	100					0	0	0.00361006	0	0
NLRP10	338322	broad.mit.edu	37	11	7981881	7981881	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:7981881G>A	ENST00000328600.2	-	2	1439	c.1278C>T	c.(1276-1278)ttC>ttT	p.F426F		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	426	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTTCAAATAGGAACCTCTGGT	0.542000													31	46					0	0	0.00283554	0	0
SLC44A5	204962	broad.mit.edu	37	1	75805306	75805306	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:75805306C>T	ENST00000370855.5	-	4	175	c.62G>A	c.(61-63)aGg>aAg	p.R21K	SLC44A5_ENST00000535611.1_5'UTR|SLC44A5_ENST00000370859.3_Missense_Mutation_p.R21K|SLC44A5_ENST00000469525.1_5'UTR	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	21						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GTCATATGTCCTTGGATCACC	0.323000													65	183					0	0	0.00361006	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74883552	74883552	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:74883552G>A	ENST00000289575.5	+	7	1305	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	SLCO2B1_ENST00000525650.1_Missense_Mutation_p.E160K|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.E77K|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.E77K|SLCO2B1_ENST00000526660.1_3'UTR|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.E282K|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.E188K|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.E49K	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	304					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	AATGCCCAAGGAAAAACGTGA	0.587000													36	29					0	0	0.00111076	0	0
SFRP4	6424	broad.mit.edu	37	7	37953977	37953977	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:37953977G>A	ENST00000436072.2	-	2	901	c.524C>T	c.(523-525)cCc>cTc	p.P175L	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	175					brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GAACTCACCGGGGCTTAGGCG	0.453000													36	55					0	0	0.00111076	0	0
TRPC4	7223	broad.mit.edu	37	13	38266406	38266406	+	Silent	SNP	T	T	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr13:38266406T>G	ENST00000379705.3	-	4	1821	c.964A>C	c.(964-966)Agg>Cgg	p.R322R	TRPC4_ENST00000379681.3_Silent_p.R322R|TRPC4_ENST00000379673.2_Silent_p.R322R|TRPC4_ENST00000358477.2_Silent_p.R322R|TRPC4_ENST00000447043.1_Silent_p.R322R|TRPC4_ENST00000379679.1_Silent_p.R149R|TRPC4_ENST00000426868.2_Silent_p.R322R|TRPC4_ENST00000355779.2_Silent_p.R322R|TRPC4_ENST00000338947.5_Silent_p.R149R			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	322					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TGTCTTCTCCTCCAGCCTGGA	0.463000													23	25					0	0	0.00332997	0	0
SIGLEC6	946	broad.mit.edu	37	19	52023378	52023378	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:52023378C>T	ENST00000346477.3	-	7	1340	c.1272G>A	c.(1270-1272)aaG>aaA	p.K424K	SIGLEC6_ENST00000391797.3_3'UTR|SIGLEC6_ENST00000436458.1_Silent_p.K388K|SIGLEC6_ENST00000343300.4_3'UTR|SIGLEC6_ENST00000425629.3_Silent_p.K440K|SIGLEC6_ENST00000359982.4_3'UTR|CTD-3073N11.9_ENST00000598220.1_RNA|SIGLEC6_ENST00000474054.1_5'UTR	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	440					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGTCGGTGACCTTTGGTTCCT	0.493000													32	69					0	0	0.00327116	0	0
LILRP2	79166	broad.mit.edu	37	19	55222108	55222108	+	RNA	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:55222108G>A	ENST00000413439.1	+	0	1635																											GCCCACGCGGGGACCTACAGG	0.627000													24	27					0	0	0.000878237	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32726754	32726754	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:32726754G>A	ENST00000435145.2	-	3	580	c.519C>T	c.(517-519)tcC>tcT	p.S173S	HLA-DQB2_ENST00000437316.2_Silent_p.S173S|HLA-DQB2_ENST00000411527.1_Silent_p.S173S			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	173					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						TCCTAATGAGGGAGGTGGACA	0.552000													16	7					0	0	0.000566183	0	0
ARSJ	79642	broad.mit.edu	37	4	114824378	114824378	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr4:114824378G>A	ENST00000315366.7	-	2	1718	c.852C>T	c.(850-852)tcC>tcT	p.S284S	ARSJ_ENST00000541197.1_Silent_p.S284S	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	284						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		TGTTGATAATGGATCGGTAGT	0.408000													43	18					0	0	0.00285205	0	0
RNF214	257160	broad.mit.edu	37	11	117152666	117152666	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:117152666C>T	ENST00000530849.1	+	10	937	c.927C>T	c.(925-927)ccC>ccT	p.P309P	RNF214_ENST00000531287.1_Silent_p.P309P|RNF214_ENST00000524917.1_Intron|RNF214_ENST00000531452.1_Silent_p.P464P|RNF214_ENST00000300650.4_Silent_p.P464P			Q8ND24	RN214_HUMAN	ring finger protein 214	464							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		CTCGGATGCCCTTCTCCATTG	0.552000													33	98					0	0	0.00375469	0	0
ITGA10	8515	broad.mit.edu	37	1	145533463	145533463	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:145533463C>T	ENST00000369304.3	+	12	1521	c.1346C>T	c.(1345-1347)tCt>tTt	p.S449F	ITGA10_ENST00000539363.1_Missense_Mutation_p.S306F|ITGA10_ENST00000538811.1_Missense_Mutation_p.S318F	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	449					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGTTTCTCTCTGGGGCTCCT	0.527000													26	68					0	0	0.000720815	0	0
BTBD9	114781	broad.mit.edu	37	6	38548061	38548061	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:38548061C>T	ENST00000481247.1	-	5	1118	c.967G>A	c.(967-969)Gag>Aag	p.E323K	BTBD9_ENST00000403056.1_Missense_Mutation_p.E323K|BTBD9_ENST00000408958.1_Missense_Mutation_p.E255K|BTBD9_ENST00000419706.2_Missense_Mutation_p.E264K|BTBD9_ENST00000314100.6_Missense_Mutation_p.E255K	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	323					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						AGCTTAATCTCGATGCCGGAA	0.423000													65	39					0	0	0.00361006	0	0
SERPINB2	5055	broad.mit.edu	37	18	61564405	61564405	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr18:61564405G>A	ENST00000457692.1	+	5	702	c.369G>A	c.(367-369)ctG>ctA	p.L123L	SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000299502.4_Silent_p.L123L	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	123					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	ATTATTTACTGGAAAGTGTCA	0.423000													8	38					0	0	0.000274275	0	0
BNC2	54796	broad.mit.edu	37	9	16437419	16437419	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:16437419A>C	ENST00000380672.4	-	6	830	c.773T>G	c.(772-774)gTg>gGg	p.V258G	BNC2_ENST00000380666.2_Missense_Mutation_p.V258G|BNC2_ENST00000545497.1_Missense_Mutation_p.V163G|BNC2_ENST00000380667.2_Missense_Mutation_p.V191G	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CATCAGCTCCACAATGGATTT	0.498000													38	8					0	0	0.00428921	0	0
USH2A	7399	broad.mit.edu	37	1	216348772	216348772	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:216348772G>A	ENST00000366943.2	-	21	4835	c.4449C>T	c.(4447-4449)atC>atT	p.I1483I	USH2A_ENST00000366942.3_Silent_p.I1483I|USH2A_ENST00000307340.3_Silent_p.I1483I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1483					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCTAAGATGGATTGTTGTGC	0.428000										HNSCC(13;0.011)			24	12					0	0	0.00278032	0	0
OR10G7	390265	broad.mit.edu	37	11	123908941	123908941	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:123908941G>A	ENST00000330487.5	-	1	776	c.768C>T	c.(766-768)ttC>ttT	p.F256F		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TCAGGTAAATGAAAAGACCAG	0.567000													21	30					0	0	0.000720815	0	0
MYOZ1	58529	broad.mit.edu	37	10	75393823	75393823	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr10:75393823C>T	ENST00000359322.4	-	5	867	c.502_splice	c.e5-1	p.G168_splice		NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN	myozenin 1	168	Gly-rich.				myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					TGCCTGGTCTCCTGGTAGCCA	0.483000													16	4					0	0	0.000958276	0	0
FBF1	85302	broad.mit.edu	37	17	73917558	73917558	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:73917558G>A	ENST00000586717.1	-	15	1841	c.1568C>T	c.(1567-1569)gCc>gTc	p.A523V	FBF1_ENST00000319129.5_Missense_Mutation_p.A522V|FBF1_ENST00000389570.4_Missense_Mutation_p.A523V			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	522										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						CAAACCAGTGGCTGAGAGGTC	0.547000													6	19					0	0	0.00116845	0	0
NLN	57486	broad.mit.edu	37	5	65088400	65088400	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:65088400G>T	ENST00000380985.5	+	9	1623	c.1445G>T	c.(1444-1446)gGt>gTt	p.G482V	NLN_ENST00000502464.1_Missense_Mutation_p.G378V	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	482					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		CCAGTGGCAGGTCGTCCCTCT	0.557000													41	31					2.95478e-19	8.33399e-19	0.00195071	1	0
SFRP4	6424	broad.mit.edu	37	7	37953976	37953976	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:37953976G>A	ENST00000436072.2	-	2	902	c.526_splice	c.e2+1	p.P175_splice	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	175					brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AGAACTCACCGGGGCTTAGGC	0.458000													36	56					0	0	0.00148497	0	0
ADAM22	53616	broad.mit.edu	37	7	87762205	87762205	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:87762205G>A	ENST00000398204.4	+	12	1339	c.1016G>A	c.(1015-1017)cGg>cAg	p.R339Q	ADAM22_ENST00000315984.7_Missense_Mutation_p.R339Q|ADAM22_ENST00000398201.4_Missense_Mutation_p.R339Q|ADAM22_ENST00000265727.7_Missense_Mutation_p.R339Q|ADAM22_ENST00000398209.3_Missense_Mutation_p.R339Q	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	339	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GAGAGTAGCCGGAGCGGGGCA	0.418000													20	73					0	0	0.00188189	0	0
SCN7A	6332	broad.mit.edu	37	2	167327215	167327215	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:167327215C>T	ENST00000409855.1	-	6	700	c.572_splice	c.e6-1	p.V192_splice		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	192					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CTTATAATAACCCTGTGGAAT	0.279000													10	15					0	0	0.000673444	0	0
SRRM1	10250	broad.mit.edu	37	1	24998753	24998753	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:24998753G>A	ENST00000323848.9	+	17	3006	c.2691G>A	c.(2689-2691)aaG>aaA	p.K897K	SRRM1_ENST00000447431.2_Silent_p.K909K|SRRM1_ENST00000374389.4_Silent_p.K906K	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	897					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CAATGAGGAAGGCCCAAGTGT	0.373000													5	8					0	0	0.00116845	0	0
KRTAP4-5	85289	broad.mit.edu	37	17	39305735	39305735	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:39305735G>A	ENST00000343246.4	-	1	319	c.285C>T	c.(283-285)tgC>tgT	p.C95C		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	100	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			tggggcagcagcaggtggtcc	0.657000													16	7					0	0	0.000566183	0	0
DNAH7	56171	broad.mit.edu	37	2	196749481	196749481	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:196749481T>A	ENST00000312428.6	-	35	5691	c.5591A>T	c.(5590-5592)gAt>gTt	p.D1864V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1864					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAATCGATCATCATCTGTACA	0.338000													10	21					0	0	0.000978159	0	0
FLVCR1	28982	broad.mit.edu	37	1	213037186	213037186	+	Silent	SNP	A	A	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:213037186A>G	ENST00000366971.4	+	2	1056	c.858A>G	c.(856-858)acA>acG	p.T286T		NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	286					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		CTGTTGCCACACTTTTATTTA	0.338000													13	41					0	0	0.00136819	0	0
DENND4A	10260	broad.mit.edu	37	15	65962220	65962220	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:65962220G>A	ENST00000443035.3	-	27	4896	c.4681C>T	c.(4681-4683)Cca>Tca	p.P1561S	DENND4A_ENST00000431932.2_Missense_Mutation_p.P1518S	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1518					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						ATGGAGGATGGAAAGTGCATA	0.388000													21	13					0	0	0.00278032	0	0
TRANK1	9881	broad.mit.edu	37	3	36899020	36899020	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:36899020G>A	ENST00000301807.6	-	12	2308	c.411C>T	c.(409-411)tgC>tgT	p.C137C	TRANK1_ENST00000429976.2_Silent_p.C687C|TRANK1_ENST00000428977.2_Silent_p.C137C	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	687					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCTGCATAAGGCAGTCTCTCA	0.572000													7	9					0	0	0.00198382	0	0
TTC21B	79809	broad.mit.edu	37	2	166805994	166805994	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:166805994G>A	ENST00000243344.7	-	3	309	c.172C>T	c.(172-174)Cga>Tga	p.R58*	AC010127.5_ENST00000440322.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	58						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TCAAATTCTCGAAGAGCTTCT	0.308000													41	81					0	0	0.00195071	0	0
PDZD4	57595	broad.mit.edu	37	X	153069032	153069032	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chrX:153069032C>T	ENST00000164640.4	-	8	2277	c.2086G>A	c.(2086-2088)Gag>Aag	p.E696K	PDZD4_ENST00000393758.2_Missense_Mutation_p.E621K|PDZD4_ENST00000544474.1_Missense_Mutation_p.E587K	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	696						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATCATGAACTCGCGCCGCTTC	0.637000													19	12					0	0	0.00229938	0	0
ABCG8	64241	broad.mit.edu	37	2	44099211	44099211	+	Missense_Mutation	SNP	G	G	T	rs142346631		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:44099211G>T	ENST00000272286.2	+	7	1151	c.1061G>T	c.(1060-1062)cGt>cTt	p.R354L		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	354					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GAAAAAGTGCGTGACTTAGAT	0.542000													178	245					4.54229e-91	1.29569e-90	0.00361006	1	0
PRPS1L1	221823	broad.mit.edu	37	7	18067301	18067301	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:18067301G>A	ENST00000506618.2	-	1	185	c.105C>T	c.(103-105)ttC>ttT	p.F35F		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	35					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CCTGGTTGCTGAATTTCTTAG	0.507000													107	123					0	0	0.00361006	0	0
CACNA1E	777	broad.mit.edu	37	1	181767712	181767712	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:181767712C>T	ENST00000526775.1	+	46	6663	c.6498C>T	c.(6496-6498)atC>atT	p.I2166I	CACNA1E_ENST00000360108.3_Silent_p.I2209I|CACNA1E_ENST00000367567.4_Silent_p.I1792I|CACNA1E_ENST00000367573.2_Silent_p.I2228I|CACNA1E_ENST00000357570.5_Silent_p.I2179I|CACNA1E_ENST00000367570.1_Silent_p.I2185I|CACNA1E_ENST00000358338.5_Silent_p.I2117I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2228					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGCGCTACATCTCCGAGCCCT	0.612000													17	7					0	0	0.000566183	0	0
HCFC1	3054	broad.mit.edu	37	X	153219097	153219097	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chrX:153219097G>A	ENST00000310441.7	-	18	5424	c.4458C>T	c.(4456-4458)acC>acT	p.T1486T	HCFC1_ENST00000369984.4_Silent_p.T1486T|HCFC1_ENST00000354233.3_Silent_p.T1417T	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1486					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTGCGTCACGGTGGTCACAG	0.672000													11	12					0	0	0.00185496	0	0
PLD3	23646	broad.mit.edu	37	19	40883999	40883999	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:40883999C>T	ENST00000409587.1	+	13	1789	c.1392C>T	c.(1390-1392)ttC>ttT	p.F464F	PLD3_ENST00000409419.1_Silent_p.F464F|PLD3_ENST00000409735.4_Silent_p.F464F|PLD3_ENST00000356508.5_Silent_p.F464F|PLD3_ENST00000409281.1_Silent_p.F464F			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	464					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding	p.F411F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			AGGCCATTTTCCTGAGGGACT	0.652000													45	72					0	0	0.00361006	0	0
COL6A2	1292	broad.mit.edu	37	21	47532027	47532027	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr21:47532027G>A	ENST00000300527.4	+	3	354	c.250G>A	c.(250-252)Gag>Aag	p.E84K	COL6A2_ENST00000397763.1_Missense_Mutation_p.E84K|COL6A2_ENST00000357838.4_Missense_Mutation_p.E84K|COL6A2_ENST00000409416.1_Missense_Mutation_p.E84K|COL6A2_ENST00000310645.5_Missense_Mutation_p.E84K	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	84	Nonhelical region.|VWFA 1.				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)		GCTGCAGAACGAGTTCTACCT	0.642000													20	8					0	0	0.00229938	0	0
WDR65	149465	broad.mit.edu	37	1	43675567	43675567	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:43675567C>T	ENST00000372492.4	+	11	2233	c.1909C>T	c.(1909-1911)Cat>Tat	p.H637Y	WDR65_ENST00000528956.1_Missense_Mutation_p.H637Y	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	637										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTACCAGGCCCATGCCGGTCC	0.572000													10	32					0	0	0.000442599	0	0
CEACAM6	4680	broad.mit.edu	37	19	42265353	42265353	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:42265353G>A	ENST00000199764.6	+	3	839	c.621G>A	c.(619-621)agG>agA	p.R207R	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	207	Ig-like C2-type 1.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		GCGTCAAAAGGAACGATGCAG	0.532000													52	62					0	0	0.00361006	0	0
GNMT	27232	broad.mit.edu	37	6	42931339	42931339	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:42931339C>T	ENST00000372808.3	+	6	793	c.783C>T	c.(781-783)ttC>ttT	p.F261F		NM_018960.4	NP_061833.1	Q14749	GNMT_HUMAN	glycine N-methyltransferase	261					protein homotetramerization|protein modification process|S-adenosylmethionine metabolic process		folic acid binding|glycine binding|glycine N-methyltransferase activity			kidney(2)|large_intestine(1)|lung(1)	4	Colorectal(47;0.196)		all cancers(41;0.00196)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0461)		Glycine(DB00145)|S-Adenosylmethionine(DB00118)	AAGCAGCCTTCGGAGGTAAGT	0.567000													23	59					0	0	0.00332997	0	0
SPNS3	201305	broad.mit.edu	37	17	4391118	4391118	+	Missense_Mutation	SNP	G	G	A	rs143122022		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:4391118G>A	ENST00000355530.2	+	12	1748	c.1468G>A	c.(1468-1470)Gat>Aat	p.D490N	SPNS3_ENST00000333476.2_Missense_Mutation_p.D363N	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	490					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						AGACAGCAATGATGTGGACAG	0.627000													14	74					0	0	0.00121646	0	0
GABRG3	2567	broad.mit.edu	37	15	27777818	27777818	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:27777818G>A	ENST00000333743.6	+	10	1449	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	399					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		TTACTGGCAGGAATTTGAAGA	0.443000													16	20					0	0	0.00316338	0	0
ALMS1	7840	broad.mit.edu	37	2	73646294	73646294	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:73646294C>T	ENST00000264448.6	+	3	605	c.494C>T	c.(493-495)tCc>tTc	p.S165F	ALMS1_ENST00000377715.1_Missense_Mutation_p.S165F|ALMS1_ENST00000409009.1_Missense_Mutation_p.S123F	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	165					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ATGGACTCTTCCCAAACCTTG	0.398000													27	41					0	0	0.000720815	0	0
MEF2C	4208	broad.mit.edu	37	5	88056893	88056893	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:88056893G>A	ENST00000340208.5	-	6	773	c.368C>T	c.(367-369)tCc>tTc	p.S123F	MEF2C_ENST00000437473.2_Intron|MEF2C_ENST00000503554.1_Intron|MEF2C_ENST00000506554.1_Intron|MEF2C_ENST00000514028.1_Intron|MEF2C_ENST00000539796.1_Intron|MEF2C_ENST00000504921.2_Intron|MEF2C_ENST00000510942.1_Intron|MEF2C_ENST00000424173.2_Missense_Mutation_p.S103F|MEF2C_ENST00000508569.1_Intron|MEF2C_ENST00000514015.1_Intron	NM_001193347.1	NP_001180276.1	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	105					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TGCATAAGAGGAGTCGGGATC	0.368000										HNSCC(66;0.2)			23	68					0	0	0.00278032	0	0
TMEM151A	256472	broad.mit.edu	37	11	66062587	66062587	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:66062587C>T	ENST00000327259.4	+	2	1014	c.870C>T	c.(868-870)ctC>ctT	p.L290L		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	290						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						TCTTCTGGCTCGTGTCGGCGG	0.692000													6	10					0	0	0.00198382	0	0
DNAH8	1769	broad.mit.edu	37	6	38854603	38854603	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:38854603G>T	ENST00000359357.3	+	55	7899	c.7645G>T	c.(7645-7647)Gaa>Taa	p.E2549*	DNAH8_ENST00000441566.1_Nonsense_Mutation_p.E2513*|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.E2766*					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GATGGAAATGGAAGGAATGTA	0.388000													19	67					3.62473e-10	1.00782e-09	0.00188189	1	0
LILRB5	10990	broad.mit.edu	37	19	54759924	54759924	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:54759924G>A	ENST00000450632.1	-	4	687	c.610C>T	c.(610-612)Ctg>Ttg	p.L204L	LILRB5_ENST00000316219.5_Silent_p.L213L|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Silent_p.L213L			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	213	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGAATCTCCAGGAGGTCACTG	0.502000													31	32					0	0	0.00111076	0	0
ATP8B4	79895	broad.mit.edu	37	15	50152602	50152602	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:50152602G>A	ENST00000284509.6	-	28	3509	c.3368C>T	c.(3367-3369)tCa>tTa	p.S1123L	ATP8B4_ENST00000559829.1_Missense_Mutation_p.S1123L	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1123					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TCTTGAGCTTGACCTGCGGGT	0.512000													17	30					0	0	0.00400662	0	0
TBPL2	387332	broad.mit.edu	37	14	55881145	55881145	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr14:55881145T>A	ENST00000247219.5	-	7	1150	c.1080A>T	c.(1078-1080)gaA>gaT	p.E360D		NM_199047.2	NP_950248.1	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	360					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						TTTCAAATGCTTCATAGATCT	0.294000													13	7					0	0	0.00244969	0	0
CLEC18B	497190	broad.mit.edu	37	16	74447022	74447022	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr16:74447022G>A	ENST00000339953.5	-	5	710	c.589C>T	c.(589-591)Ccc>Tcc	p.P197S		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	197						extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTCTTATAGGGGATGATTGTC	0.617000													33	53					0	0	0.0024448	0	0
SMPD3	55512	broad.mit.edu	37	16	68405050	68405050	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr16:68405050G>A	ENST00000219334.5	-	3	1638	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	SMPD3_ENST00000563226.1_Silent_p.F345F|SMPD3_ENST00000568373.1_Silent_p.F345F	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	345					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CCTCATGGTCGAAGGCCTCGT	0.632000													23	25					0	0	0.00278032	0	0
TMEM18	129787	broad.mit.edu	37	2	677331	677331	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:677331G>A	ENST00000281017.3	-	1	108	c.15C>T	c.(13-15)ttC>ttT	p.F5F	AC092159.2_ENST00000445418.1_RNA	NM_152834.2	NP_690047.2	Q96B42	TMM18_HUMAN	transmembrane protein 18	5					cell migration	integral to membrane|nuclear membrane				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		AGCTGACAGAGAAGGCGGACG	0.652000													8	20					0	0	0.000274275	0	0
F5	2153	broad.mit.edu	37	1	169510779	169510779	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:169510779C>T	ENST00000367796.3	-	13	3765	c.3564G>A	c.(3562-3564)caG>caA	p.Q1188Q	F5_ENST00000367797.3_Silent_p.Q1183Q			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1183	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AGATGACTGTCTGCCAGACTT	0.517000													96	66					0	0	0.00361006	0	0
OR10P1	121130	broad.mit.edu	37	12	56031264	56031264	+	Missense_Mutation	SNP	G	G	A	rs141032808	byFrequency	TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:56031264G>A	ENST00000309675.2	+	1	621	c.589G>A	c.(589-591)Gag>Aag	p.E197K		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						GCACAGGAGCGAGATCTCCGT	0.532000													35	7					0	0	0.00283554	0	0
KRT26	353288	broad.mit.edu	37	17	38926625	38926625	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:38926625C>T	ENST00000335552.4	-	3	609	c.561G>A	c.(559-561)gaG>gaA	p.E187E		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	187	Coil 1B.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				TGGTGTCGGCCTCAACACTGT	0.488000													29	12					0	0	0.00178596	0	0
DNAH10	196385	broad.mit.edu	37	12	124319983	124319983	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:124319983T>C	ENST00000409039.3	+	27	4481	c.4456T>C	c.(4456-4458)Tat>Cat	p.Y1486H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1486	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAAATGGATGTATCTTGAAAG	0.383000													9	8					0	0	0.000274275	0	0
SH2B3	10019	broad.mit.edu	37	12	111884982	111884982	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:111884982C>T	ENST00000341259.2	+	5	1337	c.980C>T	c.(979-981)aCg>aTg	p.T327M	SH2B3_ENST00000538307.1_Missense_Mutation_p.T125M	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	327					blood coagulation	cytosol	signal transducer activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						GAGCCTAGCACGTCCAGCTCC	0.567000													20	30					0	0	0.00121646	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125262049	125262049	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:125262049G>A	ENST00000431078.1	+	8	1604	c.1240G>A	c.(1240-1242)Gga>Aga	p.G414R		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	414	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGAGGGCTCGGGAACCCTGCT	0.542000													20	39					0	0	0.00152264	0	0
IL11RA	3590	broad.mit.edu	37	9	34660894	34660894	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:34660894G>A	ENST00000555003.1	+	12	2569	c.1213G>A	c.(1213-1215)Ggg>Agg	p.G405R	IL11RA_ENST00000441545.2_Missense_Mutation_p.G405R|IL11RA_ENST00000318041.9_Missense_Mutation_p.G405R			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	405						integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	CCCAAAGCCTGGGTTCTTGGC	0.547000													40	97					0	0	0.0025221	0	0
KCNB1	3745	broad.mit.edu	37	20	47991005	47991005	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr20:47991005G>A	ENST00000371741.4	-	2	1258	c.1092C>T	c.(1090-1092)atC>atT	p.I364I		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	364					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AAGAGGCTGGGATGCTTTTGA	0.512000													40	32					0	0	0.00321405	0	0
PCDH8	5100	broad.mit.edu	37	13	53422301	53422301	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr13:53422301C>T	ENST00000377942.3	-	1	474	c.271G>A	c.(271-273)Gac>Aac	p.D91N	PCDH8_ENST00000338862.4_Missense_Mutation_p.D91N	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	91	Cadherin 1.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CGCTCGCGGTCCAGGCCGGCG	0.662000													26	6					0	0	0.00395357	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698891	17698891	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:17698891C>T	ENST00000399080.2	-	1	815	c.792G>A	c.(790-792)atG>atA	p.M264I		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	264										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TATTTAAGTCCATTGGAAACT	0.348000													26	26					0	0	0.00395357	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140308819	140308819	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:140308819G>A	ENST00000253807.2	+	1	2342	c.2342G>A	c.(2341-2343)cGa>cAa	p.R781Q	PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R781Q|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGACCTGCGAAATCTTGCC	0.468000													30	24					0	0	0.00127121	0	0
FUT9	10690	broad.mit.edu	37	6	96651759	96651759	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:96651759C>T	ENST00000302103.5	+	3	1054	c.728C>T	c.(727-729)tCc>tTc	p.S243F		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	243					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TTTTATCTTTCCTTTGAAAAT	0.368000													9	4					0	0	0.000274275	0	0
EMR1	2015	broad.mit.edu	37	19	6919730	6919730	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:6919730C>T	ENST00000312053.4	+	13	1629	c.1592C>T	c.(1591-1593)cCa>cTa	p.P531L	EMR1_ENST00000381407.5_Missense_Mutation_p.P390L|EMR1_ENST00000381404.4_Missense_Mutation_p.P479L|EMR1_ENST00000450315.3_Missense_Mutation_p.P354L|EMR1_ENST00000250572.8_Missense_Mutation_p.P531L	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	531	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TTCTCAGATCCAATCATCTAC	0.478000													22	56					0	0	0.00188189	0	0
ZNF831	128611	broad.mit.edu	37	20	57768817	57768817	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr20:57768817G>A	ENST00000371030.2	+	1	2743	c.2743G>A	c.(2743-2745)Gag>Aag	p.E915K		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	915						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGCCCCCGCAGAGCACCCCTC	0.637000													22	20					0	0	0.00229938	0	0
LILRP2	79166	broad.mit.edu	37	19	55222279	55222279	+	RNA	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:55222279G>A	ENST00000413439.1	+	0	1718																											GGAAAGAGGGGAGTAAAGGGG	0.627000													8	11					0	0	0.00307968	0	0
CRTAM	56253	broad.mit.edu	37	11	122722418	122722418	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:122722418T>C	ENST00000227348.4	+	3	258	c.211T>C	c.(211-213)Tac>Cac	p.Y71H		NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	71	Ig-like V-type.				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		AAATTCCAAATACCAGCTTCT	0.453000													26	51					0	0	0.00178596	0	0
MUC16	94025	broad.mit.edu	37	19	9064399	9064399	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:9064399C>T	ENST00000397910.4	-	3	23250	c.23047G>A	c.(23047-23049)Gaa>Aaa	p.E7683K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7685	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGCTGGTTTCTTTCACAAAG	0.552000													19	15					0	0	0.00152264	0	0
ADCK2	90956	broad.mit.edu	37	7	140373218	140373218	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:140373218C>T	ENST00000072869.4	+	1	266	c.88C>T	c.(88-90)Ccc>Tcc	p.P30S	ADCK2_ENST00000476491.1_Missense_Mutation_p.P30S	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	30						integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CCTCCTGAGGCCCTCCGAGTG	0.687000													18	7					0	0	0.000958276	0	0
ATRX	546	broad.mit.edu	37	X	76938144	76938144	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chrX:76938144C>T	ENST00000373344.5	-	9	2818	c.2604G>A	c.(2602-2604)ttG>ttA	p.L868L	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.L830L	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	868					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GTGAGGTCTTCAAATTTTTGT	0.373000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						47	116					0	0	0.00361006	0	0
CEP350	9857	broad.mit.edu	37	1	180062821	180062821	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:180062821C>T	ENST00000367607.3	+	34	7999	c.7581C>T	c.(7579-7581)gcC>gcT	p.A2527A	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2527	CAP-Gly.					centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GATTTTGGGCCGGAGTGGAGT	0.383000													16	52					0	0	0.00316338	0	0
PCDH1	5097	broad.mit.edu	37	5	141242728	141242728	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:141242728G>A	ENST00000394536.3	-	3	3307	c.3168C>T	c.(3166-3168)acC>acT	p.T1056T	PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000536585.1_Silent_p.T1034T|PCDH1_ENST00000456271.1_Silent_p.T1044T|PCDH1_ENST00000287008.3_Intron|PCDH1_ENST00000503492.1_Intron	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	1056					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CCCACACCTCGGTCCAGATGG	0.657000													7	5					0	0	0.00307968	0	0
KCTD13	253980	broad.mit.edu	37	16	29937338	29937338	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr16:29937338G>A	ENST00000568000.1	-	1	1018	c.17C>T	c.(16-18)tCg>tTg	p.S6L	KCTD13_ENST00000561540.1_Missense_Mutation_p.S6L|KCTD13_ENST00000568721.1_5'UTR	NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	6					cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						AGCCGGGCCCGAGGCCTCCGC	0.771000													10	0					0	0	0.000673444	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720640	140720640	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:140720640C>T	ENST00000394576.2	+	1	2102	c.2102C>T	c.(2101-2103)tCc>tTc	p.S701F	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCGGTCTCCTGCGTCTTC	0.662000													50	57					0	0	0.00361006	0	0
POF1B	79983	broad.mit.edu	37	X	84560826	84560826	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chrX:84560826C>T	ENST00000262753.4	-	13	1553	c.1408G>A	c.(1408-1410)Gag>Aag	p.E470K	POF1B_ENST00000373145.3_Missense_Mutation_p.E470K	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	470							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CTATCTTTCTCCATTCTCAAG	0.423000													19	13					0	0	0.000958276	0	0
PATE1	160065	broad.mit.edu	37	11	125617666	125617666	+	Missense_Mutation	SNP	A	A	T	rs149639744	byFrequency	TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:125617666A>T	ENST00000305738.5	+	4	208	c.196A>T	c.(196-198)Ata>Tta	p.I66L	PATE1_ENST00000437148.2_Missense_Mutation_p.I54L	NM_138294.2	NP_612151.1	Q8WXA2	PATE1_HUMAN	prostate and testis expressed 1	66						extracellular region				large_intestine(1)|lung(5)	6						AGGAAGAGGAATATGCACAGC	0.488000													32	38					0	0	0.00178596	0	0
ANGPT1	284	broad.mit.edu	37	8	108334269	108334269	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:108334269G>A	ENST00000520734.1	-	3	348	c.63C>T	c.(61-63)ggC>ggT	p.G21G	ANGPT1_ENST00000520052.1_Silent_p.G21G			Q15389	ANGP1_HUMAN	angiopoietin 1	221					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	p.G221G(1)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GAGTAACCAAGCCTTGAAGGT	0.398000													23	27					0	0	0.00229938	0	0
CROCC	9696	broad.mit.edu	37	1	17292504	17292504	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:17292504G>C	ENST00000375541.5	+	29	4655	c.4586G>C	c.(4585-4587)cGg>cCg	p.R1529P		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1529					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GACGAACTTCGGACCCAGACC	0.647000													11	28					0	0	0.00136819	0	0
TBATA	219793	broad.mit.edu	37	10	72533991	72533991	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr10:72533991C>A	ENST00000299290.1	-	9	1284	c.895G>T	c.(895-897)Gag>Tag	p.E299*	TBATA_ENST00000456372.2_3'UTR	NM_152710.2	NP_689923.2			thymus, brain and testes associated																		TCTTGCTTCTCTTGAGGAGGT	0.622000													21	11					3.28513e-13	9.1775e-13	0.00395357	1	0
METTL25	84190	broad.mit.edu	37	12	82796892	82796892	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:82796892T>A	ENST00000248306.3	+	5	1331	c.1262T>A	c.(1261-1263)tTt>tAt	p.F421Y	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2			methyltransferase like 25																		TCTGAAGAATTTGAAAACCAG	0.368000													20	8					0	0	0.00332997	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44506998	44506998	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr20:44506998C>T	ENST00000255152.2	+	2	2010	c.1801C>T	c.(1801-1803)Cgt>Tgt	p.R601C	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.R595C	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	601							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GCTCCAGGATCGTGGTATGGT	0.587000													17	36					0	0	0.00400662	0	0
HCCAT5	283902	broad.mit.edu	37	16	73126985	73126985	+	RNA	SNP	C	C	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr16:73126985C>G	ENST00000569990.2	+	0	643					NR_027756.1																						CCCAGAGATCCCTTCATTCTT	0.463000													16	44					0	0	0.00400662	0	0
PLEC	5339	broad.mit.edu	37	8	145006632	145006632	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:145006632T>A	ENST00000322810.4	-	16	2493	c.2324A>T	c.(2323-2325)gAg>gTg	p.E775V	PLEC_ENST00000398774.2_Missense_Mutation_p.E606V|PLEC_ENST00000436759.2_Missense_Mutation_p.E665V|PLEC_ENST00000354589.3_Missense_Mutation_p.E638V|PLEC_ENST00000345136.3_Missense_Mutation_p.E638V|PLEC_ENST00000354958.2_Missense_Mutation_p.E616V|PLEC_ENST00000356346.3_Missense_Mutation_p.E624V|PLEC_ENST00000357649.2_Missense_Mutation_p.E642V|PLEC_ENST00000527096.1_Missense_Mutation_p.E661V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	775	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCCACCTCCTCCTCCTCCTT	0.617000													25	26					0	0	0.00106085	0	0
PIGO	84720	broad.mit.edu	37	9	35092248	35092248	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:35092248G>A	ENST00000378617.3	-	7	2030	c.1636C>T	c.(1636-1638)Cct>Tct	p.P546S	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.P546S|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	546					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ACGGGCCCAGGGATGGGAAAC	0.587000													13	28					0	0	0.00185496	0	0
TAF1L	138474	broad.mit.edu	37	9	32632950	32632950	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:32632950C>T	ENST00000242310.4	-	1	2717	c.2628G>A	c.(2626-2628)atG>atA	p.M876I		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	876					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGTTTGAATCCATCCCTGTGC	0.453000													49	23					0	0	0.00361006	0	0
MROH7	374977	broad.mit.edu	37	1	55172122	55172122	+	Silent	SNP	A	A	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:55172122A>G	ENST00000414150.2	+	22	3857	c.3579A>G	c.(3577-3579)cgA>cgG	p.R1193R	MROH7_ENST00000409996.1_Silent_p.R761R|MROH7_ENST00000454855.2_Silent_p.R711R|MROH7_ENST00000421030.2_Silent_p.R1193R					maestro heat-like repeat family member 7																		ACACCCACCGAGACAGCGCCT	0.542000													7	81					0	0	0.000274275	0	0
MPO	4353	broad.mit.edu	37	17	56357233	56357233	+	Missense_Mutation	SNP	G	G	A	rs147998181	by1000genomes	TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:56357233G>A	ENST00000340482.3	-	3	567	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	MPO_ENST00000225275.3_Missense_Mutation_p.R131W			P05164	PERM_HUMAN	myeloperoxidase	131					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CACAGGGACCGCAGCTTCCTC	0.622000													20	23					0	0	0.00278032	0	0
TNFRSF8	943	broad.mit.edu	37	1	12164568	12164568	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:12164568G>A	ENST00000263932.2	+	4	623	c.401G>A	c.(400-402)gGg>gAg	p.G134E	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.G23E	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	134					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCCGGCAGGGATGATTGTC	0.572000													14	5					0	0	0.00400662	0	0
LRSAM1	90678	broad.mit.edu	37	9	130263419	130263419	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:130263419G>A	ENST00000323301.4	+	24	2647	c.2043G>A	c.(2041-2043)cgG>cgA	p.R681R	LRSAM1_ENST00000373322.1_Silent_p.R681R|LRSAM1_ENST00000373324.4_Silent_p.R654R|LRSAM1_ENST00000300417.6_Silent_p.R681R|LRSAM1_ENST00000483302.1_3'UTR	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	681					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GCCTGGAACGGGAGGTAAGTC	0.647000													7	11					0	0	0.000274275	0	0
TTN	7273	broad.mit.edu	37	2	179646988	179646988	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:179646988G>A	ENST00000589042.1	-	20	3555	c.3331C>T	c.(3331-3333)Ccc>Tcc	p.P1111S	TTN_ENST00000591111.1_Missense_Mutation_p.P1111S|TTN_ENST00000359218.5_Missense_Mutation_p.P1065S|TTN_ENST00000342992.6_Missense_Mutation_p.P1111S|TTN_ENST00000460472.2_Missense_Mutation_p.P1065S|TTN_ENST00000360870.5_Missense_Mutation_p.P1111S|TTN_ENST00000342175.6_Missense_Mutation_p.P1065S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1111	Ig-like 4.						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)			TATACATGGGGCTTTGGGTTG	0.463000													24	47					0	0	0.000720815	0	0
POU5F1B	5462	broad.mit.edu	37	8	128429055	128429055	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:128429055C>T	ENST00000465342.2	+	2	2101	c.944C>T	c.(943-945)cCa>cTa	p.P315L	CASC8_ENST00000502082.1_RNA|CASC8_ENST00000523825.1_RNA|CASC8_ENST00000501396.1_RNA|POU5F1B_ENST00000391675.1_Missense_Mutation_p.P315L			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	315						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						CCTCCGGCCCCAGGGCCCCAT	0.587000													3	5					0	0	0.00024832	0	0
KIAA0319	9856	broad.mit.edu	37	6	24551677	24551677	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:24551677G>A	ENST00000535378.1	-	21	3640	c.2998C>T	c.(2998-3000)Ctg>Ttg	p.L1000L	KIAA0319_ENST00000543707.1_Silent_p.L1009L|KIAA0319_ENST00000378214.3_Silent_p.L1009L|KIAA0319_ENST00000537886.1_Intron|KIAA0319_ENST00000430948.2_Silent_p.L964L	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	1009					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TTGGGCCTCAGTTCCATTCTT	0.413000													21	14					0	0	0.00332997	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			22	11					0	0	0.00229938	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45501879	45501879	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:45501879C>T	ENST00000359600.5	-	9	2192	c.1987G>A	c.(1987-1989)Gaa>Aaa	p.E663K		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	663							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AGTGCAACTTCCAGGGCCAAT	0.552000													25	22					0	0	0.00278032	0	0
IDO2	169355	broad.mit.edu	37	8	39872818	39872818	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:39872818C>T	ENST00000502986.2	+	11	1202	c.960C>T	c.(958-960)ttC>ttT	p.F320F	IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000389060.4_Silent_p.F307F	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	307					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						ATAAGGCCTTCATAGAAGACA	0.473000													13	27					0	0	0.00316338	0	0
BAHD1	22893	broad.mit.edu	37	15	40757536	40757536	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:40757536C>T	ENST00000561234.1	+	6	2311	c.2052C>T	c.(2050-2052)ccC>ccT	p.P684P	BAHD1_ENST00000416165.1_Silent_p.P685P|BAHD1_ENST00000560846.1_Intron|RP11-64K12.8_ENST00000559730.1_RNA			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	685	BAH.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCTTTGAGCCCTTGCAGAATG	0.542000													17	33					0	0	0.00121646	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106680916	106680916	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:106680916G>A	ENST00000526355.1	-	5	1963	c.1495C>T	c.(1495-1497)Cct>Tct	p.P499S	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.P499S|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.P520S	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	499					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		ACATCACCAGGGAAAATAGAA	0.423000													17	46					0	0	0.000566183	0	0
DMXL2	23312	broad.mit.edu	37	15	51763564	51763564	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:51763564G>A	ENST00000251076.5	-	29	7532	c.7245C>T	c.(7243-7245)caC>caT	p.H2415H	DMXL2_ENST00000449909.3_Silent_p.H1779H|DMXL2_ENST00000543779.2_Silent_p.H2416H|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2415						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATCTCCTACGGTGTTTATCTA	0.393000													51	44					0	0	0.00361006	0	0
FBXL2	25827	broad.mit.edu	37	3	33400835	33400835	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:33400835C>T	ENST00000484457.1	+	4	272	c.181C>T	c.(181-183)Caa>Taa	p.Q61*	FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000538892.1_Nonsense_Mutation_p.Q61*|FBXL2_ENST00000507198.1_Nonsense_Mutation_p.Q61*|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000538181.1_Intron|FBXL2_ENST00000446237.3_5'UTR	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	61					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						TTTTAACTTTCAAACAGATGT	0.378000													5	23					0	0	0.000602214	0	0
ZNF71	58491	broad.mit.edu	37	19	57133208	57133208	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:57133208C>T	ENST00000328070.6	+	3	787	c.553C>T	c.(553-555)Ccc>Tcc	p.P185S		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	185						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GGGCGAGAAGCCCTATGCCTG	0.632000													15	16					0	0	0.000566183	0	0
SAMD9	54809	broad.mit.edu	37	7	92731141	92731141	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:92731141G>T	ENST00000379958.2	-	3	4539	c.4270C>A	c.(4270-4272)Ctg>Atg	p.L1424M		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1424						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGATAAGTCAGTCCTATTGGT	0.388000													10	97					5.50884e-06	1.51021e-05	0.00136819	1	0
CALB1	793	broad.mit.edu	37	8	91081277	91081277	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:91081277C>T	ENST00000265431.3	-	5	502	c.321G>A	c.(319-321)tgG>tgA	p.W107*	CALB1_ENST00000518457.1_Nonsense_Mutation_p.W50*	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	107	EF-hand 3.					nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CATATTTTCTCCATGTCTGTA	0.323000													13	14					0	0	0.00400662	0	0
TTN	7273	broad.mit.edu	37	2	179587192	179587192	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:179587192C>T	ENST00000589042.1	-	77	22546	c.22322G>A	c.(22321-22323)cGa>cAa	p.R7441Q	TTN_ENST00000591111.1_Missense_Mutation_p.R7124Q|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R6197Q|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7124	Ig-like 56.			S -> N (in Ref. 1; CAA62189).			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R6197Q(1)		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)			GCCATTTAATCGACAAGTGAG	0.418000													45	79					0	0	0.00321405	0	0
PTEN	5728	broad.mit.edu	37	10	89720664	89720664	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr10:89720664A>G	ENST00000371953.3	+	8	2172	c.815A>G	c.(814-816)cAc>cGc	p.H272R	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	272	C2 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.R55fs*1(5)|p.?(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.H272R(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)		AAAATGTTTCACTTTTGGGTA	0.269000		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)			6	2					0	0	0.00307968	0	0
DYDC2	84332	broad.mit.edu	37	10	82126485	82126485	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr10:82126485C>T	ENST00000372199.1	+	6	910	c.312C>T	c.(310-312)ttC>ttT	p.F104F	DYDC2_ENST00000372197.1_Silent_p.F104F|DYDC2_ENST00000256039.2_Silent_p.F104F|DYDC2_ENST00000372198.1_Silent_p.F118F|DYDC2_ENST00000444807.2_Silent_p.F104F			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	104							protein binding			breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			AGACCATATTCATGCAGGAGG	0.433000													64	16					0	0	0.00361006	0	0
KIAA1257	57501	broad.mit.edu	37	3	128706545	128706545	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:128706545G>A	ENST00000265068.5	-	4	748	c.581C>T	c.(580-582)aCt>aTt	p.T194I	KIAA1257_ENST00000511438.1_Missense_Mutation_p.T194I|KIAA1257_ENST00000515659.1_Missense_Mutation_p.T82I|KIAA1257_ENST00000510149.1_5'UTR	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	194										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CTTGTCTTTAGTGTTCCAGAG	0.403000													6	86					0	0	0.00116845	0	0
RAVER2	55225	broad.mit.edu	37	1	65243530	65243530	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:65243530C>T	ENST00000294428.3	+	3	619	c.541C>T	c.(541-543)Cat>Tat	p.H181Y	RAVER2_ENST00000371072.4_Missense_Mutation_p.H181Y			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	181	RRM 2.					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						AGTTACTGGCCATTCCAAAGG	0.413000													55	43					0	0	0.00361006	0	0
APCS	325	broad.mit.edu	37	1	159558295	159558295	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:159558295G>A	ENST00000255040.2	+	2	566	c.469G>A	c.(469-471)Gat>Aat	p.D157N		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	157	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					GCAGGAACAGGATTCCTATGG	0.498000													29	19					0	0	0.00127121	0	0
ARID1B	57492	broad.mit.edu	37	6	157488198	157488198	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:157488198C>T	ENST00000346085.5	+	10	2905	c.2904C>T	c.(2902-2904)aaC>aaT	p.N968N	ARID1B_ENST00000478761.1_3'UTR|ARID1B_ENST00000367148.1_Silent_p.N955N|ARID1B_ENST00000275248.4_Silent_p.N897N|ARID1B_ENST00000350026.5_Silent_p.N955N	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	955					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCGGCATGAACCAGAGTGGAC	0.557000													50	80					0	0	0.00361006	0	0
SLC22A23	63027	broad.mit.edu	37	6	3289998	3289998	+	Splice_Site	SNP	G	G	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:3289998G>T	ENST00000436008.2	-	6	1775	c.1313_splice	c.e6+1	p.S438_splice	SLC22A23_ENST00000406686.3_Splice_Site_p.S438_splice|SLC22A23_ENST00000490273.1_Splice_Site_p.S157_splice|PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000380302.4_Splice_Site_p.S157_splice			A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	438					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				TGTGACTCACGAGTTCACACA	0.607000													18	16					1.01871e-10	2.84142e-10	0.00121646	1	0
WDR48	57599	broad.mit.edu	37	3	39119691	39119691	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:39119691A>G	ENST00000302313.5	+	10	1064	c.1036A>G	c.(1036-1038)Ata>Gta	p.I346V	WDR48_ENST00000544962.1_Intron|WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.I264V	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	346					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TACAAATCCTATAACACCTCT	0.328000													42	37					0	0	0.0025221	0	0
EFHC1	114327	broad.mit.edu	37	6	52288799	52288799	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:52288799T>C	ENST00000371068.5	+	2	222	c.119T>C	c.(118-120)gTt>gCt	p.V40A	EFHC1_ENST00000433625.2_5'UTR|EFHC1_ENST00000491749.1_3'UTR|EFHC1_ENST00000538167.1_Missense_Mutation_p.V21A	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	40						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					TATGCAATTGTTCGACGTCCA	0.473000													31	100					0	0	0.00209593	0	0
TMEM176B	28959	broad.mit.edu	37	7	150490296	150490296	+	Silent	SNP	G	G	A	rs148000953		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:150490296G>A	ENST00000447204.2	-	5	852	c.480C>T	c.(478-480)atC>atT	p.I160I	TMEM176B_ENST00000429904.2_Silent_p.I160I|TMEM176B_ENST00000326442.5_Silent_p.I160I|TMEM176B_ENST00000434545.1_Silent_p.I160I|TMEM176B_ENST00000450753.2_Silent_p.I123I|TMEM176B_ENST00000492607.1_Silent_p.I160I	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	160					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACACAGTGTCGATGTATAAAA	0.517000													86	30					0	0	0.00361006	0	0
RAF1	5894	broad.mit.edu	37	3	12660171	12660171	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:12660171A>G	ENST00000251849.4	-	2	489	c.50T>C	c.(49-51)tTc>tCc	p.F17S	RAF1_ENST00000542177.1_5'UTR|RAF1_ENST00000442415.2_Missense_Mutation_p.F17S	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	17					activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	GGCATCTTTGAATCCAAAACC	0.438000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				6	29					0	0	0.00116845	0	0
APOB	338	broad.mit.edu	37	2	21247979	21247979	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:21247979T>C	ENST00000233242.1	-	16	2389	c.2262A>G	c.(2260-2262)atA>atG	p.I754M	APOB_ENST00000399256.4_Missense_Mutation_p.I754M	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	754					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CACTGAGCATTATTCCATTTA	0.443000													105	176					0	0	0.00361006	0	0
SLC22A11	55867	broad.mit.edu	37	11	64323864	64323864	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:64323864G>A	ENST00000301891.4	+	1	767	c.393_splice	c.e1+1	p.K131_splice	SLC22A11_ENST00000377585.3_Splice_Site_p.K131_splice|SLC22A11_ENST00000377581.3_Splice_Site_p.K131_splice|SLC22A11_ENST00000490834.1_3'UTR	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	131					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	TCGTGGCCAAGGTAGGGCCTC	0.637000													5	9					0	0	0.00116845	0	0
IGLV2-18	28814	broad.mit.edu	37	22	23077503	23077503	+	RNA	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr22:23077503C>T	ENST00000390310.2	+	0	293																											CACGGCCTCCCTGACCATCTC	0.557000													60	12					0	0	0.00361006	0	0
CLASP2	23122	broad.mit.edu	37	3	33623386	33623386	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:33623386A>C	ENST00000399362.4	-	23	2627	c.2274T>G	c.(2272-2274)agT>agG	p.S758R	CLASP2_ENST00000480013.1_Missense_Mutation_p.S525R|CLASP2_ENST00000307312.7_Missense_Mutation_p.S247R|CLASP2_ENST00000359576.5_Missense_Mutation_p.S758R|CLASP2_ENST00000539981.1_Missense_Mutation_p.S528R|CLASP2_ENST00000468888.2_Missense_Mutation_p.S759R|CLASP2_ENST00000461133.3_Missense_Mutation_p.S525R	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	759										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TGCATCCTTGACTCACACTTG	0.512000													11	15					0	0	0.000978159	0	0
MUC15	143662	broad.mit.edu	37	11	26587199	26587199	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:26587199C>T	ENST00000436318.2	-	2	421	c.288G>A	c.(286-288)gcG>gcA	p.A96A	ANO3_ENST00000537978.1_Intron|MUC15_ENST00000529533.1_Silent_p.A96A|MUC15_ENST00000455601.2_Silent_p.A69A|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000527569.1_Silent_p.A96A|MUC15_ENST00000281268.8_Silent_p.A96A|ANO3_ENST00000256737.3_Intron			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	69						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GGGAATGACTCGCCTTGAGAT	0.378000													29	19					0	0	0.00127121	0	0
STRIP2	57464	broad.mit.edu	37	7	129104486	129104486	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:129104486C>T	ENST00000249344.2	+	16	1723	c.1683C>T	c.(1681-1683)atC>atT	p.I561I	STRIP2_ENST00000435494.2_Silent_p.I561I	NM_020704.2	NP_065755.1			striatin interacting protein 2																		AGCTGGGCATCGATGTGAACA	0.478000													17	207					0	0	0.00074312	0	0
PRRC2C	23215	broad.mit.edu	37	1	171549096	171549096	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:171549096C>T	ENST00000367742.3	+	28	7644	c.7402C>T	c.(7402-7404)Cca>Tca	p.P2468S	PRRC2C_ENST00000392078.3_Missense_Mutation_p.P2468S|PRRC2C_ENST00000426496.2_Missense_Mutation_p.P2401S|PRRC2C_ENST00000338920.4_Missense_Mutation_p.P2466S			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2466	Gln-rich.						protein C-terminus binding										CTCACTTCAACCATATAGGTA	0.438000													12	9					0	0	0.00136819	0	0
MXRA5	25878	broad.mit.edu	37	X	3242384	3242384	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chrX:3242384C>T	ENST00000217939.6	-	5	1496	c.1342G>A	c.(1342-1344)Gcc>Acc	p.A448T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	448						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ACCTTCTTGGCCGTACTCTGA	0.493000													96	19					0	0	0.00361006	0	0
KCNC1	3746	broad.mit.edu	37	11	17793621	17793621	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:17793621A>G	ENST00000379472.3	+	2	1010	c.980A>G	c.(979-981)cAc>cGc	p.H327R	KCNC1_ENST00000265969.6_Missense_Mutation_p.H327R	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	327						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CTGACCCGCCACTTTGTGGGC	0.647000													6	3					0	0	0.00198382	0	0
AGAP7	653268	broad.mit.edu	37	10	51464851	51464851	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr10:51464851G>A	ENST00000374095.5	-	7	1730	c.1605C>T	c.(1603-1605)tcC>tcT	p.S535S		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	535	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CTTCCCTCGTGGACTTTTCTG	0.552000													68	27					0	0	0.00361006	0	0
GMEB1	10691	broad.mit.edu	37	1	29040901	29040901	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:29040901C>T	ENST00000373816.1	+	10	1446	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F	GMEB1_ENST00000294409.2_Silent_p.F446F|GMEB1_ENST00000361872.4_Silent_p.F436F|GMEB1_ENST00000480454.1_3'UTR	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CTCAGCTCTTCCGCTATGCCA	0.577000													14	17					0	0	0.00316338	0	0
RABEP1	9135	broad.mit.edu	37	17	5264870	5264870	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:5264870C>T	ENST00000262477.6	+	9	1687	c.1463C>T	c.(1462-1464)tCc>tTc	p.S488F	NUP88_ENST00000573169.1_5'UTR|RABEP1_ENST00000537505.1_Missense_Mutation_p.S445F|RABEP1_ENST00000408982.2_Missense_Mutation_p.S488F|RABEP1_ENST00000341923.6_Missense_Mutation_p.S488F|RABEP1_ENST00000546142.2_Missense_Mutation_p.S488F	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	488					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GAGACAGCGTCCCTCCTCTCC	0.488000													21	19					0	0	0.00121646	0	0
SH3RF1	57630	broad.mit.edu	37	4	170028308	170028308	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr4:170028308G>A	ENST00000284637.9	-	11	2529	c.2188C>T	c.(2188-2190)Cgg>Tgg	p.R730W		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	730						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CGGGGCTTCCGTTTAGTGGAG	0.527000													18	10					0	0	0.00121646	0	0
MYH13	8735	broad.mit.edu	37	17	10258026	10258026	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:10258026C>T	ENST00000418404.3	-	10	1139	c.976G>A	c.(976-978)Gat>Aat	p.D326N	MYH13_ENST00000252172.4_Missense_Mutation_p.D326N|MYH13_ENST00000570743.1_Missense_Mutation_p.D326N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	326	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.D326Y(2)|p.D326N(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCACTGTCATCGATACTGGCT	0.453000													40	8					0	0	0.00128727	0	0
SRRM4	84530	broad.mit.edu	37	12	119592147	119592147	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:119592147G>A	ENST00000267260.4	+	12	1879	c.1491G>A	c.(1489-1491)cgG>cgA	p.R497R		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	497	Arg-rich.|Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GAAAGCGCCGGAGAGACTCCC	0.642000													5	10					0	0	0.00116845	0	0
OR6C70	390327	broad.mit.edu	37	12	55863228	55863228	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:55863228T>A	ENST00000327335.4	-	1	694	c.695A>T	c.(694-696)aAg>aTg	p.K232M	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GGCTTTCTTCTTTTGCTGAGC	0.358000													65	20					0	0	0.00361006	0	0
OR2M5	127059	broad.mit.edu	37	1	248309128	248309128	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:248309128C>T	ENST00000366476.1	+	1	679	c.679C>T	c.(679-681)Cac>Tac	p.H227Y		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GGCTGTCATTCACATGGGATC	0.418000													25	151					0	0	0.00395357	0	0
NMI	9111	broad.mit.edu	37	2	152139408	152139408	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:152139408C>T	ENST00000243346.5	-	2	525	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	19					inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		TTTATAAATTCATCTGGCGAA	0.259000													17	43					0	0	0.00395357	0	0
NTRK1	4914	broad.mit.edu	37	1	156849087	156849087	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:156849087A>T	ENST00000368196.3	+	14	2081	c.1961A>T	c.(1960-1962)cAg>cTg	p.Q654L	NTRK1_ENST00000392302.2_Missense_Mutation_p.Q624L|NTRK1_ENST00000358660.3_Missense_Mutation_p.Q657L|NTRK1_ENST00000524377.1_Missense_Mutation_p.Q660L	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	660	Protein kinase.		R -> C (in CIPA).		activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CTAGTGGGCCAGGGACTGGTG	0.592000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			16	36					0	0	0.00400662	0	0
SENP7	57337	broad.mit.edu	37	3	101056363	101056363	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:101056363G>A	ENST00000394095.2	-	17	2523	c.2470C>T	c.(2470-2472)Cca>Tca	p.P824S	SENP7_ENST00000394094.2_Missense_Mutation_p.P759S|SENP7_ENST00000314261.7_Missense_Mutation_p.P758S|SENP7_ENST00000348610.3_Missense_Mutation_p.P791S|SENP7_ENST00000394091.1_Missense_Mutation_p.P660S|SENP7_ENST00000358203.3_Missense_Mutation_p.P660S	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	824	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GAAAGATTTGGATTATCTTCT	0.303000													4	19					0	0	0.00024832	0	0
FGD6	55785	broad.mit.edu	37	12	95531384	95531384	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:95531384T>A	ENST00000343958.4	-	7	3131	c.2908A>T	c.(2908-2910)Atc>Ttc	p.I970F	FGD6_ENST00000549499.1_Missense_Mutation_p.I970F|FGD6_ENST00000546711.1_Missense_Mutation_p.I970F	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	970	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						AATTCTTTGATGTATGTGGAA	0.333000													8	48					0	0	0.000442599	0	0
CCDC158	339965	broad.mit.edu	37	4	77247050	77247050	+	Silent	SNP	A	A	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr4:77247050A>G	ENST00000388914.3	-	22	3269	c.3117T>C	c.(3115-3117)taT>taC	p.Y1039Y		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	1039	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGGCAGATCTATACTGTGATG	0.378000													57	22					0	0	0.00361006	0	0
ZNF831	128611	broad.mit.edu	37	20	57766351	57766351	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr20:57766351C>T	ENST00000371030.2	+	1	277	c.277C>T	c.(277-279)Cct>Tct	p.P93S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	93	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CATACTCAGCCCTGTGCTGCA	0.697000													5	5					0	0	0.000602214	0	0
BEND7	222389	broad.mit.edu	37	10	13481303	13481303	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr10:13481303C>T	ENST00000341083.3	-	9	1572	c.1276G>A	c.(1276-1278)Gac>Aac	p.D426N	BEND7_ENST00000396900.2_Missense_Mutation_p.D477N|BEND7_ENST00000486542.1_5'UTR	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	477							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TGCTTGAAGTCTTGGCTGGTT	0.522000													36	11					0	0	0.00170553	0	0
HDC	3067	broad.mit.edu	37	15	50535399	50535399	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:50535399C>T	ENST00000267845.3	-	11	1585	c.1183G>A	c.(1183-1185)Gac>Aac	p.D395N	HDC_ENST00000543581.1_Missense_Mutation_p.D362N	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	395					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	AAGGAAGGGTCGTTTCTGACC	0.413000													18	14					0	0	0.00188189	0	0
NDRG2	57447	broad.mit.edu	37	14	21486174	21486174	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr14:21486174G>A	ENST00000556147.1	-	15	1861	c.921C>T	c.(919-921)ttC>ttT	p.F307F	NDRG2_ENST00000397847.2_Silent_p.F296F|NDRG2_ENST00000298684.5_Silent_p.F264F|NDRG2_ENST00000397858.1_Silent_p.F307F|NDRG2_ENST00000350792.3_Silent_p.F293F|NDRG2_ENST00000397851.2_Silent_p.F307F|NDRG2_ENST00000553503.1_Silent_p.F293F|NDRG2_ENST00000360463.3_Silent_p.F293F|NDRG2_ENST00000554104.1_Silent_p.F220F|NDRG2_ENST00000298687.5_Silent_p.F307F|NDRG2_ENST00000403829.3_Silent_p.F303F|NDRG2_ENST00000555158.1_Silent_p.F293F|NDRG2_ENST00000554143.1_Silent_p.F293F|NDRG2_ENST00000397853.3_Silent_p.F307F|NDRG2_ENST00000397844.2_Silent_p.F277F|NDRG2_ENST00000397856.3_Silent_p.F277F|NDRG2_ENST00000397855.3_Silent_p.F264F			Q9UN36	NDRG2_HUMAN	NDRG family member 2	307					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GGAAGTACTTGAAGGCCTCGG	0.572000													75	31					0	0	0.00361006	0	0
ZNF615	284370	broad.mit.edu	37	19	52497018	52497018	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:52497018G>A	ENST00000602063.1	-	6	1660	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F	ZNF615_ENST00000376716.5_Silent_p.F437F|ZNF615_ENST00000598071.1_Silent_p.F448F|ZNF615_ENST00000594083.1_Silent_p.F448F|ZNF615_ENST00000391795.3_Silent_p.F442F			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TCTTCAAAGCGAAGCCCTTTC	0.438000													23	17					0	0	0.00332997	0	0
PRKX	5613	broad.mit.edu	37	X	3592739	3592739	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chrX:3592739C>A	ENST00000262848.5	-	2	589	c.235G>T	c.(235-237)Gtg>Ttg	p.V79L		NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	79	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				ATGCTCATCACCTTGAGGGCG	0.542000													62	20					7.25294e-45	2.06556e-44	0.00361006	1	0
ZMAT4	79698	broad.mit.edu	37	8	40532280	40532280	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:40532280C>T	ENST00000297737.6	-	5	666	c.520G>A	c.(520-522)Gca>Aca	p.A174T	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	174						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			GCAACTCTTGCCGCATTCTTT	0.478000													64	65					0	0	0.00361006	0	0
SERPINA9	327657	broad.mit.edu	37	14	94935929	94935929	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr14:94935929G>A	ENST00000337425.5	-	2	377	c.303C>T	c.(301-303)tcC>tcT	p.S101S	SERPINA9_ENST00000546329.1_Silent_p.S65S|SERPINA9_ENST00000298845.7_Intron|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000448305.2_Silent_p.S3S|SERPINA9_ENST00000380365.3_Silent_p.S83S	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	83					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GGGCCCCAAGGGAGAGCATGG	0.587000													18	12					0	0	0.00121646	0	0
RIMS4	140730	broad.mit.edu	37	20	43385568	43385568	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr20:43385568G>A	ENST00000372851.3	-	5	628	c.562C>T	c.(562-564)Cct>Tct	p.P188S	RIMS4_ENST00000541604.2_Missense_Mutation_p.P189S	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	188	C2.				exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				GGACTCTCAGGAAACAGCAGC	0.552000													84	93					0	0	0.00361006	0	0
TUBBP1	92755	broad.mit.edu	37	8	30210826	30210826	+	RNA	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:30210826G>A	ENST00000518096.1	+	0	1438																											AGAGGAGGAGGATTTCGGTGA	0.567000													12	3					0	0	0.000978159	0	0
MIR587	693172	broad.mit.edu	37	6	107232046	107232046	+	RNA	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:107232046G>A	ENST00000384845.1	+	0	47					NR_030314.1																						agggctcagggaatgtgtctg	0.522000													33	9					0	0	0.00148497	0	0
DMRTA1	63951	broad.mit.edu	37	9	22451399	22451399	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:22451399A>T	ENST00000325870.1	+	2	1229	c.1004A>T	c.(1003-1005)aAg>aTg	p.K335M		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	335					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		ATCCTTACTAAGATTTTCCCA	0.463000													17	9					0	0	0.000566183	0	0
XIRP2	129446	broad.mit.edu	37	2	168105470	168105470	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:168105470C>T	ENST00000409195.1	+	9	7657	c.7568C>T	c.(7567-7569)tCa>tTa	p.S2523L	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2523L|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2301L|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2348					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAATCTCATTCATTTCCAGAG	0.343000													33	80					0	0	0.00111076	0	0
CHIA	27159	broad.mit.edu	37	1	111858014	111858014	+	Missense_Mutation	SNP	G	G	A	rs142253415		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:111858014G>A	ENST00000369740.1	+	6	540	c.437G>A	c.(436-438)gGg>gAg	p.G146E	CHIA_ENST00000343320.6_Missense_Mutation_p.G146E|CHIA_ENST00000353665.6_Intron|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_Missense_Mutation_p.G38E|CHIA_ENST00000451398.2_5'UTR	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	146					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		GGCTCTCGTGGGAGCCCTCCT	0.527000													7	30					0	0	0.00198382	0	0
DSP	1832	broad.mit.edu	37	6	7583117	7583117	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:7583117G>A	ENST00000379802.3	+	24	5963	c.5622G>A	c.(5620-5622)aaG>aaA	p.K1874K	DSP_ENST00000418664.2_Silent_p.K1275K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1874	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATTCCCGCAAGGAGGAGGCTA	0.453000													54	48					0	0	0.00361006	0	0
KLHL18	23276	broad.mit.edu	37	3	47361177	47361177	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:47361177T>C	ENST00000232766.5	+	2	184	c.164T>C	c.(163-165)gTc>gCc	p.V55A	KLHL18_ENST00000455924.2_Intron	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	55										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CACCGGATTGTCTTAGCAGCC	0.413000													30	22					0	0	0.00283554	0	0
SLC22A14	9389	broad.mit.edu	37	3	38348771	38348771	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:38348771G>A	ENST00000273173.4	+	2	634	c.543G>A	c.(541-543)acG>acA	p.T181T	SLC22A14_ENST00000448498.1_Silent_p.T181T	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	181						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GCATGGAGACGAAGAAGGACA	0.547000													6	41					0	0	0.00198382	0	0
PTX3	5806	broad.mit.edu	37	3	157160467	157160467	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:157160467C>T	ENST00000295927.3	+	3	990	c.845C>T	c.(844-846)tCc>tTc	p.S282F	VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000543418.1_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	282	Pentaxin.				inflammatory response	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GGGCTCACATCCTTGTGGGTA	0.537000													25	9					0	0	0.000878237	0	0
TMEM246	84302	broad.mit.edu	37	9	104238636	104238636	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:104238636G>A	ENST00000374851.1	-	4	1886	c.739C>T	c.(739-741)Cac>Tac	p.H247Y	RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.H247Y|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.H247Y|RP11-490D19.6_ENST00000425734.1_RNA			Q9BRR3	CI125_HUMAN	transmembrane protein 246	247						integral to membrane											CTCTCGGGGTGATACAGCTTG	0.537000													17	53					0	0	0.000958276	0	0
ZNF667	63934	broad.mit.edu	37	19	56952910	56952910	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:56952910G>A	ENST00000504904.3	-	7	2173	c.1454C>T	c.(1453-1455)tCt>tTt	p.S485F	ZNF667_ENST00000292069.6_Missense_Mutation_p.S485F|ZNF667_ENST00000342634.3_Missense_Mutation_p.S613F|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TCGTGTGAGAGATATTCGGTG	0.448000													18	35					0	0	0.000958276	0	0
NEBL	10529	broad.mit.edu	37	10	21141544	21141544	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr10:21141544C>T	ENST00000377122.4	-	10	1334	c.938G>A	c.(937-939)gGa>gAa	p.G313E	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	313					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATGATACATTCCTTTGTTTTC	0.398000													9	9					0	0	0.000442599	0	0
TEP1	7011	broad.mit.edu	37	14	20852664	20852664	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr14:20852664G>A	ENST00000262715.5	-	23	3265	c.3225C>T	c.(3223-3225)taC>taT	p.Y1075Y	TEP1_ENST00000556935.1_Silent_p.Y967Y	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1075					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACTCACAGGGGTATCTGTGGG	0.597000													86	22					0	0	0.00361006	0	0
FAM129A	116496	broad.mit.edu	37	1	184787864	184787864	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:184787864C>G	ENST00000367511.3	-	9	1274	c.1081G>C	c.(1081-1083)Gga>Cga	p.G361R	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	361					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TCACTGAATCCCGAGCTCACT	0.537000													15	153					0	0	0.00316338	0	0
COL11A2	1302	broad.mit.edu	37	6	33144071	33144071	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:33144071C>T	ENST00000341947.2	-	28	2406	c.2179G>A	c.(2179-2181)Gga>Aga	p.G727R	COL11A2_ENST00000374713.1_Missense_Mutation_p.G680R|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.G646R|COL11A2_ENST00000357486.1_Missense_Mutation_p.G706R|COL11A2_ENST00000374708.4_Missense_Mutation_p.G641R|COL11A2_ENST00000361917.1_Missense_Mutation_p.G620R|COL11A2_ENST00000395197.1_Missense_Mutation_p.G667R|COL11A2_ENST00000374714.1_Missense_Mutation_p.G701R	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	727	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCCCGAATTCCGTCCACACCC	0.557000													4	11					0	0	0.000602214	0	0
OR2D3	120775	broad.mit.edu	37	11	6943044	6943044	+	Missense_Mutation	SNP	G	G	A	rs146157596		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:6943044G>A	ENST00000317834.3	+	1	840	c.812G>A	c.(811-813)gGa>gAa	p.G271E		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G271V(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TATGGGTCAGGAATATTCACC	0.443000													15	42					0	0	0.00316338	0	0
BCAS3	54828	broad.mit.edu	37	17	59112107	59112107	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:59112107C>T	ENST00000589222.1	+	17	1786	c.1718C>T	c.(1717-1719)tCc>tTc	p.S573F	BCAS3_ENST00000390652.5_Missense_Mutation_p.S588F|BCAS3_ENST00000407086.3_Missense_Mutation_p.S573F|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000588462.1_Missense_Mutation_p.S588F|BCAS3_ENST00000588874.1_Missense_Mutation_p.S344F|BCAS3_ENST00000585744.1_Missense_Mutation_p.S359F|BCAS3_ENST00000408905.3_Missense_Mutation_p.S573F			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	588						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TTCGGAACATCCAGGTCATGG	0.353000													30	42					0	0	0.00375469	0	0
NPY1R	4886	broad.mit.edu	37	4	164246515	164246515	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr4:164246515C>T	ENST00000296533.2	-	3	1626	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	NPY1R_ENST00000509586.1_Silent_p.K122K	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	365					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGCTTGCTTGCTTCAAAGAAG	0.373000													30	19					0	0	0.00127121	0	0
SIRPG	55423	broad.mit.edu	37	20	1615937	1615937	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr20:1615937C>T	ENST00000381580.1	-	4	1137	c.958G>A	c.(958-960)Gac>Aac	p.D320N	SIRPG_ENST00000381583.2_Intron|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000303415.3_Missense_Mutation_p.D353N|SIRPG_ENST00000216927.4_Intron|SIRPG_ENST00000344103.4_Intron			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	353	Ig-like C1-type 2.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GAGCTCTGGTCCTTCTGGTGG	0.458000													25	9					0	0	0.00395357	0	0
CC2D2B	387707	broad.mit.edu	37	10	97779035	97779035	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr10:97779035A>G	ENST00000344386.3	+	7	762	c.598A>G	c.(598-600)Aag>Gag	p.K200E	ENTPD1-AS1_ENST00000451364.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000458228.1_RNA|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.K200E|ENTPD1-AS1_ENST00000416301.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	200										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		CCAATGTTATAAGCAGTTTGA	0.333000													31	11					0	0	0.00178596	0	0
LRRFIP1	9208	broad.mit.edu	37	2	238671482	238671482	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:238671482C>T	ENST00000244815.5	+	10	1294	c.1054C>T	c.(1054-1056)Ctt>Ttt	p.L352F	LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000392000.4_Missense_Mutation_p.L376F|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.L320F	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	376					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AAGCCAAATTCTTGAGAGCAG	0.493000													26	42					0	0	0.000720815	0	0
CCDC69	26112	broad.mit.edu	37	5	150563912	150563912	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:150563912G>A	ENST00000355417.2	-	8	880	c.706C>T	c.(706-708)Ctg>Ttg	p.L236L	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	236										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TACCTTGACAGGACCACCTGG	0.483000													24	25					0	0	0.00395357	0	0
ZYX	7791	broad.mit.edu	37	7	143079964	143079964	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:143079964C>T	ENST00000322764.5	+	5	917	c.572C>T	c.(571-573)gCc>gTc	p.A191V	ZYX_ENST00000477373.1_3'UTR|ZYX_ENST00000392910.2_Missense_Mutation_p.A34V|ZYX_ENST00000449423.2_Missense_Mutation_p.A104V	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	191					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					AAGCCTGCAGCCGGGGGCACA	0.617000													43	17					0	0	0.0025221	0	0
KLK4	9622	broad.mit.edu	37	19	51412580	51412580	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:51412580T>C	ENST00000324041.1	-	2	151	c.152A>G	c.(151-153)gAa>gGa	p.E51G	KLK4_ENST00000431178.2_Missense_Mutation_p.E2G	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	51	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		CAATTCGTTTTCCATGACCAG	0.617000													103	107					0	0	0.00361006	0	0
FAM92B	339145	broad.mit.edu	37	16	85141473	85141473	+	Silent	SNP	T	T	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr16:85141473T>G	ENST00000539556.1	-	4	560	c.405A>C	c.(403-405)tcA>tcC	p.S135S		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	135										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						GATCCGAGGGTGACTTCTGCC	0.493000													32	65					0	0	0.00327116	0	0
BIK	638	broad.mit.edu	37	22	43520119	43520119	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr22:43520119G>A	ENST00000216115.2	+	2	154	c.91G>A	c.(91-93)Ggc>Agc	p.G31S		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	31					apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				GGAGGTTCTTGGCATGACTGA	0.557000													50	12					0	0	0.00361006	0	0
ZNF71	58491	broad.mit.edu	37	19	57133209	57133209	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:57133209C>T	ENST00000328070.6	+	3	788	c.554C>T	c.(553-555)cCc>cTc	p.P185L		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	185						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GGCGAGAAGCCCTATGCCTGC	0.632000													15	16					0	0	0.00074312	0	0
HEPACAM	220296	broad.mit.edu	37	11	124794949	124794949	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:124794949C>T	ENST00000298251.4	-	2	507	c.102G>A	c.(100-102)gtG>gtA	p.V34V		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	34	Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TGGTGATGTTCACCCCCTCCA	0.602000													12	18					0	0	0.00244969	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37506704	37506704	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr10:37506704C>T	ENST00000374660.1	+	39	3453	c.3354C>T	c.(3352-3354)atC>atT	p.I1118I	ANKRD30A_ENST00000602533.1_Silent_p.I999I|ANKRD30A_ENST00000361713.1_Silent_p.I999I			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1100						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TAGGAAGAATCGAAGAGCAGC	0.323000													22	9					0	0	0.00229938	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209864	140209864	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:140209864G>A	ENST00000529310.1	+	1	2302	c.2188G>A	c.(2188-2190)Ggc>Agc	p.G730S	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCACCGAGGGCGCGTGCAC	0.682000													16	19					0	0	0.00400662	0	0
KCNB1	3745	broad.mit.edu	37	20	47991004	47991004	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr20:47991004G>A	ENST00000371741.4	-	2	1259	c.1093C>T	c.(1093-1095)Cca>Tca	p.P365S		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	365					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AAAGAGGCTGGGATGCTTTTG	0.517000													40	31					0	0	0.00361006	0	0
TTN	7273	broad.mit.edu	37	2	179447923	179447923	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:179447923C>T	ENST00000589042.1	-	313	65831	c.65607G>A	c.(65605-65607)atG>atA	p.M21869I	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M20228I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M12929I|TTN_ENST00000342992.6_Missense_Mutation_p.M19301I|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M12804I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M12996I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20228	Fibronectin type-III 58.						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)			GCAAAGATTTCATAGCCACAC	0.373000													13	18					0	0	0.00316338	0	0
ABCB1	5243	broad.mit.edu	37	7	87160636	87160636	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:87160636T>C	ENST00000265724.3	-	22	3076	c.2659A>G	c.(2659-2661)Aag>Gag	p.K887E	ABCB1_ENST00000543898.1_Missense_Mutation_p.K823E|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	887	ABC transmembrane type-1 2.		K -> N (in a colorectal cancer sample; somatic mutation).		G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AGTTCTTTCTTATCTTTCAGT	0.348000													20	103					0	0	0.00152264	0	0
CPZ	8532	broad.mit.edu	37	4	8616092	8616092	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr4:8616092C>T	ENST00000429646.2	+	7	2987	c.194C>T	c.(193-195)tCc>tTc	p.S65F	CPZ_ENST00000382480.2_Missense_Mutation_p.S320F|CPZ_ENST00000315782.6_Missense_Mutation_p.S446F|CPZ_ENST00000360986.4_Missense_Mutation_p.S457F			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	457	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACAGGCATGTCCGATTTCAAC	0.617000													28	7					0	0	0.00283554	0	0
DPYD	1806	broad.mit.edu	37	1	97700485	97700485	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:97700485G>A	ENST00000370192.3	-	19	2465	c.2365C>T	c.(2365-2367)Ccc>Tcc	p.P789S	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	789					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GCCAAAATGGGAAATCCAGGC	0.468000													14	18					0	0	0.00185496	0	0
LDHAL6A	160287	broad.mit.edu	37	11	18487325	18487325	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:18487325C>T	ENST00000280706.2	+	3	1183	c.386C>T	c.(385-387)cCt>cTt	p.P129L	LDHAL6A_ENST00000396213.3_Missense_Mutation_p.P129L	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	129					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			large_intestine(3)|lung(9)|urinary_tract(1)	13					NADH(DB00157)	CAGTACAGTCCTCACTGCAAA	0.388000													13	66					0	0	0.00316338	0	0
POF1B	79983	broad.mit.edu	37	X	84537296	84537296	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chrX:84537296G>A	ENST00000262753.4	-	16	1822	c.1677C>T	c.(1675-1677)ggC>ggT	p.G559G	POF1B_ENST00000373145.3_Silent_p.G559G	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	559							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CATATAGGAGGCCTAGGATTG	0.378000													9	13					0	0	0.000673444	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				100	17					0	0	0.00361006	0	0
PTPRK	5796	broad.mit.edu	37	6	128294865	128294865	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:128294865C>T	ENST00000368227.3	-	29	4494	c.4128G>A	c.(4126-4128)gtG>gtA	p.V1376V	PTPRK_ENST00000368226.4_Silent_p.V1359V|PTPRK_ENST00000368213.5_Silent_p.V1365V|PTPRK_ENST00000368207.3_Silent_p.V1391V|PTPRK_ENST00000532331.1_Silent_p.V1381V|PTPRK_ENST00000368215.3_Silent_p.V1358V|PTPRK_ENST00000368210.3_Silent_p.V1377V			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1358	Tyrosine-protein phosphatase 2.				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)		GCCACTTTTCCACCTGAAGTA	0.512000													35	23					0	0	0.00111076	0	0
GFM2	84340	broad.mit.edu	37	5	74034150	74034150	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:74034150A>T	ENST00000296805.3	-	14	1770	c.1313T>A	c.(1312-1314)cTt>cAt	p.L438H	GFM2_ENST00000345239.2_Missense_Mutation_p.L391H|GFM2_ENST00000509430.1_Missense_Mutation_p.L438H|GFM2_ENST00000427854.2_Missense_Mutation_p.L438H	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	438					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TACATGTTTAAGCCCAACAGT	0.353000													31	43					0	0	0.0024448	0	0
RNF17	56163	broad.mit.edu	37	13	25435478	25435478	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr13:25435478G>C	ENST00000255324.5	+	27	3899	c.3847G>C	c.(3847-3849)Gat>Cat	p.D1283H	RNF17_ENST00000339524.3_Missense_Mutation_p.D335H|RNF17_ENST00000381921.1_Missense_Mutation_p.D1283H	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1283	Tudor 3.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GCTGTATCCTGATATACCCCA	0.318000													8	256					0	0	0.000442599	0	0
USH2A	7399	broad.mit.edu	37	1	216172359	216172359	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:216172359T>C	ENST00000366943.2	-	34	6913	c.6527A>G	c.(6526-6528)tAt>tGt	p.Y2176C	USH2A_ENST00000307340.3_Missense_Mutation_p.Y2176C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2176	Fibronectin type-III 8.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATATAATACATAGCGTTCCAG	0.313000										HNSCC(13;0.011)			11	56					0	0	0.00185496	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122958303	122958303	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:122958303G>A	ENST00000543897.1	-	12	3506	c.1151C>T	c.(1150-1152)gCc>gTc	p.A384V	ZCCHC8_ENST00000538116.1_Missense_Mutation_p.A233V|ZCCHC8_ENST00000336229.4_Missense_Mutation_p.A622V|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.A384V			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	622						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		ATCAAGAAGGGCACCTTCAGT	0.498000													51	49					0	0	0.00361006	0	0
SNHG14	104472715	broad.mit.edu	37	15	25457057	25457057	+	RNA	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:25457057G>A	ENST00000424208.1	+	0	2516				SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA	NR_003305.1																						GAGGATGCTGGGATCCCGAGA	0.512000													42	60					0	0	0.00222228	0	0
FZR1	51343	broad.mit.edu	37	19	3525944	3525944	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:3525944C>T	ENST00000441788.2	+	3	384	c.148C>T	c.(148-150)Ccc>Tcc	p.P50S	FZR1_ENST00000395095.3_Missense_Mutation_p.P50S|FZR1_ENST00000313639.8_Missense_Mutation_p.P50S	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	50					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCTTCATCCCCTCCAGAGC	0.667000													7	10					0	0	0.000274275	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147336363	147336363	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:147336363A>C	ENST00000361727.3	+	13	2579	c.2063A>C	c.(2062-2064)tAt>tCt	p.Y688S		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	688	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TATGTCTCCTATTTCTGCAAG	0.453000										HNSCC(39;0.1)			13	42					0	0	0.00400662	0	0
OR6C2	341416	broad.mit.edu	37	12	55846667	55846667	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:55846667C>T	ENST00000322678.1	+	1	670	c.670C>T	c.(670-672)Ctg>Ttg	p.L224L	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CAGAACAATTCTGAAGTTCCC	0.398000													62	12					0	0	0.00361006	0	0
SLAIN1	122060	broad.mit.edu	37	13	78320656	78320656	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr13:78320656G>A	ENST00000466548.1	+	5	884	c.858G>A	c.(856-858)agG>agA	p.R286R	SLAIN1_ENST00000351546.3_Silent_p.R23R|SLAIN1_ENST00000267219.8_Silent_p.R67R|SLAIN1_ENST00000358679.3_Silent_p.R23R|SLAIN1_ENST00000465831.1_3'UTR|SLAIN1_ENST00000488699.1_Silent_p.R144R|SLAIN1_ENST00000314070.5_Intron|SLAIN1_ENST00000418532.1_Silent_p.R67R	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	286										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		TAGGTCTCAGGCAAGATTATG	0.318000													10	50					0	0	0.000673444	0	0
ACD	65057	broad.mit.edu	37	16	67694253	67694253	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr16:67694253C>T	ENST00000219251.8	-	1	460	c.129G>A	c.(127-129)cgG>cgA	p.R43R	ACD_ENST00000393919.4_Silent_p.R43R	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	43					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CACGTACACCCCGCGCCTGCG	0.736000													5	15					0	0	0.00116845	0	0
UROD	7389	broad.mit.edu	37	1	45478860	45478860	+	Silent	SNP	T	T	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:45478860T>G	ENST00000246337.4	+	3	305	c.186T>G	c.(184-186)ccT>ccG	p.P62P	UROD_ENST00000494399.1_3'UTR	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	62			P -> L (in HEP).			cytosol|microtubule cytoskeleton|nucleus	uroporphyrinogen decarboxylase activity			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					GTCGCTCTCCTGAGGCCTGCT	0.557000									Porphyria Cutanea Tarda, Type II				34	21					0	0	0.00327116	0	0
TAF1	6872	broad.mit.edu	37	X	70608165	70608165	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chrX:70608165C>T	ENST00000449580.1	+	16	2554	c.2503C>T	c.(2503-2505)Cct>Tct	p.P835S	TAF1_ENST00000373790.4_Missense_Mutation_p.P835S|TAF1_ENST00000423759.1_Missense_Mutation_p.P856S|TAF1_ENST00000276072.3_Missense_Mutation_p.P856S			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	835					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AAAAGCCTTTCCTTCCCATTC	0.438000													16	20					0	0	0.00121646	0	0
CR2	1380	broad.mit.edu	37	1	207640119	207640119	+	Silent	SNP	A	A	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:207640119A>C	ENST00000367057.3	+	2	496	c.307A>C	c.(307-309)Aga>Cga	p.R103R	CR2_ENST00000367058.3_Silent_p.R103R|CR2_ENST00000367059.3_Silent_p.R103R|CR2_ENST00000458541.2_Silent_p.R103R	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	103	Sushi 2.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						ATACAAAATTAGAGGCTCTAC	0.408000													34	24					0	0	0.00375469	0	0
OR6N1	128372	broad.mit.edu	37	1	158736160	158736160	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:158736160G>A	ENST00000335094.2	-	1	332	c.313C>T	c.(313-315)Cac>Tac	p.H105Y		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					CCAAGGGAGTGAAAGAAATAG	0.512000													11	31					0	0	0.00185496	0	0
SPG21	51324	broad.mit.edu	37	15	65262491	65262491	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:65262491G>A	ENST00000559199.1	-	4	1060	c.60C>T	c.(58-60)gaC>gaT	p.D20D	SPG21_ENST00000204566.2_Silent_p.D174D|SPG21_ENST00000433215.2_Silent_p.D174D|SPG21_ENST00000416889.2_Silent_p.D147D			Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	174					cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						CCATCATAGGGTCCACCGGGC	0.398000													49	207					0	0	0.00361006	0	0
FAM135B	51059	broad.mit.edu	37	8	139164653	139164653	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:139164653C>G	ENST00000395297.1	-	13	2235	c.2065G>C	c.(2065-2067)Gag>Cag	p.E689Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	689										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGCTCACTCTCAATGCCTGAA	0.537000										HNSCC(54;0.14)			20	20					0	0	0.00188189	0	0
GRIK1	2897	broad.mit.edu	37	21	30934004	30934004	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr21:30934004T>C	ENST00000399914.1	-	14	2773	c.2252A>G	c.(2251-2253)aAc>aGc	p.N751S	GRIK1_ENST00000399913.1_Missense_Mutation_p.N766S|GRIK1_ENST00000309434.7_Missense_Mutation_p.N768S|GRIK1_ENST00000389125.3_Missense_Mutation_p.N751S|GRIK1_ENST00000535441.1_Missense_Mutation_p.N768S|GRIK1_ENST00000327783.4_Missense_Mutation_p.N766S|GRIK1_ENST00000399907.1_Missense_Mutation_p.N766S|GRIK1_ENST00000389124.2_Missense_Mutation_p.N766S|GRIK1_ENST00000399909.1_Missense_Mutation_p.N751S			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	766					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CTGAGTGAGGTTGCAGTTTCT	0.507000													29	8					0	0	0.00283554	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033134	20033134	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr20:20033134C>T	ENST00000377340.2	-	2	367	c.336G>A	c.(334-336)gcG>gcA	p.A112A	CRNKL1_ENST00000377327.4_Silent_p.A100A	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	112					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TTTGACCTCTCGCTTGAGCCG	0.597000													21	10					0	0	0.00229938	0	0
TTN	7273	broad.mit.edu	37	2	179427846	179427846	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:179427846C>T	ENST00000589042.1	-	326	83237	c.83013G>A	c.(83011-83013)gaG>gaA	p.E27671E	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.E26030E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.E18731E|TTN_ENST00000342992.6_Silent_p.E25103E|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Silent_p.E18606E|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.E18798E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26030	Fibronectin type-III 101.						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)			TTTCTGGTGGCTCTATCCTCT	0.453000													99	110					0	0	0.00361006	0	0
HEATR5B	54497	broad.mit.edu	37	2	37310452	37310452	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:37310452C>T	ENST00000233099.5	-	2	201	c.106G>A	c.(106-108)Gtc>Atc	p.V36I	HEATR5B_ENST00000354531.2_Missense_Mutation_p.V36I	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	36							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GCAACCAAGACTTTATCAAGA	0.373000													28	38					0	0	0.00106085	0	0
IL37	27178	broad.mit.edu	37	2	113676334	113676334	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:113676334C>T	ENST00000263326.3	+	5	647	c.605C>T	c.(604-606)tCa>tTa	p.S202L	IL37_ENST00000353225.3_Missense_Mutation_p.S162L|IL37_ENST00000349806.3_Missense_Mutation_p.S141L|IL37_ENST00000311328.2_Missense_Mutation_p.S176L|IL37_ENST00000352179.3_Missense_Mutation_p.S181L	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	202					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						ATTGAATTTTCATTTCAACCA	0.458000													12	30					0	0	0.00316338	0	0
GPR156	165829	broad.mit.edu	37	3	119962558	119962558	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:119962558C>T	ENST00000464295.1	-	3	607	c.162G>A	c.(160-162)tgG>tgA	p.W54*	GPR156_ENST00000315843.3_Nonsense_Mutation_p.W54*|GPR156_ENST00000461057.1_Nonsense_Mutation_p.W54*			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	54						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TGAGAAAAGTCCAAACAATAC	0.438000													16	32					0	0	0.00400662	0	0
PRUNE2	158471	broad.mit.edu	37	9	79318669	79318669	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:79318669C>T	ENST00000428286.1	-	9	7983	c.6783G>A	c.(6781-6783)acG>acA	p.T2261T	PRUNE2_ENST00000376718.3_Silent_p.T2620T			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2620					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AAGATGATCTCGTATCGCTTT	0.483000													25	21					0	0	0.00332997	0	0
ANK3	288	broad.mit.edu	37	10	61946534	61946534	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr10:61946534C>A	ENST00000280772.1	-	17	2215	c.2024G>T	c.(2023-2025)gGg>gTg	p.G675V	ANK3_ENST00000373827.2_Missense_Mutation_p.G669V|ANK3_ENST00000503366.1_Missense_Mutation_p.G658V	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	675					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTCCACGTGCCCTTCCTGAGC	0.517000													16	11					4.7546e-09	1.31989e-08	0.00400662	1	0
FBXL16	146330	broad.mit.edu	37	16	747111	747111	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr16:747111C>T	ENST00000397621.1	-	2	626	c.295G>A	c.(295-297)Gag>Aag	p.E99K	FBXL16_ENST00000324361.5_Missense_Mutation_p.E99K	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	99	F-box.									endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				AGGATCTTCTCGTCCGTGGCC	0.697000													18	3					0	0	0.00121646	0	0
LILRA3	11026	broad.mit.edu	37	19	54802513	54802513	+	Missense_Mutation	SNP	G	G	A	rs146793217		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:54802513G>A	ENST00000391745.1	-	9	1295	c.979C>T	c.(979-981)Ccc>Tcc	p.P327S	LILRA3_ENST00000391744.3_Missense_Mutation_p.P246S|LILRA3_ENST00000251390.3_Missense_Mutation_p.P310S					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGTCGCTGGGGGCCGACCAC	0.672000													6	64					0	0	0.00185496	0	0
LILRP2	79166	broad.mit.edu	37	19	55222109	55222109	+	RNA	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:55222109G>A	ENST00000413439.1	+	0	1636																											CCCACGCGGGGACCTACAGGT	0.627000													24	28					0	0	0.000878237	0	0
MYCN	4613	broad.mit.edu	37	2	16085739	16085739	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:16085739C>T	ENST00000281043.3	+	3	1212	c.915C>T	c.(913-915)aaC>aaT	p.N305N		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	305					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GTCCCAAGAACGCAGCCCTGG	0.592000			A		neuroblastoma								9	17					0	0	0.000274275	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100591903	100591903	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:100591903G>A	ENST00000268070.4	-	17	2434	c.2329C>T	c.(2329-2331)Cat>Tat	p.H777Y		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	777	Spacer.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TATTCATAATGAATTCCATAA	0.468000													30	103					0	0	0.00209593	0	0
CIB4	130106	broad.mit.edu	37	2	26864150	26864150	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:26864150C>T	ENST00000288861.4	-	1	86	c.33G>A	c.(31-33)tgG>tgA	p.W11*		NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	11							calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGGTCCTCCCAGTGCATCT	0.557000													62	129					0	0	0.00361006	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815923	23815923	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr4:23815923C>T	ENST00000264867.2	-	8	1302	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	395					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				ATGAGTATTTCTGTTTTGGAA	0.453000													20	9					0	0	0.00121646	0	0
PSG8	440533	broad.mit.edu	37	19	43268192	43268192	+	Silent	SNP	A	A	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:43268192A>G	ENST00000404209.4	-	2	402	c.306T>C	c.(304-306)taT>taC	p.Y102Y	PSG8_ENST00000401467.2_Silent_p.Y102Y|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000306511.4_Silent_p.Y102Y	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	102	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ATGCATTGGAATATATTGTTT	0.428000													98	242					0	0	0.00361006	0	0
LGALS12	85329	broad.mit.edu	37	11	63276045	63276045	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:63276045G>A	ENST00000255684.5	+	2	465	c.156G>A	c.(154-156)acG>acA	p.T52T	LGALS12_ENST00000340246.5_Silent_p.T52T|LGALS12_ENST00000415491.2_5'UTR|LGALS12_ENST00000425950.2_5'UTR|LGALS12_ENST00000394618.3_Silent_p.T52T	NM_001142536.1	NP_001136008.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	52	Galectin 1.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						ATGTCACGACGATTTTTGGAG	0.547000													21	26					0	0	0.00278032	0	0
CDK4	1019	broad.mit.edu	37	12	58145431	58145431	+	Missense_Mutation	SNP	G	G	T	rs11547328		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:58145431G>T	ENST00000257904.6	-	2	435	c.70C>A	c.(70-72)Cgt>Agt	p.R24S	CDK4_ENST00000549606.1_Intron|CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000312990.6_Missense_Mutation_p.R24S|CDK4_ENST00000540325.1_5'UTR	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	24	Protein kinase.		R -> C (in CMM3; somatic and familial; generates a dominant oncogene resistant to inhibition by p16(INK4a); dbSNP:rs11547328).|R -> H (in CMM3).		cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TGGGGATCACGGGCCTTGTAC	0.557000			Mis			melanoma			Hereditary Melanoma				22	4					1.64293e-13	4.59708e-13	0.00332997	1	0
WNK2	65268	broad.mit.edu	37	9	96021501	96021501	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:96021501C>T	ENST00000297954.4	+	11	2671	c.2671C>T	c.(2671-2673)Cca>Tca	p.P891S	WNK2_ENST00000427277.2_Missense_Mutation_p.P503S|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.P503S|WNK2_ENST00000395477.2_Missense_Mutation_p.P891S|WNK2_ENST00000356055.3_5'UTR			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	891					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GGCCGTAGCCCCACCGGGCGT	0.687000													4	17					0	0	0.00024832	0	0
ZNF227	7770	broad.mit.edu	37	19	44738927	44738927	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:44738927C>T	ENST00000313040.7	+	6	549	c.344C>T	c.(343-345)tCc>tTc	p.S115F	ZNF227_ENST00000391961.2_Missense_Mutation_p.S64F|ZNF227_ENST00000589707.1_3'UTR|ZNF227_ENST00000586228.1_3'UTR|ZNF227_ENST00000589005.1_Missense_Mutation_p.S64F	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				CAAGAGCTGTCCTGCTGGCAA	0.368000													19	56					0	0	0.00152264	0	0
LRRC47	57470	broad.mit.edu	37	1	3703771	3703771	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:3703771T>G	ENST00000378251.1	-	2	746	c.719A>C	c.(718-720)aAg>aCg	p.K240T		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	240					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CTCCAGGCGCTTGTCCCTCAG	0.622000													15	38					0	0	0.000566183	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13400095	13400095	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:13400095C>T	ENST00000284110.1	-	2	1437	c.640G>A	c.(640-642)Gag>Aag	p.E214K	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.E12K	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	214						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGCGTCTTCTCCATGGTGATC	0.612000													22	6					0	0	0.00278032	0	0
ASPM	259266	broad.mit.edu	37	1	197071457	197071457	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:197071457G>A	ENST00000367409.4	-	18	7180	c.6924C>T	c.(6922-6924)ttC>ttT	p.F2308F	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2308					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GTACCTGAAGGAACTGTAAGT	0.388000													48	33					0	0	0.00361006	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720641	140720641	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:140720641C>T	ENST00000394576.2	+	1	2103	c.2103C>T	c.(2101-2103)tcC>tcT	p.S701S	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGGTCTCCTGCGTCTTCC	0.662000													50	57					0	0	0.00361006	0	0
MYO1C	4641	broad.mit.edu	37	17	1386285	1386285	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:1386285G>T	ENST00000359786.5	-	4	740	c.416C>A	c.(415-417)tCt>tAt	p.S139Y	MYO1C_ENST00000575158.1_Missense_Mutation_p.S104Y|MYO1C_ENST00000361007.2_Missense_Mutation_p.S104Y|MYO1C_ENST00000545534.2_Missense_Mutation_p.S115Y|MYO1C_ENST00000438665.2_Missense_Mutation_p.S120Y	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	139	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCTCTCCCCAGAGATCATCAC	0.677000													14	2					1.5842e-08	4.39085e-08	0.00185496	1	0
DPPA2	151871	broad.mit.edu	37	3	109031524	109031524	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:109031524C>T	ENST00000478945.1	-	3	295	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	17						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCATCTACTTCCCCCTCCAAG	0.398000													19	41					0	0	0.00121646	0	0
RP1L1	94137	broad.mit.edu	37	8	10465158	10465158	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:10465158G>A	ENST00000382483.3	-	4	6673	c.6450C>T	c.(6448-6450)gcC>gcT	p.A2150A		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2150					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGCATCCTGGGCCTCTACAC	0.617000													34	26					0	0	0.00327116	0	0
WDR72	256764	broad.mit.edu	37	15	53908113	53908113	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:53908113C>T	ENST00000396328.1	-	15	2529	c.2290G>A	c.(2290-2292)Gat>Aat	p.D764N	WDR72_ENST00000559418.1_Missense_Mutation_p.D774N|WDR72_ENST00000360509.5_Missense_Mutation_p.D764N|WDR72_ENST00000557913.1_Missense_Mutation_p.D761N	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	764										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TTAATGCCATCATTTTCTTCT	0.408000													27	41					0	0	0.000720815	0	0
TNFSF8	944	broad.mit.edu	37	9	117666367	117666367	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:117666367C>T	ENST00000223795.2	-	4	662	c.549G>A	c.(547-549)acG>acA	p.T183T	TNFSF8_ENST00000474301.1_Intron	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	183					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	p.T183T(2)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						ATACGTGTTTCGTTTGCATTC	0.418000													51	47					0	0	0.00361006	0	0
TSPAN9	10867	broad.mit.edu	37	12	3387672	3387672	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:3387672C>T	ENST00000011898.5	+	4	310	c.149C>T	c.(148-150)tCg>tTg	p.S50L	TSPAN9_ENST00000492305.1_3'UTR|TSPAN9_ENST00000537971.1_Missense_Mutation_p.S50L|TSPAN9_ENST00000407263.1_Missense_Mutation_p.S50L	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	50						integral to plasma membrane|membrane fraction				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			AGCTTCCCTTCGTTGTCTGCA	0.592000													36	13					0	0	0.00111076	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459714	107459714	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:107459714C>T	ENST00000409382.3	-	2	1330	c.720G>A	c.(718-720)ggG>ggA	p.G240G	ST6GAL2_ENST00000361686.4_Silent_p.G240G|ST6GAL2_ENST00000409087.3_Silent_p.G240G	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	240					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CCTCCCGCTTCCCGCGGAAGC	0.677000													4	6					0	0	0.00024832	0	0
ZBTB40	9923	broad.mit.edu	37	1	22839521	22839521	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:22839521C>T	ENST00000404138.1	+	13	3077	c.2566C>T	c.(2566-2568)Cgc>Tgc	p.R856C	ZBTB40_ENST00000375647.4_Missense_Mutation_p.R856C|ZBTB40_ENST00000374651.4_Missense_Mutation_p.R744C	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	856					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GAACCACCTTCGCCTTCACAC	0.562000													19	19					0	0	0.00074312	0	0
PGAM5	192111	broad.mit.edu	37	12	133294583	133294583	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:133294583A>G	ENST00000498926.2	+	5	654	c.596A>G	c.(595-597)gAa>gGa	p.E199G	PGAM5_ENST00000317555.2_Missense_Mutation_p.E199G|PXMP2_ENST00000545677.1_3'UTR|PGAM5_ENST00000541034.1_3'UTR|PGAM5_ENST00000543955.1_Missense_Mutation_p.E50G|PGAM5_ENST00000454808.2_Missense_Mutation_p.E50G	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	199						integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		CAGTATTACGAAGACGGAGCC	0.647000													10	25					0	0	0.000673444	0	0
MED29	55588	broad.mit.edu	37	19	39884203	39884203	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:39884203G>A	ENST00000315588.5	+	3	398	c.349G>A	c.(349-351)Gat>Aat	p.D117N	MED29_ENST00000599213.2_Missense_Mutation_p.D96N|MED29_ENST00000594368.1_Missense_Mutation_p.D96N	NM_017592.1	NP_060062.1	Q9NX70	MED29_HUMAN	mediator complex subunit 29	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			AAAGAGCAGTGATGGACCCAT	0.478000													15	215					0	0	0.00316338	0	0
LOC440040	440040	broad.mit.edu	37	11	49831878	49831878	+	RNA	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:49831878G>A	ENST00000527477.1	+	0	2103																											TATCAAACAGGACAAATAGGT	0.338000													21	38					0	0	0.00121646	0	0
C1orf94	84970	broad.mit.edu	37	1	34666435	34666435	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:34666435C>T	ENST00000488417.1	+	3	1192	c.1072C>T	c.(1072-1074)Ccc>Tcc	p.P358S	C1orf94_ENST00000373374.3_Missense_Mutation_p.P168S	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	168							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CAGCCAGTGGCCCCAGAGCCA	0.582000													16	41					0	0	0.000958276	0	0
NCR1	9437	broad.mit.edu	37	19	55417961	55417961	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:55417961G>A	ENST00000594765.1	+	3	176	c.151G>A	c.(151-153)Gga>Aga	p.G51R	NCR1_ENST00000598576.1_Missense_Mutation_p.G39R|NCR1_ENST00000447255.1_Missense_Mutation_p.G51R|NCR1_ENST00000357397.5_Intron|NCR1_ENST00000291890.4_Missense_Mutation_p.G51R|NCR1_ENST00000338835.5_Missense_Mutation_p.G51R|NCR1_ENST00000350790.5_Intron			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	51	Ig-like 1.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	p.G51R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CTGTTGCCAGGGAAATTATGG	0.488000													20	47					0	0	0.000958276	0	0
CHST14	113189	broad.mit.edu	37	15	40764480	40764480	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:40764480C>T	ENST00000306243.5	+	1	1321	c.1068C>T	c.(1066-1068)atC>atT	p.I356I	CHST14_ENST00000559991.1_Silent_p.I331I	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	356					carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		CTAAGTATATCCTGGACTTCT	0.622000													24	66					0	0	0.00278032	0	0
FBXL16	146330	broad.mit.edu	37	16	747153	747153	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr16:747153C>T	ENST00000397621.1	-	2	584	c.253G>A	c.(253-255)Gca>Aca	p.A85T	FBXL16_ENST00000324361.5_Missense_Mutation_p.A85T	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	85	Pro-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				TGCCCAGGTGCCAAGGCTGAG	0.701000													13	3					0	0	0.00244969	0	0
NLRP8	126205	broad.mit.edu	37	19	56467425	56467425	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:56467425G>A	ENST00000291971.3	+	3	2072	c.2001G>A	c.(1999-2001)atG>atA	p.M667I	NLRP8_ENST00000590542.1_Missense_Mutation_p.M667I	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	667						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGAACTTCATGAACGTGTGGA	0.522000													13	35					0	0	0.00185496	0	0
TTN	7273	broad.mit.edu	37	2	179622408	179622408	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:179622408G>A	ENST00000589042.1	-	45	10763	c.10539C>T	c.(10537-10539)ttC>ttT	p.F3513F	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Silent_p.F3467F|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3194	Ig-like 21.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCAAAATGGAAAACTACAT	0.448000													43	66					0	0	0.00222228	0	0
KIF5C	3800	broad.mit.edu	37	2	149840163	149840163	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:149840163G>A	ENST00000435030.1	+	15	1967	c.1599G>A	c.(1597-1599)ctG>ctA	p.L533L	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Silent_p.L301L|KIF5C_ENST00000414838.2_Silent_p.L438L			O60282	KIF5C_HUMAN	kinesin family member 5C	533					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AGAGAGAGCTGAGCCAGCTAC	0.413000													10	21					0	0	0.000978159	0	0
CTCFL	140690	broad.mit.edu	37	20	56083724	56083724	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr20:56083724C>T	ENST00000429804.2	-	8	2022	c.1462G>A	c.(1462-1464)Gat>Aat	p.D488N	CTCFL_ENST00000371196.2_Missense_Mutation_p.D538N|CTCFL_ENST00000539382.1_Missense_Mutation_p.D333N|CTCFL_ENST00000502686.2_Missense_Mutation_p.D276N|CTCFL_ENST00000433949.2_Missense_Mutation_p.D538N|CTCFL_ENST00000432255.2_Missense_Mutation_p.D394N|CTCFL_ENST00000243914.3_Missense_Mutation_p.D538N|CTCFL_ENST00000426658.2_3'UTR|CTCFL_ENST00000423479.2_Missense_Mutation_p.D538N|CTCFL_ENST00000422869.2_Missense_Mutation_p.D538N|CTCFL_ENST00000422109.2_Missense_Mutation_p.R406Q	NM_001269046.1	NP_001255975.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	538					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			AAATTTGCATCGTGGTATTTC	0.443000													58	133					0	0	0.00361006	0	0
ZNF280D	54816	broad.mit.edu	37	15	56961140	56961140	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:56961140G>A	ENST00000559237.1	-	13	2070	c.1387C>T	c.(1387-1389)Cgt>Tgt	p.R463C	ZNF280D_ENST00000396245.1_Missense_Mutation_p.R180C|ZNF280D_ENST00000267807.7_Missense_Mutation_p.R476C|ZNF280D_ENST00000559000.1_Missense_Mutation_p.R463C	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TTTGTACAACGATGTATTCCT	0.328000													33	15					0	0	0.00283554	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68704037	68704037	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:68704037C>G	ENST00000255078.3	+	13	2200	c.2089C>G	c.(2089-2091)Ccg>Gcg	p.P697A		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	697					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCGGAAGAAGCCGGCTGGGAA	0.667000													3	16					0	0	0.00024832	0	0
TLN2	83660	broad.mit.edu	37	15	62989971	62989971	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:62989971C>T	ENST00000561311.1	+	14	1607	c.1377C>T	c.(1375-1377)ggC>ggT	p.G459G	TLN2_ENST00000306829.6_Silent_p.G459G			Q9Y4G6	TLN2_HUMAN	talin 2	459					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGCGCTCGGGCTCCAGCGGGC	0.657000													28	26					0	0	0.00106085	0	0
DSCAML1	57453	broad.mit.edu	37	11	117376385	117376385	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:117376385G>A	ENST00000321322.6	-	9	2027	c.2026C>T	c.(2026-2028)Ccc>Tcc	p.P676S	DSCAML1_ENST00000527706.1_Missense_Mutation_p.P406S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	616	Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ACCACACAGGGAATGTAGAGC	0.627000													6	25					0	0	0.00198382	0	0
IGKV1D-42	28892	broad.mit.edu	37	2	90229434	90229434	+	RNA	SNP	G	G	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:90229434G>T	ENST00000390278.2	+	0	274																											TCGAGGTTCAGTGGCAGGGGA	0.483000													6	41					3.59834e-05	9.84926e-05	0.00116845	1	0
PLD1	5337	broad.mit.edu	37	3	171405323	171405323	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:171405323G>A	ENST00000356327.5	-	15	1661	c.1591C>T	c.(1591-1593)Cct>Tct	p.P531S	PLD1_ENST00000340989.4_Missense_Mutation_p.P531S|PLD1_ENST00000342215.6_Intron|PLD1_ENST00000351298.4_Missense_Mutation_p.P531S	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	531	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TTTTGAACAGGCTCATTTTTA	0.363000													20	8					0	0	0.00188189	0	0
CATSPERD	257062	broad.mit.edu	37	19	5778627	5778627	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:5778627G>A	ENST00000381624.3	+	22	2398	c.2337G>A	c.(2335-2337)agG>agA	p.R779R	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	779						integral to membrane											CCACAGCCAGGGCAGGCACAG	0.627000													23	30					0	0	0.000720815	0	0
KCNS1	3787	broad.mit.edu	37	20	43723592	43723592	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr20:43723592G>A	ENST00000306117.1	-	5	1896	c.1500C>T	c.(1498-1500)tcC>tcT	p.S500S	KCNS1_ENST00000537075.1_Silent_p.S500S	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	500						voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				AGGTTTCTCGGGATGTCTCCA	0.572000													56	115					0	0	0.00361006	0	0
CDC27	996	broad.mit.edu	37	17	45234714	45234714	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:45234714G>T	ENST00000066544.3	-	6	605	c.512C>A	c.(511-513)aCa>aAa	p.T171K	CDC27_ENST00000527547.1_Missense_Mutation_p.T171K|CDC27_ENST00000531206.1_Missense_Mutation_p.T171K|CDC27_ENST00000446365.2_Missense_Mutation_p.T110K|CDC27_ENST00000528748.1_5'UTR	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	171					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CTGTAAAGATGTGAATTTAAA	0.373000													3	19					2.56e-06	7.02902e-06	0.00024832	1	0
MROH7	374977	broad.mit.edu	37	1	55175737	55175737	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:55175737G>A	ENST00000421030.2	+	24	4134	c.3849G>A	c.(3847-3849)tgG>tgA	p.W1283*	MROH7_ENST00000409996.1_Nonsense_Mutation_p.W851*|MROH7_ENST00000454855.2_Nonsense_Mutation_p.W801*|MROH7_ENST00000414150.2_Intron	NM_001039464.2	NP_001034553.2			maestro heat-like repeat family member 7																		GGAACTCATGGGTGTGTTACT	0.632000													11	16					0	0	0.000978159	0	0
SYT9	143425	broad.mit.edu	37	11	7324557	7324557	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:7324557C>T	ENST00000318881.6	+	2	670	c.433C>T	c.(433-435)Cag>Tag	p.Q145*	SYT9_ENST00000396716.2_Nonsense_Mutation_p.Q113*	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	145						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GACGGGGATCCAGGAGAACTG	0.602000													4	10					0	0	0.00116845	0	0
TMED5	50999	broad.mit.edu	37	1	93621928	93621928	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:93621928G>T	ENST00000370282.3	-	3	885	c.400C>A	c.(400-402)Caa>Aaa	p.Q134K	TMED5_ENST00000483033.1_5'UTR|TMED5_ENST00000479918.1_Missense_Mutation_p.Q134K|TMED5_ENST00000370280.1_Missense_Mutation_p.Q134K	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain containing 5	134					transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		TCTTGTTCTTGTGCCTGTTCT	0.343000													12	48					0.00010058	0.000274451	0.00136819	1	0
VMO1	284013	broad.mit.edu	37	17	4689569	4689569	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:4689569C>T	ENST00000328739.5	-	1	158	c.79G>A	c.(79-81)Gat>Aat	p.D27N	VMO1_ENST00000441199.2_Missense_Mutation_p.D27N|VMO1_ENST00000354194.4_Missense_Mutation_p.D27N|VMO1_ENST00000416307.2_Missense_Mutation_p.D27N	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	27					vitelline membrane formation	extracellular region				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						TTCCGGCCATCTGTCTGTGCA	0.642000													3	7					0	0	6.4e-05	0	0
UGT1A9	54600	broad.mit.edu	37	2	234581341	234581341	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:234581341G>A	ENST00000354728.4	+	1	843	c.761G>A	c.(760-762)cGa>cAa	p.R254Q	UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron	NM_021027.2	NP_066307.1												p.R254Q(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)		TGGTTGTTGCGAACGGACTTT	0.443000													88	134					0	0	0.00361006	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51919175	51919175	+	Missense_Mutation	SNP	C	C	T	rs143183042	byFrequency	TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:51919175C>T	ENST00000353836.5	-	5	1222	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q	SIGLEC10_ENST00000436984.2_Missense_Mutation_p.R286Q|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.R276Q|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.R334Q|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.R334Q|SIGLEC10_ENST00000442846.3_Intron|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.R251Q|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.R276Q|SIGLEC10_ENST00000525998.1_Intron	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	334	Ig-like C2-type 2.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GTCCAGGGCTCGCTGCTGGGA	0.682000													28	46					0	0	0.000878237	0	0
UGT1A6	54578	broad.mit.edu	37	2	234602392	234602392	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:234602392C>T	ENST00000305139.6	+	1	881	c.742C>T	c.(742-744)Cag>Tag	p.Q248*	UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_5'UTR|AC114812.8_ENST00000439336.1_RNA	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		CACCTTATATCAGAAGGTCTC	0.393000													128	168					0	0	0.00361006	0	0
PITPNM1	9600	broad.mit.edu	37	11	67261018	67261018	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:67261018G>A	ENST00000356404.3	-	22	3430	c.3205C>T	c.(3205-3207)Ccg>Tcg	p.P1069S	PITPNM1_ENST00000534749.1_Missense_Mutation_p.P1069S|PITPNM1_ENST00000436757.2_Missense_Mutation_p.P1068S|PITPNM1_ENST00000526450.1_5'UTR	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	1069					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TGCATATCCGGCCGGCCTGTG	0.682000													5	1					0	0	0.000602214	0	0
C1orf51	148523	broad.mit.edu	37	1	150259145	150259145	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:150259145C>T	ENST00000290363.5	+	5	1386	c.937C>T	c.(937-939)Cca>Tca	p.P313S	C1orf51_ENST00000369095.1_Missense_Mutation_p.P313S|C1orf51_ENST00000369094.1_Missense_Mutation_p.P225S	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	313										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACCCCAGTCCCACCTACTAC	0.542000													15	61					0	0	0.000958276	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37422960	37422960	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr10:37422960C>T	ENST00000374660.1	+	5	665	c.566C>T	c.(565-567)gCt>gTt	p.A189V	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A189V|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A189V			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	245						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAACATTATGCTGTTACTTGT	0.378000													75	26					0	0	0.00361006	0	0
PPHLN1	51535	broad.mit.edu	37	12	42768707	42768707	+	Silent	SNP	C	C	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:42768707C>G	ENST00000432191.2	+	4	249	c.177C>G	c.(175-177)tcC>tcG	p.S59S	PPHLN1_ENST00000552761.1_Silent_p.S66S|PPHLN1_ENST00000395568.2_Silent_p.S114S|PPHLN1_ENST00000549190.1_Silent_p.S132S|PPHLN1_ENST00000449194.2_Silent_p.S114S|PPHLN1_ENST00000317560.9_Silent_p.S66S|PPHLN1_ENST00000256678.8_Silent_p.S13S|PPHLN1_ENST00000395580.3_Silent_p.S121S|PPHLN1_ENST00000358314.7_Silent_p.S114S|PPHLN1_ENST00000337898.6_Silent_p.S59S	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	114					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		TCTACTCTTCCCATTATGCGA	0.363000													8	41					0	0	0.000673444	0	0
MICALCL	84953	broad.mit.edu	37	11	12315468	12315468	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:12315468G>A	ENST00000256186.2	+	3	781	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	164					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		AGCCAGGAAGGAAGAAGAGGG	0.552000													5	36					0	0	0.00116845	0	0
RGL2	5863	broad.mit.edu	37	6	33264095	33264095	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:33264095T>C	ENST00000497454.1	-	6	973	c.478A>G	c.(478-480)Atc>Gtc	p.I160V	PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_Missense_Mutation_p.I78V|RGL2_ENST00000437840.2_5'UTR	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	160	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						AGTACAGAGATGGCTACCCTG	0.557000													4	38					0	0	0.000602214	0	0
GLRA1	2741	broad.mit.edu	37	5	151271929	151271929	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:151271929C>T	ENST00000274576.4	-	2	419	c.127G>A	c.(127-129)Gat>Aat	p.D43N	GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000545569.1_Intron|GLRA1_ENST00000455880.2_Missense_Mutation_p.D43N	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	43					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATTAGCTTATCCAGGAAATCC	0.502000													20	20					0	0	0.000958276	0	0
NUP188	23511	broad.mit.edu	37	9	131745239	131745239	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:131745239C>T	ENST00000372577.2	+	17	1749	c.1728C>T	c.(1726-1728)atC>atT	p.I576I		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	576					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ATAAGGTCATCAGTACAGACC	0.537000													44	55					0	0	0.00195071	0	0
PRKAR1B	5575	broad.mit.edu	37	7	590235	590235	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:590235C>T	ENST00000406797.1	-	11	1152	c.978G>A	c.(976-978)gaG>gaA	p.E326E	PRKAR1B_ENST00000360274.4_Silent_p.E326E|PRKAR1B_ENST00000537384.1_Silent_p.E326E|PRKAR1B_ENST00000544935.1_Silent_p.E326E|PRKAR1B_ENST00000403562.1_Silent_p.E326E	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	326					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		GCAGTGCAATCTCCCCTGGGG	0.667000													12	14					0	0	0.00316338	0	0
PHKA1	5255	broad.mit.edu	37	X	71840574	71840574	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chrX:71840574C>T	ENST00000339490.3	-	19	2438		c.e19+1		PHKA1_ENST00000373545.3_Intron|PHKA1_ENST00000541944.1_Intron|PHKA1_ENST00000373539.3_Splice_Site|PHKA1_ENST00000373542.4_Splice_Site	NM_001122670.1	NP_001116142.1	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)						glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GCATTACTCACTCTGTACATG	0.507000													6	4					0	0	0.00116845	0	0
SLC6A3	6531	broad.mit.edu	37	5	1422093	1422093	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:1422093G>A	ENST00000270349.9	-	5	817	c.690C>T	c.(688-690)atC>atT	p.I230I	SLC6A3_ENST00000453492.2_Silent_p.I230I	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	230					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CCAGGTCGTCGATGCCATGGC	0.652000													20	21					0	0	0.00152264	0	0
PARP15	165631	broad.mit.edu	37	3	122340362	122340362	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:122340362C>T	ENST00000483793.1	+	6	797	c.757C>T	c.(757-759)Cct>Tct	p.P253S	PARP15_ENST00000310366.4_Missense_Mutation_p.P145S|PARP15_ENST00000493645.1_Missense_Mutation_p.P145S|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000464300.2_Missense_Mutation_p.P379S			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		AATTCATGTTCCTGGGGGAAA	0.408000													12	38					0	0	0.00136819	0	0
PAK1	5058	broad.mit.edu	37	11	77090974	77090974	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:77090974G>A	ENST00000356341.3	-	3	787	c.256C>T	c.(256-258)Cat>Tat	p.H86Y	PAK1_ENST00000278568.4_Missense_Mutation_p.H86Y|PAK1_ENST00000530617.1_Missense_Mutation_p.H86Y|PAK1_ENST00000528203.1_5'UTR	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	86	Autoregulatory region.|CRIB.|GTPase-binding (By similarity).				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					AAACCGACATGAATTGTGTGT	0.408000													18	32					0	0	0.00121646	0	0
ECI2	10455	broad.mit.edu	37	6	4116158	4116158	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:4116158C>A	ENST00000465828.1	-	10	1330	c.1045G>T	c.(1045-1047)Gaa>Taa	p.E349*	C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000361538.2_Nonsense_Mutation_p.E349*|C6orf201_ENST00000430835.2_Intron|ECI2_ENST00000413766.2_Nonsense_Mutation_p.E212*|ECI2_ENST00000380118.3_Nonsense_Mutation_p.E379*|ECI2_ENST00000380125.2_Nonsense_Mutation_p.E349*|C6orf201_ENST00000380175.4_Intron			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	379					fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						TTTGTGCATTCATCTGATAGC	0.408000													18	74					0.000958276	0.00260272	0.000958276	1	0
ZNF528	84436	broad.mit.edu	37	19	52919193	52919193	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:52919193C>T	ENST00000360465.3	+	7	1514	c.1088C>T	c.(1087-1089)tCa>tTa	p.S363L	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AAAGCATTTTCAGTGCGTTCC	0.423000													22	30					0	0	0.00278032	0	0
HCK	3055	broad.mit.edu	37	20	30686836	30686836	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr20:30686836C>T	ENST00000534862.1	+	13	1579	c.1216C>T	c.(1216-1218)Cct>Tct	p.P406S	HCK_ENST00000520553.1_Missense_Mutation_p.P405S|HCK_ENST00000375862.2_Missense_Mutation_p.P425S|HCK_ENST00000518730.1_Missense_Mutation_p.P404S|HCK_ENST00000538448.1_Missense_Mutation_p.P405S|HCK_ENST00000375852.2_Missense_Mutation_p.P426S	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	426	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.P405S(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTGGACAGCTCCTGAAGCCAT	0.577000													10	70					0	0	0.000978159	0	0
DDR1	780	broad.mit.edu	37	6	30860240	30860240	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:30860240C>T	ENST00000324771.8	+	10	1568	c.1020C>T	c.(1018-1020)ggC>ggT	p.G340G	DDR1_ENST00000376575.3_Silent_p.G340G|DDR1_ENST00000376567.2_Silent_p.G340G|DDR1_ENST00000376570.4_Silent_p.G340G|DDR1_ENST00000513240.1_Silent_p.G340G|DDR1_ENST00000454612.2_Silent_p.G340G|DDR1_ENST00000508312.1_Silent_p.G358G|DDR1_ENST00000376569.3_Silent_p.G340G|DDR1_ENST00000452441.1_Silent_p.G340G|DDR1_ENST00000376568.3_Silent_p.G340G|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000361741.4_Silent_p.G71G|DDR1_ENST00000418800.2_Silent_p.G340G			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	340					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CCCTTGGCGGCCGTGTGGCTC	0.657000													25	7					0	0	0.000878237	0	0
ANKRD45	339416	broad.mit.edu	37	1	173593969	173593969	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:173593969C>T	ENST00000333279.2	-	5	747	c.687G>A	c.(685-687)ctG>ctA	p.L229L		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	245										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						CAATATCTTCCAGTTGTTGTC	0.383000													29	14					0	0	0.00127121	0	0
MUC5AC	4586	broad.mit.edu	37	11	1155154	1155154	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:1155154C>T	ENST00000356191.2	+	3	162	c.162C>T	c.(160-162)ctC>ctT	p.L54L						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GGGTCCCGCTCCGTGGGGCGA	0.667000													10	15					0	0	0.000673444	0	0
MED12	9968	broad.mit.edu	37	X	70356419	70356419	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chrX:70356419C>T	ENST00000333646.6	+	37	5513	c.5314C>T	c.(5314-5316)Ccg>Tcg	p.P1772S	MED12_ENST00000374080.3_Missense_Mutation_p.P1772S|MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374102.1_Missense_Mutation_p.P1772S	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1772	Interaction with CTNNB1 and GLI3.|Pro-rich.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AACTGACAAACCGGGGGCTGC	0.612000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						5	3					0	0	0.000602214	0	0
SCN7A	6332	broad.mit.edu	37	2	167313463	167313463	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:167313463T>C	ENST00000409855.1	-	10	1333	c.1207A>G	c.(1207-1209)Aga>Gga	p.R403G		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	403					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TCACCAACTCTCTGCTTTTCT	0.333000													8	7					0	0	0.00307968	0	0
MOB3A	126308	broad.mit.edu	37	19	2073401	2073401	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:2073401C>G	ENST00000357066.3	-	5	1026	c.647G>C	c.(646-648)tGc>tCc	p.C216S	MOB3A_ENST00000592280.1_Missense_Mutation_p.C216S|MOB3A_ENST00000592143.1_5'UTR	NM_130807.2	NP_570719.1	Q96BX8	MOL2A_HUMAN	MOB kinase activator 3A	216						intracellular	metal ion binding										CTCTCAGTGGCACATCCGGGC	0.617000													5	126					0	0	0.00116845	0	0
CPA2	1358	broad.mit.edu	37	7	129919431	129919431	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:129919431C>T	ENST00000222481.4	+	9	971	c.916C>T	c.(916-918)Cac>Tac	p.H306Y		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	306					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					CATTACCCTCCACAGCTATTC	0.438000													14	159					0	0	0.00244969	0	0
LGI2	55203	broad.mit.edu	37	4	25005407	25005407	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr4:25005407G>A	ENST00000382114.4	-	8	1489	c.1304C>T	c.(1303-1305)tCc>tTc	p.S435F		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	435						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GCGGGTAAGGGAAAGGTAGAG	0.532000													99	33					0	0	0.00361006	0	0
GIF	2694	broad.mit.edu	37	11	59611429	59611429	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:59611429G>T	ENST00000541311.1	-	2	338	c.104C>A	c.(103-105)gCc>gAc	p.A35D	GIF_ENST00000257248.2_Missense_Mutation_p.A60D			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	60					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						CAGATTCATGGCAATCAGGAT	0.547000													10	21					2.74318e-10	7.63923e-10	0.000442599	1	0
KLB	152831	broad.mit.edu	37	4	39439453	39439453	+	Silent	SNP	G	G	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr4:39439453G>C	ENST00000257408.4	+	3	1540	c.1443G>C	c.(1441-1443)gtG>gtC	p.V481V		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	481	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						TATTTTATGTGGATTTTAACA	0.413000													44	10					0	0	0.0025221	0	0
CACNA1A	773	broad.mit.edu	37	19	13476242	13476242	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:13476242G>A	ENST00000360228.5	-	5	672	c.673C>T	c.(673-675)Cct>Tct	p.P225S	CACNA1A_ENST00000573710.2_Missense_Mutation_p.P225S	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	225					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TGCAGCAAAGGGATCATCGCC	0.473000													21	26					0	0	0.00152264	0	0
VCAN	1462	broad.mit.edu	37	5	82835756	82835756	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:82835756G>A	ENST00000265077.3	+	8	7499	c.6934G>A	c.(6934-6936)Gga>Aga	p.G2312R	VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.G1325R|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2312	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAAAGAAGTTGGACCACTCGT	0.388000													12	36					0	0	0.00244969	0	0
PDGFRB	5159	broad.mit.edu	37	5	149505123	149505123	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:149505123G>A	ENST00000261799.4	-	12	2161	c.1692C>T	c.(1690-1692)atC>atT	p.I564I		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	564					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCTTCCATCGGATCTCGTAAC	0.572000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								16	30					0	0	0.000566183	0	0
EML1	2009	broad.mit.edu	37	14	100374010	100374010	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr14:100374010C>T	ENST00000262233.6	+	10	1183	c.1044C>T	c.(1042-1044)tcC>tcT	p.S348S	EML1_ENST00000327921.9_Silent_p.S336S|EML1_ENST00000334192.4_Silent_p.S367S	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	348						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TGGATGACTCCAACGACCATG	0.408000													31	22					0	0	0.00327116	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579081	44579081	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:44579081G>A	ENST00000289547.4	-	2	970	c.915C>T	c.(913-915)ttC>ttT	p.F305F	NPC1L1_ENST00000423141.1_Silent_p.F305F|NPC1L1_ENST00000381160.3_Silent_p.F305F|NPC1L1_ENST00000546276.1_Silent_p.F305F	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	305					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GGGCCACACGGAATCCCACAA	0.602000													30	74					0	0	0.001512	0	0
SELP	6403	broad.mit.edu	37	1	169565313	169565313	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:169565313C>T	ENST00000263686.6	-	12	1988	c.1951G>A	c.(1951-1953)Gga>Aga	p.G651R	SELP_ENST00000367794.2_Missense_Mutation_p.G589R|SELP_ENST00000458599.2_Missense_Mutation_p.G467R|SELP_ENST00000367792.2_Missense_Mutation_p.G467R|SELP_ENST00000367791.2_Missense_Mutation_p.G465R|SELP_ENST00000367788.2_Missense_Mutation_p.G589R|SELP_ENST00000367793.2_Missense_Mutation_p.G589R|SELP_ENST00000367786.2_Missense_Mutation_p.G589R	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	651	Sushi 8.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TACATGGTTCCCTGCCCAGGA	0.488000													109	68					0	0	0.00361006	0	0
SCN2A	6326	broad.mit.edu	37	2	166179830	166179830	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:166179830C>T	ENST00000357398.3	+	12	2126	c.1836C>T	c.(1834-1836)ttC>ttT	p.F612F	SCN2A_ENST00000375427.2_Silent_p.F612F|SCN2A_ENST00000283256.6_Silent_p.F612F|SCN2A_ENST00000375437.2_Silent_p.F612F			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	612					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ACTCTCTGTTCGTGCCGCACA	0.557000													10	16					0	0	0.000673444	0	0
EGFR	1956	broad.mit.edu	37	7	55223588	55223588	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:55223588G>A	ENST00000275493.2	+	8	1132	c.955G>A	c.(955-957)Gag>Aag	p.E319K	EGFR_ENST00000344576.2_Missense_Mutation_p.E319K|EGFR_ENST00000455089.1_Missense_Mutation_p.E274K|EGFR_ENST00000342916.3_Missense_Mutation_p.E319K|EGFR_ENST00000454757.2_Missense_Mutation_p.E266K|EGFR_ENST00000442591.1_Missense_Mutation_p.E319K|EGFR_ENST00000420316.2_Missense_Mutation_p.E319K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	319					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			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)	CTATGAGATGGAGGAAGACGG	0.597000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			27	21					0	0	0.000878237	0	0
FAT2	2196	broad.mit.edu	37	5	150932750	150932750	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:150932750A>G	ENST00000261800.5	-	5	4156	c.4144T>C	c.(4144-4146)Ttc>Ctc	p.F1382L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1382	Cadherin 12.				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)			GAGATGTTGAACCAGAAGAGT	0.547000													22	26					0	0	0.00395357	0	0
MOV10	4343	broad.mit.edu	37	1	113232514	113232514	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:113232514C>T	ENST00000369644.1	+	6	1491	c.462C>T	c.(460-462)ttC>ttT	p.F154F	MOV10_ENST00000369645.1_Silent_p.F210F|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Silent_p.F210F|MOV10_ENST00000357443.2_Silent_p.F210F			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	210					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TGGGCTACTTCCCAGCCACAG	0.577000													30	35					0	0	0.00178596	0	0
SLC17A6	57084	broad.mit.edu	37	11	22396400	22396400	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:22396400A>G	ENST00000263160.3	+	9	1578	c.1141A>G	c.(1141-1143)Act>Gct	p.T381A		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	381					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GATTCTTTCAACTACGACAGT	0.378000													55	65					0	0	0.00361006	0	0
EFNA5	1946	broad.mit.edu	37	5	106763026	106763026	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:106763026G>A	ENST00000333274.6	-	2	591	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W	EFNA5_ENST00000509503.1_Missense_Mutation_p.R104W	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	104					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		GAGTGAGGCCGGTTACATTCC	0.468000													21	63					0	0	0.00152264	0	0
HAVCR1	26762	broad.mit.edu	37	5	156479463	156479463	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:156479463C>T	ENST00000339252.3	-	3	1114	c.582G>A	c.(580-582)acG>acA	p.T194T	HAVCR1_ENST00000523175.1_Silent_p.T194T|HAVCR1_ENST00000544197.1_Silent_p.T194T|HAVCR1_ENST00000425854.1_Silent_p.T194T|HAVCR1_ENST00000522693.1_Silent_p.T194T	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	189	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity	p.T194T(1)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGGAATGCTCGTTGTCGTTG	0.463000													132	489					0	0	0.00361006	0	0
CNTF	1270	broad.mit.edu	37	11	58391965	58391965	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:58391965C>T	ENST00000361987.4	+	2	653	c.573C>T	c.(571-573)agC>agT	p.S191S	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	191					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CACGTGGGAGCCATTATATTG	0.473000													11	37					0	0	0.000978159	0	0
AFF4	27125	broad.mit.edu	37	5	132270135	132270135	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:132270135G>A	ENST00000265343.5	-	3	1001	c.622C>T	c.(622-624)Caa>Taa	p.Q208*	AFF4_ENST00000378595.3_Nonsense_Mutation_p.Q208*|AFF4_ENST00000491831.1_5'UTR	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	208	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGGAGCGTTGATGTTCCTTG	0.488000													12	43					0	0	0.00136819	0	0
SRBD1	55133	broad.mit.edu	37	2	45801787	45801787	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:45801787G>C	ENST00000263736.4	-	8	1210	c.1148C>G	c.(1147-1149)aCg>aGg	p.T383R		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	383					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GAAGTCAAGCGTGTCTTTGTC	0.393000													8	75					0	0	0.000274275	0	0
SGOL2	151246	broad.mit.edu	37	2	201434636	201434636	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:201434636C>T	ENST00000409203.3	+	6	812	c.724C>T	c.(724-726)Cat>Tat	p.H242Y	SGOL2_ENST00000357799.4_Intron			Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	0					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TTTAAAAATTCATTTTGAGTA	0.294000													26	30					0	0	0.00395357	0	0
CUL9	23113	broad.mit.edu	37	6	43156281	43156281	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:43156281G>A	ENST00000252050.4	+	8	2092	c.2008G>A	c.(2008-2010)Ggt>Agt	p.G670S	CUL9_ENST00000372647.2_Missense_Mutation_p.G670S|CUL9_ENST00000354495.3_Missense_Mutation_p.G560S	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	670					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AGCCTTGCGGGGTCCCGGTCC	0.532000													37	19					0	0	0.00128727	0	0
TRPM1	4308	broad.mit.edu	37	15	31354898	31354898	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:31354898T>C	ENST00000542188.1	-	8	1337	c.1024A>G	c.(1024-1026)Aat>Gat	p.N342D	TRPM1_ENST00000397795.2_Missense_Mutation_p.N303D|TRPM1_ENST00000256552.6_Missense_Mutation_p.N325D	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	303					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AGGGACTCATTTATTATTCTG	0.333000													20	25					0	0	0.00121646	0	0
RP1	6101	broad.mit.edu	37	8	55540301	55540301	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:55540301G>T	ENST00000220676.1	+	4	4007	c.3859G>T	c.(3859-3861)Ggt>Tgt	p.G1287C		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1287					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGATGGTTATGGTGTGGATCA	0.408000													18	66					4.96729e-08	1.37244e-07	0.00121646	1	0
OR7A5	26659	broad.mit.edu	37	19	14938289	14938289	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:14938289G>A	ENST00000322301.3	-	2	852	c.765C>T	c.(763-765)atC>atT	p.I255I	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Silent_p.I255I			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						ACACCCCTAGGATTGCACCAT	0.488000													21	31					0	0	0.00188189	0	0
RASAL1	8437	broad.mit.edu	37	12	113565627	113565627	+	Silent	SNP	G	G	C	rs113002402		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:113565627G>C	ENST00000546530.1	-	5	573	c.288C>G	c.(286-288)gcC>gcG	p.A96A	RASAL1_ENST00000261729.5_Silent_p.A96A|RASAL1_ENST00000446861.3_Silent_p.A96A|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Silent_p.A96A	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	96					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CTCGGGGGTCGGCTGTAATCG	0.652000													7	21					0	0	0.00307968	0	0
CDH13	1012	broad.mit.edu	37	16	83781839	83781839	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr16:83781839C>T	ENST00000566620.1	+	11	1955	c.1665C>T	c.(1663-1665)ttC>ttT	p.F555F	CDH13_ENST00000268613.10_Silent_p.F602F|RP11-298D21.1_ENST00000563981.1_RNA|RP11-298D21.1_ENST00000570056.1_RNA|RP11-298D21.1_ENST00000569165.1_RNA|CDH13_ENST00000428848.3_Silent_p.F516F	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	555	Cadherin 4.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CTGCTCTCTTCCTGGCAATTG	0.433000													66	97					0	0	0.00361006	0	0
TMEM184A	202915	broad.mit.edu	37	7	1595081	1595081	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:1595081G>A	ENST00000297477.5	-	2	356	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	14						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GACACCAGGGGGACGCCGGCT	0.677000													43	41					0	0	0.00361006	0	0
ZNF471	57573	broad.mit.edu	37	19	57036825	57036825	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:57036825A>T	ENST00000308031.5	+	5	1522	c.1389A>T	c.(1387-1389)gaA>gaT	p.E463D	ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	463					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		AATGCAAGGAATGTGGGAAAG	0.373000													6	60					0	0	0.00198382	0	0
CSMD1	64478	broad.mit.edu	37	8	2857542	2857542	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:2857542C>T	ENST00000520002.1	-	54	8699	c.8144G>A	c.(8143-8145)gGa>gAa	p.G2715E	CSMD1_ENST00000537824.1_Missense_Mutation_p.G2714E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2656E|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2715E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G2657E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2657E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2715	Sushi 18.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACGGAAGTTCCCACAAGCCG	0.517000													10	17					0	0	0.000673444	0	0
DSG1	1828	broad.mit.edu	37	18	28918330	28918330	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr18:28918330G>A	ENST00000257192.4	+	10	1530	c.1318G>A	c.(1318-1320)Ggc>Agc	p.G440S		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	440	Cadherin 4.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TTCAAGAACAGGCAAACTCAC	0.333000													25	24					0	0	0.00395357	0	0
FRG2B	441581	broad.mit.edu	37	10	135438925	135438925	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr10:135438925C>T	ENST00000443774.1	-	4	567	c.518G>A	c.(517-519)cGa>cAa	p.R173Q	FRG2B_ENST00000425520.1_Missense_Mutation_p.R172Q			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	172						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CAAGCTTTTTCGAATTGACGG	0.562000													8	97					0	0	0.000978159	0	0
RASAL1	8437	broad.mit.edu	37	12	113537799	113537799	+	Missense_Mutation	SNP	G	G	A	rs149283617		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:113537799G>A	ENST00000546530.1	-	22	2641	c.2356C>T	c.(2356-2358)Cgt>Tgt	p.R786C	RASAL1_ENST00000261729.5_Missense_Mutation_p.R784C|RASAL1_ENST00000446861.3_Missense_Mutation_p.R756C|RASAL1_ENST00000548055.1_Missense_Mutation_p.R785C	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	784					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	p.R784C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TCGTGGGCACGATCCAGGTCT	0.667000													14	10					0	0	0.00244969	0	0
CSTF3	1479	broad.mit.edu	37	11	33121205	33121205	+	Nonsense_Mutation	SNP	A	A	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:33121205A>C	ENST00000323959.4	-	11	1024	c.885T>G	c.(883-885)taT>taG	p.Y295*	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	295					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						GGGCAGCTTCATACCAAATAT	0.383000													16	19					0	0	0.00121646	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733599	56733599	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:56733599C>G	ENST00000587340.1	-	7	1531	c.836G>C	c.(835-837)aGa>aCa	p.R279T	ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.R278T|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.R133T|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.R162T|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.R279T			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	279					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CGAAGCTTCTCTCTCCACAAC	0.532000													47	59					0	0	0.00361006	0	0
TJP3	27134	broad.mit.edu	37	19	3738625	3738625	+	Missense_Mutation	SNP	G	G	A	rs150612107	byFrequency	TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:3738625G>A	ENST00000541714.2	+	12	1819	c.1357G>A	c.(1357-1359)Gag>Aag	p.E453K	TJP3_ENST00000382008.3_Missense_Mutation_p.E467K|TJP3_ENST00000587686.1_Missense_Mutation_p.E472K|TJP3_ENST00000262968.9_Missense_Mutation_p.E486K|TJP3_ENST00000589378.1_Missense_Mutation_p.E462K|TJP3_ENST00000539908.2_Missense_Mutation_p.E417K	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	467	PDZ 3.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCACCAGGCGAGGAGATGGA	0.607000													42	54					0	0	0.00361006	0	0
PTPRB	5787	broad.mit.edu	37	12	70946612	70946612	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:70946612C>T	ENST00000334414.6	-	21	5376	c.5332G>A	c.(5332-5334)Gat>Aat	p.D1778N	PTPRB_ENST00000550857.1_Missense_Mutation_p.D1470N|PTPRB_ENST00000261266.5_Missense_Mutation_p.D1560N|PTPRB_ENST00000538708.1_Missense_Mutation_p.D1470N|PTPRB_ENST00000550358.1_Missense_Mutation_p.D1690N|PTPRB_ENST00000451516.2_Missense_Mutation_p.D1470N	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1560	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGAGTGGGATCGCATTTTCCA	0.423000													33	17					0	0	0.00209593	0	0
PLIN3	10226	broad.mit.edu	37	19	4839218	4839218	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:4839218C>T	ENST00000221957.4	-	8	1467	c.1291G>A	c.(1291-1293)Gag>Aag	p.E431K	PLIN3_ENST00000585479.1_Missense_Mutation_p.E430K|PLIN3_ENST00000592528.1_Missense_Mutation_p.E419K	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	431					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	TTCTTCTCCTCCGGGGCTTTC	0.587000													36	49					0	0	0.000953801	0	0
SLC1A6	6511	broad.mit.edu	37	19	15067470	15067470	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:15067470C>T	ENST00000430939.2	-	6	924	c.795G>A	c.(793-795)atG>atA	p.M265I	SLC1A6_ENST00000221742.3_Missense_Mutation_p.M329I|SLC1A6_ENST00000600144.1_Intron			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	329					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CCATGTCTTCCATCTCCAGAA	0.587000													15	25					0	0	0.000566183	0	0
POU5F1B	5462	broad.mit.edu	37	8	128428576	128428576	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:128428576G>A	ENST00000465342.2	+	2	1622	c.465G>A	c.(463-465)caG>caA	p.Q155Q	CASC8_ENST00000502082.1_RNA|CASC8_ENST00000523825.1_RNA|CASC8_ENST00000501396.1_RNA|POU5F1B_ENST00000391675.1_Silent_p.Q155Q			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	155	POU-specific.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						TCCTGAAGCAGAAGAGGATCA	0.522000													8	5					0	0	0.000274275	0	0
RELN	5649	broad.mit.edu	37	7	103136328	103136328	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:103136328C>T	ENST00000428762.1	-	57	9370	c.9211G>A	c.(9211-9213)Gaa>Aaa	p.E3071K	RELN_ENST00000343529.5_Missense_Mutation_p.E3071K|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.E3071K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3071					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTCCAGTTTTCTTCATGGGAA	0.378000													70	7					0	0	0.00361006	0	0
ALK	238	broad.mit.edu	37	2	29917782	29917782	+	Missense_Mutation	SNP	C	C	T	rs56077855		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:29917782C>T	ENST00000389048.3	-	3	1792	c.886G>A	c.(886-888)Gag>Aag	p.E296K	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	296	MAM 1.		E -> Q (in dbSNP:rs56077855).		protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GAGGCCTCCTCGGAGGGGATG	0.617000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				54	61					0	0	0.00361006	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198755	170198755	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:170198755C>T	ENST00000231706.4	-	7	1631	c.1316G>A	c.(1315-1317)gGt>gAt	p.G439D	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	439						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CTTGACAAAACCATCAATGTC	0.507000													33	4					0	0	0.00178596	0	0
NRXN2	9379	broad.mit.edu	37	11	64390348	64390348	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:64390348C>T	ENST00000265459.6	-	21	4511	c.4050G>A	c.(4048-4050)gcG>gcA	p.A1350A	NRXN2_ENST00000377551.1_Silent_p.A1350A|NRXN2_ENST00000301894.2_Silent_p.A304A|NRXN2_ENST00000409571.1_Silent_p.A1343A|NRXN2_ENST00000377559.3_Silent_p.A1280A	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1350					cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCGTGGTCTCCGCACTGAGCA	0.701000													7	5					0	0	0.00198382	0	0
LAMC3	10319	broad.mit.edu	37	9	133942459	133942459	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:133942459C>T	ENST00000361069.4	+	14	2593	c.2460C>T	c.(2458-2460)gcC>gcT	p.A820A	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	820	Laminin EGF-like 8.				cell adhesion	basement membrane|membrane	structural molecule activity	p.A820A(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		ACCCCAATGCCGTGGGCAACT	0.637000													11	15					0	0	0.000673444	0	0
CDH26	60437	broad.mit.edu	37	20	58571493	58571493	+	Translation_Start_Site	SNP	T	T	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr20:58571493T>G	ENST00000350849.6	+	0	65				CDH26_ENST00000244049.3_De_novo_Start_OutOfFrame|CDH26_ENST00000244047.5_Intron|CDH26_ENST00000348616.4_Intron|CDH26_ENST00000497614.1_Intron	NM_021810.4	NP_068582.2	Q8IXH8	CAD26_HUMAN	cadherin 26						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			Tattgattaattcaacaaaca	0.393000													5	5					0	0	0.000602214	0	0
OBSCN	84033	broad.mit.edu	37	1	228403514	228403514	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:228403514C>T	ENST00000570156.2	+	6	2153	c.2079C>T	c.(2077-2079)atC>atT	p.I693I	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.I693I|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.I693I	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	693	Ig-like 6.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGAGCAGCATCCGGATGGAGG	0.667000													9	7					0	0	0.000673444	0	0
UNC5C	8633	broad.mit.edu	37	4	96140178	96140178	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr4:96140178G>A	ENST00000453304.1	-	9	1935	c.1587C>T	c.(1585-1587)tcC>tcT	p.S529S	UNC5C_ENST00000506749.1_Silent_p.S548S	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	529	ZU5.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	p.S529S(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ATGCGGTACAGGATGGATCAG	0.488000													22	8					0	0	0.00332997	0	0
MUC16	94025	broad.mit.edu	37	19	9063486	9063486	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:9063486G>A	ENST00000397910.4	-	3	24163	c.23960C>T	c.(23959-23961)tCc>tTc	p.S7987F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7989	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAATGTGGAGGAAACAGGAGA	0.473000													18	20					0	0	0.00074312	0	0
CD84	8832	broad.mit.edu	37	1	160523167	160523167	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:160523167C>T	ENST00000311224.4	-	4	827	c.761G>A	c.(760-762)gGt>gAt	p.G254D	CD84_ENST00000368048.3_Splice_Site|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368051.3_Splice_Site|CD84_ENST00000534968.1_Splice_Site|CD84_ENST00000368054.3_Splice_Site	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	254					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GAAAATCCTACCTTGTCTTCT	0.463000													11	17					0	0	0.000978159	0	0
WBP2NL	164684	broad.mit.edu	37	22	42418337	42418337	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr22:42418337G>T	ENST00000328823.9	+	5	522	c.491G>T	c.(490-492)tGc>tTc	p.C164F	WBP2NL_ENST00000543212.1_Missense_Mutation_p.C90F	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	164					egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						GGGAATATGTGCACTCCACAG	0.448000													30	17					3.11337e-16	8.7393e-16	0.00283554	1	0
CDH4	1002	broad.mit.edu	37	20	60318780	60318780	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr20:60318780G>A	ENST00000360469.5	+	3	419	c.331G>A	c.(331-333)Gag>Aag	p.E111K	CDH4_ENST00000543233.1_Missense_Mutation_p.E37K|RP11-429E11.2_ENST00000447909.1_RNA|RP11-429E11.2_ENST00000442888.1_RNA	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	111					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCAGACAGCAGAGAAATGGGA	0.642000													6	8					0	0	0.00307968	0	0
PCSK5	5125	broad.mit.edu	37	9	78682956	78682956	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:78682956G>A	ENST00000545128.1	+	6	1256	c.718G>A	c.(718-720)Gga>Aga	p.G240R	PCSK5_ENST00000376752.4_Missense_Mutation_p.G240R|PCSK5_ENST00000376767.3_Missense_Mutation_p.G240R	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	240	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CGCCAAGATCGGAGGTATGGG	0.502000													27	33					0	0	0.00395357	0	0
OR5L2	26338	broad.mit.edu	37	11	55595042	55595042	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:55595042C>T	ENST00000378397.1	+	1	348	c.348C>T	c.(346-348)gcC>gcT	p.A116A		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCCTGCTGGCCGTGATGGCCT	0.507000										HNSCC(27;0.073)			36	73					0	0	0.00327116	0	0
LILRA1	11024	broad.mit.edu	37	19	55112240	55112240	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:55112240G>A	ENST00000453777.1	+	8	998	c.828G>A	c.(826-828)ggG>ggA	p.G276G	LILRA1_ENST00000251372.3_Silent_p.G476G|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	476	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGGTCCTCGGGATTCTGCTAT	0.572000													20	17					0	0	0.00121646	0	0
CNTN6	27255	broad.mit.edu	37	3	1367620	1367620	+	Silent	SNP	A	A	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:1367620A>G	ENST00000446702.2	+	9	1695	c.1068A>G	c.(1066-1068)gaA>gaG	p.E356E	CNTN6_ENST00000350110.2_Silent_p.E356E|CNTN6_ENST00000539053.1_Silent_p.E284E			Q9UQ52	CNTN6_HUMAN	contactin 6	356	Ig-like C2-type 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAAATGGTGAACGACTCAACC	0.358000													5	32					0	0	0.00116845	0	0
CEACAM6	4680	broad.mit.edu	37	19	42265352	42265352	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:42265352G>A	ENST00000199764.6	+	3	838	c.620G>A	c.(619-621)aGg>aAg	p.R207K	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	207	Ig-like C2-type 1.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		AGCGTCAAAAGGAACGATGCA	0.527000													51	64					0	0	0.00361006	0	0
MICAL2	9645	broad.mit.edu	37	11	12284034	12284034	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:12284034C>T	ENST00000256194.4	+	27	3630	c.3342C>T	c.(3340-3342)ttC>ttT	p.F1114F	MICAL2_ENST00000527546.1_Silent_p.F924F|MICAL2_ENST00000537344.1_Silent_p.F924F|MICAL2_ENST00000342902.5_Silent_p.F1093F|RP11-265D17.2_ENST00000527288.1_RNA	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1114						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CAGTTCATTTCAGCCTTCCAG	0.443000													39	87					0	0	0.00285205	0	0
CDH17	1015	broad.mit.edu	37	8	95174318	95174318	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:95174318G>A	ENST00000027335.3	-	11	1479	c.1355C>T	c.(1354-1356)tCa>tTa	p.S452L	CDH17_ENST00000441892.2_Missense_Mutation_p.S238L|CDH17_ENST00000450165.2_Missense_Mutation_p.S452L	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	452	Cadherin 5.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			ACTCACATCTGATTTTTCAAA	0.333000													20	15					0	0	0.00152264	0	0
CEP63	80254	broad.mit.edu	37	3	134267997	134267997	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:134267997A>C	ENST00000337090.3	+	10	1334	c.1161A>C	c.(1159-1161)gaA>gaC	p.E387D	CEP63_ENST00000383229.3_Missense_Mutation_p.E387D|CEP63_ENST00000354446.3_Missense_Mutation_p.E341D|CEP63_ENST00000606977.1_Missense_Mutation_p.E387D|CEP63_ENST00000513612.2_Missense_Mutation_p.E387D|CEP63_ENST00000332047.5_Missense_Mutation_p.E341D			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	387					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATAACAATGAATACAAAGCAG	0.373000													16	10					0	0	0.00400662	0	0
TMEM52	339456	broad.mit.edu	37	1	1849327	1849327	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:1849327G>A	ENST00000378602.3	-	2	819	c.579C>T	c.(577-579)gcC>gcT	p.A193A	TMEM52_ENST00000310991.3_Silent_p.A208A			Q8NDY8	TMM52_HUMAN	transmembrane protein 52	208						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCCTTCAAGGGGCACCAGGGC	0.622000													52	45					0	0	0.00361006	0	0
NEB	4703	broad.mit.edu	37	2	152422108	152422108	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:152422108C>T	ENST00000397345.3	-	116	18475	c.18273G>A	c.(18271-18273)aaG>aaA	p.K6091K	NEB_ENST00000409198.1_Silent_p.K4390K|NEB_ENST00000427231.2_Silent_p.K6091K|NEB_ENST00000603639.1_Silent_p.K6091K|NEB_ENST00000604864.1_Silent_p.K6091K|NEB_ENST00000172853.10_Silent_p.K4390K	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	6085					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGGCATTTTTCTTATATTTGA	0.393000													3	6					0	0	6.4e-05	0	0
GFM2	84340	broad.mit.edu	37	5	74034151	74034151	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:74034151G>A	ENST00000296805.3	-	14	1769	c.1312C>T	c.(1312-1314)Ctt>Ttt	p.L438F	GFM2_ENST00000345239.2_Missense_Mutation_p.L391F|GFM2_ENST00000509430.1_Missense_Mutation_p.L438F|GFM2_ENST00000427854.2_Missense_Mutation_p.L438F	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	438					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		ACATGTTTAAGCCCAACAGTC	0.353000													33	45					0	0	0.00327116	0	0
PRPF31	26121	broad.mit.edu	37	19	54625309	54625309	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:54625309C>T	ENST00000321030.4	+	4	658	c.309C>T	c.(307-309)atC>atT	p.I103I	PRPF31_ENST00000391755.1_Silent_p.I103I|PRPF31_ENST00000498612.1_3'UTR|PRPF31_ENST00000419967.1_Silent_p.I103I|AC012314.8_ENST00000452097.1_RNA	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	103					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCGTGGAGATCGAAAACGAGC	0.637000													4	7					0	0	0.00024832	0	0
CATSPER2	117155	broad.mit.edu	37	15	43924526	43924526	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:43924526G>A	ENST00000355438.2	-	11	1428	c.1214C>T	c.(1213-1215)tCt>tTt	p.S405F	CATSPER2_ENST00000321596.5_Silent_p.L478L|CATSPER2_ENST00000396879.1_Silent_p.L476L|CATSPER2_ENST00000381761.1_Silent_p.L482L|CATSPER2_ENST00000354127.4_Silent_p.L476L|STRC_ENST00000541030.1_Intron			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	0	Ser-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AGCCCGGGCAGATTTTCGTGC	0.458000													10	3					0	0	0.000442599	0	0
CSMD3	114788	broad.mit.edu	37	8	113303816	113303816	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:113303816C>T	ENST00000297405.5	-	56	9141	c.8897G>A	c.(8896-8898)gGa>gAa	p.G2966E	CSMD3_ENST00000455883.2_Missense_Mutation_p.G2797E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2896E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2926E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2966	Sushi 20.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAAAAAATATCCAGGATTGCA	0.338000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			13	28					0	0	0.00185496	0	0
DPP6	1804	broad.mit.edu	37	7	154379741	154379741	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:154379741G>A	ENST00000406326.1	+	6	1412	c.1009G>A	c.(1009-1011)Ggg>Agg	p.G337R	DPP6_ENST00000427557.1_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GCTCACCCCGGGGATAATGCA	0.597000													128	36					0	0	0.00361006	0	0
SCN5A	6331	broad.mit.edu	37	3	38592490	38592490	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:38592490G>A	ENST00000413689.1	-	28	5566	c.5373C>T	c.(5371-5373)ttC>ttT	p.F1791F	SCN5A_ENST00000425664.1_Silent_p.F1773F|SCN5A_ENST00000423572.2_Silent_p.F1790F|SCN5A_ENST00000414099.2_Silent_p.F1773F|SCN5A_ENST00000450102.2_Silent_p.F1737F|SCN5A_ENST00000451551.2_Silent_p.F1737F|SCN5A_ENST00000455624.2_Silent_p.F1758F|SCN5A_ENST00000443581.1_Silent_p.F1790F|SCN5A_ENST00000449557.2_Silent_p.F1737F|SCN5A_ENST00000333535.4_Silent_p.F1791F	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1791					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AGAACATATCGAAGTCGTCCT	0.522000													7	27					0	0	0.00307968	0	0
ANAPC5	51433	broad.mit.edu	37	12	121779840	121779840	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:121779840G>A	ENST00000261819.3	-	5	744	c.623C>T	c.(622-624)tCc>tTc	p.S208F	ANAPC5_ENST00000536366.1_Missense_Mutation_p.S87F|ANAPC5_ENST00000441917.2_Missense_Mutation_p.S109F|ANAPC5_ENST00000344395.4_Missense_Mutation_p.S109F|ANAPC5_ENST00000541887.1_Missense_Mutation_p.S208F	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	208					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTGTTTTTGGGACAGAGGCCC	0.318000													101	113					0	0	0.00361006	0	0
OR5I1	10798	broad.mit.edu	37	11	55703451	55703451	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:55703451G>A	ENST00000301532.3	-	1	425	c.426C>T	c.(424-426)atC>atT	p.I142I		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ACCGCATACAGATGCCCCTAG	0.438000													21	30					0	0	0.000720815	0	0
WDFY3	23001	broad.mit.edu	37	4	85657478	85657478	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr4:85657478G>A	ENST00000322366.6	-	42	7167	c.6760C>T	c.(6760-6762)Cat>Tat	p.H2254Y	WDFY3_ENST00000295888.4_Missense_Mutation_p.H2254Y			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2254						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTCTTTTCATGGGCTATTAAA	0.353000													17	2					0	0	0.00400662	0	0
OLFML2B	25903	broad.mit.edu	37	1	161987262	161987262	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:161987262G>A	ENST00000294794.3	-	3	897	c.474C>T	c.(472-474)ttC>ttT	p.F158F	OLFML2B_ENST00000367940.2_Silent_p.F158F	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	158										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CCAGGCCATAGAACGCTCCTT	0.493000													21	92					0	0	0.00278032	0	0
TMEM176B	28959	broad.mit.edu	37	7	150490280	150490280	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:150490280G>A	ENST00000447204.2	-	5	868	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	TMEM176B_ENST00000429904.2_Missense_Mutation_p.R166C|TMEM176B_ENST00000326442.5_Missense_Mutation_p.R166C|TMEM176B_ENST00000434545.1_Missense_Mutation_p.R166C|TMEM176B_ENST00000450753.2_Missense_Mutation_p.R129C|TMEM176B_ENST00000492607.1_Missense_Mutation_p.R166C	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	166					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGTCTGAGCGATCACACACA	0.507000													100	29					0	0	0.00361006	0	0
ABLIM3	22885	broad.mit.edu	37	5	148579890	148579890	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:148579890C>T	ENST00000506113.1	+	4	829	c.347C>T	c.(346-348)cCc>cTc	p.P116L	RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000356541.3_Missense_Mutation_p.P116L|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.P116L|ABLIM3_ENST00000309868.7_Missense_Mutation_p.P116L|ABLIM3_ENST00000504238.1_Missense_Mutation_p.P116L|ABLIM3_ENST00000508983.1_Missense_Mutation_p.P116L			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	116	LIM zinc-binding 2.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCCTTTCCCCATTGGAGAC	0.512000													16	15					0	0	0.000566183	0	0
PRDM16	63976	broad.mit.edu	37	1	3321339	3321339	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:3321339C>T	ENST00000378398.3	+	8	1006	c.924C>T	c.(922-924)cgC>cgT	p.R308R	PRDM16_ENST00000442529.2_Silent_p.R307R|PRDM16_ENST00000441472.2_Silent_p.R307R|PRDM16_ENST00000514189.1_Silent_p.R308R|PRDM16_ENST00000511072.1_Silent_p.R308R|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000270722.5_Silent_p.R307R|PRDM16_ENST00000378391.2_Silent_p.R307R			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	307					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	p.R307R(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CGGAGGAGCGCGAGTACAAAT	0.627000			T	EVI1	"""MDS, AML"""								9	12					0	0	0.000442599	0	0
WBP2NL	164684	broad.mit.edu	37	22	42418336	42418336	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr22:42418336T>G	ENST00000328823.9	+	5	521	c.490T>G	c.(490-492)Tgc>Ggc	p.C164G	WBP2NL_ENST00000543212.1_Missense_Mutation_p.C90G	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	164					egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						AGGGAATATGTGCACTCCACA	0.453000													29	17					0	0	0.0024448	0	0
MYH1	4619	broad.mit.edu	37	17	10411227	10411227	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:10411227G>A	ENST00000226207.5	-	17	2038	c.1944C>T	c.(1942-1944)ttC>ttT	p.F648F	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	648	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ACACAGTCTGGAAAGAAGAAC	0.408000													53	13					0	0	0.00361006	0	0
BRI3BP	140707	broad.mit.edu	37	12	125509542	125509542	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:125509542A>T	ENST00000341446.8	+	3	413	c.322A>T	c.(322-324)Aac>Tac	p.N108Y		NM_080626.5	NP_542193.3	Q8WY22	BRI3B_HUMAN	BRI3 binding protein	108						integral to membrane|mitochondrial outer membrane				large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		CGCAGTCTCCAACCTGTCCCA	0.607000													6	22					0	0	0.00198382	0	0
OTOF	9381	broad.mit.edu	37	2	26703111	26703111	+	Silent	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:26703111C>T	ENST00000272371.2	-	16	1998	c.1872G>A	c.(1870-1872)cgG>cgA	p.R624R	OTOF_ENST00000403946.3_Silent_p.R624R	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	624					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCGTTTCTCCGGTCGATCA	0.582000													31	32					0	0	0.00375469	0	0
SCN11A	11280	broad.mit.edu	37	3	38962733	38962733	+	Silent	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:38962733G>A	ENST00000450244.1	-	6	924	c.726C>T	c.(724-726)atC>atT	p.I242I	SCN11A_ENST00000444237.2_Silent_p.I242I|SCN11A_ENST00000302328.3_Silent_p.I242I|SCN11A_ENST00000456224.3_Silent_p.I242I			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	242					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AGGCCCCCACGATGACCTTCA	0.542000													29	18					0	0	0.00127121	0	0
CHSY1	22856	broad.mit.edu	37	15	101717867	101717867	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:101717867G>A	ENST00000254190.3	-	3	2610	c.2135C>T	c.(2134-2136)tCc>tTc	p.S712F	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	712					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCTTGGATGGAAACATCAAA	0.488000													49	84					0	0	0.00361006	0	0
DCC	1630	broad.mit.edu	37	18	50936947	50936947	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr18:50936947C>T	ENST00000442544.2	+	20	3677	c.3061C>T	c.(3061-3063)Cga>Tga	p.R1021*	DCC_ENST00000581580.1_Nonsense_Mutation_p.R656*|DCC_ENST00000412726.1_Nonsense_Mutation_p.R849*	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1021	Fibronectin type-III 6.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GTATTACTTTCGAATTCAAGC	0.378000													11	48					0	0	0.000978159	0	0
HIP1	3092	broad.mit.edu	37	7	75191420	75191420	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:75191420G>A	ENST00000336926.6	-	12	1101	c.1075C>T	c.(1075-1077)Ccc>Tcc	p.P359S	HIP1_ENST00000434438.2_Missense_Mutation_p.P359S	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	359					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AAATTGAAGGGATCACTGCTG	0.423000			T	PDGFRB	CMML								30	86					0	0	0.0024448	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169721405	169721406	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:169721405_169721406insA	ENST00000444448.2	+	19	2093_2094	c.1617_1618insA	c.(1615-1620)ggaaaafs	p.GK539fs	NOSTRIN_ENST00000458381.2_Frame_Shift_Ins_p.GK539fs|NOSTRIN_ENST00000317647.7_Frame_Shift_Ins_p.GK482fs|NOSTRIN_ENST00000421711.2_Frame_Shift_Ins_p.GK454fs|NOSTRIN_ENST00000445023.2_Frame_Shift_Ins_p.GK404fs|NOSTRIN_ENST00000397206.2_Frame_Shift_Ins_p.GK404fs|NOSTRIN_ENST00000397209.2_Frame_Shift_Ins_p.GK454fs			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	482					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CTTTGAATGGGAAAAAAGGCCA	0.411													28	37	---	---	---	---					
EXOC2	55770	broad.mit.edu	37	6	549183	549183	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:549183delT	ENST00000230449.4	-	22	2365	c.2230delA	c.(2230-2232)tcfs	p.I744fs	EXOC2_ENST00000448181.3_Frame_Shift_Del_p.I339fs	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	744					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		ACCTGTGTGATTTTTTCTATT	0.423													9	221	---	---	---	---					
TAS2R4	50832	broad.mit.edu	37	7	141478512	141478512	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:141478512delA	ENST00000247881.2	+	1	271	c.224delA	c.(223-225)gafs	p.E75fs	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	75					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TCAAATACGGAAAGGTCAGTC	0.438													57	249	---	---	---	---					
JAK2	3717	broad.mit.edu	37	9	5072578	5072579	+	Frame_Shift_Del	DEL	AG	AG	-	rs10974946		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:5072578_5072579delAG	ENST00000381652.3	+	13	2222_2223	c.1728_1729delAG	c.(1726-1731)acaafs	p.TE576fs	JAK2_ENST00000539801.1_Frame_Shift_Del_p.TE576fs|JAK2_ENST00000544510.1_Frame_Shift_Del_p.TE427fs	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	576	Protein kinase 1.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TGCATGAAACAGAAGTTCTTTT	0.356		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				12	6	---	---	---	---					
SNORA11	677799	broad.mit.edu	37	14	70270922	70270922	+	RNA	DEL	T	T	-	rs11429169		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr14:70270922delT	ENST00000408133.1	-	0	126																											ATGGATTCTCTTTTTTTTTTT	0.353													5	2	---	---	---	---					
RRN3P2	653390	broad.mit.edu	37	16	29113498	29113498	+	RNA	DEL	T	T	-	rs11366120		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr16:29113498delT	ENST00000564580.1	+	0	1360																											AGGAGGTGGAttttttttttc	0.542													3	6	---	---	---	---					
NEK8	284086	broad.mit.edu	37	17	27067605	27067605	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:27067605delC	ENST00000268766.6	+	11	1576	c.1542delC	c.(1540-1542)ggfs	p.G514fs	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	514						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CTGTGCCTGGCCAAGCCCTAG	0.577													8	50	---	---	---	---					
ZNF490	57474	broad.mit.edu	37	19	12692038	12692038	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:12692038delC	ENST00000311437.6	-	5	973	c.851delG	c.(850-852)gafs	p.G284fs		NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						AAAGGCTTTTCCACACTGTTT	0.418													20	41	---	---	---	---					
ATP2B3	492	broad.mit.edu	37	X	152830534	152830534	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chrX:152830534delC	ENST00000370186.1	+	19	3599	c.3273delC	c.(3271-3273)ttfs	p.F1091fs	ATP2B3_ENST00000359149.3_Frame_Shift_Del_p.F1105fs|ATP2B3_ENST00000263519.4_Frame_Shift_Del_p.F1105fs|ATP2B3_ENST00000393842.1_Frame_Shift_Del_p.F1091fs|ATP2B3_ENST00000370181.2_Frame_Shift_Del_p.F1091fs|ATP2B3_ENST00000349466.2_Frame_Shift_Del_p.F1105fs			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1105					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTGGTTCCGGGGCCTGA	0.672													2	4	---	---	---	---