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
PRAMEF2	65122	broad.mit.edu	37	1	12920037	12920037	+	Silent	SNP	C	C	T			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr1:12920037C>T	ENST00000240189.2	+	3	864	c.777C>T	c.(775-777)ttC>ttT	p.F259F		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	259										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCAGATTCACCTCTGTGT	0.458000													10	125					0	0	0.010729	0	0
GREB1	9687	broad.mit.edu	37	2	11767109	11767109	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr2:11767109C>T	ENST00000381486.2	+	25	4628	c.4328C>T	c.(4327-4329)cCg>cTg	p.P1443L	GREB1_ENST00000396123.1_Missense_Mutation_p.P441L|GREB1_ENST00000234142.5_Missense_Mutation_p.P1443L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1443						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCCCGGAAGCCGGAGGACCTT	0.532000													4	65					0	0	0.001984	0	0
RBBP7	5931	broad.mit.edu	37	X	16870184	16870184	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chrX:16870184T>G	ENST00000380087.2	-	9	1385	c.1025A>C	c.(1024-1026)aAt>aCt	p.N342T	RBBP7_ENST00000404022.1_Missense_Mutation_p.N333T|RBBP7_ENST00000380084.4_Missense_Mutation_p.N386T			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	342					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					ATCCCACACATTCAGGCGGCG	0.368000													17	111					0	0	0.007413	0	0
MUC17	140453	broad.mit.edu	37	7	100685103	100685103	+	Missense_Mutation	SNP	C	C	T	rs146748610	byFrequency	TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr7:100685103C>T	ENST00000306151.4	+	3	10470	c.10406C>T	c.(10405-10407)cCg>cTg	p.P3469L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3469	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTACCACGCCGGTGGCCAGT	0.498000													33	350					0	0	0.010818	0	0
DCP1B	196513	broad.mit.edu	37	12	2107117	2107117	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr12:2107117A>T	ENST00000280665.6	-	2	254	c.175T>A	c.(175-177)Tta>Ata	p.L59I	DCP1B_ENST00000397173.4_5'UTR|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	59					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			TAAACAAATAAGGTTCCTTCC	0.308000													7	81					0	0	0.003080	0	0
ELF4	2000	broad.mit.edu	37	X	129201444	129201444	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chrX:129201444G>A	ENST00000308167.5	-	9	1623	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L	ELF4_ENST00000335997.7_Missense_Mutation_p.S415L	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	415					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GGTCAGGGCCGAGCCCGACCC	0.587000			T	ERG	AML								12	46					0	0	0.013537	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30869532	30869532	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr12:30869532G>C	ENST00000251071.5	-	14	3124	c.2374C>G	c.(2374-2376)Caa>Gaa	p.Q792E	CAPRIN2_ENST00000417045.1_Missense_Mutation_p.Q792E|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.Q743E|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.Q757E|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.Q459E	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	792					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GTAAAACTTTGATTGTAGCCA	0.408000													14	190					0	0	0.006122	0	0
RNF40	9810	broad.mit.edu	37	16	30777510	30777510	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr16:30777510G>C	ENST00000324685.6	+	9	1455	c.1020G>C	c.(1018-1020)gaG>gaC	p.E340D	RNF40_ENST00000563683.1_Intron|RNF40_ENST00000402121.3_Intron|RNF40_ENST00000357890.5_Intron	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	340					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CAGAGTTAGAGGAAAACCAGG	0.592000													5	92					0	0	0.001168	0	0
ZNF486	90649	broad.mit.edu	37	19	20295277	20295277	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr19:20295277A>C	ENST00000335117.8	+	2	200	c.143A>C	c.(142-144)cAc>cCc	p.H48P	CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA|ZNF486_ENST00000597083.1_Missense_Mutation_p.H48P	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	48	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						AACTACAGACACCTGGTCTTC	0.363000													11	161					0	0	0.013537	0	0
HPR	3250	broad.mit.edu	37	16	72108189	72108189	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr16:72108189G>A	ENST00000540303.2	+	3	130	c.98G>A	c.(97-99)cGc>cAc	p.R33H	HPR_ENST00000561690.1_Missense_Mutation_p.R33H|HPR_ENST00000356967.5_Missense_Mutation_p.R33H|HPR_ENST00000228226.8_Missense_Mutation_p.R70H	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	33					proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				GCAGATGACCGCTTCCCGAAG	0.483000													12	75					0	0	0.010729	0	0
PIK3CG	5294	broad.mit.edu	37	7	106520087	106520087	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr7:106520087C>T	ENST00000359195.3	+	6	2825	c.2515C>T	c.(2515-2517)Cgc>Tgc	p.R839C	PIK3CG_ENST00000440650.2_Missense_Mutation_p.R839C|PIK3CG_ENST00000496166.1_Missense_Mutation_p.R839C	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	839	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.R839C(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGATGATCTGCGCCAAGACAT	0.333000													6	67					0	0	0.001168	0	0
SLC4A9	83697	broad.mit.edu	37	5	139747331	139747331	+	Silent	SNP	C	C	G			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr5:139747331C>G	ENST00000230993.6	+	16	2309	c.2274C>G	c.(2272-2274)ctC>ctG	p.L758L	SLC4A9_ENST00000507527.1_Silent_p.L758L|SLC4A9_ENST00000432095.2_Silent_p.L720L|SLC4A9_ENST00000506757.2_Silent_p.L734L|SLC4A9_ENST00000506545.1_Silent_p.L671L	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	758	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGGACCTCTTCTGTGTGG	0.582000													4	38					0	0	0.000602	0	0
AIM1	202	broad.mit.edu	37	6	106967352	106967352	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr6:106967352G>A	ENST00000369066.3	+	2	1532	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	349							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TACCGTCTCGGAAGAAGAGAT	0.438000													8	67					0	0	0.003080	0	0
KCTD7	154881	broad.mit.edu	37	7	66262383	66262383	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr7:66262383G>C	ENST00000380828.2	+	8	892	c.738G>C	c.(736-738)aaG>aaC	p.K246N	RABGEF1_ENST00000450873.2_Missense_Mutation_p.K206N|KCTD7_ENST00000451741.2_Missense_Mutation_p.K206N|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000437078.2_Missense_Mutation_p.K220N|KCTD7_ENST00000510829.2_Missense_Mutation_p.K206N|RABGEF1_ENST00000439720.2_Missense_Mutation_p.K219N|RABGEF1_ENST00000284957.5_Missense_Mutation_p.K206N			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GAGTCGAGAAGATAATGGATC	0.318000													4	46					0	0	0.009096	0	0
C8orf34	116328	broad.mit.edu	37	8	69358591	69358591	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr8:69358591G>A	ENST00000337103.4	+	2	1762	c.170G>A	c.(169-171)aGa>aAa	p.R57K	C8orf34_ENST00000348340.2_Missense_Mutation_p.R82K|C8orf34_ENST00000523686.1_Missense_Mutation_p.R82K|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000539993.1_Missense_Mutation_p.R82K|C8orf34_ENST00000518698.1_Missense_Mutation_p.R168K			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	82					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AGGGATTTCAGAAGCTATGAT	0.348000													4	58					0	0	0.009096	0	0
OR6B1	135946	broad.mit.edu	37	7	143701885	143701885	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr7:143701885T>G	ENST00000408922.2	+	1	864	c.796T>G	c.(796-798)Ttc>Gtc	p.F266V		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TATCCATGCCTTCAACATGAA	0.428000													8	90					0	0	0.003080	0	0
MYO1G	64005	broad.mit.edu	37	7	45010270	45010270	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr7:45010270G>A	ENST00000258787.7	-	9	1274	c.1138C>T	c.(1138-1140)Cgg>Tgg	p.R380W		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	380	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CGAGGATCCCGGCCCCGGGGT	0.602000													12	118					0	0	0.001855	0	0
TGFBR2	7048	broad.mit.edu	37	3	30713559	30713559	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr3:30713559C>G	ENST00000295754.5	+	4	1266	c.884C>G	c.(883-885)tCa>tGa	p.S295*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.S320*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	295	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.S295*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GACATCTTCTCAGACATCAAT	0.493000													9	77					0	0	0.006214	0	0
ANO6	196527	broad.mit.edu	37	12	45782051	45782051	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr12:45782051C>G	ENST00000320560.8	+	11	1475	c.1273C>G	c.(1273-1275)Cga>Gga	p.R425G	ANO6_ENST00000435642.1_Missense_Mutation_p.R425G|ANO6_ENST00000425752.2_Missense_Mutation_p.R425G|ANO6_ENST00000441606.2_Missense_Mutation_p.R407G|ANO6_ENST00000423947.3_Missense_Mutation_p.R446G|ANO6_ENST00000426898.2_3'UTR	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	425					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ATACGAAGCACGATGTACTCA	0.463000													10	120					0	0	0.008291	0	0
TP53	7157	broad.mit.edu	37	17	7577098	7577098	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr17:7577098T>G	ENST00000420246.2	-	8	972	c.840A>C	c.(838-840)agA>agC	p.R280S	TP53_ENST00000269305.4_Missense_Mutation_p.R280S|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R280S|TP53_ENST00000359597.4_Missense_Mutation_p.R280S|TP53_ENST00000455263.2_Missense_Mutation_p.R280S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R280S(15)|p.0?(8)|p.R280R(3)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		TGCGCCGGTCTCTCCCAGGAC	0.542000		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)			5	36					0	0	0.000602	0	0
C10orf11	83938	broad.mit.edu	37	10	77818491	77818491	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr10:77818491C>T	ENST00000372499.1	+	4	597	c.382C>T	c.(382-384)Cga>Tga	p.R128*	C10orf11_ENST00000593699.1_3'UTR	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	128	LRRCT.									endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					CAGACAAGAACGAGAGGAGGC	0.478000													13	106					0	0	0.013537	0	0
SLC22A14	9389	broad.mit.edu	37	3	38347718	38347718	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr3:38347718G>C	ENST00000273173.4	+	1	292	c.201G>C	c.(199-201)caG>caC	p.Q67H	SLC22A14_ENST00000448498.1_Missense_Mutation_p.Q67H	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	67						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)		CATTCCAGCAGAGGCTAGTAG	0.532000													10	85					0	0	0.010729	0	0
DPEP1	1800	broad.mit.edu	37	16	89696859	89696859	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr16:89696859G>A	ENST00000393092.3	+	2	332	c.41G>A	c.(40-42)tGc>tAc	p.C14Y	DPEP1_ENST00000421184.1_Missense_Mutation_p.C14Y|DPEP1_ENST00000261615.4_Missense_Mutation_p.C14Y	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	14					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GTGGCCGTCTGCACTGCAGAC	0.632000													10	72					0	0	0.010729	0	0
CSMD3	114788	broad.mit.edu	37	8	113308235	113308235	+	Splice_Site	SNP	G	G	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr8:113308235G>A	ENST00000297405.5	-	54	8685	c.8440_splice	c.e54-1	p.A2814_splice	CSMD3_ENST00000343508.3_Splice_Site_p.A2774_splice|CSMD3_ENST00000455883.2_Splice_Site_p.A2645_splice|CSMD3_ENST00000352409.3_Splice_Site_p.A2744_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2814	Sushi 17.					integral to membrane|plasma membrane		p.A2814V(1)|p.A2814E(1)		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						ACAATGACCCGCTGAAATACG	0.299000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	35					0	0	0.000602	0	0
ACOX2	8309	broad.mit.edu	37	3	58514635	58514635	+	Silent	SNP	G	G	C			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr3:58514635G>C	ENST00000302819.5	-	9	1332	c.1041C>G	c.(1039-1041)ctC>ctG	p.L347L	ACOX2_ENST00000459701.2_Silent_p.L333L	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	347					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		GCTGAGGAAAGAGTTTCTGCT	0.488000													8	77					0	0	0.006214	0	0
SDHAP1	255812	broad.mit.edu	37	3	195711497	195711497	+	RNA	SNP	C	C	G			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr3:195711497C>G	ENST00000427841.1	-	0	450					NR_003264.2																						TGCTCCGTCACGTAGTGGATG	0.587000													4	60					0	0	0.001168	0	0
TMEM25	84866	broad.mit.edu	37	11	118404820	118404820	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr11:118404820A>T	ENST00000524725.1	+	5	1193	c.781A>T	c.(781-783)Aat>Tat	p.N261Y	TMEM25_ENST00000313236.5_Missense_Mutation_p.N305Y|TMEM25_ENST00000544878.1_Missense_Mutation_p.N208Y|TMEM25_ENST00000442938.2_Missense_Mutation_p.N261Y|TMEM25_ENST00000533102.1_Missense_Mutation_p.N305Y|TMEM25_ENST00000411589.2_Missense_Mutation_p.N261Y|TMEM25_ENST00000354284.4_Missense_Mutation_p.N305Y|TMEM25_ENST00000354064.7_Missense_Mutation_p.N157Y|TMEM25_ENST00000359862.4_Missense_Mutation_p.N261Y			Q86YD3	TMM25_HUMAN	transmembrane protein 25	305						extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CCTTCAGCTCAATGACCTCAC	0.517000													7	46					0	0	0.004482	0	0
SSX6	280657	broad.mit.edu	37	X	47970673	47970673	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chrX:47970673C>A	ENST00000376932.2	+	4	288	c.214C>A	c.(214-216)Cgt>Agt	p.R72S	SSX6_ENST00000319275.3_5'UTR														p.R72C(1)		large_intestine(6)|lung(4)|skin(2)|stomach(1)	13						ACTTTTCATGCGTAATAAACG	0.478000													4	15					0.00909568	0.00973026	0.009096	1	0
SLC34A2	10568	broad.mit.edu	37	4	25667818	25667818	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr4:25667818G>A	ENST00000382051.3	+	5	498	c.448G>A	c.(448-450)Ggg>Agg	p.G150R	SLC34A2_ENST00000504570.1_Missense_Mutation_p.G149R|SLC34A2_ENST00000503434.1_Missense_Mutation_p.G149R|SLC34A2_ENST00000510033.2_3'UTR	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	150					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GCTGGTGATCGGGGTGCTGGT	0.507000			T	ROS1	NSCLC								6	100					0	0	0.001984	0	0
HCN2	610	broad.mit.edu	37	19	613894	613894	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr19:613894G>A	ENST00000251287.2	+	7	1921	c.1868G>A	c.(1867-1869)cGg>cAg	p.R623Q		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	623					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGAGCGTGCGGGCTGACACC	0.716000													4	34					0	0	0.009096	0	0
MPL	4352	broad.mit.edu	37	1	43812539	43812539	+	Silent	SNP	G	G	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr1:43812539G>A	ENST00000372470.3	+	8	1284	c.1242G>A	c.(1240-1242)tcG>tcA	p.S414S	MPL_ENST00000413998.2_Silent_p.S414S	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	414	Fibronectin type-III 2.				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGCACCCATCGTCCTGGGCAG	0.567000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						10	69					0	0	0.006214	0	0
GLRA2	2742	broad.mit.edu	37	X	14550468	14550468	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chrX:14550468A>G	ENST00000218075.4	+	2	706	c.176A>G	c.(175-177)gAt>gGt	p.D59G	GLRA2_ENST00000443437.2_5'UTR|GLRA2_ENST00000355020.4_Missense_Mutation_p.D59G	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	59					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.D59V(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	TCAGGATATGATGCAAGAATC	0.378000													10	43					0	0	0.010729	0	0
COL1A1	1277	broad.mit.edu	37	17	48273002	48273002	+	Nonsense_Mutation	SNP	G	G	A	rs72645366		TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr17:48273002G>A	ENST00000225964.5	-	17	1199	c.1081C>T	c.(1081-1083)Cga>Tga	p.R361*		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	361	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TCAGAGCCTCGGGGCCCTTGG	0.637000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta				OREG0024559	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	39					0	0	0.004672	0	0
MUC6	4588	broad.mit.edu	37	11	1018367	1018367	+	Silent	SNP	T	T	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr11:1018367T>A	ENST00000421673.2	-	31	4484	c.4434A>T	c.(4432-4434)tcA>tcT	p.S1478S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1478	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGTTGGCGCTGAGTGGTTGG	0.587000													20	206					0	0	0.012319	0	0
KLK12	43849	broad.mit.edu	37	19	51532606	51532606	+	Silent	SNP	A	A	G			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr19:51532606A>G	ENST00000250352.11	-	5	1042	c.369T>C	c.(367-369)taT>taC	p.Y123Y	KLK12_ENST00000319590.4_Silent_p.Y233Y|KLK12_ENST00000529888.1_3'UTR|KLK12_ENST00000250351.4_Silent_p.Y233Y|KLK12_ENST00000525263.1_Silent_p.Y233Y			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	233	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		ACTTGCAAATATAGGTGTAGA	0.587000													13	113					0	0	0.013537	0	0
LAMTOR1	55004	broad.mit.edu	37	11	71808908	71808908	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr11:71808908T>A	ENST00000278671.5	-	5	608	c.446A>T	c.(445-447)gAc>gTc	p.D149V	LRTOMT_ENST00000419228.1_Intron|LAMTOR1_ENST00000538404.1_3'UTR|LRTOMT_ENST00000435085.1_Intron|LRTOMT_ENST00000307198.7_Intron|LAMTOR1_ENST00000545249.1_Intron|LAMTOR1_ENST00000539797.1_5'UTR|LAMTOR1_ENST00000535107.1_Intron|LRTOMT_ENST00000439209.1_Intron	NM_017907.2	NP_060377.1	Q6IAA8	LTOR1_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 1	149	Interaction with LAMTOR2 and LAMTOR3 (By similarity).				cell growth|cellular protein localization|cellular response to amino acid stimulus|cholesterol homeostasis|endosome localization|endosome organization|lysosome localization|lysosome organization|positive regulation of MAPKKK cascade|positive regulation of TOR signaling cascade|regulation of cholesterol efflux|regulation of cholesterol esterification|regulation of cholesterol import|regulation of receptor recycling	Golgi apparatus|lysosomal membrane|plasma membrane|Ragulator complex	protein binding			cervix(1)	1						CTCTTTTGCGTCCACACGGAT	0.552000													18	238					0	0	0.014323	0	0
LAMB1	3912	broad.mit.edu	37	7	107572693	107572693	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr7:107572693C>T	ENST00000393561.1	-	26	4574	c.4390G>A	c.(4390-4392)Gcc>Acc	p.A1464T	LAMB1_ENST00000222399.6_Missense_Mutation_p.A1440T|LAMB1_ENST00000474380.1_5'UTR			P07942	LAMB1_HUMAN	laminin, beta 1	1440	Domain I.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.A1440T(2)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCTGCCAGGCGTTGTGTGCA	0.552000													19	179					0	0	0.010504	0	0
EFCAB14	9813	broad.mit.edu	37	1	47148983	47148983	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr1:47148983G>C	ENST00000371933.3	-	10	2277	c.1301C>G	c.(1300-1302)tCt>tGt	p.S434C	EFCAB14_ENST00000544071.1_Missense_Mutation_p.S370C|EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14-AS1_ENST00000418985.1_RNA	NM_014774.2	NP_055589.1			EF-hand calcium binding domain 14																		TTCAGTGCTAGAAACTCCTGG	0.358000													9	126					0	0	0.008291	0	0
IGKV2-30	28919	broad.mit.edu	37	2	89544371	89544371	+	RNA	SNP	C	C	G			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr2:89544371C>G	ENST00000468494.1	-	0	282																											CTGAATCTGTCTGGGACCCCA	0.502000													20	171					0	0	0.002780	0	0
IGHV3-7	28452	broad.mit.edu	37	14	106518702	106518702	+	RNA	SNP	C	C	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr14:106518702C>A	ENST00000390598.2	-	0	127																											TCACACTGGACACCTGCAAAC	0.522000													12	152					9.31168e-06	1.07084e-05	0.001855	1	0
A2M	2	broad.mit.edu	37	12	9251236	9251236	+	Silent	SNP	G	G	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr12:9251236G>A	ENST00000318602.7	-	15	2125	c.1818C>T	c.(1816-1818)ctC>ctT	p.L606L		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	606					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CAGGCTTCATGAGCAGCACGC	0.617000													3	17					0	0	0.009096	0	0
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141																											TGAGGCTGCCGTTGTAGAAGG	0.612000													5	7					0	0	0.000602	0	0
MYH2	4620	broad.mit.edu	37	17	10427914	10427914	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr17:10427914G>A	ENST00000245503.5	-	35	5428	c.5044C>T	c.(5044-5046)Cgc>Tgc	p.R1682C	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1682C|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1682					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTGGCTCTGCGCTCCACCATG	0.567000													6	58					0	0	0.001168	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140812277	140812277	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr5:140812277C>A	ENST00000252085.3	+	1	2093	c.1951C>A	c.(1951-1953)Cag>Aag	p.Q651K	PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCACGGCCAGCCCCCTCT	0.697000													10	121					6.40141e-05	7.18207e-05	0.010729	1	0
PCOLCE	5118	broad.mit.edu	37	7	100205594	100205594	+	Silent	SNP	G	G	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr7:100205594G>A	ENST00000223061.5	+	9	1498	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	406	NTR.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AGGTAGAAGAGAACAGAGGCC	0.547000													12	105					0	0	0.002450	0	0
OR2J2	26707	broad.mit.edu	37	6	29141890	29141890	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr6:29141890C>T	ENST00000377167.2	+	1	580	c.478C>T	c.(478-480)Cat>Tat	p.H160Y		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H160D(1)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CTCAGCACTTCATTCCTCCTT	0.463000													19	250					0	0	0.010504	0	0
ARMC4	55130	broad.mit.edu	37	10	28228887	28228887	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr10:28228887A>G	ENST00000305242.5	-	14	2128	c.2036T>C	c.(2035-2037)gTc>gCc	p.V679A	ARMC4_ENST00000537576.1_Missense_Mutation_p.V371A|ARMC4_ENST00000545014.1_Missense_Mutation_p.V204A	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	679							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TAGGTTCTTGACAAGGTTTTC	0.433000													5	58					0	0	0.001168	0	0
TDRD6	221400	broad.mit.edu	37	6	46658969	46658969	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr6:46658969A>G	ENST00000544460.1	+	1	3358	c.3104A>G	c.(3103-3105)aAc>aGc	p.N1035S	TDRD6_ENST00000316081.6_Missense_Mutation_p.N1035S	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1035	Tudor 5.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TCTCCCTTGAACCCTGGAACC	0.368000													4	83					0	0	0.000602	0	0
VRK1	7443	broad.mit.edu	37	14	97321591	97321591	+	Missense_Mutation	SNP	C	C	T	rs144600646	by1000genomes	TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr14:97321591C>T	ENST00000216639.3	+	8	756	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	203	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		CCTTGCTTATCGGTACTGCCC	0.408000													7	103					0	0	0.003080	0	0
ATG7	10533	broad.mit.edu	37	3	11389503	11389503	+	Silent	SNP	C	C	T			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr3:11389503C>T	ENST00000354449.3	+	12	1303	c.1278C>T	c.(1276-1278)ccC>ccT	p.P426P	ATG7_ENST00000446450.2_Silent_p.P387P|ATG7_ENST00000354956.5_Silent_p.P426P	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	426					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	p.P426P(1)		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						AAATATTCCCCGGTGTGGTAT	0.478000													8	123					0	0	0.006214	0	0
RSPO2	340419	broad.mit.edu	37	8	109001316	109001316	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr8:109001316C>T	ENST00000276659.5	-	3	871	c.251G>A	c.(250-252)gGa>gAa	p.G84E	RSPO2_ENST00000517939.1_Missense_Mutation_p.G17E|RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000378439.2_Intron	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	84					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			GGCTCGGTGTCCATAGTACCC	0.488000													4	78					0	0	0.000602	0	0
FAT4	79633	broad.mit.edu	37	4	126412367	126412367	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr4:126412367C>A	ENST00000394329.3	+	17	14403	c.14390C>A	c.(14389-14391)aCa>aAa	p.T4797K	FAT4_ENST00000335110.5_Missense_Mutation_p.T3038K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4797					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGGCTCAACACACCTCGCCCT	0.527000													6	71					3.59834e-05	4.087e-05	0.001168	1	0
ZNF236	7776	broad.mit.edu	37	18	74580734	74580734	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr18:74580734C>T	ENST00000253159.8	+	4	649	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	ZNF236_ENST00000583095.1_3'UTR|ZNF236_ENST00000320610.9_Missense_Mutation_p.R153W	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	151					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GGCTGGAACCCGGCAGCATGC	0.522000													7	133					0	0	0.001984	0	0
ZNF334	55713	broad.mit.edu	37	20	45131128	45131128	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr20:45131128G>A	ENST00000457685.2	-	6	2059	c.736C>T	c.(736-738)Cga>Tga	p.R246*	ZNF334_ENST00000347606.4_Nonsense_Mutation_p.R284*|ZNF334_ENST00000593880.1_Nonsense_Mutation_p.R307*			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGAATTCTTCGGTGTCGAGTG	0.418000													5	126					0	0	0.001168	0	0
NOTCH1	4851	broad.mit.edu	37	9	139411828	139411828	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr9:139411828C>A	ENST00000277541.6	-	9	1526	c.1451G>T	c.(1450-1452)gGt>gTt	p.G484V		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	484	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.G484V(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCAGTGCACACCCTCGTAGCC	0.652000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			3	16					0.004672	0.00505675	0.004672	1	0
NBEA	26960	broad.mit.edu	37	13	36229804	36229804	+	Silent	SNP	C	C	T			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr13:36229804C>T	ENST00000540320.1	+	54	8751	c.8217C>T	c.(8215-8217)atC>atT	p.I2739I	NBEA_ENST00000537702.1_Silent_p.I532I|NBEA_ENST00000379939.2_Silent_p.I2736I|NBEA_ENST00000379922.3_Silent_p.I317I|NBEA_ENST00000400445.3_Silent_p.I2739I|NBEA_ENST00000310336.4_Silent_p.I2739I			Q8NFP9	NBEA_HUMAN	neurobeachin	2739						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ACTGCTACATCGTGTCCGGAT	0.512000													5	126					0	0	0.000602	0	0
ZNF335	63925	broad.mit.edu	37	20	44592204	44592204	+	Missense_Mutation	SNP	G	G	A	rs141481390		TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr20:44592204G>A	ENST00000322927.2	-	9	1541	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	ZNF335_ENST00000426788.1_Missense_Mutation_p.R326C	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				ACGTGGAAGCGCAGGTCCTCG	0.587000													8	154					0	0	0.004482	0	0
GPR15	2838	broad.mit.edu	37	3	98251012	98251012	+	Silent	SNP	G	G	T			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr3:98251012G>T	ENST00000284311.3	+	1	270	c.135G>T	c.(133-135)ctG>ctT	p.L45L		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	45						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CTGTGTTCCTGACTGGAGTGC	0.502000													7	68					8.12818e-05	9.00955e-05	0.001984	1	0
ASXL3	80816	broad.mit.edu	37	18	31326305	31326305	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr18:31326305A>C	ENST00000269197.5	+	12	6493	c.6493A>C	c.(6493-6495)Aaa>Caa	p.K2165Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	2165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CACGAGTTTCAAAAGGGCAGC	0.468000													10	140					0	0	0.008291	0	0
CYP2D7	1564	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	by1000genomes	TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr22:42538870A>C	ENST00000424775.1	-	0	440				CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000433992.1_RNA																endometrium(1)	1						CCATAGCGCGACAGGAACACC	0.687000													3	15					0	0	0.001168	0	0
KIAA1328	57536	broad.mit.edu	37	18	34539358	34539358	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr18:34539358C>G	ENST00000591619.1	+	6	1310	c.524C>G	c.(523-525)tCt>tGt	p.S175C	KIAA1328_ENST00000280020.5_Missense_Mutation_p.S179C|KIAA1328_ENST00000543923.1_Missense_Mutation_p.S71C|KIAA1328_ENST00000586135.1_Intron|KIAA1328_ENST00000435985.2_5'UTR			Q86T90	K1328_HUMAN	KIAA1328	179										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		CTCACCATGTCTCTCTCAGAA	0.408000													2	16					0	0	0.004672	0	0
TRIO	7204	broad.mit.edu	37	5	14504668	14504668	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr5:14504668G>C	ENST00000344204.4	+	55	8602	c.8578G>C	c.(8578-8580)Gag>Cag	p.E2860Q	TRIO_ENST00000537187.1_Missense_Mutation_p.E2684Q|TRIO_ENST00000344135.5_Missense_Mutation_p.E359Q	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2860	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CGACACCTTTGAGACCCCCAC	0.582000													8	228					0	0	0.004482	0	0
MOB2	81532	broad.mit.edu	37	11	1501645	1501645	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr11:1501645G>A	ENST00000329957.6	-	3	532	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	84						nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|kidney(2)|lung(1)	4						GCCATCGTCTGACACGTCTCT	0.587000													10	82					0	0	0.013537	0	0
PXDN	7837	broad.mit.edu	37	2	1652027	1652027	+	Silent	SNP	G	G	C			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr2:1652027G>C	ENST00000252804.4	-	17	3575	c.3525C>G	c.(3523-3525)gtC>gtG	p.V1175V		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1175					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GATTGCAGTAGACCCTGTAGT	0.572000													16	166					0	0	0.004007	0	0
MTPAP	55149	broad.mit.edu	37	10	30630542	30630542	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr10:30630542C>G	ENST00000358107.4	-	3	574	c.575G>C	c.(574-576)aGa>aCa	p.R192T	MTPAP_ENST00000263063.3_Missense_Mutation_p.R62T|MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	62					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CTCAGAGAATCTCCTTTTGGG	0.348000													6	82					0	0	0.004482	0	0
AKAP9	10142	broad.mit.edu	37	7	91682106	91682106	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr7:91682106C>G	ENST00000359028.2	+	23	5696	c.5471C>G	c.(5470-5472)tCa>tGa	p.S1824*	AKAP9_ENST00000356239.3_Nonsense_Mutation_p.S1812*|AKAP9_ENST00000358100.2_Nonsense_Mutation_p.S1824*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1824					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AACATGTGGTCAAAAGTAACT	0.373000			T	BRAF	papillary thyroid								9	61					0	0	0.010729	0	0
GNE	10020	broad.mit.edu	37	9	36236908	36236908	+	Silent	SNP	T	T	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr9:36236908T>A	ENST00000396594.3	-	4	894	c.783A>T	c.(781-783)atA>atT	p.I261I	GNE_ENST00000543356.2_Silent_p.I225I|GNE_ENST00000377902.5_Silent_p.I230I|GNE_ENST00000539208.1_Intron|GNE_ENST00000447283.2_Silent_p.I230I|GNE_ENST00000539815.1_Silent_p.I230I	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	230					cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			CAAACATTTTTATGGAATGCT	0.348000													6	70					0	0	0.001168	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	by1000genomes	TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr17:45128742T>G	ENST00000575173.1	-	0	418																											TAATGATTTTTATTATACTTT	0.328000													4	58					0	0	0.009096	0	0
PREX2	80243	broad.mit.edu	37	8	69005941	69005941	+	Silent	SNP	T	T	C			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr8:69005941T>C	ENST00000288368.4	+	21	2629	c.2352T>C	c.(2350-2352)ttT>ttC	p.F784F	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	784					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGGATGCTTTTGACTGTAAAG	0.403000													9	102					0	0	0.004482	0	0
CCDC88C	440193	broad.mit.edu	37	14	91780018	91780018	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr14:91780018C>G	ENST00000389857.6	-	15	2228	c.2142G>C	c.(2140-2142)gaG>gaC	p.E714D		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	714					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	p.E714E(2)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				AGCGCATGGTCTCCACCAGCC	0.602000													6	75					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179439605	179439605	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr2:179439605C>T	ENST00000589042.1	-	326	71478	c.71254G>A	c.(71254-71256)Gag>Aag	p.E23752K	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E22111K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E14812K|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E14879K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E14687K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E21184K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22111	Fibronectin type-III 72.						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)			CCATCGTTCTCAGGTGGGTCC	0.453000													5	21					0	0	0.000602	0	0
RNF34	80196	broad.mit.edu	37	12	121867998	121867998	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr12:121867998G>T	ENST00000392464.2	+	7	1294	c.1225G>T	c.(1225-1227)Gtc>Ttc	p.V409F	KDM2B_ENST00000377069.4_Intron|KDM2B_ENST00000542973.1_Intron|KDM2B_ENST00000377071.4_3'UTR|KDM2B_ENST00000536437.1_3'UTR			Q969K3	RNF34_HUMAN	ring finger protein 34, E3 ubiquitin protein ligase	0					apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding			breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		GTGGTCTGTTGTCCCACGTTC	0.473000													8	79					0.000157383	0.000172372	0.003080	1	0
SUMF2	25870	broad.mit.edu	37	7	56136270	56136270	+	Missense_Mutation	SNP	C	C	T	rs150976522	byFrequency	TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr7:56136270C>T	ENST00000434526.2	+	2	251	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	SUMF2_ENST00000413756.1_Missense_Mutation_p.R55W|SUMF2_ENST00000342190.6_Missense_Mutation_p.R74W|SUMF2_ENST00000395435.2_Missense_Mutation_p.R74W|SUMF2_ENST00000395436.2_Missense_Mutation_p.R74W|SUMF2_ENST00000275607.9_Intron|SUMF2_ENST00000437307.2_Missense_Mutation_p.R55W	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	55						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CGGGCCTGTGCGGGAGGCGAC	0.507000													4	46					0	0	0.009096	0	0
CRY1	1407	broad.mit.edu	37	12	107393445	107393445	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr12:107393445C>G	ENST00000008527.5	-	7	1888	c.1021G>C	c.(1021-1023)Gat>Cat	p.D341H		NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	341	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						ATGATGGCATCAATCCATGGA	0.493000													4	61					0	0	0.009096	0	0
HEATR5A	25938	broad.mit.edu	37	14	31774252	31774252	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr14:31774252G>A	ENST00000543095.2	-	32	5282	c.5098C>T	c.(5098-5100)Ctc>Ttc	p.L1700F	HEATR5A_ENST00000439348.1_Missense_Mutation_p.L1694F|HEATR5A_ENST00000439727.1_Missense_Mutation_p.L1407F|HEATR5A_ENST00000389961.3_Missense_Mutation_p.L1694F	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1694							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		AATTCTGGGAGCTGTCTAACT	0.448000													16	108					0	0	0.004990	0	0
PRKAG2	51422	broad.mit.edu	37	7	151573605	151573605	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr7:151573605C>T	ENST00000287878.4	-	1	605	c.101G>A	c.(100-102)cGc>cAc	p.R34H		NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	34					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		AATGTGCACGCGCAGCGAACG	0.647000													7	68					0	0	0.004482	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89083951	89083951	+	RNA	DEL	A	A	-	rs111608027		TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr2:89083951delA	ENST00000393525.3	+	0	576																											CTTTTTTTTCAGTGTATTTCT	0.348													2	4	---	---	---	---					
H1FX	8971	broad.mit.edu	37	3	129034495	129034495	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr3:129034495delT	ENST00000333762.4	-	1	625	c.251delA	c.(250-252)atfs	p.N84fs	H1FX-AS1_ENST00000511998.1_RNA|H1FX-AS1_ENST00000433902.2_RNA	NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN	H1 histone family, member X	84	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			kidney(1)|ovary(1)|urinary_tract(2)	4						GGTGCGCCCATTCTGCTGGTC	0.612													2	4	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579698	7579699	+	Splice_Site	INS	-	-	CC			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr17:7579698_7579699insCC	ENST00000420246.2	-	3	229		c.e3+1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_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.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(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)		CCTTGTCCTTACCAGAACGTTG	0.594		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)			9	50	---	---	---	---					
POLDIP2	26073	broad.mit.edu	37	17	26684390	26684391	+	Frame_Shift_Ins	INS	-	-	C	rs148075904	by1000genomes	TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr17:26684390_26684391insC	ENST00000540200.1	-	2	80_81	c.81_82insG	c.(79-84)aacgctfs	p.NA27fs	POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2	28						mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GCACAGAGCGGCTTTGCCACCG	0.762													4	9	---	---	---	---					
LOC101927755	101927755	broad.mit.edu	37	17	58050841	58050842	+	RNA	DEL	TT	TT	-	rs74362551		TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr17:58050841_58050842delTT	ENST00000586209.1	+	0	158																											acagggtttcTTTTTTTTTTTT	0.416													5	10	---	---	---	---