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
LRRC8D	55144	broad.mit.edu	37	1	90399791	90399791	+	Silent	SNP	C	C	T			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr1:90399791C>T	ENST00000337338.5	+	3	1571	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F	LRRC8D_ENST00000394593.3_Silent_p.F388F	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	388						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		TCTGGTTATTCAGGATACCTT	0.368000													22	99					0	0	0.00188189	0	0
GNAS	2778	broad.mit.edu	37	20	57484421	57484421	+	Missense_Mutation	SNP	G	G	A	rs121913495		TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr20:57484421G>A	ENST00000371100.4	+	8	3083	c.2531G>A	c.(2530-2532)cGt>cAt	p.R844H	GNAS_ENST00000371095.3_Missense_Mutation_p.R187H|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000371085.3_Missense_Mutation_p.R201H	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	201					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	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)		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)			CTTCGCTGCCGTGTCCTGACT	0.423000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			8	37					0	0	0.000274275	0	0
SYT3	84258	broad.mit.edu	37	19	51133107	51133107	+	Silent	SNP	G	G	A			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr19:51133107G>A	ENST00000338916.4	-	3	1629	c.996C>T	c.(994-996)aaC>aaT	p.N332N	SYT3_ENST00000593901.1_Silent_p.N332N|SYT3_ENST00000544769.1_Silent_p.N332N|SYT3_ENST00000600079.1_Silent_p.N332N	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	332	C2 1.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CTGAGAAGCCGTTGGAGTCCT	0.617000													18	60					0	0	0.000375601	0	0
PTPRN2	5799	broad.mit.edu	37	7	157387931	157387931	+	Splice_Site	SNP	T	T	A			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr7:157387931T>A	ENST00000389413.3	-	16	2511	c.2409_splice	c.e16+1	p.Q803_splice	PTPRN2_ENST00000389416.4_Splice_Site_p.Q815_splice|PTPRN2_ENST00000389418.4_Splice_Site_p.Q832_splice|PTPRN2_ENST00000404321.2_Splice_Site_p.Q855_splice|PTPRN2_ENST00000409483.1_Splice_Site_p.Q794_splice	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	832	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AATGTTCACCTGCCAAAAGTC	0.483000													27	33					0	0	0.00178596	0	0
MAGED2	10916	broad.mit.edu	37	X	54837297	54837297	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chrX:54837297G>A	ENST00000375068.1	+	4	814	c.581G>A	c.(580-582)aGt>aAt	p.S194N	MAGED2_ENST00000375053.2_Missense_Mutation_p.S194N|MAGED2_ENST00000396224.1_Missense_Mutation_p.S194N|MAGED2_ENST00000343474.6_Missense_Mutation_p.S176N|MAGED2_ENST00000375062.4_Missense_Mutation_p.S156N|MAGED2_ENST00000497484.1_3'UTR|MAGED2_ENST00000218439.4_Missense_Mutation_p.S194N|MAGED2_ENST00000375060.1_Missense_Mutation_p.S156N|MAGED2_ENST00000347546.3_Missense_Mutation_p.S138N|MAGED2_ENST00000375058.1_Missense_Mutation_p.S194N			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	194										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						AGTGATCAGAGTCAGGCTTCT	0.567000													6	26					0	0	8.12818e-05	0	0
KCNU1	157855	broad.mit.edu	37	8	36780101	36780101	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr8:36780101C>T	ENST00000399881.3	+	24	2727	c.2690C>T	c.(2689-2691)aCg>aTg	p.T897M		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	897	Segment S10.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GCCTTTTCTACGGGCACTGTT	0.493000													15	35					0	0	0.000308642	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23352016	23352016	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr7:23352016G>T	ENST00000258729.3	-	15	2061	c.1705C>A	c.(1705-1707)Ctg>Atg	p.L569M		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	569					anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						CCACTTTGCAGAGCCTTCTGT	0.463000													37	123					4.16155e-14	4.1503e-13	0.00195071	1	0
GALNT15	117248	broad.mit.edu	37	3	16237394	16237394	+	Silent	SNP	C	C	T			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr3:16237394C>T	ENST00000339732.5	+	2	1170	c.667C>T	c.(667-669)Ctg>Ttg	p.L223L	GALNT15_ENST00000437509.1_Silent_p.L223L	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		CAGGGCCTTCCTGAAGGAGAT	0.617000													6	21					0	0	0.000274275	0	0
SLC6A5	9152	broad.mit.edu	37	11	20658729	20658729	+	Silent	SNP	C	C	T			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr11:20658729C>T	ENST00000525748.1	+	12	2022	c.1749C>T	c.(1747-1749)atC>atT	p.I583I	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	583					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TTGCCACCATCGAGACCATAG	0.498000													19	101					0	0	0.000295444	0	0
TBC1D3	729873	broad.mit.edu	37	17	36352489	36352489	+	Translation_Start_Site	SNP	A	A	C	rs4796259	by1000genomes	TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr17:36352489A>C	ENST00000537432.1	-	0	359				RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.F278C|RP11-1407O15.2_ENST00000312412.4_Missense_Mutation_p.F433C			Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3							intracellular	Rab GTPase activator activity			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TATAGCATCAAATATCTCATC	0.388000													4	44					0	0	0.000157383	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6241405	6241405	+	Silent	SNP	G	G	A			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr18:6241405G>A	ENST00000400104.3	-	8	704	c.504C>T	c.(502-504)gcC>gcT	p.A168A	L3MBTL4_ENST00000284898.6_Silent_p.A168A|L3MBTL4_ENST00000400105.2_Silent_p.A168A|L3MBTL4_ENST00000317931.7_Silent_p.A168A			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	168					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GCAATTTGCAGGCCTTCAAGT	0.313000													30	116					0	0	0.001512	0	0
RUSC2	9853	broad.mit.edu	37	9	35561302	35561302	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr9:35561302G>A	ENST00000455600.1	+	12	5043	c.4474G>A	c.(4474-4476)Gac>Aac	p.D1492N		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1492	SH3.					cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CCGTGGCCCCGACTCTGGCCT	0.647000													16	22					0	0	0.000422831	0	0
TSHR	7253	broad.mit.edu	37	14	81609917	81609917	+	Silent	SNP	C	C	T			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr14:81609917C>T	ENST00000541158.2	+	11	1837	c.1515C>T	c.(1513-1515)agC>agT	p.S505S	TSHR_ENST00000298171.2_Silent_p.S505S|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	505			S -> N (in HTNA; found in toxic thyroid nodules).|S -> R (in HTNA; gain of function).		cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TCTTTGCAAGCGAGTTATCGG	0.567000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						11	33					0	0	0.00136819	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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	12					0	0	0.00116845	0	0
AKAP9	10142	broad.mit.edu	37	7	91671477	91671477	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr7:91671477C>T	ENST00000359028.2	+	20	5296	c.5071C>T	c.(5071-5073)Cgc>Tgc	p.R1691C	AKAP9_ENST00000356239.3_Missense_Mutation_p.R1679C|AKAP9_ENST00000358100.2_Missense_Mutation_p.R1691C			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1691					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)			TTGTGAGCTGCGCAACAGCAG	0.468000			T	BRAF	papillary thyroid								23	35					0	0	0.000586117	0	0
IL13RA2	3598	broad.mit.edu	37	X	114249132	114249132	+	Silent	SNP	G	G	A			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chrX:114249132G>A	ENST00000371936.1	-	5	501	c.252C>T	c.(250-252)atC>atT	p.I84I	IL13RA2_ENST00000243213.1_Silent_p.I84I|IL13RA2_ENST00000468224.1_5'UTR			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	84	Fibronectin type-III 1.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						TCTTAGTAATGATGGTCTGTT	0.358000													38	59					0	0	0.000814825	0	0
ASTN2	23245	broad.mit.edu	37	9	119976979	119976979	+	Missense_Mutation	SNP	C	C	T	rs144385545		TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr9:119976979C>T	ENST00000313400.4	-	3	773	c.673G>A	c.(673-675)Gtg>Atg	p.V225M	ASTN2_ENST00000373996.3_Missense_Mutation_p.V225M|ASTN2_ENST00000361477.3_De_novo_Start_InFrame|ASTN2_ENST00000361209.2_Missense_Mutation_p.V225M			O75129	ASTN2_HUMAN	astrotactin 2	225						integral to membrane		p.V225M(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TACAGCGCCACGGTGAACACC	0.602000													13	25					0	0	0.000219431	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79064048	79064048	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr15:79064048C>A	ENST00000388820.4	-	15	2465	c.2255G>T	c.(2254-2256)gGc>gTc	p.G752V	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	752	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GATGGTCCAGCCACCATTGAG	0.647000													29	20					2.61193e-14	2.67723e-13	0.00178596	1	0
STRA6	64220	broad.mit.edu	37	15	74481499	74481499	+	Silent	SNP	C	C	T			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr15:74481499C>T	ENST00000323940.5	-	12	1292	c.1047G>A	c.(1045-1047)caG>caA	p.Q349Q	STRA6_ENST00000449139.2_Silent_p.Q349Q|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000563965.1_Silent_p.Q388Q|STRA6_ENST00000574278.1_Silent_p.Q364Q|STRA6_ENST00000423167.2_Silent_p.Q340Q|STRA6_ENST00000535552.1_Silent_p.Q386Q|STRA6_ENST00000416286.3_Silent_p.Q341Q|STRA6_ENST00000395105.4_Silent_p.Q349Q	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	349					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						CCACCACCTCCTGCTTGTCCT	0.632000													5	22					0	0	0.00116845	0	0
IL13RA2	3598	broad.mit.edu	37	X	114250375	114250375	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chrX:114250375G>A	ENST00000371936.1	-	4	353	c.104C>T	c.(103-105)cCt>cTt	p.P35L	IL13RA2_ENST00000243213.1_Missense_Mutation_p.P35L|IL13RA2_ENST00000468224.1_5'UTR			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	35	Fibronectin type-III 1.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						AAAATCCTGAGGAGGGTTAAC	0.358000													13	29					0	0	0.00136819	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140741350	140741350	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr5:140741350G>A	ENST00000522605.1	+	1	1648	c.1648G>A	c.(1648-1650)Gtg>Atg	p.V550M	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCCTGCGCGTGTTAGTGGG	0.687000													8	34					0	0	0.000274275	0	0
HYAL2	8692	broad.mit.edu	37	3	50357600	50357600	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr3:50357600C>T	ENST00000447092.1	-	1	2613	c.321G>A	c.(319-321)tgG>tgA	p.W107*	HYAL2_ENST00000395139.3_Nonsense_Mutation_p.W107*|HYAL2_ENST00000357750.4_Nonsense_Mutation_p.W107*|HYAL2_ENST00000442581.1_Nonsense_Mutation_p.W107*|TUSC2_ENST00000462137.1_5'UTR			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	107						anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	TCCGGTGTGCCCAAAGGCTGA	0.572000													16	38					0	0	0.000958276	0	0
OTUD6A	139562	broad.mit.edu	37	X	69282643	69282643	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chrX:69282643G>A	ENST00000338352.2	+	1	303	c.269G>A	c.(268-270)cGc>cAc	p.R90H		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	90										autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CGGCCTCCCCGCTCCTCCAAA	0.577000													6	5					0	0	8.12818e-05	0	0
PKDREJ	10343	broad.mit.edu	37	22	46655314	46655314	+	Silent	SNP	G	G	A	rs150338973	byFrequency	TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr22:46655314G>A	ENST00000253255.5	-	1	3905	c.3906C>T	c.(3904-3906)aaC>aaT	p.N1302N		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1302	PLAT.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATCGACCCTCGTTGTTGTGCC	0.453000													23	59					0	0	0.00047179	0	0
MUTYH	4595	broad.mit.edu	37	1	45797139	45797139	+	Missense_Mutation	SNP	G	G	A	rs150792276	byFrequency	TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr1:45797139G>A	ENST00000450313.1	-	13	1491	c.1276C>T	c.(1276-1278)Cgt>Tgt	p.R426C	MUTYH_ENST00000372115.3_Missense_Mutation_p.R412C|MUTYH_ENST00000529984.1_Missense_Mutation_p.R93C|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000355498.2_Missense_Mutation_p.R398C|MUTYH_ENST00000372098.3_Missense_Mutation_p.R423C|MUTYH_ENST00000528332.2_Missense_Mutation_p.R107C|MUTYH_ENST00000488731.2_Missense_Mutation_p.R93C|MUTYH_ENST00000372104.1_Missense_Mutation_p.R398C|MUTYH_ENST00000372110.3_Missense_Mutation_p.R413C|MUTYH_ENST00000448481.1_Missense_Mutation_p.R409C|MUTYH_ENST00000456914.2_Missense_Mutation_p.R398C|MUTYH_ENST00000372100.5_Missense_Mutation_p.R409C|MUTYH_ENST00000354383.6_Missense_Mutation_p.R399C	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN	mutY homolog	423	Nudix hydrolase.				depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CCAGCCCAACGCTGTAGTTCC	0.622000			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				5	20					0	0	0.000602214	0	0
SORCS1	114815	broad.mit.edu	37	10	108412182	108412182	+	Silent	SNP	C	C	T			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr10:108412182C>T	ENST00000263054.6	-	18	2440	c.2433G>A	c.(2431-2433)gcG>gcA	p.A811A	SORCS1_ENST00000369698.1_Silent_p.A346A|SORCS1_ENST00000344440.6_Silent_p.A811A	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	811	PKD.					integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GTCCTTGTTCCGCTGTCAGCT	0.522000													24	26					0	0	0.00106085	0	0
CHIA	27159	broad.mit.edu	37	1	111861206	111861206	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr1:111861206G>A	ENST00000369740.1	+	9	924	c.821G>A	c.(820-822)aGc>aAc	p.S274N	CHIA_ENST00000483391.1_Missense_Mutation_p.S113N|CHIA_ENST00000353665.6_Missense_Mutation_p.S113N|CHIA_ENST00000451398.2_Missense_Mutation_p.S113N|CHIA_ENST00000430615.1_Missense_Mutation_p.S166N|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000343320.6_Missense_Mutation_p.S274N	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	274					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)		TTCATCCTGAGCAACCCCTCC	0.527000													29	74					0	0	0.00178596	0	0
IL13RA2	3598	broad.mit.edu	37	X	114249119	114249119	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chrX:114249119G>C	ENST00000371936.1	-	5	514	c.265C>G	c.(265-267)Cta>Gta	p.L89V	IL13RA2_ENST00000243213.1_Missense_Mutation_p.L89V|IL13RA2_ENST00000468224.1_5'UTR			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	89	Fibronectin type-III 1.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						TTGTAATGTAGATTCTTAGTA	0.353000													36	73					0	0	0.000692331	0	0
GPR19	2842	broad.mit.edu	37	12	12814367	12814367	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr12:12814367C>A	ENST00000540510.1	-	2	1208	c.1016G>T	c.(1015-1017)aGa>aTa	p.R339I	GPR19_ENST00000332427.2_Missense_Mutation_p.R339I			Q15760	GPR19_HUMAN	G protein-coupled receptor 19	339						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		TTTCATCCCTCTCCGAAAATT	0.368000													52	52					4.0306e-16	4.2494e-15	0.000781405	1	0
OR13C4	138804	broad.mit.edu	37	9	107289445	107289445	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr9:107289445C>G	ENST00000277216.3	-	1	45	c.46G>C	c.(46-48)Gga>Cga	p.G16R		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						CCAGAGAGTCCCAGAAGAATG	0.398000													23	72					0	0	0.000295444	0	0
COL7A1	1294	broad.mit.edu	37	3	48623857	48623857	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr3:48623857C>T	ENST00000328333.8	-	26	3565	c.3458G>A	c.(3457-3459)cGc>cAc	p.R1153H	COL7A1_ENST00000454817.1_Missense_Mutation_p.R1153H	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1153	Nonhelical region (NC1).|VWFA 2.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTGCTGGCGGCGCCCAGGAGC	0.587000													26	83					0	0	0.00106085	0	0
ASB2	51676	broad.mit.edu	37	14	94405662	94405662	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr14:94405662T>C	ENST00000555019.1	-	8	1839	c.1409A>G	c.(1408-1410)tAt>tGt	p.Y470C	ASB2_ENST00000315988.4_Missense_Mutation_p.Y422C	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	422					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CGTGGCGATATAGGCGTCGAT	0.657000													11	31					0	0	0.00185496	0	0
TLR4	7099	broad.mit.edu	37	9	120476644	120476644	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr9:120476644G>T	ENST00000355622.6	+	3	2339	c.2238G>T	c.(2236-2238)tgG>tgT	p.W746C	TLR4_ENST00000394487.4_Missense_Mutation_p.W706C|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	746	TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						AGAGCCGCTGGTGTATCTTTG	0.498000													27	43					4.7796e-09	4.64125e-08	0.000720815	1	0
SHC3	53358	broad.mit.edu	37	9	91680488	91680488	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr9:91680488G>A	ENST00000375835.4	-	6	1097	c.791C>T	c.(790-792)aCt>aTt	p.T264I	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	264	PID.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						AACATAGTCAGTTGTGTCCTG	0.453000													49	135					0	0	0.000781405	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			11	9					1.49906e-05	0.000141834	0.000219431	1	0
MICALL2	79778	broad.mit.edu	37	7	1478552	1478552	+	Silent	SNP	C	C	T			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr7:1478552C>T	ENST00000297508.7	-	10	2221	c.2046G>A	c.(2044-2046)ccG>ccA	p.P682P	MICALL2_ENST00000405088.4_Silent_p.P470P|MICALL2_ENST00000471899.1_5'UTR	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	682						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CAGGGGGCTCCGGCCGAAGCC	0.672000													8	43					0	0	0.000157383	0	0
ZFP36L2	678	broad.mit.edu	37	2	43452831	43452832	+	Frame_Shift_Ins	INS	-	-	C			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr2:43452831_43452832insC	ENST00000282388.3	-	2	404_405	c.111_112insG	c.(109-114)ggcgccfs	p.A38fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	38					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GCCACAGGCGTCCCCACCGCCT	0.663													7	9	---	---	---	---