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
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													6	118					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													4	218					0	0	1	0	0
LRRC43	254050	broad.mit.edu	37	12	122685179	122685179	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr12:122685179C>T	ENST00000339777.4	+	9	1620	c.1592C>T	c.(1591-1593)aCg>aTg	p.T531M	LRRC43_ENST00000537733.1_3'UTR|LRRC43_ENST00000425921.1_Missense_Mutation_p.T346M	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	531	Lys-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		aaagacaggacggggaaagga	0.582000													11	39					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43042409	43042409	+	Missense_Mutation	SNP	C	C	T	rs147342965	by1000genomes	TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr20:43042409C>T	ENST00000316099.4	+	4	550	c.461C>T	c.(460-462)gCg>gTg	p.A154V	HNF4A_ENST00000443598.2_Missense_Mutation_p.A154V|HNF4A_ENST00000415691.2_Missense_Mutation_p.A154V|HNF4A_ENST00000457232.1_Missense_Mutation_p.A132V|HNF4A_ENST00000316673.4_Missense_Mutation_p.A132V|HNF4A_ENST00000609795.1_Missense_Mutation_p.A132V	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha						blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCCATCAATGCGCTCCTGCAG	0.632000													3	9					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48703526	48703526	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr17:48703526G>A	ENST00000352832.5	+	34	6539	c.6167G>A	c.(6166-6168)aGc>aAc	p.S2056N	CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S2138N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S2127N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S2065N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S2079N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S2038N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S2097N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S2090N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S2083N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S2112N|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S2093N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S2049N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S2149N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S2172N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S2104N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S2183N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S2056N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S2120N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S2033N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S2072N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S2067N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S2045N|CACNA1G_ENST00000507896.1_Intron	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2183					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CACTCCCGCAGCCACAGCAAG	0.657000											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	25					0	0	1	0	0
PDLIM3	27295	broad.mit.edu	37	4	186444599	186444599	+	Splice_Site	SNP	C	C	T			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr4:186444599C>T	ENST00000284767.5	-	3	314	c.247G>A	c.(247-249)Gga>Aga	p.G83R	PDLIM3_ENST00000284770.5_Splice_Site_p.G83R|PDLIM3_ENST00000284771.6_Splice_Site_p.G83R			Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	83	PDZ.					sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		TGAGTTTCTCCCCTGGAAATA	0.343000													6	17					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													5	27					0	0	1	0	0
COA6	388753	broad.mit.edu	37	1	234509498	234509498	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr1:234509498C>T	ENST00000366613.1	+	1	70	c.34C>T	c.(34-36)Cgc>Tgc	p.R12C	COA6_ENST00000366612.1_5'UTR|COA6_ENST00000366615.4_Intron	NM_001012985.2	NP_001013003.1			cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)																		GTCCCCGAGCCGCGGGTTCCT	0.642000													24	35					0	0	1	0	0
TRIM56	81844	broad.mit.edu	37	7	100732118	100732118	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr7:100732118C>T	ENST00000306085.6	+	3	1822	c.1525C>T	c.(1525-1527)Cgg>Tgg	p.R509W		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	509					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GCGGTCCCCCCGGATCACCGG	0.652000													48	95					0	0	1	0	0
GPR61	83873	broad.mit.edu	37	1	110085791	110085791	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr1:110085791G>A	ENST00000527748.1	+	2	830	c.147G>A	c.(145-147)atG>atA	p.M49I	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	49						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TCTTCTTCATGCTCCTGCTGG	0.602000													4	72					0	0	1	0	0
USP48	84196	broad.mit.edu	37	1	22016507	22016507	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr1:22016507C>T	ENST00000308271.9	-	24	3617	c.2969G>A	c.(2968-2970)gGc>gAc	p.G990D	USP48_ENST00000374732.3_Missense_Mutation_p.G476D|USP48_ENST00000529637.1_Missense_Mutation_p.G1002D|USP48_ENST00000400301.1_Missense_Mutation_p.G938D	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	990	Ubiquitin-like.				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GCCAAGGGTGCCTAGGGTGGC	0.383000													36	38					0	0	1	0	0
ZNF720	124411	broad.mit.edu	37	16	31766535	31766535	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr16:31766535A>T	ENST00000399681.3	+	6	1402	c.923A>T	c.(922-924)tAc>tTc	p.Y308F	ZNF720_ENST00000531864.2_Intron|ZNF720_ENST00000539915.1_Intron|ZNF720_ENST00000316491.9_Intron|ZNF720_ENST00000534369.1_Intron			Q7Z2F6	ZN720_HUMAN	zinc finger protein 720	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding			endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						GAAAAACTTTACAAATGTAAA	0.358000													3	6					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866888	131866888	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr7:131866888G>A	ENST00000359827.3	-	17	4182	c.3220C>T	c.(3220-3222)Cgt>Tgt	p.R1074C	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1074C			Q9HCM2	PLXA4_HUMAN	plexin A4	1074	IPT/TIG 3.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGCTTGGCACGGATCTGGGGG	0.542000													6	96					0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47957593	47957593	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr3:47957593T>C	ENST00000426837.2	-	8	1862	c.1775A>G	c.(1774-1776)gAt>gGt	p.D592G	MAP4_ENST00000395734.3_Missense_Mutation_p.D575G|MAP4_ENST00000360240.6_Missense_Mutation_p.D575G|MAP4_ENST00000383737.4_Intron			P27816	MAP4_HUMAN	microtubule-associated protein 4	575					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TGGTGGAACATCTTTGGCTGG	0.483000													72	116					0	0	1	0	0
ST3GAL4	6484	broad.mit.edu	37	11	126283484	126283484	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr11:126283484G>A	ENST00000526727.1	+	9	1230	c.856G>A	c.(856-858)Gcc>Acc	p.A286T	ST3GAL4_ENST00000444328.2_Missense_Mutation_p.A286T|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.A285T|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.A282T|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.A292T|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.A282T|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.A275T|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.A286T|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.A281T|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.A286T			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	286					post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		CTACCCAGACGCCTACAACAA	0.592000													20	23					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41274830	41274830	+	Splice_Site	SNP	A	A	G			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr3:41274830A>G	ENST00000349496.5	+	8	1361		c.e8-1		CTNNB1_ENST00000396183.3_Splice_Site|CTNNB1_ENST00000396185.3_Splice_Site|CTNNB1_ENST00000405570.1_Splice_Site|CTNNB1_ENST00000453024.1_Splice_Site	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa						adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TTAATTTTCTAGGTGGAATGC	0.408000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				8	54					0	0	1	0	0
ACO2	50	broad.mit.edu	37	22	41919937	41919937	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr22:41919937T>C	ENST00000396512.3	+	12	1566	c.1549T>C	c.(1549-1551)Tcc>Ccc	p.S517P	ACO2_ENST00000216254.4_Missense_Mutation_p.S492P			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	492				T -> K (in Ref. 1; AAB38416).	citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CTTTGTCACGTCCCCAGAGGT	0.617000													13	12					0	0	1	0	0
UHRF2	115426	broad.mit.edu	37	9	6499916	6499916	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr9:6499916A>G	ENST00000276893.5	+	13	2158	c.1990A>G	c.(1990-1992)Agg>Ggg	p.R664G	UHRF2_ENST00000485617.2_3'UTR	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	664					cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		AACCACAAAAAGGCCAATTTC	0.433000													7	10					0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35131480	35131480	+	RNA	SNP	A	A	T			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr7:35131480A>T	ENST00000436258.1	-	0	1889																											ATCTTCGTAAAGTGGATGATT	0.423000													4	60					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								27	25					0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71152482	71152482	+	Silent	SNP	A	A	C			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr11:71152482A>C	ENST00000355527.3	-	6	693	c.417T>G	c.(415-417)gtT>gtG	p.V139V	DHCR7_ENST00000407721.2_Silent_p.V139V	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	139					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	ACTTGTTCACAACCCCTGCAG	0.572000									Smith-Lemli-Opitz syndrome				3	7					0	0	1	0	0
NOP58	51602	broad.mit.edu	37	2	203165048	203165048	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr2:203165048A>G	ENST00000264279.5	+	13	1586	c.1360A>G	c.(1360-1362)Att>Gtt	p.I454V		NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	454	Lys-rich.				cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						AGAGGATGAAATTACTGAAAA	0.333000													9	89					0	0	1	0	0
ANKRD46	157567	broad.mit.edu	37	8	101542045	101542045	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr8:101542045A>G	ENST00000520311.1	-	3	820	c.17T>C	c.(16-18)gTa>gCa	p.V6A	ANKRD46_ENST00000519316.1_Missense_Mutation_p.V6A|ANKRD46_ENST00000335659.3_Missense_Mutation_p.V6A|ANKRD46_ENST00000519597.1_Missense_Mutation_p.V6A|ANKRD46_ENST00000520552.1_Missense_Mutation_p.V6A	NM_001270378.1	NP_001257307.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	6						integral to membrane				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			AGAATCATTTACAAAAACATA	0.408000													4	64					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76938029	76938029	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chrX:76938029G>A	ENST00000373344.5	-	9	2933	c.2719C>T	c.(2719-2721)Cga>Tga	p.R907*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.R869*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	907					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)|p.R907*(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTAGGAAGTCGATCTCTTAAT	0.418000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						139	28					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													4	220					0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52676316	52676316	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr13:52676316T>G	ENST00000355568.4	-	10	861	c.722A>C	c.(721-723)cAa>cCa	p.Q241P		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	241	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		AGGAGATACTTGAAAGAGCTG	0.413000													20	252					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47648590	47648590	+	Missense_Mutation	SNP	T	T	C	rs148821408	byFrequency	TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr20:47648590T>C	ENST00000371917.4	+	38	5068	c.5068T>C	c.(5068-5070)Tgc>Cgc	p.C1690R		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1690					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TTCTAGTGTTTGCAGTGAAGC	0.383000													28	258					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)		ACACTATGTCGAAAAGTGTTT	0.532000		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)			21	7					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207173877	207173877	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr2:207173877A>G	ENST00000374423.3	+	5	5011	c.4625A>G	c.(4624-4626)gAt>gGt	p.D1542G		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1542							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GTAATTTCAGATGATATTCCC	0.398000													6	13					0	0	1	0	0
AGAP7	653268	broad.mit.edu	37	10	51465603	51465603	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr10:51465603A>C	ENST00000374095.5	-	7	978	c.853T>G	c.(853-855)Tgt>Ggt	p.C285G		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	285	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CCATTGGAACACAGGGTGACG	0.433000													28	325					0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9476055	9476055	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr3:9476055C>T	ENST00000402198.1	+	5	650	c.215C>T	c.(214-216)tCg>tTg	p.S72L	SETD5_ENST00000302463.6_5'UTR|SETD5_ENST00000406341.1_Missense_Mutation_p.S72L|SETD5_ENST00000407969.1_Missense_Mutation_p.S91L|SETD5_ENST00000402466.1_5'UTR	NM_001080517.1	NP_001073986.1	Q9C0A6	SETD5_HUMAN	SET domain containing 5	72										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GGCCTGCCGTCGCCTGTAGAG	0.552000													4	41					0	0	1	0	0
PHKA2	5256	broad.mit.edu	37	X	18913286	18913286	+	Silent	SNP	A	A	T			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chrX:18913286A>T	ENST00000379942.4	-	31	3971	c.3306T>A	c.(3304-3306)ggT>ggA	p.G1102G	PHKA2_ENST00000481718.1_5'UTR	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1102					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GGAGGACATAACCATCGATGG	0.537000													19	45					0	0	1	0	0
STPG1	90529	broad.mit.edu	37	1	24696194	24696194	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr1:24696194C>A	ENST00000374409.1	-	7	961	c.707G>T	c.(706-708)tGc>tTc	p.C236F	STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000003583.8_Missense_Mutation_p.C189F|STPG1_ENST00000440416.1_Missense_Mutation_p.C189F|STPG1_ENST00000337248.4_Missense_Mutation_p.C236F	NM_001199012.1	NP_001185941.1			sperm-tail PG-rich repeat containing 1																		AACTTTTGTGCAATCACTGGG	0.418000													6	86					0.000157383	0.000161222	1	1	0
PDE10A	10846	broad.mit.edu	37	6	165863791	165863791	+	Silent	SNP	C	C	G	rs144686330		TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr6:165863791C>G	ENST00000366882.1	-	5	409	c.255G>C	c.(253-255)cgG>cgC	p.R85R	PDE10A_ENST00000539869.2_Silent_p.R95R|PDE10A_ENST00000354448.4_Silent_p.R85R			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	85					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.R85R(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CTGTGTCCAACCGTTGTTCTA	0.348000													61	91					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57829214	57829214	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr20:57829214C>A	ENST00000371030.2	+	5	4450	c.4450C>A	c.(4450-4452)Cat>Aat	p.H1484N		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1484						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TTTTCCCCACCATGACATTGC	0.493000													4	96					0.00909568	0.00909568	1	1	0
MIA3	375056	broad.mit.edu	37	1	222827800	222827800	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr1:222827800T>C	ENST00000344922.5	+	17	4472	c.4447T>C	c.(4447-4449)Tcc>Ccc	p.S1483P	MIA3_ENST00000340535.7_Missense_Mutation_p.S361P|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.S1483P	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1483					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGCCTCCGTGTCCACTAAATG	0.373000													16	34					0	0	1	0	0
CTSW	1521	broad.mit.edu	37	11	65650804	65650804	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr11:65650804A>C	ENST00000528419.1	+	9	933	c.929A>C	c.(928-930)gAg>gCg	p.E310A	CTSW_ENST00000307886.3_Missense_Mutation_p.E310A			P56202	CATW_HUMAN	cathepsin W	310					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		ATATGGGCAGAGACAGTCTCA	0.597000													34	57					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56395723	56395723	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr17:56395723G>A	ENST00000355701.3	-	14	2660	c.1790C>T	c.(1789-1791)aCa>aTa	p.T597I	BZRAP1_ENST00000343736.4_Missense_Mutation_p.T597I|BZRAP1_ENST00000268893.6_Missense_Mutation_p.T537I	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	597						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTTCTTGGCTGTCCTTCGAGG	0.617000													3	43					0	0	1	0	0
