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
B4GALNT2	124872	broad.mit.edu	37	17	47241556	47241556	+	Silent	SNP	C	C	T			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr17:47241556C>T	ENST00000300404.2	+	8	1112	c.1053C>T	c.(1051-1053)acC>acT	p.T351T	B4GALNT2_ENST00000504681.1_Silent_p.T265T|B4GALNT2_ENST00000393354.2_Silent_p.T291T	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	351					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	p.T351T(1)		endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CAGACTTGACCGTAATAGTGG	0.483000													74	109					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496770	20496770	+	RNA	SNP	T	T	C	rs3865047	by1000genomes	TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr15:20496770T>C	ENST00000555186.1	+	0	823					NR_038836.1																						TTATAGTGTGTATTTTAATTA	0.353000													4	46					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169116337	169116337	+	Splice_Site	SNP	G	G	A			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr5:169116337G>A	ENST00000256935.8	+	9	923	c.843G>A	c.(841-843)acG>acA	p.T281T		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	281					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGTCTTCACGGTGAGTGTGC	0.547000													3	64					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50099289	50099289	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr19:50099289G>A	ENST00000418929.2	+	4	1709	c.1697G>A	c.(1696-1698)cGt>cAt	p.R566H		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	330	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CACATCATTCGTCCGCTCCAG	0.672000													3	45					0	0	1	0	0
SUFU	51684	broad.mit.edu	37	10	104356987	104356987	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr10:104356987G>A	ENST00000369902.3	+	7	1013	c.847G>A	c.(847-849)Gag>Aag	p.E283K	SUFU_ENST00000423559.2_Missense_Mutation_p.E283K|SUFU_ENST00000369899.2_Missense_Mutation_p.E283K|SUFU_ENST00000471000.1_3'UTR	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	283					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding	p.E283K(1)		breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		CCGGCCCCCCGAGGATGACGA	0.602000			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation		OREG0020482	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	71					0	0	1	0	0
NEDD9	4739	broad.mit.edu	37	6	11213626	11213626	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr6:11213626C>T	ENST00000379446.5	-	2	513	c.347G>A	c.(346-348)gGa>gAa	p.G116E	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.G116E|NEDD9_ENST00000379433.5_Missense_Mutation_p.G116E	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	116	Interacts strongly with spindle- regulatory protein D1M1.				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TTGGTAAATTCCCTGATTTTG	0.552000													46	66					0	0	1	0	0
NSUN5	55695	broad.mit.edu	37	7	72718793	72718793	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr7:72718793C>T	ENST00000428206.1	-	6	605	c.592G>A	c.(592-594)Gcc>Acc	p.A198T	NSUN5_ENST00000310326.8_Missense_Mutation_p.A236T|NSUN5_ENST00000252594.6_Missense_Mutation_p.A236T|NSUN5_ENST00000438747.2_Missense_Mutation_p.A236T	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	236							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				TTGCCTGGGGCGGCACAGGCA	0.597000													4	52					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234847747	234847747	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr2:234847747G>A	ENST00000324695.4	+	5	494	c.454G>A	c.(454-456)Gcc>Acc	p.A152T	TRPM8_ENST00000409625.1_Missense_Mutation_p.A75T|TRPM8_ENST00000355722.4_Missense_Mutation_p.A102T|TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	152						integral to membrane		p.A152T(2)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GACCGGGGGCGCCAAGAACTT	0.607000													5	71					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684511	100684511	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr7:100684511C>T	ENST00000306151.4	+	3	9878	c.9814C>T	c.(9814-9816)Cca>Tca	p.P3272S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3272	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCTCAAC	0.502000													7	852					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76939354	76939354	+	Nonsense_Mutation	SNP	G	G	C			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chrX:76939354G>C	ENST00000373344.5	-	9	1608	c.1394C>G	c.(1393-1395)tCa>tGa	p.S465*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S427*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	465					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTGTTTTCTTGAAAGTTTAGC	0.353000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						141	245					0	0	1	0	0
OLR1	4973	broad.mit.edu	37	12	10312559	10312559	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr12:10312559G>A	ENST00000309539.3	-	6	802	c.742C>T	c.(742-744)Cga>Tga	p.R248*	OLR1_ENST00000432556.2_3'UTR|OLR1_ENST00000545927.1_3'UTR|OLR1_ENST00000544577.1_Intron|OLR1_ENST00000543993.1_3'UTR	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	248	C-type lectin.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						ACAGCTCCTCGTTGTATATAT	0.428000													51	85					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs149439944	by1000genomes	TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662000													5	43					0	0	1	0	0
RCC2	55920	broad.mit.edu	37	1	17735688	17735688	+	Silent	SNP	G	G	A			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr1:17735688G>A	ENST00000375436.4	-	13	1654	c.1467C>T	c.(1465-1467)gtC>gtT	p.V489V	RCC2_ENST00000375433.3_Silent_p.V489V	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	489					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		AGCCCATGGCGACCTGGGGGG	0.522000													25	66					0	0	1	0	0
UTP3	57050	broad.mit.edu	37	4	71555330	71555330	+	Silent	SNP	C	C	A			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr4:71555330C>A	ENST00000254803.2	+	1	1135	c.936C>A	c.(934-936)tcC>tcA	p.S312S		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	312					brain development|chromatin modification|gene silencing	nucleolus				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			ACAAGCTGTCCGTTGTGGATC	0.418000													17	264					2.35188e-11	2.5594e-11	1	1	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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								32	54					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron	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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(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)		GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			9	16					0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219297657	219297657	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr2:219297657C>A	ENST00000248444.5	+	13	1571	c.1483C>A	c.(1483-1485)Cgc>Agc	p.R495S	VIL1_ENST00000392114.2_Missense_Mutation_p.R184S	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	495	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	p.R495C(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTCAAGGGACGCATGGTGGT	0.562000													3	42					0.004672	0.00480178	1	1	0
PCDHB4	56131	broad.mit.edu	37	5	140503914	140503914	+	Silent	SNP	C	C	G			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr5:140503914C>G	ENST00000194152.1	+	1	2334	c.2334C>G	c.(2332-2334)acC>acG	p.T778T		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		778					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCAGGACACCGGGAGGGAAG	0.448000													49	59					0	0	1	0	0
IGHV3-43	28426	broad.mit.edu	37	14	106926482	106926482	+	RNA	SNP	T	T	C			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr14:106926482T>C	ENST00000434710.1	-	0	139																											CCAGCTGCACTTCACACTGGA	0.527000													4	107					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179440352	179440352	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr2:179440352A>C	ENST00000589042.1	-	326	70731	c.70507T>G	c.(70507-70509)Tgt>Ggt	p.C23503G	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.C14563G|TTN_ENST00000460472.2_Missense_Mutation_p.C14438G|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.C20935G|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.C14630G|TTN_ENST00000591111.1_Missense_Mutation_p.C21862G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21862	Ig-like 119.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAATATTCACACCCTTCAGAC	0.438000													10	91					0	0	1	0	0
RBM25	58517	broad.mit.edu	37	14	73572994	73572994	+	Splice_Site	SNP	G	G	A			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr14:73572994G>A	ENST00000261973.7	+	12	1752		c.e12+1		RBM25_ENST00000527432.1_Splice_Site|RBM25_ENST00000532483.1_Splice_Site	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25						apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		AAGAGAAATGGTAAGATTCTA	0.328000													12	24					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123518249	123518249	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chrX:123518249G>A	ENST00000422452.2	-	30	6595	c.6532C>T	c.(6532-6534)Cgt>Tgt	p.R2178C	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.R2171C	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TAACTATAACGCCACTGGGTT	0.448000													45	105					0	0	1	0	0
CHM	1121	broad.mit.edu	37	X	85218743	85218743	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chrX:85218743G>A	ENST00000357749.2	-	5	658	c.629C>T	c.(628-630)cCa>cTa	p.P210L	CHM_ENST00000537751.1_Missense_Mutation_p.P62L|CHM_ENST00000467744.2_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	210					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				GTTTTTCTTTGGTTGCTCTGT	0.333000													42	66					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767582	31767582	+	Silent	SNP	A	A	G			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr19:31767582A>G	ENST00000240587.4	-	2	3444	c.3117T>C	c.(3115-3117)acT>acC	p.T1039T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1039					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ACTGATAGGAAGTCCCCAGGT	0.488000													21	28					0	0	1	0	0
CHODL	140578	broad.mit.edu	37	21	19629023	19629023	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr21:19629023G>T	ENST00000299295.2	+	2	668	c.277G>T	c.(277-279)Ggg>Tgg	p.G93W	CHODL_ENST00000400131.1_Missense_Mutation_p.G52W|CHODL_ENST00000400135.1_Missense_Mutation_p.G52W|CHODL_ENST00000400127.1_Missense_Mutation_p.G52W|CHODL_ENST00000400128.1_Missense_Mutation_p.G52W|CHODL_ENST00000543733.1_Missense_Mutation_p.G74W|CHODL_ENST00000338326.3_Missense_Mutation_p.G52W	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	93	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		ACCCGGGACAGGGATTTCTGA	0.498000													4	61					0.00909568	0.00909568	1	1	0
SYCP1	6847	broad.mit.edu	37	1	115488993	115488993	+	Silent	SNP	A	A	G			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr1:115488993A>G	ENST00000369522.3	+	26	2478	c.2238A>G	c.(2236-2238)agA>agG	p.R746R	SYCP1_ENST00000369518.1_Silent_p.R746R	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	746					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATCACTGAGAGCATCTTTGG	0.323000													4	90					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62196717	62196717	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr20:62196717C>T	ENST00000467148.1	-	8	3527	c.3458G>A	c.(3457-3459)gGc>gAc	p.G1153D	HELZ2_ENST00000427522.2_Missense_Mutation_p.G584D	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CTGGATGGGGCCCGAGGAGGC	0.697000													13	6					0	0	1	0	0
ZNF703	80139	broad.mit.edu	37	8	37556023	37556023	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr8:37556023G>A	ENST00000331569.4	+	2	1833	c.1604G>A	c.(1603-1605)cGg>cAg	p.R535Q		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	535					adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			CTGTCCTTGCGGAATCCACAC	0.751000													7	7					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22438138	22438138	+	Silent	SNP	G	G	A			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr4:22438138G>A	ENST00000334304.5	-	9	1481	c.1212C>T	c.(1210-1212)ggC>ggT	p.G404G	GPR125_ENST00000502482.1_Silent_p.G404G|GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Silent_p.G178G	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	404					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CTGCCCAAAAGCCACCTCTAT	0.438000													25	47					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123663835	123663835	+	Splice_Site	SNP	T	T	A			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chrX:123663835T>A	ENST00000422452.2	-	16	2715		c.e16-2		TENM1_ENST00000371130.3_Splice_Site	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CAGGCACGCCTGCAACACAAG	0.428000													5	64					0	0	1	0	0
LINC00303	284573	broad.mit.edu	37	1	204010206	204010206	+	RNA	DEL	A	A	-			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr1:204010206delA	ENST00000367207.3	-	0	174																											CCCCTGGCTTAATTATTTGCA	0.478													2	4	---	---	---	---					
ATP10D	57205	broad.mit.edu	37	4	47517508	47517509	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr4:47517508_47517509delTT	ENST00000273859.3	+	3	575_576	c.306_307delTT	c.(304-309)tatttcfs	p.F103fs	ATP10D_ENST00000504445.1_Frame_Shift_Del_p.F103fs	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	103					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CCAATTTATATTTCCTGTTCCT	0.421													52	67	---	---	---	---					
PHF3	23469	broad.mit.edu	37	6	64395000	64395000	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr6:64395000delA	ENST00000262043.3	+	4	1717	c.1377delA	c.(1375-1377)atafs	p.I459fs	PHF3_ENST00000509330.1_Frame_Shift_Del_p.I459fs|PHF3_ENST00000393387.1_Frame_Shift_Del_p.I459fs			Q92576	PHF3_HUMAN	PHD finger protein 3	459					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTACTAAAATAGAGTCCCATG	0.358													46	64	---	---	---	---					
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr9:43844265delG	ENST00000377564.3	+	10	1992	c.1599delG	c.(1597-1599)gcgfs	p.A533fs		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	533	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGCAGGGGGCGCTGGGGAGTT	0.542													5	3	---	---	---	---					
SCARNA6	677772	broad.mit.edu	37	16	21598984	21598985	+	RNA	INS	-	-	T			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr16:21598984_21598985insT	ENST00000516989.1	+	0	37_38																											ccagcagcCCATTTTTTTTTTC	0.366													3	5	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577600	7577600	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr17:7577600delA	ENST00000420246.2	-	7	813	c.681delT	c.(679-681)tctfs	p.S227fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.S227fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.S227fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.S227fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S227fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Frame_Shift_Del_p.S227fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	227	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in sporadic cancers; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in a sporadic cancer; somatic mutation).|S -> T (in LFS; germline mutation and in a sporadic cancer; 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.0?(8)|p.?(5)|p.S227S(3)|p.?fs(2)|p.V225_S227delVGS(2)|p.S227fs*1(1)|p.G226_D228delGSD(1)|p.D228fs*1(1)|p.V225fs*23(1)|p.S227_I232delSDCTTI(1)|p.D228fs*19(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)		TGGTACAGTCAGAGCCAACCT	0.522		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)			19	25	---	---	---	---					
ITSN1	6453	broad.mit.edu	37	21	35237613	35237613	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr21:35237613delC	ENST00000381318.3	+	32	4337	c.4049delC	c.(4048-4050)gccfs	p.A1350fs	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Frame_Shift_Del_p.A1345fs|ITSN1_ENST00000381285.4_Frame_Shift_Del_p.A1350fs|ITSN1_ENST00000437442.2_Frame_Shift_Del_p.A1345fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1350	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ACGGATGAGGCCCCAGACTTC	0.607													2	4	---	---	---	---					
