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
EVC	2121	broad.mit.edu	37	4	5755633	5755633	+	Silent	SNP	G	G	A	rs112861104	byFrequency	TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr4:5755633G>A	ENST00000382674.2	+	10	1621	c.1437G>A	c.(1435-1437)ccG>ccA	p.P479P	EVC_ENST00000264956.6_Silent_p.P479P|EVC_ENST00000509451.1_Silent_p.P479P			P57679	EVC_HUMAN	Ellis van Creveld syndrome	479					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				AGGCCCAGCCGACTGCTGACC	0.602000													7	77					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17057923	17057923	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr19:17057923C>T	ENST00000443236.1	-	21	2795	c.2764G>A	c.(2764-2766)Gtt>Att	p.V922I		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	875						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AAGGACAGAACGACCCAGATG	0.597000													15	176					0	0	1	0	0
MOGAT3	346606	broad.mit.edu	37	7	100841499	100841499	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr7:100841499C>G	ENST00000223114.4	-	5	807	c.641G>C	c.(640-642)gGc>gCc	p.G214A	MOGAT3_ENST00000440203.2_Missense_Mutation_p.G214A|MOGAT3_ENST00000379423.3_Missense_Mutation_p.G214A	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	214					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GCGCACGAAGCCTTTGCGCTT	0.647000													6	73					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43548590	43548590	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr7:43548590C>T	ENST00000395891.1	+	24	4494	c.3889C>T	c.(3889-3891)Cgg>Tgg	p.R1297W	AC011738.4_ENST00000436105.1_RNA|HECW1_ENST00000453890.1_Missense_Mutation_p.R1263W	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1297	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGGCCCCTCGCGGGAGTTCTT	0.537000													14	203					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274205	39274205	+	Silent	SNP	T	T	C	rs80322614		TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr17:39274205T>C	ENST00000391413.2	-	1	401	c.363A>G	c.(361-363)agA>agG	p.R121R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	121	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.R121R(1)		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)			agcactggggtctgcagcagc	0.647000													5	69					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134734	128134734	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr6:128134734G>A	ENST00000368250.1	-	5	1313	c.815C>T	c.(814-816)aCg>aTg	p.T272M	THEMIS_ENST00000543064.1_Missense_Mutation_p.T351M|THEMIS_ENST00000537166.1_Missense_Mutation_p.T316M|THEMIS_ENST00000368248.2_Missense_Mutation_p.T351M			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	351	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GTCATAGGCCGTTGGGAACTC	0.473000													14	152					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27464950	27464950	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr2:27464950G>A	ENST00000264705.4	+	39	6217	c.6055G>A	c.(6055-6057)Gac>Aac	p.D2019N	CAD_ENST00000403525.1_Missense_Mutation_p.D1956N	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	2019	ATCase (Aspartate transcarbamylase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CTGCTATGCCGACGTCGTCGT	0.637000													6	82					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													5	110					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7211110	7211110	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr6:7211110C>T	ENST00000379938.2	+	7	1036	c.499C>T	c.(499-501)Cga>Tga	p.R167*	RREB1_ENST00000349384.6_Nonsense_Mutation_p.R167*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.R167*|RREB1_ENST00000334984.6_Nonsense_Mutation_p.R167*	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	167					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GAAACGTAGGCGATTGTCCTC	0.507000													17	242					0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66833501	66833501	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr1:66833501C>T	ENST00000423207.2	+	12	1947	c.1462C>T	c.(1462-1464)Cgt>Tgt	p.R488C	PDE4B_ENST00000371049.3_Missense_Mutation_p.R503C|PDE4B_ENST00000480109.2_Missense_Mutation_p.R270C|PDE4B_ENST00000371045.5_Missense_Mutation_p.R331C|PDE4B_ENST00000329654.4_Missense_Mutation_p.R503C	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	503					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CAAGAAGCAGCGTCAGACACT	0.403000													14	194					0	0	1	0	0
HLA-DRB6	3128	broad.mit.edu	37	6	32521666	32521666	+	RNA	SNP	T	T	C	rs117454723	by1000genomes	TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr6:32521666T>C	ENST00000411500.1	-	0	817					NR_001298.1																						AACAGCCCTGTCCCAAGGAAG	0.507000													3	29					0	0	1	0	0
GATA4	2626	broad.mit.edu	37	8	11606458	11606458	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr8:11606458A>T	ENST00000335135.4	+	3	1205	c.647A>T	c.(646-648)gAg>gTg	p.E216V	GATA4_ENST00000532059.1_Missense_Mutation_p.E217V|GATA4_ENST00000528712.1_Missense_Mutation_p.E10V	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	216					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		GAAGGCAGAGAGTGTGTCAAC	0.522000													21	261					0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54957055	54957055	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chrX:54957055G>A	ENST00000173898.7	+	12	4010	c.3898G>A	c.(3898-3900)Ggc>Agc	p.G1300S	TRO_ENST00000420798.2_Missense_Mutation_p.G831S|TRO_ENST00000319167.8_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.G903S	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1300	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TGCTAGTTTCGGCAGCACACT	0.582000													10	135					0	0	1	0	0
GRHL2	79977	broad.mit.edu	37	8	102585954	102585954	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr8:102585954G>T	ENST00000251808.3	+	6	1131	c.793G>T	c.(793-795)Ggc>Tgc	p.G265C	GRHL2_ENST00000395927.1_Missense_Mutation_p.G249C	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	265						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GCAGGGGGAGGGCCCCATGAC	0.517000													5	75					0.014758	0.0150169	1	1	0
NLRP12	91662	broad.mit.edu	37	19	54313706	54313706	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr19:54313706C>T	ENST00000324134.6	-	3	1375	c.1207G>A	c.(1207-1209)Gtc>Atc	p.V403I	NLRP12_ENST00000391775.3_Missense_Mutation_p.V403I|NLRP12_ENST00000351894.4_Missense_Mutation_p.V403I|NLRP12_ENST00000391773.1_Missense_Mutation_p.V403I|NLRP12_ENST00000535162.1_Missense_Mutation_p.V403I|NLRP12_ENST00000345770.5_Missense_Mutation_p.V403I|NLRP12_ENST00000354278.3_Missense_Mutation_p.V403I|NLRP12_ENST00000391772.1_Missense_Mutation_p.V403I	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	403	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.V403F(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		ACCAGGGGGACGAAGCACATG	0.557000													15	300					0	0	1	0	0
H2AFY2	55506	broad.mit.edu	37	10	71835457	71835457	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr10:71835457C>T	ENST00000373255.4	+	2	307	c.43C>T	c.(43-45)Cgt>Tgt	p.R15C		NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	15	Histone H2A.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	p.R15S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						CAAGCTGTCCCGTTCAGCTAG	0.552000													13	107					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53844233	53844233	+	Missense_Mutation	SNP	C	C	T	rs142692903		TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr3:53844233C>T	ENST00000288139.3	+	48	6278	c.6160C>T	c.(6160-6162)Cgg>Tgg	p.R2054W	CACNA1D_ENST00000544977.1_3'UTR|CACNA1D_ENST00000422281.2_Missense_Mutation_p.R2010W|CACNA1D_ENST00000350061.5_Missense_Mutation_p.R2034W	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	2034					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CATCTCCTACCGGACTTTCAC	0.612000													9	88					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195410687	195410687	+	RNA	SNP	T	T	A	rs6583274	by1000genomes	TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr3:195410687T>A	ENST00000445430.1	+	0	1884																											CCCTTTGAGGTGCACTGGAGG	0.567000													9	19					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and 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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			4	91					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274206	39274206	+	Missense_Mutation	SNP	C	C	T	rs79388709		TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr17:39274206C>T	ENST00000391413.2	-	1	400	c.362G>A	c.(361-363)aGa>aAa	p.R121K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	121	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.R121K(5)		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)			gcactggggtctgcagcagct	0.652000													4	68					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35632943	35632943	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr13:35632943T>G	ENST00000400445.3	+	8	1716	c.1182T>G	c.(1180-1182)agT>agG	p.S394R	NBEA_ENST00000379939.2_Missense_Mutation_p.S394R|NBEA_ENST00000310336.4_Missense_Mutation_p.S394R|NBEA_ENST00000540320.1_Missense_Mutation_p.S394R	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	394						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATGTGTTCAGTGAAGCACTCA	0.368000													4	33					0	0	1	0	0
ZNF473	25888	broad.mit.edu	37	19	50549267	50549267	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr19:50549267C>T	ENST00000595661.1	+	6	2062	c.1567C>T	c.(1567-1569)Cgc>Tgc	p.R523C	ZNF473_ENST00000445728.3_Missense_Mutation_p.R511C|ZNF473_ENST00000391821.2_Missense_Mutation_p.R523C|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Missense_Mutation_p.R523C|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	523	Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GTGCGGAGAACGCTTCATTTG	0.473000													13	110					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51913418	51913418	+	Splice_Site	SNP	C	C	A			TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr6:51913418C>A	ENST00000371117.3	-	23	2555		c.e23-1		PKHD1_ENST00000340994.4_Splice_Site	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)						cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGGCACAGAGCTGTGGCACGT	0.547000													7	75					2.0095e-06	2.11911e-06	1	1	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18						keratin filament		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627000													11	55					0	0	1	0	0
ZNF256	10172	broad.mit.edu	37	19	58452348	58452348	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr19:58452348T>C	ENST00000282308.3	-	3	2024	c.1828A>G	c.(1828-1830)Aaa>Gaa	p.K610E	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	610					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GTAAAAAATTTTCCACAGTCA	0.433000													11	137					0	0	1	0	0
C14orf105	55195	broad.mit.edu	37	14	57949821	57949821	+	Silent	SNP	G	G	A			TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr14:57949821G>A	ENST00000216445.3	-	3	491	c.355C>T	c.(355-357)Ctg>Ttg	p.L119L	C14orf105_ENST00000534126.1_Silent_p.L119L|C14orf105_ENST00000526336.1_3'UTR|C14orf105_ENST00000422976.2_Silent_p.L119L	NM_018168.2	NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	119										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						CGCTGGCTCAGGAGTCTTCCT	0.517000													10	93					0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114832597	114832597	+	Silent	SNP	G	G	A			TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr12:114832597G>A	ENST00000310346.4	-	6	1278	c.612C>T	c.(610-612)caC>caT	p.H204H	TBX5_ENST00000349716.5_Silent_p.H154H|TBX5_ENST00000526441.1_Silent_p.H204H|TBX5_ENST00000405440.2_Silent_p.H204H	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	204					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CAGGAAAGACGTGAGTGCAGA	0.453000													26	280					0	0	1	0	0
PSEN1	5663	broad.mit.edu	37	14	73640327	73640327	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr14:73640327A>G	ENST00000324501.5	+	5	664	c.392A>G	c.(391-393)cAc>cGc	p.H131R	PSEN1_ENST00000261970.3_Missense_Mutation_p.H131R|PSEN1_ENST00000557511.1_Missense_Mutation_p.H131R|PSEN1_ENST00000357710.4_Missense_Mutation_p.H127R|PSEN1_ENST00000394157.3_Missense_Mutation_p.H131R|PSEN1_ENST00000344094.3_Missense_Mutation_p.H131R|PSEN1_ENST00000406768.1_Missense_Mutation_p.H39R|PSEN1_ENST00000394164.1_Missense_Mutation_p.H127R	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	131					amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		AGAGCCCTGCACTCAATTCTG	0.433000													14	189					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													4	97					0	0	1	0	0
C21orf128	150147	broad.mit.edu	37	21	43524058	43524058	+	Missense_Mutation	SNP	G	G	A	rs139481180		TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr21:43524058G>A	ENST00000329015.2	-	2	326	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	UMODL1_ENST00000408910.2_Silent_p.A460A|UMODL1_ENST00000400424.1_Silent_p.A388A|UMODL1_ENST00000400427.1_Silent_p.A388A|UMODL1_ENST00000408989.2_Silent_p.A460A					chromosome 21 open reading frame 128											lung(4)	4						CTCTCCAGGCGGGAAGTGTGG	0.597000													23	182					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72413896	72413896	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr7:72413896A>G	ENST00000395270.1	+	14	3610	c.2569A>G	c.(2569-2571)Acc>Gcc	p.T857A	POM121_ENST00000434423.2_Missense_Mutation_p.T1122A|POM121_ENST00000446813.1_Missense_Mutation_p.T857A|POM121_ENST00000358357.3_Missense_Mutation_p.T857A|POM121_ENST00000257622.4_Missense_Mutation_p.T857A	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1122	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.T857A(8)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGGCTCCAGCACCACCACCGG	0.637000													3	40					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148327	34148327	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chrX:34148327C>T	ENST00000346193.3	-	1	2120	c.2069G>A	c.(2068-2070)cGt>cAt	p.R690H		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	690										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CATCTTCACACGCTGTGCGGT	0.428000													18	171					0	0	1	0	0
PTGIR	5739	broad.mit.edu	37	19	47124819	47124819	+	Silent	SNP	G	G	T			TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr19:47124819G>T	ENST00000291294.2	-	3	1012	c.879C>A	c.(877-879)atC>atA	p.I293I	PTGIR_ENST00000597185.1_Silent_p.I22I|PTGIR_ENST00000594275.1_Silent_p.I50I|PTGIR_ENST00000598865.1_Silent_p.I81I	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	293					cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	TGCGGAAAAGGATGAAGACCC	0.632000													9	113					7.48243e-07	8.03668e-07	1	1	0
MRPS12	6183	broad.mit.edu	37	19	39423302	39423302	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr19:39423302C>T	ENST00000407800.2	+	2	720	c.379C>T	c.(379-381)Cgt>Tgt	p.R127C	MRPS12_ENST00000402029.3_Missense_Mutation_p.R127C|CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000448145.2_Intron|MRPS12_ENST00000308018.4_Missense_Mutation_p.R127C	NM_021107.1	NP_066930.1	O15235	RT12_HUMAN	mitochondrial ribosomal protein S12	127					translation	mitochondrial ribosome|small ribosomal subunit	protein binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)	2	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CACCGTTGTGCGTGGCAAGTA	0.657000													9	96					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839353	62839353	+	Silent	SNP	A	A	G			TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr20:62839353A>G	ENST00000536311.1	+	7	1168	c.804A>G	c.(802-804)gaA>gaG	p.E268E	MYT1_ENST00000328439.1_Silent_p.E268E|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	268	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E268E(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaagaggaggagg	0.572000													3	20					0	0	1	0	0
SESN1	27244	broad.mit.edu	37	6	109323540	109323540	+	Missense_Mutation	SNP	C	C	T	rs146922968	byFrequency	TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr6:109323540C>T	ENST00000436639.2	-	2	1031	c.286G>A	c.(286-288)Ggc>Agc	p.G96S	SESN1_ENST00000302071.2_5'UTR|SESN1_ENST00000356644.7_Missense_Mutation_p.G37S	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	37					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		ATTCTAATGCCAAGTTCCTAG	0.423000													5	64					0	0	1	0	0
PDZD7	79955	broad.mit.edu	37	10	102783327	102783327	+	Silent	SNP	C	C	G			TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr10:102783327C>G	ENST00000370215.3	-	4	633	c.408G>C	c.(406-408)gtG>gtC	p.V136V	PDZD7_ENST00000470414.1_Silent_p.V136V	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	136	PDZ 1.					cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		TCAGCCCATTCACCTCCGTGA	0.667000													8	70					0	0	1	0	0
LOC100288069	100288069	broad.mit.edu	37	1	700532	700532	+	RNA	DEL	T	T	-			TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr1:700532delT	ENST00000428504.1	-	0	1021					NR_033908.1																						aaaaaaaaaaTTCCTTTGGGA	0.453													3	6	---	---	---	---					
DPY19L2P1	554236	broad.mit.edu	37	7	35131318	35131318	+	RNA	DEL	T	T	-			TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr7:35131318delT	ENST00000436258.1	-	0	2051																											GTTATTGTCATTTTTTTTTAA	0.378													2	4	---	---	---	---					
KRT10	3858	broad.mit.edu	37	17	38978766	38978768	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr17:38978766_38978768delTCC	ENST00000269576.5	-	1	79_81	c.70_72delGGA	c.(70-72)del	p.G24del	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	24	Gly-rich.|Head.			Missing (in Ref. 1; AAA60544).	epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ctcctccacatcctcctcctcct	0.547													8	88	---	---	---	---					
RP11-161I6.2	0	broad.mit.edu	37	18	2089465	2089466	+	RNA	DEL	CA	CA	-	rs150342638	by1000genomes	TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr18:2089465_2089466delCA	ENST00000579097.1	-	0	310																											ACTGCCCCCCCACCCACTCACC	0.525													3	5	---	---	---	---					
ZNF579	163033	broad.mit.edu	37	19	56089908	56089909	+	In_Frame_Ins	INS	-	-	CCG	rs141478862	by1000genomes	TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr19:56089908_56089909insCCG	ENST00000325421.4	-	2	1125_1126	c.1097_1098insCGG	c.(1096-1098)gca>gCGGca	p.366_366A>AA		NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	366	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G366_Q367insG(1)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		CTCCGTTCTGCCCTTCTCCCCC	0.748													10	8	---	---	---	---					
BMS1P20	96610	broad.mit.edu	37	22	22661170	22661170	+	RNA	DEL	T	T	-	rs58170086		TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chr22:22661170delT	ENST00000426066.1	+	0	262					NR_027293.1																						AGCATACAGGTTTTCCCCCCC	0.403													12	45	---	---	---	---					
PHF8	23133	broad.mit.edu	37	X	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chrX:54011405_54011407delCTC	ENST00000338154.6	-	18	2887_2889	c.2383_2385delGAG	c.(2383-2385)del	p.E795del	PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831	Ser-rich.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591													7	332	---	---	---	---					
NRK	203447	broad.mit.edu	37	X	105152999	105153000	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chrX:105152999_105153000delAA	ENST00000428173.2	+	13	1672_1673	c.1369_1370delAA	c.(1369-1371)afs	p.K457fs	NRK_ENST00000243300.9_Frame_Shift_Del_p.K456fs			Q7Z2Y5	NRK_HUMAN	Nik related kinase	456	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGTGAAGGCTAAAGCCTCTAAA	0.569										HNSCC(51;0.14)			9	62	---	---	---	---					
GUCY2F	2986	broad.mit.edu	37	X	108619355	108619355	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8619-01A-11D-2393-08	TCGA-55-8619-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	843da420-d09b-4faf-be3e-aa18b2b6e8e6	95351992-86bd-404a-983c-7f5a37161dcd	g.chrX:108619355delT	ENST00000218006.2	-	18	3483	c.3192delA	c.(3190-3192)aafs	p.K1064fs		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1064					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCATGAAGCCTTTTTTCCCAA	0.418													7	526	---	---	---	---					
