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
DPH5	51611	broad.mit.edu	37	1	101458271	101458271	+	Missense_Mutation	SNP	G	G	A	rs116634893	by1000genomes	TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr1:101458271G>A	ENST00000370109.3	-	7	668	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	DPH5_ENST00000427040.2_Intron|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000488176.1_Missense_Mutation_p.R186W|DPH5_ENST00000342173.7_Missense_Mutation_p.R186W	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	186					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		CTCATATACCGTGGAGGTTCA	0.418000													23	48					0	0	1	0	0
RBL2	5934	broad.mit.edu	37	16	53504686	53504686	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr16:53504686G>A	ENST00000262133.6	+	17	2692	c.2555G>A	c.(2554-2556)cGg>cAg	p.R852Q	RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	852	Domain B.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.R852L(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTCCGCCTTCGGGATCTCTGT	0.383000													28	119					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117704543	117704543	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr6:117704543G>T	ENST00000368508.3	-	16	2631	c.2433C>A	c.(2431-2433)agC>agA	p.S811R	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.S806R	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	811					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTAGTCTGGTGCTTTCCACTG	0.418000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								4	135					0.00024832	0.00024832	1	1	0
TUBB8P7	0	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr16:90162513T>C	ENST00000567960.1	+	0	1249				TUBB8P7_ENST00000564451.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													4	130					0	0	1	0	0
TTC30B	150737	broad.mit.edu	37	2	178416956	178416956	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr2:178416956G>A	ENST00000408939.2	-	1	786	c.536C>T	c.(535-537)gCc>gTc	p.A179V		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	179				Missing (in Ref. 1; BAB70953).	cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CTGCAGGGCGGCAAAAAACTT	0.542000													6	147					0	0	1	0	0
INTU	27152	broad.mit.edu	37	4	128629783	128629783	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr4:128629783G>A	ENST00000335251.5	+	13	2432	c.2329G>A	c.(2329-2331)Gac>Aac	p.D777N		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	777										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CTTGAAAAAGGACCTTCCAGA	0.303000													12	24					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21177847	21177847	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr1:21177847G>A	ENST00000602326.1	-	26	4109	c.3526C>T	c.(3526-3528)Cgg>Tgg	p.R1176W	EIF4G3_ENST00000374935.3_Missense_Mutation_p.R890W|EIF4G3_ENST00000374937.3_Missense_Mutation_p.R1176W|EIF4G3_ENST00000400422.1_Missense_Mutation_p.R1170W|EIF4G3_ENST00000264211.8_Missense_Mutation_p.R1170W|EIF4G3_ENST00000537738.1_Missense_Mutation_p.R660W|EIF4G3_ENST00000536266.1_Missense_Mutation_p.R774W	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1170					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ATCTCTCTCCGCTGCTCTTCT	0.522000													4	116					0	0	1	0	0
PDE6G	5148	broad.mit.edu	37	17	79620303	79620303	+	Silent	SNP	C	C	G			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr17:79620303C>G	ENST00000573076.1	-	2	658	c.183G>C	c.(181-183)cgG>cgC	p.R61R	PDE6G_ENST00000571224.1_Silent_p.R11R|PDE6G_ENST00000571004.1_Silent_p.R11R|PDE6G_ENST00000331056.5_Silent_p.R11R|PDE6G_ENST00000574777.1_Intron			P18545	CNRG_HUMAN	phosphodiesterase 6G, cGMP-specific, rod, gamma	11					platelet activation|visual perception	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity			lung(2)|urinary_tract(1)	3	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TGGTGGCTGACCGGAACTCAG	0.637000													30	66					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29099814	29099814	+	Missense_Mutation	SNP	T	T	G			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr18:29099814T>G	ENST00000261590.8	+	3	339	c.130T>G	c.(130-132)Tta>Gta	p.L44V	DSG2_ENST00000585206.1_Missense_Mutation_p.L44V	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	44					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			ACATCCTCATTTAGTGCGGCA	0.423000													17	40					0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486633	125486633	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr9:125486633A>G	ENST00000259466.1	+	1	365	c.365A>G	c.(364-366)gAc>gGc	p.D122G		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						ATGGCCATCGACCGGCTGGTG	0.498000													57	95					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20721141	20721141	+	Missense_Mutation	SNP	G	G	A	rs147800155	by1000genomes	TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr7:20721141G>A	ENST00000404938.2	+	15	2373	c.1721G>A	c.(1720-1722)cGg>cAg	p.R574Q	ABCB5_ENST00000258738.6_Missense_Mutation_p.R129Q	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	129	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGCAAAGGTCGGACTACAATC	0.413000													19	45					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215848559	215848559	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr1:215848559G>T	ENST00000366943.2	-	63	13080	c.12694C>A	c.(12694-12696)Cca>Aca	p.P4232T	USH2A_ENST00000307340.3_Missense_Mutation_p.P4232T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4232	Fibronectin type-III 27.		P -> R (in USH2A).		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGCGTCCATGGTTGCAAACCT	0.423000										HNSCC(13;0.011)			16	100					4.7546e-09	4.89445e-09	1	1	0
SP2	6668	broad.mit.edu	37	17	45994066	45994066	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr17:45994066T>C	ENST00000376741.4	+	3	766	c.629T>C	c.(628-630)gTg>gCg	p.V210A	AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000585280.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	210					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						GGCGGCAATGTGACGCTCACT	0.627000													25	39					0	0	1	0	0
TMEM234	56063	broad.mit.edu	37	1	32682594	32682594	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr1:32682594C>T	ENST00000545122.1	-	5	508	c.460G>A	c.(460-462)Ggc>Agc	p.G154S	TMEM234_ENST00000485689.1_Intron|TMEM234_ENST00000373593.1_3'UTR|TMEM234_ENST00000309777.6_Intron|TMEM234_ENST00000344461.3_Intron			Q8WY98	TM234_HUMAN	transmembrane protein 234	40						integral to membrane				kidney(2)|lung(3)	5						TCAGCCATGCCAGTAGGAGCT	0.552000													10	16					0	0	1	0	0
PRSS3	5646	broad.mit.edu	37	9	33797829	33797829	+	Missense_Mutation	SNP	G	G	A	rs138654302		TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr9:33797829G>A	ENST00000361005.5	+	3	374	c.374G>A	c.(373-375)cGc>cAc	p.R125H	RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000342836.4_Missense_Mutation_p.R82H|PRSS3_ENST00000379405.3_Missense_Mutation_p.R68H|PRSS3_ENST00000429677.3_Missense_Mutation_p.R61H	NM_007343.3	NP_031369.2	P35030	TRY3_HUMAN	protease, serine, 3	125	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			CCCATCAGCCGCATCCAGGTG	0.577000													4	85					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			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								24	61					0	0	1	0	0
TMEM171	134285	broad.mit.edu	37	5	72419433	72419433	+	Missense_Mutation	SNP	G	G	A	rs151305324		TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr5:72419433G>A	ENST00000454765.2	+	2	706	c.233G>A	c.(232-234)cGc>cAc	p.R78H	TMEM171_ENST00000287773.5_Missense_Mutation_p.R78H			Q8WVE6	TM171_HUMAN	transmembrane protein 171	78						integral to membrane				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		ATCCTGGCCCGCTCCCGGGCG	0.647000													18	29					0	0	1	0	0
ELOVL2	54898	broad.mit.edu	37	6	11005622	11005622	+	Missense_Mutation	SNP	C	C	T	rs146714276	by1000genomes	TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr6:11005622C>T	ENST00000354666.3	-	3	321	c.238G>A	c.(238-240)Gcg>Acg	p.A80T		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	80					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			AGCATGTACGCGGAGAGAAGT	0.438000													17	48					0	0	1	0	0
RUFY3	22902	broad.mit.edu	37	4	71659525	71659525	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr4:71659525G>A	ENST00000381006.3	+	13	1940	c.1361G>A	c.(1360-1362)cGc>cAc	p.R454H	RUFY3_ENST00000502653.1_Missense_Mutation_p.R401H	NM_001037442.2	NP_001032519.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	291					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			GAGCGAAGCCGCCAATCTGCT	0.507000													24	18					0	0	1	0	0
MYLK4	340156	broad.mit.edu	37	6	2679602	2679602	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr6:2679602G>C	ENST00000274643.7	-	9	1141	c.799C>G	c.(799-801)Cca>Gca	p.P267A	MYLK4_ENST00000268446.5_Missense_Mutation_p.P267A	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	267	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				AGAAATTCTGGGGTTCCAAAG	0.448000													15	194					0	0	1	0	0
CXCR6	10663	broad.mit.edu	37	3	45988956	45988956	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr3:45988956T>C	ENST00000458629.1	+	1	2446	c.983T>C	c.(982-984)tTt>tCt	p.F328S	CXCR6_ENST00000438735.1_Missense_Mutation_p.F328S|CXCR6_ENST00000457814.1_Missense_Mutation_p.F328S|FYCO1_ENST00000296137.2_Intron|CXCR6_ENST00000304552.4_Missense_Mutation_p.F328S|FYCO1_ENST00000535325.1_Intron|FYCO1_ENST00000438446.1_Intron			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	328					viral genome replication	integral to plasma membrane	coreceptor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TCCAAGACTTTTTCTGCCTCC	0.483000													23	69					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578208	7578208	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr17:7578208T>C	ENST00000420246.2	-	6	773	c.641A>G	c.(640-642)cAt>cGt	p.H214R	TP53_ENST00000413465.2_Missense_Mutation_p.H214R|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.H214R|TP53_ENST00000269305.4_Missense_Mutation_p.H214R|TP53_ENST00000359597.4_Missense_Mutation_p.H214R|TP53_ENST00000445888.2_Missense_Mutation_p.H214R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	214	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (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.H214R(61)|p.0?(8)|p.?(5)|p.H82R(4)|p.H214fs*33(4)|p.H121R(4)|p.H214fs*5(2)|p.D208fs*1(1)|p.H82fs*>9(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.H121fs*33(1)|p.T211_S215delTFRHS(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(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)		CACCACACTATGTCGAAAAGT	0.542000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			11	18					0	0	1	0	0
UBXN11	91544	broad.mit.edu	37	1	26629321	26629321	+	Silent	SNP	C	C	T			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr1:26629321C>T	ENST00000314675.7	-	2	133	c.54G>A	c.(52-54)tcG>tcA	p.S18S	UBXN11_ENST00000436301.2_Intron|UBXN11_ENST00000374221.3_Silent_p.S18S|UBXN11_ENST00000374223.1_Intron|UBXN11_ENST00000374217.2_Silent_p.S18S|UBXN11_ENST00000535108.1_Intron|UBXN11_ENST00000374222.1_Silent_p.S18S|UBXN11_ENST00000357089.4_Silent_p.S18S	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	18						cytoplasm|cytoskeleton		p.S18S(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						TCATAGGCTCCGAGGGCAGGG	0.547000													16	19					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42210985	42210985	+	Splice_Site	SNP	C	C	T			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr6:42210985C>T	ENST00000541110.1	-	15	3488		c.e15+1		TRERF1_ENST00000372922.4_Splice_Site|TRERF1_ENST00000372917.4_Splice_Site|TRERF1_ENST00000354325.2_Splice_Site|TRERF1_ENST00000340840.2_Splice_Site			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1						cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCTTCACTCACCACACAATCG	0.542000													25	61					0	0	1	0	0
FAM208A	23272	broad.mit.edu	37	3	56675529	56675529	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr3:56675529T>C	ENST00000431842.2	-	8	2203	c.1279A>G	c.(1279-1281)Aaa>Gaa	p.K427E	FAM208A_ENST00000493960.2_Missense_Mutation_p.K823E|FAM208A_ENST00000355628.5_Missense_Mutation_p.K823E	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	823										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TCATAGTCTTTCTTATCTGGG	0.403000													41	75					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17697556	17697556	+	Silent	SNP	C	C	T			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr2:17697556C>T	ENST00000399080.2	-	1	2150	c.2127G>A	c.(2125-2127)caG>caA	p.Q709Q		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	709								p.Q709H(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACTCATATTCTGACAAGTAA	0.313000													4	84					0	0	1	0	0
APOBEC3F	200316	broad.mit.edu	37	22	39448228	39448228	+	Silent	SNP	G	G	A			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr22:39448228G>A	ENST00000308521.5	+	6	1230	c.873G>A	c.(871-873)ctG>ctA	p.L291L	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	299					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					CCGAGTTCCTGGCCAGGCACA	0.567000													30	67					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76938326	76938326	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chrX:76938326G>A	ENST00000373344.5	-	9	2636	c.2422C>T	c.(2422-2424)Cga>Tga	p.R808*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R770*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	808					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)	tGGGTTTGTCGTTTCTTTTTA	0.338000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						86	44					0	0	1	0	0
PTPN12	0	broad.mit.edu	37	7	77256458	77256458	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr7:77256458G>A	ENST00000248594.6	+	13	1734	c.1462G>A	c.(1462-1464)Ggt>Agt	p.G488S	PTPN12_ENST00000415482.2_Missense_Mutation_p.G369S|PTPN12_ENST00000435495.2_Missense_Mutation_p.G358S	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	488						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TCTAAATGTCGGTGATACTTC	0.383000													21	45					0	0	1	0	0
PRSS3P2	0	broad.mit.edu	37	7	142481923	142481925	+	RNA	DEL	CAA	CAA	-			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr7:142481923_142481925delCAA	ENST00000603901.1	+	0	591					NR_001296.3																						GTGATTAGACCAACCCTTCCCAT	0.537													8	48	---	---	---	---					
FAM66B	0	broad.mit.edu	37	8	7196263	7196264	+	RNA	DEL	AC	AC	-			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr8:7196263_7196264delAC	ENST00000606573.1	-	0	703																											ACTGAGGGGTacacacacacac	0.500													2	4	---	---	---	---					
RP11-65M17.3	0	broad.mit.edu	37	11	112332120	112332121	+	RNA	INS	-	-	T	rs111710457		TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr11:112332120_112332121insT	ENST00000528496.1	+	0	231																											CTGATTTTATGTTTTTTTTTTT	0.376													2	4	---	---	---	---					
SLCO1B1	10599	broad.mit.edu	37	12	21392085	21392086	+	Frame_Shift_Ins	INS	-	-	T			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr12:21392085_21392086insT	ENST00000256958.2	+	15	2134_2135	c.2038_2039insT	c.(2038-2040)cccfs	p.P680fs		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	680					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TAAACATTTTGTCCCTTCTGCT	0.351													29	73	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49442512	49442514	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr12:49442512_49442514delTCC	ENST00000301067.7	-	13	4058_4060	c.4059_4061delGGA	c.(4057-4062)gaa>ga	p.EE1353del		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ATCATCTTCTTCCTCCTCCTCCT	0.478													7	307	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578250	7578250	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr17:7578250delT	ENST00000420246.2	-	6	731	c.599delA	c.(598-600)atfs	p.N200fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.N200fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.N200fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Frame_Shift_Del_p.N200fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.N200fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.N200fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	200	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		N -> D (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|N -> S (in sporadic cancers; somatic mutation).|N -> T (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.N200fs*47(2)|p.N200I(2)|p.N200S(2)|p.E198_L201>V(1)|p.N200fs*4(1)|p.E198fs*7(1)|p.N200fs*9(1)|p.N200fs*8(1)|p.P191fs*6(1)|p.N200T(1)|p.G199fs*42(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)		CACACGCAAATTTCCTTCCAC	0.547		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)			11	30	---	---	---	---					
LRP3	4037	broad.mit.edu	37	19	33698349	33698349	+	Frame_Shift_Del	DEL	C	C	-			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr19:33698349delC	ENST00000253193.7	+	7	2383	c.2181delC	c.(2179-2181)cafs	p.H727fs		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	727					receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					AGGACCCGCACCCCCAGGTCT	0.701													2	4	---	---	---	---					
