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
CYP2C8	1558	broad.mit.edu	37	10	96824643	96824643	+	Nonsense_Mutation	SNP	G	G	A	rs72558195	byFrequency	TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr10:96824643G>A	ENST00000371270.3	-	4	650	c.556C>T	c.(556-558)Cga>Tga	p.R186*	CYP2C8_ENST00000535898.1_Nonsense_Mutation_p.R84*|CYP2C8_ENST00000539050.1_Nonsense_Mutation_p.R100*	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	186					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TAATCAAATCGTTTCTGGAAA	0.388000													40	34					0	0	1	0	0
FMN1	342184	broad.mit.edu	37	15	33260987	33260987	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr15:33260987C>T	ENST00000334528.9	-	4	2245	c.2246G>A	c.(2245-2247)cGa>cAa	p.R749Q	FMN1_ENST00000559047.1_Missense_Mutation_p.R972Q|FMN1_ENST00000561249.1_Missense_Mutation_p.R874Q	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	972	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GGCTGGTTTTCGAGGACATTG	0.537000													39	72					0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52260509	52260509	+	Silent	SNP	C	C	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:52260509C>A	ENST00000354831.7	-	25	3015	c.2826G>T	c.(2824-2826)ctG>ctT	p.L942L	RP4-657D16.3_ENST00000588291.1_RNA|NRD1_ENST00000544028.1_3'UTR|NRD1_ENST00000539524.1_Silent_p.L810L|RP4-657D16.3_ENST00000586761.1_RNA|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Silent_p.L874L	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	873					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						CAACATATTTCAGGAAATCCA	0.358000													36	111					5.71845e-15	6.44332e-15	1	1	0
VPS13B	157680	broad.mit.edu	37	8	100520058	100520058	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr8:100520058C>G	ENST00000358544.2	+	28	4329	c.4218C>G	c.(4216-4218)gaC>gaG	p.D1406E	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Intron	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1406					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCTGTACTGACAAGCTGAACA	0.458000													29	74					0	0	1	0	0
RUNDC3A	10900	broad.mit.edu	37	17	42390486	42390486	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:42390486G>A	ENST00000426726.3	+	3	512	c.238G>A	c.(238-240)Ggt>Agt	p.G80S	RUNDC3A_ENST00000225441.7_Missense_Mutation_p.G80S|AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000590941.1_Splice_Site	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	80	Interaction with RAP2A (By similarity).|RUN.				small GTPase mediated signal transduction		small GTPase regulator activity			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGCCCCAGCAGGTCCAGTGAG	0.592000													6	31					0	0	1	0	0
NPIPA5	100288332	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr16:15457701G>A	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1			nuclear pore complex interacting protein family, member A5									p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562000													5	147					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578236	7578236	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:7578236A>G	ENST00000420246.2	-	6	745	c.613T>C	c.(613-615)Tat>Cat	p.Y205H	TP53_ENST00000445888.2_Missense_Mutation_p.Y205H|TP53_ENST00000269305.4_Missense_Mutation_p.Y205H|TP53_ENST00000455263.2_Missense_Mutation_p.Y205H|TP53_ENST00000413465.2_Missense_Mutation_p.Y205H|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y205H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	205	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y205D(13)|p.0?(8)|p.Y205N(8)|p.?(5)|p.Y205H(5)|p.Y112N(2)|p.Y73N(2)|p.Y205fs*43(1)|p.Y205fs*42(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(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)		TCATCCAAATACTCCACACGC	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)			14	29					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105367371	105367371	+	Silent	SNP	G	G	A	rs150633288		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr8:105367371G>A	ENST00000297581.2	+	3	1345	c.1296G>A	c.(1294-1296)ccG>ccA	p.P432P	DCSTAMP_ENST00000517991.1_Intron|DCSTAMP_ENST00000520080.1_3'UTR|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	432					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											CAAAGCAGCCGCTGGGAGAAG	0.458000													10	57					0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	618782	618782	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr11:618782G>A	ENST00000358353.3	-	14	2099	c.1777C>T	c.(1777-1779)Caa>Taa	p.Q593*	CDHR5_ENST00000349570.7_Intron|CDHR5_ENST00000397542.2_Nonsense_Mutation_p.Q593*			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	593	4 X 31 AA approximate tandem repeats.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GTGGCTGGTTGGTGGGAGGTG	0.662000													6	161					0	0	1	0	0
PCDHGA7	0	broad.mit.edu	37	5	140763942	140763942	+	Silent	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr5:140763942C>T	ENST00000518325.1	+	1	1476	c.1476C>T	c.(1474-1476)gcC>gcT	p.A492A	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCCTTGGCCGAAGACACCA	0.512000													9	28					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47696430	47696430	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:47696430C>G	ENST00000393331.3	-	7	863	c.393G>C	c.(391-393)tgG>tgC	p.W131C	SPOP_ENST00000504102.1_Missense_Mutation_p.W131C|SPOP_ENST00000347630.2_Missense_Mutation_p.W131C|SPOP_ENST00000393328.2_Missense_Mutation_p.W131C|SPOP_ENST00000503676.1_Missense_Mutation_p.W131C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TCTTGAATCCCCAGTCTTTGC	0.453000										Prostate(2;0.17)			35	91					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10491154	10491154	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr3:10491154C>A	ENST00000397077.1	-	4	649	c.74G>T	c.(73-75)gGg>gTg	p.G25V	ATP2B2_ENST00000343816.4_Missense_Mutation_p.G25V|ATP2B2_ENST00000383800.4_Missense_Mutation_p.G25V|ATP2B2_ENST00000352432.4_Missense_Mutation_p.G25V|ATP2B2_ENST00000360273.2_Missense_Mutation_p.G25V			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	25					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CATTGTGCACCCGAACTCGCC	0.577000													15	64					3.27435e-08	3.44669e-08	1	1	0
CYP4F24P	0	broad.mit.edu	37	19	15890693	15890693	+	RNA	SNP	C	C	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr19:15890693C>G	ENST00000587443.2	-	0	104					NR_033864.1																						CTGCCCGAGGCCCAGCCAGGA	0.667000													3	33					0	0	1	0	0
MANBA	4126	broad.mit.edu	37	4	103585858	103585858	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr4:103585858C>G	ENST00000226578.4	-	11	1568	c.1469G>C	c.(1468-1470)aGa>aCa	p.R490T	MANBA_ENST00000505239.1_Missense_Mutation_p.R433T	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	490					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TACGAGCTCTCTGATGTTTTT	0.433000													31	85					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16485072	16485072	+	Translation_Start_Site	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr20:16485072C>T	ENST00000378003.2	-	0	1278				KIF16B_ENST00000354981.2_Missense_Mutation_p.R374H|KIF16B_ENST00000408042.1_Missense_Mutation_p.R374H|KIF16B_ENST00000355755.3_Missense_Mutation_p.R374H			Q96L93	KI16B_HUMAN	kinesin family member 16B						cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCGCAGCTCACGGATAAGTTT	0.408000													31	211					0	0	1	0	0
MYF6	4618	broad.mit.edu	37	12	81101560	81101560	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr12:81101560C>A	ENST00000228641.3	+	1	284	c.62C>A	c.(61-63)aCt>aAt	p.T21N		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	21					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						GAAAATGTTACTCTGCAGCCA	0.522000													23	49					4.4004e-07	4.57185e-07	1	1	0
ACAN	176	broad.mit.edu	37	15	89398503	89398503	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr15:89398503C>A	ENST00000439576.2	+	12	3061	c.2687C>A	c.(2686-2688)tCt>tAt	p.S896Y	ACAN_ENST00000352105.7_Missense_Mutation_p.S896Y|ACAN_ENST00000559004.1_Missense_Mutation_p.S896Y|ACAN_ENST00000561243.1_Missense_Mutation_p.S896Y	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	896					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGACTGCCCTCTGGAGACCTG	0.577000													19	35					3.51602e-12	3.85317e-12	1	1	0
GSDMC	56169	broad.mit.edu	37	8	130789733	130789733	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr8:130789733C>T	ENST00000276708.4	-	2	982	c.101G>A	c.(100-102)cGt>cAt	p.R34H		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	34						mitochondrion		p.R34H(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						AACAAACTGACGTAATTTGGT	0.403000													42	53					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	A	rs28934578		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:7578406C>A	ENST00000420246.2	-	5	656	c.524G>T	c.(523-525)cGc>cTc	p.R175L	TP53_ENST00000445888.2_Missense_Mutation_p.R175L|TP53_ENST00000269305.4_Missense_Mutation_p.R175L|TP53_ENST00000455263.2_Missense_Mutation_p.R175L|TP53_ENST00000413465.2_Missense_Mutation_p.R175L|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			3	58					2.56e-06	2.62564e-06	1	1	0
MRPS21	54460	broad.mit.edu	37	1	150266802	150266802	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:150266802A>C	ENST00000369084.5	+	1	463	c.16A>C	c.(16-18)Aag>Cag	p.K6Q	MRPS21_ENST00000309092.7_Missense_Mutation_p.K6Q			P82921	RT21_HUMAN	mitochondrial ribosomal protein S21	6					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	4	Lung NSC(24;5.57e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAAACATCTGAAGTTCATCGC	0.463000													19	32					0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25600786	25600786	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr6:25600786C>T	ENST00000329474.6	+	33	3732	c.3364C>T	c.(3364-3366)Cgg>Tgg	p.R1122W		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1122					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CAATTCTGAACGGATAGAGGA	0.532000													15	33					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70331643	70331643	+	Silent	SNP	C	C	T	rs144792130	byFrequency	TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr11:70331643C>T	ENST00000338508.4	-	32	4757	c.4758G>A	c.(4756-4758)ccG>ccA	p.P1586P	SHANK2_ENST00000423696.2_Silent_p.P1206P|SHANK2_ENST00000449833.2_Silent_p.P990P|SHANK2_ENST00000409161.1_Silent_p.P989P			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1206					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CACTgcccggcgggggcgggg	0.582000													51	45					0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75113620	75113620	+	Missense_Mutation	SNP	C	C	T	rs138539339		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr2:75113620C>T	ENST00000290573.2	+	15	2639	c.2039C>T	c.(2038-2040)aCg>aTg	p.T680M	HK2_ENST00000409174.1_Missense_Mutation_p.T652M	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	680	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TTGGCAGGCACGGGCAGCAAT	0.597000													17	40					0	0	1	0	0
APLP2	334	broad.mit.edu	37	11	129996638	129996638	+	Silent	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr11:129996638C>T	ENST00000263574.5	+	8	1206	c.1134C>T	c.(1132-1134)ttC>ttT	p.F378F	APLP2_ENST00000543137.1_Silent_p.F285F|APLP2_ENST00000539648.1_Silent_p.F166F|APLP2_ENST00000278756.7_Silent_p.F388F|APLP2_ENST00000528499.1_Silent_p.F322F|APLP2_ENST00000345598.5_Silent_p.F149F|APLP2_ENST00000338167.5_Silent_p.F378F	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	378					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		ATGTGTATTTCGAGACCTCTG	0.483000													10	173					0	0	1	0	0
TMEM132C	92293	broad.mit.edu	37	12	128899817	128899817	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr12:128899817C>T	ENST00000435159.2	+	2	626	c.626C>T	c.(625-627)aCg>aTg	p.T209M		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	209						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						AGTGCCCCGACGGTGGGTGCC	0.667000													3	11					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48201459	48201459	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr16:48201459C>T	ENST00000394747.1	-	28	4353	c.4004G>A	c.(4003-4005)cGt>cAt	p.R1335H	ABCC11_ENST00000353782.5_Missense_Mutation_p.R1297H|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1335H|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1335H|ABCC11_ENST00000565329.1_5'UTR	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1335	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AGTGGTGACACGGTGGGCAAT	0.592000													22	38					0	0	1	0	0
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V		NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway	extracellular region		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692000													3	23					0	0	1	0	0
ATAD2B	54454	broad.mit.edu	37	2	23974944	23974944	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr2:23974944G>T	ENST00000238789.5	-	28	4692	c.4349C>A	c.(4348-4350)aCa>aAa	p.T1450K	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1450							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATATGAACTGTTCTTTCCAT	0.348000													2	1					1	1	1	1	0
TBX21	30009	broad.mit.edu	37	17	45821893	45821893	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:45821893C>T	ENST00000177694.1	+	5	1184	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	325					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						CAAAGGATTCCGGGAGAACTT	0.512000													30	64					0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114380493	114380493	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:114380493C>T	ENST00000359785.5	-	13	1664	c.1529G>A	c.(1528-1530)cGt>cAt	p.R510H	PTPN22_ENST00000420377.2_Missense_Mutation_p.R510H|PTPN22_ENST00000538253.1_Missense_Mutation_p.R266H|PTPN22_ENST00000528414.1_Missense_Mutation_p.R455H|PTPN22_ENST00000525799.1_Missense_Mutation_p.R383H|PTPN22_ENST00000460620.1_Intron	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	510					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAGGCATTACGTATTTGGTG	0.368000													34	59					0	0	1	0	0
SPATA6	54558	broad.mit.edu	37	1	48764545	48764545	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:48764545C>G	ENST00000371847.3	-	13	1471	c.1307G>C	c.(1306-1308)gGc>gCc	p.G436A	SPATA6_ENST00000371843.3_Missense_Mutation_p.G420A|SPATA6_ENST00000396199.3_Missense_Mutation_p.G364A	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	436					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						ATGGAAAGTGCCACGTGGCTG	0.388000													32	71					0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8808926	8808926	+	Silent	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr19:8808926G>A	ENST00000324436.3	-	1	246	c.126C>T	c.(124-126)gcC>gcT	p.A42A		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	42			A -> D (in a colorectal cancer sample; somatic mutation).			cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GCAGCCTGTCGGCCACCATGC	0.657000													29	71					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150901599	150901599	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr5:150901599C>G	ENST00000261800.5	-	18	10567	c.10555G>C	c.(10555-10557)Gtc>Ctc	p.V3519L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3519	Cadherin 31.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGACATGGACACGGACAGAC	0.547000													11	16					0	0	1	0	0
MLLT10	8028	broad.mit.edu	37	10	22022944	22022944	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr10:22022944C>T	ENST00000377072.3	+	21	3140	c.2792C>T	c.(2791-2793)gCt>gTt	p.A931V	MLLT10_ENST00000446906.2_Missense_Mutation_p.A915V|MLLT10_ENST00000377059.3_Missense_Mutation_p.A915V|MLLT10_ENST00000307729.7_Missense_Mutation_p.A915V	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	931					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						ATTGTAGGAGCTTTAAATGGG	0.498000			T	"""MLL, PICALM, CDK6"""	AL								19	15					0	0	1	0	0
ZNF526	116115	broad.mit.edu	37	19	42730132	42730132	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr19:42730132G>A	ENST00000301215.3	+	3	1802	c.1577G>A	c.(1576-1578)cGt>cAt	p.R526H		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				ACGGGTGCACGTCCCTACCAA	0.627000													14	36					0	0	1	0	0
GAB2	9846	broad.mit.edu	37	11	77961363	77961363	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr11:77961363G>A	ENST00000361507.4	-	3	545	c.460C>T	c.(460-462)Cga>Tga	p.R154*	GAB2_ENST00000526030.1_Intron|GAB2_ENST00000340149.2_Nonsense_Mutation_p.R116*	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	154					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TTGCGCTCTCGGAGAAGGTGC	0.567000													31	50					0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824345	54824345	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr20:54824345C>T	ENST00000243911.2	+	1	558	c.446C>T	c.(445-447)gCg>gTg	p.A149V		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	186					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			ATCTTTTACGCGCTCCGCTAC	0.582000													43	102					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10312737	10312737	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:10312737C>A	ENST00000403437.2	-	16	1850	c.1756G>T	c.(1756-1758)Gct>Tct	p.A586S	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	586	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ACAGTGCCAGCATAGTGAATC	0.512000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				32	82					3.11337e-16	3.55814e-16	1	1	0
PFKFB2	5208	broad.mit.edu	37	1	207245685	207245685	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:207245685G>C	ENST00000367080.3	+	15	1611	c.1487G>C	c.(1486-1488)cGt>cCt	p.R496P	PFKFB2_ENST00000545806.1_Missense_Mutation_p.R463P|PFKFB2_ENST00000411990.2_Intron|PFKFB2_ENST00000367079.2_Intron|PFKFB2_ENST00000473310.1_Intron|PFKFB2_ENST00000541914.1_Intron	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	496	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					AGCCCTCTCCGTGCCCAGGAC	0.572000													3	55					0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458221	248458221	+	Silent	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:248458221G>A	ENST00000317996.1	-	1	659	c.660C>T	c.(658-660)ctC>ctT	p.L220L		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GAACAGCAGCGAGGATGAGAC	0.532000													37	61					0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50669556	50669556	+	Silent	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr10:50669556G>A	ENST00000355832.5	-	19	3903	c.3825C>T	c.(3823-3825)gcC>gcT	p.A1275A	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000465653.1_5'UTR|ERCC6_ENST00000542458.1_Silent_p.A645A	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1275					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AATCTGGGCTGGCTCCATCCA	0.512000								Direct reversal of damage;Nucleotide excision repair (NER)					10	15					0	0	1	0	0
TGFBR3	7049	broad.mit.edu	37	1	92182170	92182170	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:92182170C>T	ENST00000212355.4	-	11	2127	c.1662G>A	c.(1660-1662)atG>atA	p.M554I	TGFBR3_ENST00000525962.1_Missense_Mutation_p.M554I|TGFBR3_ENST00000370399.2_Missense_Mutation_p.M553I	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	554	ZP.				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CTCCTTCATCCATATCTCCCG	0.463000													4	212					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578534	7578534	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:7578534C>G	ENST00000420246.2	-	5	528	c.396G>C	c.(394-396)aaG>aaC	p.K132N	TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000269305.4_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N|TP53_ENST00000413465.2_Missense_Mutation_p.K132N|TP53_ENST00000359597.4_Missense_Mutation_p.K132N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	132	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (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.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(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)		GGCAAAACATCTTGTTGAGGG	0.562000		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)			12	17					0	0	1	0	0
LENG9	94059	broad.mit.edu	37	19	54974077	54974077	+	Silent	SNP	C	C	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr19:54974077C>A	ENST00000333834.4	-	1	817	c.699G>T	c.(697-699)ctG>ctT	p.L233L		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	233					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		GGGCCGCCTCCAGCTCTCCGG	0.682000													16	55					2.35188e-11	2.54257e-11	1	1	0
NRD1	4898	broad.mit.edu	37	1	52258075	52258075	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:52258075C>G	ENST00000354831.7	-	27	3190	c.3001G>C	c.(3001-3003)Gaa>Caa	p.E1001Q	NRD1_ENST00000539524.1_Missense_Mutation_p.E869Q|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Missense_Mutation_p.E933Q	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	932					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AGCGTATATTCTCTTAGACTC	0.473000													37	60					0	0	1	0	0
CDYL2	124359	broad.mit.edu	37	16	80718705	80718705	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr16:80718705G>T	ENST00000299564.8	-	2	501	c.346C>A	c.(346-348)Cca>Aca	p.P116T	CDYL2_ENST00000563890.1_Missense_Mutation_p.P116T|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000562812.1_Missense_Mutation_p.P116T|CDYL2_ENST00000566173.1_Missense_Mutation_p.P116T	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	116						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CCTTTTTTTGGCTTGGCCAGG	0.542000													20	39					3.51602e-12	3.85317e-12	1	1	0
MCM3AP	8888	broad.mit.edu	37	21	47660915	47660915	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr21:47660915A>G	ENST00000397708.1	-	27	5697	c.5443T>C	c.(5443-5445)Ttt>Ctt	p.F1815L	MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.F1815L|MCM3AP-AS1_ENST00000432735.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1815					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GAAGGATGAAAAGGCTTTATT	0.403000													5	114					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24197031	24197031	+	Silent	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr8:24197031G>A	ENST00000265769.4	+	15	1730	c.1620G>A	c.(1618-1620)aaG>aaA	p.K540K	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Silent_p.K287K|RP11-624C23.1_ENST00000523700.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	540	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GTGGGTCAAAGTACGGGTACT	0.458000													6	13					0	0	1	0	0
C16orf80	29105	broad.mit.edu	37	16	58149206	58149206	+	Silent	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr16:58149206G>A	ENST00000262498.3	-	4	766	c.432C>T	c.(430-432)taC>taT	p.Y144Y	C16orf80_ENST00000562443.1_5'UTR	NM_013242.2	NP_037374.1	Q9Y6A4	CP080_HUMAN	chromosome 16 open reading frame 80	144					multicellular organismal development					kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						AATTGGTGCCGTATGCTCGCC	0.552000													4	102					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35144467	35144467	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr21:35144467G>A	ENST00000381318.3	+	12	1433	c.1145G>A	c.(1144-1146)cGc>cAc	p.R382H	ITSN1_ENST00000381285.4_Missense_Mutation_p.R382H|ITSN1_ENST00000381291.4_Missense_Mutation_p.R382H|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Missense_Mutation_p.R382H|ITSN1_ENST00000399352.1_Missense_Mutation_p.R382H|ITSN1_ENST00000399355.2_Missense_Mutation_p.R382H|ITSN1_ENST00000399326.3_Missense_Mutation_p.R382H|ITSN1_ENST00000399338.4_Missense_Mutation_p.R382H|ITSN1_ENST00000488166.1_3'UTR|ITSN1_ENST00000437442.2_Missense_Mutation_p.R382H|ITSN1_ENST00000399367.3_Missense_Mutation_p.R382H|ITSN1_ENST00000379960.5_Missense_Mutation_p.R382H|ITSN1_ENST00000399353.1_Missense_Mutation_p.R345H	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	382	KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	p.R382H(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GAGCAGGAGCGCCTGGCCCAG	0.572000													13	30					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53769491	53769491	+	Silent	SNP	C	C	T	rs148699423		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr3:53769491C>T	ENST00000288139.3	+	21	2890	c.2772C>T	c.(2770-2772)gcC>gcT	p.A924A	CACNA1D_ENST00000350061.5_Silent_p.A904A|CACNA1D_ENST00000422281.2_Silent_p.A904A	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	904					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)	CTGCCCTGGCCGCAGAGGACC	0.627000													37	63					0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56258392	56258392	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr11:56258392G>A	ENST00000327216.2	-	1	479	c.455C>T	c.(454-456)gCg>gTg	p.A152V		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A152V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GCCAGTGAGCGCTCCATACAC	0.512000													12	36					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34647757	34647757	+	Silent	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr15:34647757C>T	ENST00000537011.1	+	8	1930	c.1548C>T	c.(1546-1548)ggC>ggT	p.G516G	NUTM1_ENST00000438749.3_Silent_p.G506G|NUTM1_ENST00000333756.4_Silent_p.G488G					NUT midline carcinoma, family member 1																		GTTTCAGTGGCGCTCAGTTGG	0.557000													28	27					0	0	1	0	0
ANKRD55	79722	broad.mit.edu	37	5	55472076	55472076	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr5:55472076C>T	ENST00000341048.4	-	4	366	c.215G>A	c.(214-216)cGt>cAt	p.R72H	ANKRD55_ENST00000504958.2_Missense_Mutation_p.R72H|ANKRD55_ENST00000513241.2_Missense_Mutation_p.R43H	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	71										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GTCCGCTTGACGTCCAGAAAC	0.483000													42	84					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21906265	21906265	+	Missense_Mutation	SNP	A	A	G	rs72658813		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr7:21906265A>G	ENST00000328843.6	+	72	11726	c.11695A>G	c.(11695-11697)Atg>Gtg	p.M3899V	DNAH11_ENST00000409508.3_Missense_Mutation_p.M3892V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3899					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CCCTGACAGAATGACGTATGC	0.408000									Kartagener syndrome				12	31					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55589817	55589817	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr4:55589817C>A	ENST00000288135.5	+	8	1396	c.1299C>A	c.(1297-1299)ttC>ttA	p.F433L		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	433	Ig-like C2-type 5.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGCAGGATTCCCAGAGCCCA	0.458000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				20	38					9.22233e-05	9.33907e-05	1	1	0
SOX30	11063	broad.mit.edu	37	5	157078524	157078524	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr5:157078524G>A	ENST00000265007.6	-	1	904	c.563C>T	c.(562-564)gCg>gTg	p.A188V	SOX30_ENST00000311371.5_Missense_Mutation_p.A188V|SOX30_ENST00000519442.1_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	188					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GACCTCCTCCGCCTCCAGCTT	0.642000													37	71					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125900178	125900178	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr12:125900178C>T	ENST00000299308.3	+	3	1054	c.1046C>T	c.(1045-1047)tCg>tTg	p.S349L		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	349						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACTCAGACGTCGGCCACCCTC	0.602000													21	51					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													3	45					0	0	1	0	0
HMBOX1	79618	broad.mit.edu	37	8	28906544	28906544	+	Silent	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr8:28906544C>T	ENST00000397358.3	+	10	1808	c.1104C>T	c.(1102-1104)gaC>gaT	p.D368D	HMBOX1_ENST00000523613.1_Silent_p.D368D|HMBOX1_ENST00000287701.10_Silent_p.D368D|HMBOX1_ENST00000558662.1_Silent_p.D367D|HMBOX1_ENST00000517386.1_3'UTR|HMBOX1_ENST00000524238.1_Silent_p.D367D|HMBOX1_ENST00000519047.1_Silent_p.D367D|HMBOX1_ENST00000444075.1_Silent_p.D367D|HMBOX1_ENST00000355231.5_Silent_p.D367D	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	368					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		ATGATGTCGACGGGAATGACT	0.532000													4	105					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369885	56369885	+	Missense_Mutation	SNP	G	G	A	rs149428225		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr19:56369885G>A	ENST00000301295.6	+	3	1548	c.1126G>A	c.(1126-1128)Gtc>Atc	p.V376I	NLRP4_ENST00000346986.5_Missense_Mutation_p.V376I|NLRP4_ENST00000587891.1_Missense_Mutation_p.V301I	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	376	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTCCTCTTTCGTCTTTAACCT	0.577000													16	81					0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16593777	16593777	+	Silent	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:16593777C>T	ENST00000443444.2	+	1	203	c.63C>T	c.(61-63)taC>taT	p.Y21Y	CCDC144A_ENST00000360524.8_Silent_p.Y21Y|CCDC144A_ENST00000340621.5_Silent_p.Y21Y|CCDC144A_ENST00000399273.1_Silent_p.Y21Y|CCDC144A_ENST00000436374.1_3'UTR|RP11-219A15.1_ENST00000448331.3_Silent_p.Y21Y|CCDC144A_ENST00000456009.1_Silent_p.Y21Y			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	21																	CGGCAGTCTACGCCACGAGGA	0.667000													12	24					0	0	1	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58597628	58597628	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr19:58597628G>C	ENST00000240727.6	-	6	1150	c.751C>G	c.(751-753)Cag>Gag	p.Q251E	ZSCAN18_ENST00000421612.2_Missense_Mutation_p.Q116E|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.Q307E|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.Q251E	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	251					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TGGGAAAGCTGATACCCTGAG	0.562000													21	55					0	0	1	0	0
PLOD2	5352	broad.mit.edu	37	3	145796957	145796957	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr3:145796957A>C	ENST00000282903.5	-	13	1623	c.1446T>G	c.(1444-1446)ttT>ttG	p.F482L	RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000360060.3_Missense_Mutation_p.F482L|PLOD2_ENST00000461497.1_Missense_Mutation_p.F142L|PLOD2_ENST00000494950.1_Missense_Mutation_p.F427L	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	482					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TATCACGAACAAAATAGTTCC	0.378000													42	74					0	0	1	0	0
ZNF587B	100293516	broad.mit.edu	37	19	58353211	58353211	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr19:58353211C>T	ENST00000594901.1	+	3	1385	c.1169C>T	c.(1168-1170)tCt>tTt	p.S390F	ZNF587B_ENST00000316462.4_Intron|CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587B_ENST00000442832.4_Intron			B4DR41	B4DR41_HUMAN	zinc finger protein 587B	306					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding										TGTGGGAAATCTTATATTTCA	0.433000													8	20					0	0	1	0	0
ZNF587B	100293516	broad.mit.edu	37	19	58353210	58353210	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr19:58353210T>A	ENST00000594901.1	+	3	1384	c.1168T>A	c.(1168-1170)Tct>Act	p.S390T	ZNF587B_ENST00000316462.4_Intron|CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587B_ENST00000442832.4_Intron			B4DR41	B4DR41_HUMAN	zinc finger protein 587B	306					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding										ATGTGGGAAATCTTATATTTC	0.433000													8	20					0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117122291	117122291	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:117122291C>G	ENST00000369486.3	-	10	3822	c.3057G>C	c.(3055-3057)gaG>gaC	p.E1019D	IGSF3_ENST00000318837.6_Missense_Mutation_p.E1039D|IGSF3_ENST00000369483.1_Missense_Mutation_p.E1039D	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1019	Ig-like C2-type 8.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		cgtcgtcgtcctcctcctcct	0.637000													4	17					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179591950	179591950	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr2:179591950G>T	ENST00000589042.1	-	69	20366	c.20142C>A	c.(20140-20142)taC>taA	p.Y6714*	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.Y6397*|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y5470*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6397	Ig-like 48.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGTCATTCTGTACTTATCAC	0.458000													14	35					1.5842e-08	1.68981e-08	1	1	0
SPATA6	54558	broad.mit.edu	37	1	48764519	48764519	+	Missense_Mutation	SNP	A	A	G	rs138130686		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:48764519A>G	ENST00000371847.3	-	13	1497	c.1333T>C	c.(1333-1335)Tac>Cac	p.Y445H	SPATA6_ENST00000371843.3_Missense_Mutation_p.Y429H|SPATA6_ENST00000396199.3_Missense_Mutation_p.Y373H	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	445					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TTGGACCAGTATTCACCGTCA	0.413000													31	80					0	0	1	0	0
ZNF587B	100293516	broad.mit.edu	37	19	58353043	58353043	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr19:58353043C>G	ENST00000442832.4	+	3	1235	c.1001C>G	c.(1000-1002)tCt>tGt	p.S334C	ZNF587B_ENST00000594901.1_Missense_Mutation_p.S334C|ZNF587B_ENST00000316462.4_Intron|CTD-2583A14.10_ENST00000598031.1_Intron	NM_001204818.1	NP_001191747.1	B4DR41	B4DR41_HUMAN	zinc finger protein 587B	334					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding										TGTGGGAAATCTTTTAGTTCA	0.423000													5	16					0	0	1	0	0
TRIT1	54802	broad.mit.edu	37	1	40315879	40315879	+	Silent	SNP	A	A	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:40315879A>G	ENST00000316891.5	-	5	629	c.615T>C	c.(613-615)cgT>cgC	p.R205R	TRIT1_ENST00000372818.1_Silent_p.R205R|TRIT1_ENST00000545233.1_5'UTR|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537440.1_5'UTR|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000441669.2_Silent_p.R125R	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	205					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CCGTATGTTGACGATGGAGAA	0.473000													18	32					0	0	1	0	0
SCARA5	286133	broad.mit.edu	37	8	27779582	27779582	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr8:27779582G>A	ENST00000354914.3	-	4	907	c.422C>T	c.(421-423)gCg>gTg	p.A141V	SCARA5_ENST00000301906.4_Missense_Mutation_p.A98V|SCARA5_ENST00000524352.1_Missense_Mutation_p.A141V|SCARA5_ENST00000518030.1_Missense_Mutation_p.A98V|SCARA5_ENST00000380385.2_Intron	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	141					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GCCCGCCAGCGCCAGCAACGA	0.721000													3	4					0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61566030	61566030	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:61566030C>T	ENST00000577647.1	+	5	650	c.605C>T	c.(604-606)aCg>aTg	p.T202M	ACE_ENST00000490216.2_Missense_Mutation_p.T202M|ACE_ENST00000421982.2_Missense_Mutation_p.T86M|ACE_ENST00000290866.4_Missense_Mutation_p.T776M|ACE_ENST00000413513.3_Missense_Mutation_p.T202M|ACE_ENST00000428043.1_Missense_Mutation_p.T776M|ACE_ENST00000290863.6_Missense_Mutation_p.T202M			P12821	ACE_HUMAN	angiotensin I converting enzyme	776	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GTGATGGCCACGTCCCGGAAA	0.537000													34	56					0	0	1	0	0
AKR7L	246181	broad.mit.edu	37	1	19596152	19596152	+	RNA	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:19596152G>A	ENST00000420396.2	-	0	507				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						TCCACCTGCCGGGTGGTGGCG	0.562000													3	43					0	0	1	0	0
RP11-404F10.2	0	broad.mit.edu	37	1	160640798	160640798	+	RNA	DEL	T	T	-			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:160640798delT	ENST00000598917.1	+	0	231																											TTCTGAACAATTTTTTTTTTA	0.428													2	4	---	---	---	---					
CACNB4	785	broad.mit.edu	37	2	152955496	152955496	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr2:152955496delC	ENST00000539935.1	-	1	97	c.30delG	c.(28-30)ggfs	p.G10fs	CACNB4_ENST00000201943.5_Frame_Shift_Del_p.G10fs|AC079790.2_ENST00000420365.1_RNA	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	10					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	CGTCCGCGGTCCCGTTCTTGG	0.716													2	4	---	---	---	---					
EIF4G1	1981	broad.mit.edu	37	3	184039744	184039746	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr3:184039744_184039746delGAA	ENST00000342981.4	+	9	1786_1788	c.1372_1374delGAA	c.(1372-1374)del	p.E465del	EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000346169.2_In_Frame_Del_p.E465del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	465	Poly-Glu.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAGGAAATGgaagaagaagaag	0.562													7	302	---	---	---	---					
DCHS2	54798	broad.mit.edu	37	4	155157357	155157360	+	Frame_Shift_Del	DEL	TGAG	TGAG	-			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr4:155157357_155157360delTGAG	ENST00000357232.3	-	25	7078_7081	c.7079_7082delCTCA	c.(7078-7083)atfs	p.TH2360fs		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2360	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGACATTCCATGAGTGAGAAAACA	0.392													17	91	---	---	---	---					
ZNF608	57507	broad.mit.edu	37	5	123980270	123980273	+	Frame_Shift_Del	DEL	TCTC	TCTC	-			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr5:123980270_123980273delTCTC	ENST00000306315.5	-	5	4222_4225	c.3787_3790delGAGA	c.(3787-3792)agfs	p.EK1263fs	ZNF608_ENST00000504926.1_Frame_Shift_Del_p.EK836fs	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1263						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTTAATTTCTTCTCTCTATCAAGT	0.387													37	71	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100388502	100388502	+	RNA	DEL	A	A	-	rs5886138		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr7:100388502delA	ENST00000542585.1	+	0	7502				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			aagactgtctaaaaaaaaaaa	0.522													3	5	---	---	---	---					
ST6GALNAC6	30815	broad.mit.edu	37	9	130648958	130648960	+	In_Frame_Del	DEL	GGT	GGT	-	rs144896495		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr9:130648958_130648960delGGT	ENST00000373146.1	-	7	1099_1101	c.920_922delACC	c.(919-924)cgc>c	p.HR307del	RP11-203J24.9_ENST00000476274.2_RNA|ST6GALNAC6_ENST00000291839.5_In_Frame_Del_p.HR307del|ST6GALNAC6_ENST00000373141.1_In_Frame_Del_p.HR273del|ST6GALNAC6_ENST00000373142.1_In_Frame_Del_p.T306del|ST6GALNAC6_ENST00000373144.3_In_Frame_Del_p.HR273del|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000542456.1_In_Frame_Del_p.HR107del			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	307					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTGATGAAGCGGTGGTGGTTGCC	0.616													17	53	---	---	---	---					
SPRY2	10253	broad.mit.edu	37	13	80910949	80910952	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr13:80910949_80910952delTGTT	ENST00000377102.1	-	2	1866_1869	c.889_892delAACA	c.(889-894)cafs	p.NT297fs	SPRY2_ENST00000540649.1_Frame_Shift_Del_p.NT297fs|SPRY2_ENST00000377104.3_Frame_Shift_Del_p.NT297fs			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	297	Cys-rich.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		CAGCAAACTGTGTTTGAGTTTTTA	0.436													10	18	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74372914	74372914	+	RNA	DEL	G	G	-	rs67181940		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr16:74372914delG	ENST00000429810.2	-	0	1404																											AACGTAGtttgtttttttttt	0.433													3	6	---	---	---	---					
AC008984.2	0	broad.mit.edu	37	19	54843564	54843565	+	RNA	INS	-	-	C	rs144647366	by1000genomes	TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr19:54843564_54843565insC	ENST00000507363.1	-	0	430																											CGGCTGCTCCTCCCCAGGCTGC	0.723													2	4	---	---	---	---					
MMP24	10893	broad.mit.edu	37	20	33855200	33855200	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr20:33855200delG	ENST00000246186.6	+	6	1257	c.1172delG	c.(1171-1173)cgfs	p.R391fs	EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000453892.1_RNA|MMP24-AS1_ENST00000566203.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	391	Hemopexin-like 1.				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCCCTCTTCCGGGGCGAGATG	0.632													2	4	---	---	---	---