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
DGCR5	26220	broad.mit.edu	37	22	19002009	19002009	+	RNA	SNP	G	G	T	rs56157180	by1000genomes	TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr22:19002009G>T	ENST00000440005.2	+	0	828				DGCR5_ENST00000424407.1_RNA																							ACAAATCCAAGATTAGCACAG	0.458000													3	33					0.115264	0.115264	1	1	0
LTBP2	4053	broad.mit.edu	37	14	74970709	74970709	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr14:74970709C>T	ENST00000261978.4	-	31	4888	c.4502G>A	c.(4501-4503)cGg>cAg	p.R1501Q	LTBP2_ENST00000556690.1_Missense_Mutation_p.R1457Q	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1501	EGF-like 17; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GTTGAGGCACCGGCCGTTCGG	0.572000													8	41					0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909002	123909002	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr11:123909002G>T	ENST00000330487.5	-	1	715	c.707C>A	c.(706-708)gCc>gAc	p.A236D		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GGTCTGAAAGGCTCTGTGCCT	0.582000													16	124					3.41278e-10	3.77202e-10	1	1	0
RGAG1	57529	broad.mit.edu	37	X	109694677	109694677	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chrX:109694677T>C	ENST00000465301.2	+	3	1078	c.832T>C	c.(832-834)Tct>Cct	p.S278P	RGAG1_ENST00000540313.1_Missense_Mutation_p.S278P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	278										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AGCTGTAGCTTCTGGAGGTAC	0.483000													56	182					0	0	1	0	0
RHOXF1	158800	broad.mit.edu	37	X	119249757	119249757	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chrX:119249757C>T	ENST00000217999.2	-	1	90	c.16G>A	c.(16-18)Gtc>Atc	p.V6I	RP4-755D9.1_ENST00000553843.1_RNA	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	6					gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						GTGTCGTGGACGAGCGAACGC	0.597000													20	66					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137727136	137727136	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr5:137727136C>G	ENST00000314358.5	+	8	2015	c.1815C>G	c.(1813-1815)ttC>ttG	p.F605L	KDM3B_ENST00000394866.1_Missense_Mutation_p.F261L|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	605					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CTCCAGCCTTCCCACGGAGCC	0.537000													37	125					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54872458	54872458	+	Silent	SNP	C	C	T			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr2:54872458C>T	ENST00000333896.5	+	20	4708	c.4323C>T	c.(4321-4323)gaC>gaT	p.D1441D	SPTBN1_ENST00000356805.4_Silent_p.D1454D	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1454					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGAGCACCGACGAGGTAGACA	0.567000													36	160					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	by1000genomes	TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr17:45128742T>G	ENST00000575173.1	-	0	418																											TAATGATTTTTATTATACTTT	0.328000													6	77					0	0	1	0	0
MROH9	80133	broad.mit.edu	37	1	170931113	170931113	+	Nonsense_Mutation	SNP	T	T	G			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr1:170931113T>G	ENST00000367759.4	+	6	525	c.371T>G	c.(370-372)tTa>tGa	p.L124*	MROH9_ENST00000367758.3_Nonsense_Mutation_p.L124*	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		CTACAGATCTTAAAGGTAAAG	0.303000													6	17					0	0	1	0	0
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	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	27					0	0	1	0	0
FGF7	2252	broad.mit.edu	37	15	49716711	49716711	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr15:49716711A>G	ENST00000267843.4	+	2	828	c.217A>G	c.(217-219)Aca>Gca	p.T73A	FGF7_ENST00000560270.1_Missense_Mutation_p.T73A|FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	73					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	CTTCTGTCGAACACAGTGGTA	0.408000													16	69					0	0	1	0	0
FAR2	55711	broad.mit.edu	37	12	29462141	29462141	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr12:29462141G>T	ENST00000182377.4	+	6	1014	c.746G>T	c.(745-747)gGa>gTa	p.G249V	FAR2_ENST00000536681.2_Missense_Mutation_p.G249V|FAR2_ENST00000547116.1_Missense_Mutation_p.G152V|RP11-996F15.2_ENST00000553105.1_RNA	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	249					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						AATATAAATGGACCTAATGGA	0.313000													15	332					2.32078e-09	2.47813e-09	1	1	0
CNTNAP2	26047	broad.mit.edu	37	7	146536853	146536853	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr7:146536853G>T	ENST00000361727.3	+	3	775	c.259G>T	c.(259-261)Gtt>Ttt	p.V87F		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	87	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATGGCTTCAGGTTGACTTTGG	0.478000										HNSCC(39;0.1)			18	97					6.94344e-10	7.54202e-10	1	1	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Silent_p.S415S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	72					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2602399	2602399	+	Silent	SNP	G	G	A			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr12:2602399G>A	ENST00000399655.1	+	7	1225	c.960G>A	c.(958-960)acG>acA	p.T320T	CACNA1C_ENST00000399649.1_Silent_p.T320T|CACNA1C_ENST00000399637.1_Silent_p.T320T|CACNA1C_ENST00000399638.1_Silent_p.T320T|CACNA1C_ENST00000399603.1_Silent_p.T320T|CACNA1C_ENST00000399617.1_Silent_p.T320T|CACNA1C_ENST00000347598.4_Silent_p.T320T|CACNA1C_ENST00000399595.1_Silent_p.T320T|CACNA1C_ENST00000399634.1_Silent_p.T320T|CACNA1C_ENST00000399601.1_Silent_p.T320T|CACNA1C_ENST00000335762.5_Silent_p.T320T|CACNA1C_ENST00000406454.3_Silent_p.T320T|CACNA1C_ENST00000399621.1_Silent_p.T320T|CACNA1C_ENST00000399644.1_Silent_p.T320T|CACNA1C_ENST00000399597.1_Silent_p.T320T|CACNA1C_ENST00000402845.3_Silent_p.T320T|CACNA1C_ENST00000344100.3_Silent_p.T320T|CACNA1C_ENST00000327702.7_Silent_p.T320T|CACNA1C_ENST00000399641.1_Silent_p.T320T|CACNA1C_ENST00000480911.1_Silent_p.T320T|CACNA1C_ENST00000399606.1_Silent_p.T320T|CACNA1C_ENST00000399629.1_Silent_p.T320T|CACNA1C_ENST00000399591.1_Silent_p.T320T	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	320					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CGCTGGAAACGGGCCACGGGC	0.607000													36	74					0	0	1	0	0
GABRA5	2558	broad.mit.edu	37	15	27126073	27126073	+	Missense_Mutation	SNP	T	T	G			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr15:27126073T>G	ENST00000335625.5	+	4	1055	c.167T>G	c.(166-168)cTc>cGc	p.L56R	GABRA5_ENST00000400081.3_Missense_Mutation_p.L56R|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Missense_Mutation_p.L56R|GABRA5_ENST00000557449.1_3'UTR	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	56					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTGGATGGGCTCTTGGATGGC	0.498000													12	30					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121477963	121477963	+	Silent	SNP	C	C	T			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr11:121477963C>T	ENST00000260197.7	+	37	5259	c.5130C>T	c.(5128-5130)atC>atT	p.I1710I	SORL1_ENST00000534286.1_Silent_p.I620I|SORL1_ENST00000525532.1_Silent_p.I654I|SORL1_ENST00000527934.1_Silent_p.I325I|SORL1_ENST00000532694.1_Silent_p.I556I	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1710	Fibronectin type-III 2.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTACAGAAATCAAGAACTTAT	0.443000													7	35					0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28884820	28884820	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr10:28884820A>G	ENST00000375664.3	+	7	1243	c.634A>G	c.(634-636)Act>Gct	p.T212A	WAC_ENST00000428935.1_Missense_Mutation_p.T212A|WAC_ENST00000347934.4_Intron|WAC_ENST00000354911.4_Missense_Mutation_p.T257A|WAC_ENST00000375646.1_Intron			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	257					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						GGTTCATCCAACTGCTACCCC	0.453000													42	114					0	0	1	0	0
ZNF524	147807	broad.mit.edu	37	19	56114231	56114231	+	Silent	SNP	C	C	T			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr19:56114231C>T	ENST00000591046.1	+	1	987	c.753C>T	c.(751-753)gcC>gcT	p.A251A	ZNF524_ENST00000301073.3_Silent_p.A251A			Q96C55	ZN524_HUMAN	zinc finger protein 524	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CAGCAGGGGCCGAGGAGGAGG	0.687000													5	15					0	0	1	0	0
DLL1	28514	broad.mit.edu	37	6	170592399	170592399	+	Silent	SNP	G	G	A	rs144070852		TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr6:170592399G>A	ENST00000366756.3	-	9	2301	c.1968C>T	c.(1966-1968)gaC>gaT	p.D656D		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	656					cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TGCTGTGCGCGTCCCTGACGG	0.677000													19	45					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43612164	43612164	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr10:43612164G>A	ENST00000355710.3	+	12	2501	c.2269G>A	c.(2269-2271)Gtg>Atg	p.V757M	RET_ENST00000340058.5_Missense_Mutation_p.V757M	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	757	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CACGGTGGCCGTGAAGATGCT	0.612000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				22	213					0	0	1	0	0
DPEP2	64174	broad.mit.edu	37	16	68021789	68021789	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr16:68021789C>A	ENST00000412757.2	-	11	1837	c.1172G>T	c.(1171-1173)gGa>gTa	p.G391V	DPEP2_ENST00000393847.1_Missense_Mutation_p.G391V|DPEP2_ENST00000572888.1_Missense_Mutation_p.G391V			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	391					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CAGCAGGTTTCCACGAAGGAC	0.562000													58	191					1.80625e-27	2.1073e-27	1	1	0
KIAA0319L	79932	broad.mit.edu	37	1	35926030	35926030	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr1:35926030C>A	ENST00000325722.3	-	9	1537	c.1303G>T	c.(1303-1305)Gat>Tat	p.D435Y	KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	435	PKD 2.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTATCATCATCAGTGCTTTCT	0.378000													24	85					2.21704e-12	2.49416e-12	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141819775	141819775	+	Nonsense_Mutation	SNP	G	G	A			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr2:141819775G>A	ENST00000389484.3	-	8	2052	c.1081C>T	c.(1081-1083)Cga>Tga	p.R361*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	361					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCCTTGTTCGGTTCATCCCA	0.413000										TSP Lung(27;0.18)			18	77					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118222522	118222522	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chrX:118222522C>G	ENST00000402510.2	-	11	2670	c.2671G>C	c.(2671-2673)Gtc>Ctc	p.V891L		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	891										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GCAGAGGAGACTTCTTGTTGG	0.468000													10	41					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	70					0	0	1	0	0
STAT2	6773	broad.mit.edu	37	12	56737294	56737294	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr12:56737294A>G	ENST00000314128.4	-	24	2458	c.2435T>C	c.(2434-2436)aTt>aCt	p.I812T	STAT2_ENST00000557235.1_Missense_Mutation_p.I808T|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	812					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GATTTCTTCAATCTTTACACA	0.522000													18	43					0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41820167	41820167	+	Missense_Mutation	SNP	T	T	G			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr15:41820167T>G	ENST00000304330.4	-	11	1435	c.1319A>C	c.(1318-1320)gAt>gCt	p.D440A	RPAP1_ENST00000561603.1_Missense_Mutation_p.D440A	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	440						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GAAACCAGCATCCAAAAGGAG	0.567000													7	39					0	0	1	0	0
SEPT9	10801	broad.mit.edu	37	17	75493407	75493407	+	Silent	SNP	C	C	T			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr17:75493407C>T	ENST00000329047.8	+	10	2342	c.1530C>T	c.(1528-1530)acC>acT	p.T510T	SEPT9_ENST00000427180.1_Silent_p.T416T|SEPT9_ENST00000427674.2_Silent_p.T364T|SEPT9_ENST00000585930.1_Silent_p.T304T|SEPT9_ENST00000449803.2_Silent_p.T364T|SEPT9_ENST00000431235.2_Silent_p.T364T|SEPT9_ENST00000591198.1_Silent_p.T509T|SEPT9_ENST00000423034.2_Silent_p.T521T|SEPT9_ENST00000427177.1_Silent_p.T528T|SEPT9_ENST00000588690.1_Silent_p.T364T|SEPT9_ENST00000591088.1_Silent_p.T277T|SEPT9_ENST00000592951.1_Silent_p.T277T|SEPT9_ENST00000541152.2_Silent_p.T277T|SEPT9_ENST00000590294.1_Silent_p.T510T	NM_006640.4	NP_006631.2	Q9UHD8	SEPT9_HUMAN	septin 9	528					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			TTGAAAACACCACACACTGTG	0.587000													3	35					0	0	1	0	0
BCAP29	55973	broad.mit.edu	37	7	107236322	107236322	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr7:107236322C>T	ENST00000379119.2	+	4	369	c.355C>T	c.(355-357)Cgt>Tgt	p.R119C	BCAP29_ENST00000005259.4_Missense_Mutation_p.R119C|BCAP29_ENST00000445771.2_Missense_Mutation_p.R119C|BCAP29_ENST00000379117.2_Missense_Mutation_p.R119C|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000379121.2_Missense_Mutation_p.R25C|BCAP29_ENST00000465919.1_Missense_Mutation_p.R25C	NM_001008405.2	NP_001008405.1	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	119					apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						AGTTTTGAGACGTCTGGTTAC	0.333000													8	83					0	0	1	0	0
TNFAIP6	7130	broad.mit.edu	37	2	152235965	152235965	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr2:152235965C>A	ENST00000243347.3	+	6	827	c.752C>A	c.(751-753)tCc>tAc	p.S251Y		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	251					cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		GATCCTGTATCCAAATCCAGT	0.353000													22	94					1.55469e-16	1.78083e-16	1	1	0
ATM	472	broad.mit.edu	37	11	108160412	108160412	+	Missense_Mutation	SNP	A	A	C			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr11:108160412A>C	ENST00000278616.4	+	29	4705	c.4320A>C	c.(4318-4320)aaA>aaC	p.K1440N	ATM_ENST00000452508.2_Missense_Mutation_p.K1440N	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1440					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GAATTCTTAAAATATATCACC	0.323000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			12	28					0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65678309	65678309	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr15:65678309C>T	ENST00000352385.2	-	18	3249	c.3040G>A	c.(3040-3042)Gct>Act	p.A1014T		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1014						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TCATGGGCAGCTGGGGGGCTG	0.672000											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	22					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578268	7578268	+	Missense_Mutation	SNP	A	A	C			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr17:7578268A>C	ENST00000420246.2	-	6	713	c.581T>G	c.(580-582)cTt>cGt	p.L194R	TP53_ENST00000455263.2_Missense_Mutation_p.L194R|TP53_ENST00000445888.2_Missense_Mutation_p.L194R|TP53_ENST00000413465.2_Missense_Mutation_p.L194R|TP53_ENST00000269305.4_Missense_Mutation_p.L194R|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.L194R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	194	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (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.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.I195fs*52(1)|p.H193_I195>AP(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)		CACTCGGATAAGATGCTGAGG	0.552000		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)			28	38					0	0	1	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													6	84					0	0	1	0	0
NPEPPS	9520	broad.mit.edu	37	17	45689930	45689930	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr17:45689930G>T	ENST00000322157.4	+	18	2437	c.2200G>T	c.(2200-2202)Gaa>Taa	p.E734*	NPEPPS_ENST00000544660.1_Nonsense_Mutation_p.E654*|NPEPPS_ENST00000530173.1_Nonsense_Mutation_p.E730*|RP11-580I16.2_ENST00000582389.1_RNA|RP11-580I16.2_ENST00000582066.1_RNA	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	734					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						GGACCACGTGGAAGGAAAACA	0.458000													16	68					4.7546e-09	4.99233e-09	1	1	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	42					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10469745	10469745	+	Silent	SNP	C	C	T			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr8:10469745C>T	ENST00000382483.3	-	4	2086	c.1863G>A	c.(1861-1863)tcG>tcA	p.S621S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	621					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGGCTCCTTCCGAGTCCCAGG	0.647000													7	122					0	0	1	0	0
ZNF718	255403	broad.mit.edu	37	4	124474	124474	+	RNA	SNP	C	C	T			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr4:124474C>T	ENST00000510175.1	+	0	55							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		CTGCCACAGCCTCAGCCTCTG	0.582000													36	87					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475432	140475432	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr5:140475432C>A	ENST00000194155.4	+	1	1206	c.1058C>A	c.(1057-1059)aCa>aAa	p.T353K		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		353					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTATGTCGACACTTATCAAT	0.473000													14	53					4.3838e-07	4.52753e-07	1	1	0
ABI3BP	25890	broad.mit.edu	37	3	100645220	100645220	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr3:100645220C>T	ENST00000471714.1	-	2	315	c.206G>A	c.(205-207)gGa>gAa	p.G69E	ABI3BP_ENST00000495063.1_Missense_Mutation_p.G69E|ABI3BP_ENST00000532144.1_5'UTR|ABI3BP_ENST00000284322.5_Missense_Mutation_p.G69E			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	69						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GCTGCCATATCCCAGGAGAAG	0.473000													7	63					0	0	1	0	0
SF3A1	10291	broad.mit.edu	37	22	30741108	30741108	+	Missense_Mutation	SNP	A	A	C			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr22:30741108A>C	ENST00000215793.7	-	4	619	c.465T>G	c.(463-465)gaT>gaG	p.D155E	SF3A1_ENST00000439242.1_Intron	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	155					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TAGAGGGAGGATCAGCAATGA	0.527000													10	126					0	0	1	0	0
LRRC8E	80131	broad.mit.edu	37	19	7965114	7965114	+	Silent	SNP	G	G	A			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr19:7965114G>A	ENST00000539278.1	-	1	3313	c.153C>T	c.(151-153)gcC>gcT	p.A51A	LRRC8E_ENST00000306708.6_Silent_p.G569G																							ACAACGATGGGGCCCGTCTGG	0.652000													11	104					0	0	1	0	0
IQSEC2	23096	broad.mit.edu	37	X	53267381	53267381	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chrX:53267381C>T	ENST00000396435.3	-	12	3423	c.3223G>A	c.(3223-3225)Gac>Aac	p.D1075N	IQSEC2_ENST00000375365.2_Missense_Mutation_p.D870N|IQSEC2_ENST00000375368.5_Missense_Mutation_p.D1065N	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	1065	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TCGCGCAGGTCGGATGTAAAG	0.567000													8	28					0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306592	2306592	+	Missense_Mutation	SNP	T	T	G			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr4:2306592T>G	ENST00000290974.2	-	8	1814	c.1475A>C	c.(1474-1476)gAg>gCg	p.E492A	ZFYVE28_ENST00000511071.1_Missense_Mutation_p.E462A|RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.E422A	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	492					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CGCACCCACCTCCCAGCCGTC	0.652000													17	101					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49690113	49690115	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr3:49690113_49690115delGAG	ENST00000296452.4	+	5	3238_3240	c.3124_3126delGAG	c.(3124-3126)del	p.E1045del		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1045					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGACTCCTCAGAGGAGGAGGAGC	0.675													7	68	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127626488	127626488	+	Frame_Shift_Del	DEL	G	G	-			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr5:127626488delG	ENST00000508053.1	-	56	7355	c.6381delC	c.(6379-6381)tgfs	p.C2128fs	FBN2_ENST00000262464.4_Frame_Shift_Del_p.C2128fs			P35556	FBN2_HUMAN	fibrillin 2	2128	TB 8.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCTTACTACAGCAGCATTTTG	0.453													21	102	---	---	---	---					
SMIM3	85027	broad.mit.edu	37	5	150158297	150158297	+	Frame_Shift_Del	DEL	G	G	-			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr5:150158297delG	ENST00000600109.1	+	1	431	c.166delG	c.(166-168)ggfs	p.G58fs	SMIM3_ENST00000526627.1_5'UTR																							CGGGCGTTCCGGGGGCGGTCC	0.741													2	4	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr6:31939829_31939830insA	ENST00000375331.2	+	1	222_223	c.56_57insA	c.(55-57)gaafs	p.E19fs	DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000375349.3_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	19						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													7	222	---	---	---	---					
SP8	221833	broad.mit.edu	37	7	20824941	20824943	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr7:20824941_20824943delGCC	ENST00000361443.4	-	3	676_678	c.439_441delGGC	c.(439-441)del	p.G147del	SP8_ENST00000418710.2_In_Frame_Del_p.G165del	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G165delG(1)|p.G147delG(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GCGCGGAGGAgccgccgccgccg	0.729													7	3	---	---	---	---					
STAG3L2	442582	broad.mit.edu	37	7	74300804	74300804	+	RNA	DEL	A	A	-			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr7:74300804delA	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CTTCATACTTAAAAAAAAAAA	0.458													2	4	---	---	---	---					
CNBD1	168975	broad.mit.edu	37	8	88363986	88363988	+	In_Frame_Del	DEL	TAT	TAT	-			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr8:88363986_88363988delTAT	ENST00000518476.1	+	9	1167_1169	c.1116_1118delTAT	c.(1114-1119)agt>ag	p.SI372del		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	372										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TTTATAGAAGTATTATAGGATTT	0.286													8	4	---	---	---	---					
NLRP14	338323	broad.mit.edu	37	11	7064712	7064713	+	Frame_Shift_Ins	INS	-	-	T			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr11:7064712_7064713insT	ENST00000299481.4	+	4	1801_1802	c.1455_1456insT	c.(1453-1458)gattttfs	p.DF485fs		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	485	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ATGTTCAGGAGTTTTTTGCAGC	0.406													21	126	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539		TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110																											AGTTCATCTTCTCAGAGCTGCTG	0.576													5	4	---	---	---	---					
ZNF431	170959	broad.mit.edu	37	19	21365800	21365801	+	Frame_Shift_Ins	INS	-	-	A			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr19:21365800_21365801insA	ENST00000311048.7	+	5	838_839	c.694_695insA	c.(694-696)ccafs	p.P232fs	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AGAGAATTCTTACCAATGTGAA	0.332													30	62	---	---	---	---					
SCAF1	58506	broad.mit.edu	37	19	50155916	50155918	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr19:50155916_50155918delCCT	ENST00000360565.3	+	7	2394_2396	c.2270_2272delCCT	c.(2269-2274)gcc>g	p.AS757del		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	757	Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TCGGGGGCCGCCTCCTCCTCCTC	0.690													2	4	---	---	---	---					
CPNE1	8904	broad.mit.edu	37	20	34214249	34214249	+	Frame_Shift_Del	DEL	C	C	-			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chr20:34214249delC	ENST00000317619.3	-	18	1922	c.1528delG	c.(1528-1530)tcfs	p.V510fs	CPNE1_ENST00000397442.1_Frame_Shift_Del_p.V454fs|CPNE1_ENST00000397443.1_Frame_Shift_Del_p.V510fs|CPNE1_ENST00000397446.1_Frame_Shift_Del_p.V510fs|CPNE1_ENST00000352393.4_Frame_Shift_Del_p.V510fs|CPNE1_ENST00000317677.5_Frame_Shift_Del_p.V515fs|CPNE1_ENST00000397445.1_Frame_Shift_Del_p.V510fs			Q99829	CPNE1_HUMAN	copine I	510					lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			AAGTATGAGACCAGTTGTGTG	0.632													22	319	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44928995	44928996	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-62-A46Y-01A-11D-A24D-08	TCGA-62-A46Y-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f09e48-5e39-4d97-bceb-9f7efe5bc91e	dc948bc3-07da-4378-861b-e7e3a5781df4	g.chrX:44928995_44928996delCT	ENST00000377967.4	+	17	2136_2137	c.2095_2096delCT	c.(2095-2097)cfs	p.L699fs	KDM6A_ENST00000543216.1_Frame_Shift_Del_p.L620fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.L654fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.L706fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	699					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TCTCAATCACCTCTCCTCTCAC	0.515			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								12	32	---	---	---	---					
