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
FOXA1	3169	broad.mit.edu	37	14	38061312	38061312	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr14:38061312T>C	ENST00000250448.2	-	2	738	c.677A>G	c.(676-678)gAc>gGc	p.D226G	FOXA1_ENST00000540786.1_Missense_Mutation_p.D193G|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	226					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GACGAAGCAGTCATTGAAGGA	0.607000													11	12					0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124189196	124189196	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:124189196C>T	ENST00000357438.2	-	1	988	c.898G>A	c.(898-900)Gca>Aca	p.A300T		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TTCTTCAGTGCATTTTTCACA	0.393000													37	50					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128481581	128481581	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr7:128481581C>G	ENST00000325888.8	+	13	2342	c.2081C>G	c.(2080-2082)gCt>gGt	p.A694G	FLNC_ENST00000346177.6_Missense_Mutation_p.A694G	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	694					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACCATTGATGCTCGTGCAGCT	0.602000													105	62					0	0	1	0	0
PANX3	116337	broad.mit.edu	37	11	124489568	124489568	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:124489568G>A	ENST00000284288.2	+	4	983	c.916G>A	c.(916-918)Gag>Aag	p.E306K		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	306					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		ATCTGTCTATGAGATGCTCCC	0.443000													21	45					0	0	1	0	0
TCN1	6947	broad.mit.edu	37	11	59620781	59620781	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:59620781C>T	ENST00000257264.3	-	8	1239	c.1135G>A	c.(1135-1137)Gag>Aag	p.E379K		NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	379					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CATGAGCGCTCCTCCATTGTG	0.458000													32	49					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103124075	103124075	+	Silent	SNP	C	C	G			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:103124075C>G	ENST00000375735.2	+	66	10248	c.10104C>G	c.(10102-10104)ctC>ctG	p.L3368L	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.L3375L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3368	AAA 5 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AATTCCGCCTCTTTTTGTCAA	0.373000													36	5					0	0	1	0	0
SUGP1	57794	broad.mit.edu	37	19	19414786	19414786	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr19:19414786G>A	ENST00000334782.5	-	5	617	c.605C>T	c.(604-606)aCg>aTg	p.T202M	SUGP1_ENST00000585763.1_Intron|SUGP1_ENST00000247001.5_Intron			Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	0					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						GCTGTCGGGCGTCCCGAGTCC	0.577000													5	126					0	0	1	0	0
TNFRSF18	8784	broad.mit.edu	37	1	1139318	1139318	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr1:1139318G>A	ENST00000328596.6	-	4	420	c.421C>T	c.(421-423)Cga>Tga	p.R141*	TNFRSF18_ENST00000379265.5_Missense_Mutation_p.S204L|TNFRSF18_ENST00000486728.1_Missense_Mutation_p.S139L|TNFRSF18_ENST00000379268.2_Missense_Mutation_p.S211L	NM_148901.1	NP_683699.1	Q9Y5U5	TNR18_HUMAN	tumor necrosis factor receptor superfamily, member 18	0					anti-apoptosis|apoptosis	extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GTCTTCGGTCGACGGCGGCAC	0.697000													6	6					0	0	1	0	0
LCP1	3936	broad.mit.edu	37	13	46701744	46701744	+	Silent	SNP	T	T	C			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr13:46701744T>C	ENST00000398576.2	-	19	2254	c.1866A>G	c.(1864-1866)aaA>aaG	p.K622K	LCP1_ENST00000323076.2_Silent_p.K622K|LCP1_ENST00000435666.2_Silent_p.K191K			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	622	Actin-binding 2.|CH 4.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCTTCATTCCTTTCCCCATGA	0.562000			T	BCL6	NHL								4	45					0	0	1	0	0
PANX3	116337	broad.mit.edu	37	11	124489288	124489288	+	Silent	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:124489288G>A	ENST00000284288.2	+	4	703	c.636G>A	c.(634-636)agG>agA	p.R212R		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	212					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		ACCTCCTGAGGAACTCCCTCT	0.498000													18	16					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6643327	6643327	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:6643327G>A	ENST00000299441.3	-	21	9991	c.9580C>T	c.(9580-9582)Ccc>Tcc	p.P3194S	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3194					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P3194S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGCTGGGGGACATGGCCGA	0.622000													3	24					0	0	1	0	0
PANX3	116337	broad.mit.edu	37	11	124489636	124489636	+	Silent	SNP	G	G	C			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:124489636G>C	ENST00000284288.2	+	4	1051	c.984G>C	c.(982-984)gtG>gtC	p.V328V		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	328					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		ACCTCAATGTGATCCTTCTTT	0.453000													31	40					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47696433	47696433	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr17:47696433G>C	ENST00000393331.3	-	7	860	c.390C>G	c.(388-390)gaC>gaG	p.D130E	SPOP_ENST00000393328.2_Missense_Mutation_p.D130E|SPOP_ENST00000504102.1_Missense_Mutation_p.D130E|SPOP_ENST00000347630.2_Missense_Mutation_p.D130E|SPOP_ENST00000503676.1_Missense_Mutation_p.D130E	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	130	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						TGAATCCCCAGTCTTTGCCTT	0.453000										Prostate(2;0.17)			47	70					0	0	1	0	0
ATF7	11016	broad.mit.edu	37	12	53917100	53917100	+	Silent	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr12:53917100G>A	ENST00000420353.2	-	11	1343	c.1194C>T	c.(1192-1194)tgC>tgT	p.C398C	ATF7_ENST00000328463.7_Silent_p.C409C|ATF7_ENST00000546661.1_5'UTR|ATF7_ENST00000456903.4_Silent_p.C398C|ATF7_ENST00000548446.2_Silent_p.C409C|RP11-793H13.10_ENST00000591834.1_Silent_p.C398C|ATF7_ENST00000415113.1_Silent_p.C377C	NM_006856.2	NP_006847.1	P17544	ATF7_HUMAN	activating transcription factor 7	409	Essential for binding adenovirus 2 E1A.|Leucine-zipper.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						CAGTGACTGGGCAGTCTTTAT	0.448000													3	50					0	0	1	0	0
PANX3	116337	broad.mit.edu	37	11	124489586	124489586	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:124489586G>C	ENST00000284288.2	+	4	1001	c.934G>C	c.(934-936)Gat>Cat	p.D312H		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	312					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CCCAGCTTTTGATCTCCTCAG	0.433000													17	47					0	0	1	0	0
TBX1	6899	broad.mit.edu	37	22	19754359	19754359	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr22:19754359C>G	ENST00000332710.4	+	9	1586	c.1457C>G	c.(1456-1458)cCg>cGg	p.P486R	TBX1_ENST00000359500.3_Intron|TBX1_ENST00000329705.7_Intron	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN	T-box 1	99					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				GGAGCCGCGCCGCCCGGCTCC	0.761000													4	8					0	0	1	0	0
MYBPH	4608	broad.mit.edu	37	1	203140637	203140637	+	Missense_Mutation	SNP	G	G	A	rs77556926	byFrequency	TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr1:203140637G>A	ENST00000255416.4	-	5	724	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	223	Ig-like C2-type 1.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		TCCCCGGTGCGCATGCTCACC	0.662000													11	22					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108117798	108117798	+	Missense_Mutation	SNP	C	C	T	rs138398778		TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:108117798C>T	ENST00000278616.4	+	8	1394	c.1009C>T	c.(1009-1011)Cgt>Tgt	p.R337C	ATM_ENST00000452508.2_Missense_Mutation_p.R337C	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	337			R -> C (in a colorectal adenocarcinoma sample; somatic mutation).|R -> H (in a colorectal adenocarcinoma sample; somatic mutation).		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	p.R337C(3)|p.R337S(2)|p.F336_A340del(1)		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)		TTCAGGATTTCGTAATATTGC	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)			34	21					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18						keratin filament		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627000													3	32					0	0	1	0	0
GFOD1	54438	broad.mit.edu	37	6	13365848	13365848	+	Translation_Start_Site	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr6:13365848G>A	ENST00000379284.1	-	0	274				GFOD1_ENST00000379287.3_Silent_p.D100D	NM_001242628.1|NM_001242630.1	NP_001229557.1|NP_001229559.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1							extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			TGCGGAAAGCGTCCAGCGGCG	0.662000													33	50					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803552	142803552	+	RNA	SNP	T	T	A	rs141013493	by1000genomes	TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr1:142803552T>A	ENST00000423385.1	-	0	1413																											TCCTGATGAATCTGCAGTCAG	0.269000													4	90					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038381	75038381	+	Silent	SNP	G	G	T			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr1:75038381G>T	ENST00000326665.5	-	14	3231	c.3013C>A	c.(3013-3015)Cgg>Agg	p.R1005R	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1005	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ACCTGCATCCGGCTTGCCTCT	0.542000													29	44					4.87955e-14	5.30386e-14	1	1	0
PLEKHG3	26030	broad.mit.edu	37	14	65209152	65209152	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr14:65209152G>A	ENST00000247226.7	+	14	3057	c.2749G>A	c.(2749-2751)Gga>Aga	p.G917R	PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.G478R|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.G506R|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.G973R	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	973					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGAAGAGGCTGGAGAGCCATT	0.587000													10	16					0	0	1	0	0
PANX3	116337	broad.mit.edu	37	11	124489570	124489570	+	Silent	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:124489570G>A	ENST00000284288.2	+	4	985	c.918G>A	c.(916-918)gaG>gaA	p.E306E		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	306					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CTGTCTATGAGATGCTCCCAG	0.453000													22	46					0	0	1	0	0
CMIP	80790	broad.mit.edu	37	16	81735396	81735396	+	Silent	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr16:81735396G>A	ENST00000537098.3	+	16	1959	c.1887G>A	c.(1885-1887)ctG>ctA	p.L629L	CMIP_ENST00000539778.2_Silent_p.L535L|CMIP_ENST00000398040.4_Silent_p.L476L|CMIP_ENST00000566513.1_3'UTR	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	595						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						AGCGGGAGCTGAAGGAGCTGG	0.652000													4	56					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151878020	151878020	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr7:151878020G>A	ENST00000355193.2	-	36	7143	c.6925C>T	c.(6925-6927)Cag>Tag	p.Q2309*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q2309*					lysine (K)-specific methyltransferase 2C																		GAGTCAGACTGAGATCTTGGA	0.507000													50	18					0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72511348	72511348	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr10:72511348A>T	ENST00000373208.1	+	17	2551	c.2551A>T	c.(2551-2553)Acc>Tcc	p.T851S	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.T848S	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	848	TSP type-1 2.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GGAGATGGACACCTATGAGTG	0.632000													16	23					0	0	1	0	0
GTF2IRD2P1	0	broad.mit.edu	37	7	72685542	72685542	+	RNA	SNP	G	G	A	rs2539086		TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr7:72685542G>A	ENST00000425256.1	-	0	116																											ACGTTACCATGACAAAAGCAG	0.463000													4	161					0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125805805	125805805	+	Translation_Start_Site	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr10:125805805G>A	ENST00000346248.5	-	0	566				CHST15_ENST00000462406.1_5'UTR|CHST15_ENST00000435907.1_De_novo_Start_InFrame|CHST15_ENST00000421115.1_De_novo_Start_InFrame	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15						hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TCCGCAAGTCGTGCTAGAAAA	0.517000													7	7					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54259322	54259322	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chrX:54259322C>T	ENST00000354646.2	-	21	5198	c.4760G>A	c.(4759-4761)cGt>cAt	p.R1587H	WNK3_ENST00000375159.2_Missense_Mutation_p.R1587H|WNK3_ENST00000375169.3_Missense_Mutation_p.R1540H	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1540					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TCTTGGTCGACGTGGTGATGC	0.458000													5	36					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193032862	193032862	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr3:193032862G>A	ENST00000342358.4	-	18	2174	c.2057C>T	c.(2056-2058)aCa>aTa	p.T686I		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	686					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TCCCAGAAATGTTAACTCTGA	0.358000													9	180					0	0	1	0	0
GALNT12	79695	broad.mit.edu	37	9	101608342	101608342	+	Silent	SNP	T	T	C			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr9:101608342T>C	ENST00000375011.3	+	9	1542	c.1542T>C	c.(1540-1542)gaT>gaC	p.D514D		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	514	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				CAGGAATGGATACCCTTATCA	0.498000													22	38					0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43625113	43625113	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr22:43625113C>T	ENST00000360835.4	-	9	1175	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1		EGF-like 8; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GATGTAGCCGCGGTGACACAG	0.677000											OREG0026614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	19					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8203374	8203374	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr19:8203374G>A	ENST00000600128.1	-	9	1354	c.940C>T	c.(940-942)Cgc>Tgc	p.R314C	FBN3_ENST00000601739.1_Missense_Mutation_p.R314C|FBN3_ENST00000270509.2_Missense_Mutation_p.R314C			Q75N90	FBN3_HUMAN	fibrillin 3	314	TB 2.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CACTGCCTGCGAGTGTAGTGG	0.662000													11	18					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33628320	33628320	+	Silent	SNP	T	T	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr13:33628320T>A	ENST00000380099.3	+	2	1244	c.1236T>A	c.(1234-1236)atT>atA	p.I412I	KL_ENST00000426690.2_Silent_p.I105I|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	412	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AAATATTTATTGTGGAAAATG	0.403000													7	73					0	0	1	0	0
HAPLN3	145864	broad.mit.edu	37	15	89430419	89430419	+	Silent	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr15:89430419G>A	ENST00000359595.3	-	2	325	c.111C>T	c.(109-111)aaC>aaT	p.N37N	HAPLN3_ENST00000562889.1_Silent_p.N99N	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	37					cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					TGCCATGACCGTTGCCTAGGT	0.607000													3	59					0	0	1	0	0
AC024560.3	0	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398000													6	110					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2770030	2770030	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr18:2770030G>T	ENST00000320876.6	+	39	5228	c.4890G>T	c.(4888-4890)aaG>aaT	p.K1630N	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.K1630N	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1630					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CAAAAGAAAAGGACCAATTAT	0.269000													17	34					3.41278e-10	3.63062e-10	1	1	0
HMCN1	83872	broad.mit.edu	37	1	185959539	185959539	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr1:185959539C>A	ENST00000271588.4	+	22	3570	c.3341C>A	c.(3340-3342)gCc>gAc	p.A1114D	HMCN1_ENST00000367492.2_Missense_Mutation_p.A1114D|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1114	Ig-like C2-type 8.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATTACTTGGGCCAAAGAAACC	0.483000													31	50					9.78306e-22	1.08701e-21	1	1	0
TMC7	79905	broad.mit.edu	37	16	19020721	19020721	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr16:19020721G>T	ENST00000304381.5	+	2	425	c.295G>T	c.(295-297)Gag>Tag	p.E99*	TMC7_ENST00000569532.1_Nonsense_Mutation_p.E99*|TMC7_ENST00000421369.3_5'UTR	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	99						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GAACATCTCTGAGAAGCGGAG	0.468000													4	152					2.56e-06	2.66667e-06	1	1	0
FRG1B	0	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N														p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000													5	79					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35605581	35605581	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr17:35605581G>A	ENST00000353139.5	-	17	2580	c.2099C>T	c.(2098-2100)gCt>gTt	p.A700V	ACACA_ENST00000360679.3_Missense_Mutation_p.A605V|ACACA_ENST00000335166.5_Missense_Mutation_p.A585V|ACACA_ENST00000394406.2_Missense_Mutation_p.A663V	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	663					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AAGTGTATGAGCAGGAAGGAC	0.378000													34	66					0	0	1	0	0
BIRC7	79444	broad.mit.edu	37	20	61870925	61870925	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr20:61870925G>A	ENST00000217169.3	+	6	1079	c.865G>A	c.(865-867)Gtc>Atc	p.V289I	BIRC7_ENST00000342412.6_Missense_Mutation_p.V271I|BIRC7_ENST00000395306.1_Missense_Mutation_p.V184I	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	289					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding	p.V289I(1)		endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					CAGAGCCCCCGTCCGCAGCCG	0.726000													21	11					0	0	1	0	0
TYW3	127253	broad.mit.edu	37	1	75229587	75229589	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr1:75229587_75229589delCTG	ENST00000370867.3	+	6	659_661	c.570_572delCTG	c.(568-573)aactgc>aac	p.C191del	TYW3_ENST00000467646.1_3'UTR|TYW3_ENST00000479111.1_In_Frame_Del_p.C71del|TYW3_ENST00000457880.2_In_Frame_Del_p.C158del|TYW3_ENST00000421739.2_In_Frame_Del_p.C107del	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	191					tRNA processing		methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						GGTTTTACAACTGCCTACAGCAT	0.320													24	36	---	---	---	---					
SEC16B	89866	broad.mit.edu	37	1	177917008	177917008	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr1:177917008delC	ENST00000308284.6	-	13	1704	c.1615delG	c.(1615-1617)gacfs	p.D539fs	SEC16B_ENST00000464631.2_Frame_Shift_Del_p.D540fs|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	539					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						AGCTCTGGGTCCCCAGCCTGA	0.547													2	4	---	---	---	---					
LINC00882	0	broad.mit.edu	37	3	106824710	106824711	+	RNA	DEL	TT	TT	-	rs139188639		TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr3:106824710_106824711delTT	ENST00000484698.1	-	0	295																											tttttatatctttttttttttt	0.450													4	4	---	---	---	---					
KLRAP1	0	broad.mit.edu	37	12	10750854	10750858	+	RNA	DEL	GATTT	GATTT	-			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr12:10750854_10750858delGATTT	ENST00000510134.2	-	0	148																				breast(1)|large_intestine(1)|lung(1)	3						AACACACCAGGATTTGATGCTGAGA	0.361													7	8	---	---	---	---					
KERA	11081	broad.mit.edu	37	12	91449367	91449367	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr12:91449367delT	ENST00000266719.3	-	2	939	c.692delA	c.(691-693)aatfs	p.N231fs		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	231					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						ATTAAAATAATTTTCTGGTAT	0.373													7	108	---	---	---	---					
RP11-248G5.8	0	broad.mit.edu	37	13	52857402	52857402	+	RNA	DEL	A	A	-			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr13:52857402delA	ENST00000451298.1	-	0	303																											ACTTAACGTCAAAAAAAATGT	0.289													2	4	---	---	---	---					
TRAV9-2	0	broad.mit.edu	37	14	22409533	22409539	+	RNA	DEL	CTCTCTC	CTCTCTC	-	rs57759840		TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr14:22409533_22409539delCTCTCTC	ENST00000390441.2	+	0	102																											ctctctctctctctctctTTTTTTTTT	0.415													3	3	---	---	---	---					
PKD1L2	114780	broad.mit.edu	37	16	81150913	81150917	+	RNA	DEL	AACGG	AACGG	-			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr16:81150913_81150917delAACGG	ENST00000534142.1	-	0	1161				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTGGGCCTCAAACGGAGCTGTAGGA	0.595													7	6	---	---	---	---					
TFAP2C	7022	broad.mit.edu	37	20	55208584	55208594	+	Frame_Shift_Del	DEL	TGAATGCTTAA	TGAATGCTTAA	-			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr20:55208584_55208594delTGAATGCTTAA	ENST00000201031.2	+	4	1005_1015	c.762_772delTGAATGCTTAA	c.(760-774)cctgaatgcttaaatfs	p.ECLN255fs	TFAP2C_ENST00000544508.1_Frame_Shift_Del_p.ECLN86fs	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	255					cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			TGTCCCCACCTGAATGCTTAAATGCCTCGTT	0.512													12	62	---	---	---	---					
