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
LYG2	254773	broad.mit.edu	37	2	99858848	99858848	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:99858848G>T	ENST00000333017.2	-	6	730	c.618C>A	c.(616-618)ttC>ttA	p.F206L	LYG2_ENST00000423800.1_3'UTR|LYG2_ENST00000409238.1_Missense_Mutation_p.F206L	NM_175735.3	NP_783862.2	Q86SG7	LYG2_HUMAN	lysozyme G-like 2	206					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						GTCTTTTATAGAACTTAGCTC	0.463000													58	100					1.4709e-25	1.65476e-25	0.870114	1	0
CORO7	79585	broad.mit.edu	37	16	4411441	4411441	+	Silent	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr16:4411441C>T	ENST00000251166.4	-	17	1753	c.1608G>A	c.(1606-1608)acG>acA	p.T536T	CORO7_ENST00000537233.2_Silent_p.T518T|CORO7_ENST00000539968.1_Silent_p.T316T|CORO7-PAM16_ENST00000572467.1_Silent_p.T536T|CORO7_ENST00000574025.1_Silent_p.T451T|CORO7_ENST00000423908.2_3'UTR	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						TGGGCAGTGCCGTGTCGGGCA	0.687000													35	95					0	0	0.804634	0	0
IFT122	55764	broad.mit.edu	37	3	129195584	129195584	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr3:129195584T>A	ENST00000296266.3	+	12	1432	c.1240T>A	c.(1240-1242)Tat>Aat	p.Y414N	IFT122_ENST00000504021.1_Missense_Mutation_p.Y257N|IFT122_ENST00000440957.2_Missense_Mutation_p.Y154N|IFT122_ENST00000347300.2_Missense_Mutation_p.Y304N|IFT122_ENST00000431818.2_Missense_Mutation_p.Y213N|IFT122_ENST00000349441.2_Missense_Mutation_p.Y252N|IFT122_ENST00000507564.1_Missense_Mutation_p.Y355N|IFT122_ENST00000348417.2_Missense_Mutation_p.Y363N	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	363					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CAAGGACCGCTATGCCTACAG	0.547000													54	89					0	0	0.870114	0	0
GNAZ	2781	broad.mit.edu	37	22	23438310	23438310	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr22:23438310G>A	ENST00000248996.4	+	2	1094	c.428G>A	c.(427-429)cGc>cAc	p.R143H	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	143						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TGCTTCAGCCGCTCCAGCGAG	0.657000													7	140					0	0	0.361761	0	0
CSMD3	114788	broad.mit.edu	37	8	113694715	113694715	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr8:113694715A>C	ENST00000297405.5	-	16	2877	c.2633T>G	c.(2632-2634)aTg>aGg	p.M878R	CSMD3_ENST00000455883.2_Missense_Mutation_p.M774R|CSMD3_ENST00000352409.3_Missense_Mutation_p.M878R|CSMD3_ENST00000343508.3_Missense_Mutation_p.M838R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	878	Sushi 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTTCCATCCATAAGAATACA	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			53	114					0	0	0.870114	0	0
LPHN2	23266	broad.mit.edu	37	1	82456786	82456786	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:82456786G>C	ENST00000370728.1	+	25	4982	c.4337G>C	c.(4336-4338)gGa>gCa	p.G1446A	LPHN2_ENST00000335786.5_Missense_Mutation_p.G1403A|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000319517.6_Missense_Mutation_p.G1390A|LPHN2_ENST00000370717.2_Missense_Mutation_p.G1461A|LPHN2_ENST00000394879.1_Missense_Mutation_p.G1448A|LPHN2_ENST00000370721.1_Missense_Mutation_p.G1371A|LPHN2_ENST00000370730.1_Missense_Mutation_p.G1403A|LPHN2_ENST00000370727.1_Missense_Mutation_p.G1418A|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000370723.1_Missense_Mutation_p.G1448A|LPHN2_ENST00000271029.4_Missense_Mutation_p.G1418A|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000359929.3_Missense_Mutation_p.G1390A|LPHN2_ENST00000370725.1_Missense_Mutation_p.G1461A			O95490	LPHN2_HUMAN	latrophilin 2	1446					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		attccagAAGGAGATGTTAGA	0.423000													10	9					0	0	0.335167	0	0
PSMD1	5707	broad.mit.edu	37	2	231947666	231947666	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:231947666G>A	ENST00000308696.6	+	13	1645	c.1483G>A	c.(1483-1485)Gat>Aat	p.D495N	PSMD1_ENST00000409643.1_Missense_Mutation_p.D495N|PSMD1_ENST00000373635.4_Missense_Mutation_p.D495N	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	495					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	AGATGTTTATGATTTGCTAAA	0.363000													25	40					0	0	0.681144	0	0
ATOH8	84913	broad.mit.edu	37	2	85982034	85982034	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:85982034C>G	ENST00000306279.3	+	1	1018	c.722C>G	c.(721-723)aCg>aGg	p.T241R	ATOH8_ENST00000463422.1_3'UTR	NM_032827.6	NP_116216.2	Q96SQ7	ATOH8_HUMAN	atonal homolog 8 (Drosophila)	241					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AGGGAGCGGACGCGGGTGCAC	0.706000													70	101					0	0	0.870114	0	0
PSD2	84249	broad.mit.edu	37	5	139215325	139215325	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr5:139215325C>G	ENST00000274710.3	+	9	1582	c.1377C>G	c.(1375-1377)atC>atG	p.I459M		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	459	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACTCCATCAAGAATGAAA	0.527000													287	476					0	0	0.870114	0	0
ZNF780B	163131	broad.mit.edu	37	19	40541026	40541026	+	Silent	SNP	G	G	A	rs143352640	by1000genomes	TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:40541026G>A	ENST00000434248.1	-	5	1805	c.1740C>T	c.(1738-1740)acC>acT	p.T580T	ZNF780B_ENST00000221355.6_Silent_p.T432T	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	580					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTTTCTTTCCGGTATGAATAC	0.388000													36	123					0	0	0.796494	0	0
HCN4	10021	broad.mit.edu	37	15	73624589	73624589	+	Silent	SNP	G	G	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr15:73624589G>T	ENST00000261917.3	-	3	2247	c.1254C>A	c.(1252-1254)atC>atA	p.I418I		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	418					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGAGGTTCACGATGCGCACCA	0.612000													70	96					1.1794e-34	1.36085e-34	0.870114	1	0
SRCAP	10847	broad.mit.edu	37	16	30724634	30724634	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr16:30724634G>C	ENST00000262518.4	+	15	2621	c.2236G>C	c.(2236-2238)Gat>Cat	p.D746H	SRCAP_ENST00000395059.2_Missense_Mutation_p.D746H|SRCAP_ENST00000344771.4_Missense_Mutation_p.D746H	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	746	Helicase ATP-binding.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.D746H(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCTCATTCTGGATGAGGCGCA	0.527000													96	132					0	0	0.870114	0	0
ZNF234	10780	broad.mit.edu	37	19	44662014	44662014	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:44662014G>C	ENST00000426739.2	+	6	2103	c.1845G>C	c.(1843-1845)caG>caC	p.Q615H	ZNF234_ENST00000592437.1_Missense_Mutation_p.Q615H	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	615					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AACTTCATCAGAGTGTCCACA	0.473000													55	81					0	0	0.870114	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767336	77767336	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr8:77767336T>C	ENST00000521891.2	+	10	8627	c.8179T>C	c.(8179-8181)Tac>Cac	p.Y2727H	ZFHX4_ENST00000518282.1_Missense_Mutation_p.Y2701H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Y2682H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Y2682H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2682						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCCACAGAAATACATCTATTT	0.428000										HNSCC(33;0.089)			13	40					0	0	0.411799	0	0
ANP32D	23519	broad.mit.edu	37	12	48866717	48866717	+	Silent	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr12:48866717C>T	ENST00000266594.1	+	1	270	c.270C>T	c.(268-270)ctC>ctT	p.L90L		NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member D	90										central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						GTCCAAACCTCATACATCTAA	0.398000													35	53					0	0	0.796494	0	0
KIAA1210	57481	broad.mit.edu	37	X	118220587	118220587	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chrX:118220587A>G	ENST00000402510.2	-	11	4605	c.4606T>C	c.(4606-4608)Tct>Cct	p.S1536P		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1536										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						GCAACGTAAGATATTTTGGTG	0.512000													53	15					0	0	0.870114	0	0
SCG3	29106	broad.mit.edu	37	15	51975502	51975502	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr15:51975502G>C	ENST00000220478.3	+	4	671	c.268G>C	c.(268-270)Gaa>Caa	p.E90Q	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	90					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AATTGAGAAAGAAAGACAATC	0.358000													98	144					0	0	0.870114	0	0
MDN1	23195	broad.mit.edu	37	6	90428326	90428326	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr6:90428326C>T	ENST00000369393.3	-	43	6457	c.6342G>A	c.(6340-6342)tgG>tgA	p.W2114*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.W2114*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2114					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCAGCCTCCTCCAAGGTCGTA	0.473000													26	53					0	0	0.706142	0	0
SRCAP	10847	broad.mit.edu	37	16	30723437	30723437	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr16:30723437G>C	ENST00000262518.4	+	12	2159	c.1774G>C	c.(1774-1776)Gaa>Caa	p.E592Q	SRCAP_ENST00000395059.2_Missense_Mutation_p.E592Q|SRCAP_ENST00000344771.4_Missense_Mutation_p.E592Q	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	592					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGCAGCAGCTGAAAGTCTCCA	0.542000													42	85					0	0	0.847076	0	0
MEGF6	1953	broad.mit.edu	37	1	3407103	3407103	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:3407103C>T	ENST00000356575.4	-	37	4841	c.4615G>A	c.(4615-4617)Gcg>Acg	p.A1539T	MEGF6_ENST00000294599.4_Missense_Mutation_p.A1227T	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1539						extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TAGTGCCTCGCTGGTCCACCG	0.672000													30	58					0	0	0.740014	0	0
SDAD1	55153	broad.mit.edu	37	4	76882456	76882456	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr4:76882456T>C	ENST00000356260.5	-	15	1305	c.1187A>G	c.(1186-1188)aAt>aGt	p.N396S	SDAD1_ENST00000513089.1_5'UTR|SDAD1_ENST00000395711.4_Missense_Mutation_p.N359S	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	396				N -> S (in Ref. 1; CAH18368).	protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CTTTATAGCATTGATTCTAGA	0.368000													44	59					0	0	0.864702	0	0
GAA	2548	broad.mit.edu	37	17	78079575	78079575	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr17:78079575G>T	ENST00000302262.3	+	3	793	c.574G>T	c.(574-576)Gag>Tag	p.E192*	GAA_ENST00000390015.3_Nonsense_Mutation_p.E192*	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	192					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CAGGCGCTACGAGGTGCCCTT	0.602000													49	193					7.47603e-22	8.25573e-22	0.870114	1	0
MAPK14	1432	broad.mit.edu	37	6	36067964	36067964	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr6:36067964G>A	ENST00000229795.3	+	9	1129		c.e9-1		MAPK14_ENST00000310795.4_Intron|MAPK14_ENST00000229794.4_Intron|MAPK14_ENST00000468133.1_Intron	NM_001315.2	NP_001306.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14						activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						AGGCATCTAAGATATTAACCA	0.403000													63	108					0	0	0.870114	0	0
TPM2	7169	broad.mit.edu	37	9	35685657	35685657	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr9:35685657C>T	ENST00000378292.3	-	3	1563	c.361G>A	c.(361-363)Gat>Aat	p.D121N	TPM2_ENST00000378300.5_Missense_Mutation_p.D121N|TPM2_ENST00000329305.2_Missense_Mutation_p.D121N|TPM2_ENST00000360958.2_Missense_Mutation_p.D121N	NM_213674.1	NP_998839.1	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	121					muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCGCTCTCATCAGCCGCCTTC	0.672000													84	112					0	0	0.870114	0	0
BRCA1	672	broad.mit.edu	37	17	41246211	41246211	+	Missense_Mutation	SNP	C	C	G	rs80357978		TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr17:41246211C>G	ENST00000309486.4	-	9	1476	c.449G>C	c.(448-450)aGa>aCa	p.R150T	BRCA1_ENST00000346315.3_Missense_Mutation_p.R446T|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.R399T|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.R446T|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.R446T|BRCA1_ENST00000354071.3_Missense_Mutation_p.R446T	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	446					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGAGTGAACTCTTTCACTTTT	0.378000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			47	70					0	0	0.864702	0	0
ZNF142	7701	broad.mit.edu	37	2	219503085	219503085	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:219503085G>C	ENST00000411696.2	-	9	5820	c.5041C>G	c.(5041-5043)Ccc>Gcc	p.P1681A	ZNF142_ENST00000449707.1_Missense_Mutation_p.P1681A			P52746	ZN142_HUMAN	zinc finger protein 142	1681					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCAGTGTGGGGAGCGGCAGGA	0.627000													14	26					0	0	0.557998	0	0
ABCC5	10057	broad.mit.edu	37	3	183689484	183689484	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr3:183689484G>A	ENST00000334444.6	-	11	1868	c.1628C>T	c.(1627-1629)gCa>gTa	p.A543V	ABCC5_ENST00000265586.6_Missense_Mutation_p.A543V	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	543						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTTCTGCTCTGCCAGCACCGC	0.597000													49	100					0	0	0.870114	0	0
TTN	7273	broad.mit.edu	37	2	179413427	179413427	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:179413427C>T	ENST00000589042.1	-	339	93150	c.92926G>A	c.(92926-92928)Gat>Aat	p.D30976N	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D22036N|TTN_ENST00000460472.2_Missense_Mutation_p.D21911N|TTN_ENST00000342992.6_Missense_Mutation_p.D28408N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D22103N|TTN_ENST00000591111.1_Missense_Mutation_p.D29335N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29335	Fibronectin type-III 126.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGAAGGAATCTGTTGTATGG	0.448000													38	72					0	0	0.812448	0	0
PLIN5	440503	broad.mit.edu	37	19	4523684	4523684	+	Silent	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:4523684C>T	ENST00000381848.3	-	8	1328	c.1248G>A	c.(1246-1248)caG>caA	p.Q416Q		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	416						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CCCAGGCTCTCTGCTGGGCCG	0.711000											OREG0025168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	129	177					0	0	0.870114	0	0
KMT2D	8085	broad.mit.edu	37	12	49427906	49427906	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr12:49427906C>A	ENST00000301067.7	-	38	10683	c.10684G>T	c.(10684-10686)Gag>Tag	p.E3562*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TTGAGCTTCTCAGCATCAGCT	0.547000													77	113					3.4887e-51	4.13136e-51	0.870114	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144864203	144864203	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:144864203C>G	ENST00000369359.4	-	39	6338	c.6300G>C	c.(6298-6300)ttG>ttC	p.L2100F	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L2049F|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L1964F|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.L1964F|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L1858F			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1964					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCTTCTCCCTCAAGTCTTCCA	0.547000			T	PDGFRB	MPD								78	444					0	0	0.870114	0	0
HMGXB4	10042	broad.mit.edu	37	22	35684398	35684398	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr22:35684398G>A	ENST00000216106.5	+	9	1764	c.1636G>A	c.(1636-1638)Gag>Aag	p.E546K	HMGXB4_ENST00000444518.2_Missense_Mutation_p.E437K	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	546					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCAGGAAACTGAGGTGAATAC	0.438000													25	53					0	0	0.681144	0	0
SETD3	84193	broad.mit.edu	37	14	99866554	99866554	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr14:99866554C>T	ENST00000331768.5	-	12	1379	c.1220G>A	c.(1219-1221)aGa>aAa	p.R407K		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	407					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				GGTGAAGATTCTATCAATAGC	0.403000													54	102					0	0	0.870114	0	0
TEAD4	7004	broad.mit.edu	37	12	3128321	3128321	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr12:3128321C>T	ENST00000359864.2	+	8	758	c.568C>T	c.(568-570)Ccg>Tcg	p.P190S	TEAD4_ENST00000358409.2_Missense_Mutation_p.P147S|TEAD4_ENST00000397122.2_Missense_Mutation_p.P61S	NM_003213.3	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4	190					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			TGTCCAGCCTCCGCTGCCTCT	0.682000													67	91					0	0	0.870114	0	0
BMS1P20	96610	broad.mit.edu	37	22	22661312	22661312	+	RNA	SNP	T	T	C	rs3855711		TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr22:22661312T>C	ENST00000426066.1	+	0	360					NR_027293.1																						TGAATTTGTGTAGAACTTTGA	0.473000													4	99					0	0	0.411799	0	0
ODF1	4956	broad.mit.edu	37	8	103564035	103564035	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr8:103564035G>T	ENST00000285402.3	+	1	236	c.80G>T	c.(79-81)tGc>tTc	p.C27F		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	27					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CAACTGAGATGCATCGACGAA	0.483000													79	285					3.12118e-38	3.6246e-38	0.870114	1	0
USP37	57695	broad.mit.edu	37	2	219360635	219360635	+	Silent	SNP	C	C	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:219360635C>A	ENST00000258399.3	-	14	1732	c.1320G>T	c.(1318-1320)ctG>ctT	p.L440L	USP37_ENST00000454775.1_Silent_p.L440L|USP37_ENST00000415516.1_Silent_p.L368L|USP37_ENST00000418019.1_Silent_p.L440L	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	440					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TATCTTCTTTCAGCTGGTCCA	0.343000													36	63					4.62619e-21	5.04675e-21	0.796494	1	0
GRIN2C	2905	broad.mit.edu	37	17	72843023	72843023	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr17:72843023A>C	ENST00000293190.5	-	10	2184	c.2038T>G	c.(2038-2040)Ttc>Gtc	p.F680V	GRIN2C_ENST00000347612.4_Missense_Mutation_p.F680V	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	680					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	ACCGTGCCGAAGCGGAAAGGT	0.612000													104	260					0	0	0.870114	0	0
RPP25	54913	broad.mit.edu	37	15	75248520	75248520	+	Silent	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr15:75248520G>A	ENST00000322177.5	-	1	1285	c.405C>T	c.(403-405)ctC>ctT	p.L135L	RPP25_ENST00000499788.2_Silent_p.L135L	NM_017793.2	NP_060263.2	Q9BUL9	RPP25_HUMAN	ribonuclease P/MRP 25kDa subunit	135					tRNA processing	nucleus	protein binding|ribonuclease P activity|RNA binding			breast(1)|lung(1)	2						GTAGGATGGCGAGGCCGGGCA	0.697000													15	19					0	0	0.479597	0	0
TECTA	7007	broad.mit.edu	37	11	121028601	121028601	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr11:121028601C>T	ENST00000392793.1	+	14	4628	c.4357C>T	c.(4357-4359)Cgt>Tgt	p.R1453C	TECTA_ENST00000264037.2_Missense_Mutation_p.R1453C			O75443	TECTA_HUMAN	tectorin alpha	1453					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCGCTGTTTCCGTCGCAACGT	0.602000													9	177					0	0	0.361761	0	0
MED24	9862	broad.mit.edu	37	17	38178227	38178227	+	Silent	SNP	G	G	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr17:38178227G>T	ENST00000394126.1	-	22	3097	c.2679C>A	c.(2677-2679)gcC>gcA	p.A893A	MED24_ENST00000356271.3_Silent_p.A855A|MED24_ENST00000394128.2_Silent_p.A868A|MED24_ENST00000394127.2_Silent_p.A855A|MED24_ENST00000501516.3_Silent_p.A887A			O75448	MED24_HUMAN	mediator complex subunit 24	868					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					AAAGGATGTTGGCATCGTCCT	0.587000													75	129					8.79861e-51	1.03513e-50	0.870114	1	0
DNA2	1763	broad.mit.edu	37	10	70190242	70190242	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr10:70190242G>A	ENST00000399180.2	-	14	2416	c.2417C>T	c.(2416-2418)tCa>tTa	p.S806L	DNA2_ENST00000358410.3_Missense_Mutation_p.S720L|DNA2_ENST00000399179.2_Intron			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	720					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						AATGGACTTTGATCTGCAAAT	0.348000													7	13					0	0	0.278610	0	0
DOCK10	55619	broad.mit.edu	37	2	225653783	225653783	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:225653783C>G	ENST00000409592.3	-	48	5511	c.5398G>C	c.(5398-5400)Gag>Cag	p.E1800Q	DOCK10_ENST00000258390.7_Missense_Mutation_p.E1806Q			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1806	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GGTCTAACCTCATTGTATGGT	0.393000													6	21					0	0	0.217242	0	0
GBP6	163351	broad.mit.edu	37	1	89849217	89849217	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:89849217G>C	ENST00000370456.4	+	9	1465	c.1372G>C	c.(1372-1374)Gag>Cag	p.E458Q	GBP6_ENST00000535065.1_Missense_Mutation_p.E328Q	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	458							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		ATAGGCAAAAGAGGTCTTCCA	0.408000													23	24					0	0	0.667858	0	0
NSD1	64324	broad.mit.edu	37	5	176709524	176709524	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr5:176709524G>T	ENST00000439151.2	+	19	5996	c.5951G>T	c.(5950-5952)cGa>cTa	p.R1984L	NSD1_ENST00000347982.4_Missense_Mutation_p.R1715L|NSD1_ENST00000361032.4_Missense_Mutation_p.R1881L|NSD1_ENST00000354179.4_Missense_Mutation_p.R1715L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1984	SET.		R -> Q (in SOTOSS; loss of enzyme activity).		negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	p.R1984Q(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGCAGAGCTCGAATTCGCTAT	0.373000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			76	111					4.09166e-32	4.69107e-32	0.870114	1	0
INHA	3623	broad.mit.edu	37	2	220439578	220439578	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:220439578C>A	ENST00000243786.2	+	2	611	c.431C>A	c.(430-432)gCc>gAc	p.A144D	INHA_ENST00000489456.1_3'UTR	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	144					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGCACAGCAGCCTCCAATAGC	0.642000													52	61					7.34454e-26	8.31458e-26	0.870114	1	0
DTWD1	56986	broad.mit.edu	37	15	49926748	49926748	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr15:49926748C>A	ENST00000251250.6	+	5	631	c.424C>A	c.(424-426)Cct>Act	p.P142T	DTWD1_ENST00000558653.1_Missense_Mutation_p.P142T|DTWD1_ENST00000559223.1_3'UTR|DTWD1_ENST00000415425.1_Missense_Mutation_p.P55T|DTWD1_ENST00000403028.3_Missense_Mutation_p.P142T	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	142										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		ACTCATTTTTCCTGGACCTCA	0.308000													35	51					8.16277e-20	8.8512e-20	0.827153	1	0
DENND4B	9909	broad.mit.edu	37	1	153907303	153907303	+	Silent	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:153907303C>T	ENST00000361217.4	-	18	3124	c.2706G>A	c.(2704-2706)caG>caA	p.Q902Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	902	Gln-rich.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgctgctgttgctgct	0.642000													5	69					0	0	0.248553	0	0
P2RX2	22953	broad.mit.edu	37	12	133196152	133196152	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr12:133196152C>A	ENST00000389110.3	+	2	338	c.301C>A	c.(301-303)Ccc>Acc	p.P101T	P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000348800.5_Missense_Mutation_p.P101T|P2RX2_ENST00000343948.4_Missense_Mutation_p.P101T|P2RX2_ENST00000352418.4_Missense_Mutation_p.A78D|P2RX2_ENST00000449132.2_Missense_Mutation_p.P101T|P2RX2_ENST00000350048.5_Missense_Mutation_p.P101T	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	101					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		GTACGTGAAGCCCCCCGAGGT	0.721000													46	88					3.05275e-18	3.2708e-18	0.864702	1	0
KIAA1430	57587	broad.mit.edu	37	4	186111887	186111887	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr4:186111887G>C	ENST00000458385.2	-	2	583	c.464C>G	c.(463-465)tCt>tGt	p.S155C	KIAA1430_ENST00000296775.6_Missense_Mutation_p.S155C|KIAA1430_ENST00000514798.1_Missense_Mutation_p.S155C	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN	KIAA1430	155										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		AACGTTAGTAGATGGTTTAGC	0.383000													7	15					0	0	0.278610	0	0
AR	367	broad.mit.edu	37	X	66765006	66765006	+	Silent	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chrX:66765006G>A	ENST00000374690.3	+	1	542	c.18G>A	c.(16-18)ggG>ggA	p.G6G	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Silent_p.G6G|AR_ENST00000504326.1_Silent_p.G6G	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	6	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TGCAGTTAGGGCTGGGAAGGG	0.577000									Androgen Insensitivity Syndrome				37	8					0	0	0.827153	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100673517	100673517	+	Silent	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr15:100673517G>A	ENST00000268070.4	-	11	1582	c.1477C>T	c.(1477-1479)Cta>Tta	p.L493L		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	493	Disintegrin.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		gcacacattagatgctGCAGG	0.547000													6	18					0	0	0.248553	0	0
SMARCC2	6601	broad.mit.edu	37	12	56567574	56567574	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr12:56567574C>T	ENST00000394023.3	-	17	1661	c.1556G>A	c.(1555-1557)cGa>cAa	p.R519Q	SMARCC2_ENST00000550164.1_Missense_Mutation_p.R519Q|SMARCC2_ENST00000267064.4_Missense_Mutation_p.R519Q|SMARCC2_ENST00000347471.4_Missense_Mutation_p.R519Q|RP11-977G19.5_ENST00000553176.1_RNA	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	519	SWIRM.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGGGGTTGGTCGACTCTCAGC	0.577000													141	233					0	0	0.870114	0	0
PNMAL1	55228	broad.mit.edu	37	19	46973800	46973800	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:46973800C>G	ENST00000313683.10	-	2	798	c.493G>C	c.(493-495)Gat>Cat	p.D165H	PNMAL1_ENST00000438932.2_Missense_Mutation_p.D165H|PNMAL1_ENST00000602246.1_Intron	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	165										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		ATCTCGGCATCCATGCAGAAG	0.622000													121	175					0	0	0.870114	0	0
MRGPRE	116534	broad.mit.edu	37	11	3249613	3249613	+	Silent	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr11:3249613C>T	ENST00000389832.5	-	2	723	c.417G>A	c.(415-417)ctG>ctA	p.L139L	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Silent_p.L138L			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	138						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACAGGTGGTCAGGTGGCGTG	0.706000													13	18					0	0	0.479597	0	0
TLL2	7093	broad.mit.edu	37	10	98155634	98155634	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr10:98155634C>G	ENST00000357947.3	-	12	1753	c.1528G>C	c.(1528-1530)Gag>Cag	p.E510Q	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	510	CUB 2.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GCACTCACCTCAAAAGCTTGG	0.478000											OREG0020398	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	61					0	0	0.859065	0	0
FAM71E1	112703	broad.mit.edu	37	19	50978631	50978631	+	Silent	SNP	A	A	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:50978631A>G	ENST00000600100.1	-	3	854	c.490T>C	c.(490-492)Ttg>Ctg	p.L164L	FAM71E1_ENST00000595790.1_Silent_p.L148L			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	164										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		GCCAGAAGCAATAGGTCCGGG	0.647000													14	36					0	0	0.457914	0	0
LTN1	26046	broad.mit.edu	37	21	30365173	30365173	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr21:30365173C>A	ENST00000389194.2	-	1	97	c.92G>T	c.(91-93)cGt>cTt	p.R31L	LTN1_ENST00000389195.2_Missense_Mutation_p.R31L|LTN1_ENST00000361371.5_5'UTR	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	0							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CCGGTTGACACGTCCGGGACA	0.622000													22	44					0.000229342	0.000235894	0.608945	1	0
SNX30	401548	broad.mit.edu	37	9	115600917	115600917	+	Silent	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr9:115600917C>T	ENST00000374232.3	+	6	1118	c.954C>T	c.(952-954)gaC>gaT	p.D318D		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	318					cell communication|protein transport	cytoplasm	phosphatidylinositol binding			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TGACAGATGACATGACAGAAG	0.483000													38	98					0	0	0.827153	0	0
KMT2D	8085	broad.mit.edu	37	12	49438595	49438595	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr12:49438595G>C	ENST00000301067.7	-	19	4894	c.4895C>G	c.(4894-4896)tCa>tGa	p.S1632*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AAGGGCATCTGAGGGCTCAGA	0.607000													86	122					0	0	0.870114	0	0
GAB1	2549	broad.mit.edu	37	4	144359278	144359278	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr4:144359278G>A	ENST00000262995.4	+	4	1147	c.720G>A	c.(718-720)atG>atA	p.M240I	GAB1_ENST00000505913.1_Missense_Mutation_p.M137I|GAB1_ENST00000262994.4_Missense_Mutation_p.M240I	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	240					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					AGCAGCAAATGATATACGACT	0.448000													23	42					0	0	0.654019	0	0
BACE1	23621	broad.mit.edu	37	11	117164662	117164662	+	Silent	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr11:117164662G>C	ENST00000313005.6	-	4	1090	c.630C>G	c.(628-630)ctC>ctG	p.L210L	BACE1_ENST00000392937.6_Silent_p.L110L|BACE1_ENST00000428381.2_Intron|BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000528053.1_Silent_p.L210L|BACE1_ENST00000510630.1_Intron|BACE1_ENST00000513780.1_Intron|BACE1_ENST00000445823.2_Silent_p.L166L	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	210					beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		GCAGGGAGAAGAGGTTGGGAA	0.567000													57	73					0	0	0.870114	0	0
KMT2D	8085	broad.mit.edu	37	12	49425078	49425078	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr12:49425078C>G	ENST00000301067.7	-	39	13409	c.13410G>C	c.(13408-13410)aaG>aaC	p.K4470N		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GTTGCACATTCTTTGCCCGGA	0.617000													92	135					0	0	0.870114	0	0
FOS	2353	broad.mit.edu	37	14	75745827	75745827	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr14:75745827G>A	ENST00000303562.4	+	1	350		c.e1+1		FOS_ENST00000555242.1_Splice_Site|FOS_ENST00000556324.2_3'UTR|FOS_ENST00000535987.1_Splice_Site|FOS_ENST00000554617.1_Splice_Site	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog						cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		CAACGCGCAGGTAAGGCTGGC	0.692000													41	62					0	0	0.870114	0	0
HOXC11	3227	broad.mit.edu	37	12	54367330	54367330	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr12:54367330G>A	ENST00000546378.1	+	1	421	c.305G>A	c.(304-306)cGg>cAg	p.R102Q	HOTAIR_ENST00000455246.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.R102Q|HOTAIR_ENST00000424518.1_RNA			O43248	HXC11_HUMAN	homeobox C11	102					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						CTTATGCACCGGGAGTGCCTG	0.672000			T	NUP98	AML								205	294					0	0	0.870114	0	0
SCN10A	6336	broad.mit.edu	37	3	38739749	38739749	+	Silent	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr3:38739749G>A	ENST00000449082.2	-	27	4961	c.4962C>T	c.(4960-4962)ctC>ctT	p.L1654L		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1654					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TAATCTGGAAGAGGCACAGCA	0.582000													48	88					0	0	0.870114	0	0
AZIN1	51582	broad.mit.edu	37	8	103851004	103851004	+	Silent	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr8:103851004C>T	ENST00000337198.5	-	5	1580	c.417G>A	c.(415-417)ttG>ttA	p.L139L	AZIN1_ENST00000522311.1_5'UTR|AZIN1_ENST00000347770.4_Silent_p.L139L	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	139					polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			CAATTTTCTTCAATTCAATTT	0.328000													22	79					0	0	0.624587	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098953	178098953	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:178098953C>G	ENST00000397062.3	-	2	646	c.92G>C	c.(91-93)gGa>gCa	p.G31A	NFE2L2_ENST00000446151.2_Missense_Mutation_p.G15A|NFE2L2_ENST00000464747.1_Missense_Mutation_p.G15A|NFE2L2_ENST00000397063.4_Missense_Mutation_p.G15A|NFE2L2_ENST00000423513.1_Missense_Mutation_p.G15A	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	31					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G31A(5)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCGACTTACTCCAAGATCTAT	0.363000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			22	39					0	0	0.608945	0	0
MRPL14	64928	broad.mit.edu	37	6	44081613	44081613	+	Silent	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr6:44081613G>A	ENST00000372014.3	-	3	536	c.405C>T	c.(403-405)tcC>tcT	p.S135S		NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14	135					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			CCAGCACCTTGGAATACTCGC	0.552000													46	63					0	0	0.859065	0	0
ALOX12B	242	broad.mit.edu	37	17	7976982	7976982	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr17:7976982G>T	ENST00000319144.4	-	13	2008	c.1748C>A	c.(1747-1749)aCa>aAa	p.T583K	ALOX12B_ENST00000577351.1_Intron	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	583	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						TACCTGGCCTGTGTTGACAGC	0.572000										Multiple Myeloma(8;0.094)	OREG0024152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	63					2.20262e-25	2.46256e-25	0.769981	1	0
BRD2	6046	broad.mit.edu	37	6	32944408	32944408	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr6:32944408C>T	ENST00000395289.2	+	7	2496	c.895C>T	c.(895-897)Cca>Tca	p.P299S	BRD2_ENST00000449085.2_Missense_Mutation_p.P252S|BRD2_ENST00000374825.4_Missense_Mutation_p.P299S|BRD2_ENST00000443797.2_Missense_Mutation_p.P179S|BRD2_ENST00000374831.4_Missense_Mutation_p.P299S|BRD2_ENST00000395287.1_Missense_Mutation_p.P299S			P25440	BRD2_HUMAN	bromodomain containing 2	299					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						TCCTGGTTCTCCAGCTAGCCC	0.552000													82	141					0	0	0.870114	0	0
OLFM3	118427	broad.mit.edu	37	1	102302527	102302527	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:102302527C>T	ENST00000370103.4	-	2	337	c.124G>A	c.(124-126)Gat>Aat	p.D42N	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_5'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.D62N|OLFM3_ENST00000359814.3_Missense_Mutation_p.D62N	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	62						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CACCGCCCATCAGGATCCTGA	0.488000													36	39					0	0	0.796494	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482583	140482583	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr5:140482583G>A	ENST00000231130.2	+	1	2350	c.2350G>A	c.(2350-2352)Gag>Aag	p.E784K		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		784					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.E784K(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGGTTAGCGAGGCAAATCC	0.458000													105	187					0	0	0.870114	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27898484	27898484	+	Silent	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:27898484G>A	ENST00000326019.6	+	6	1713	c.1431G>A	c.(1429-1431)ctG>ctA	p.L477L		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	477						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					GGACTGGCCTGATTGAGAAGA	0.398000													30	61					0	0	0.729181	0	0
PROS1	5627	broad.mit.edu	37	3	93646147	93646147	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr3:93646147C>T	ENST00000394236.3	-	2	497	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	61	Gla.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTGCACAGTTCTTCGATGCAT	0.413000													31	75					0	0	0.740014	0	0
GPR157	80045	broad.mit.edu	37	1	9164616	9164616	+	Silent	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:9164616G>C	ENST00000377411.4	-	4	1012	c.870C>G	c.(868-870)ctC>ctG	p.L290L	GPR157_ENST00000414642.2_Silent_p.L225L	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	290						integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		AGAGAGAGAAGAGCCGAGTTC	0.612000													19	64					0	0	0.740014	0	0
TTN	7273	broad.mit.edu	37	2	179412928	179412928	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:179412928C>T	ENST00000589042.1	-	339	93649	c.93425G>A	c.(93424-93426)gGc>gAc	p.G31142D	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G22202D|TTN_ENST00000460472.2_Missense_Mutation_p.G22077D|TTN_ENST00000342992.6_Missense_Mutation_p.G28574D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G22269D|TTN_ENST00000591111.1_Missense_Mutation_p.G29501D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29501	Ig-like 139.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATCCGGCTGCCTCCATCGTG	0.498000													74	130					0	0	0.870114	0	0
C19orf80	55908	broad.mit.edu	37	19	11350372	11350372	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:11350372C>T	ENST00000252453.8	+	1	78	c.59C>T	c.(58-60)tCa>tTa	p.S20L	DOCK6_ENST00000294618.7_Intron|C19orf80_ENST00000591200.1_Intron	NM_018687.6	NP_061157.3	Q6UXH0	TD26_HUMAN	chromosome 19 open reading frame 80	20						extracellular region				NS(1)|breast(1)|endometrium(2)	4						CGGCCTGCCTCAGCGGCCCCC	0.642000													37	53					0	0	0.796494	0	0
CTNNA3	29119	broad.mit.edu	37	10	68381455	68381455	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr10:68381455G>A	ENST00000433211.2	-	10	1543	c.1369C>T	c.(1369-1371)Cca>Tca	p.P457S	CTNNA3_ENST00000373744.4_Missense_Mutation_p.P457S	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3						cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CATACCTGTGGACACAAGGTT	0.284000													11	25					0	0	0.387290	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815883	23815883	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr4:23815883C>G	ENST00000264867.2	-	8	1342	c.1223G>C	c.(1222-1224)aGa>aCa	p.R408T	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	408					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTCTAGTTGTCTAGAGTCTTG	0.448000													22	40					0	0	0.608945	0	0
CECR6	27439	broad.mit.edu	37	22	17600373	17600373	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr22:17600373G>A	ENST00000331437.3	-	1	1770	c.1645C>T	c.(1645-1647)Cag>Tag	p.Q549*	CECR6_ENST00000399875.1_Nonsense_Mutation_p.Q194*	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	549										haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		GAGCCTCCCTGAGGTGGTGGC	0.687000													8	20					0	0	0.335167	0	0
BAI1	575	broad.mit.edu	37	8	143565371	143565371	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr8:143565371G>C	ENST00000517894.1	+	12	3058	c.2164G>C	c.(2164-2166)Gag>Cag	p.E722Q	BAI1_ENST00000323289.5_Missense_Mutation_p.E722Q			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	722					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCTGTTGGCAGAGGAGAATCG	0.587000													93	461					0	0	0.870114	0	0
POLA2	23649	broad.mit.edu	37	11	65046238	65046238	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr11:65046238C>T	ENST00000265465.3	+	6	1030	c.499C>T	c.(499-501)Cga>Tga	p.R167*	POLA2_ENST00000541089.1_5'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	167					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	ACGAAGTAACCGAGGAGAAGT	0.453000													66	169					0	0	0.870114	0	0
GCC2	9648	broad.mit.edu	37	2	109103046	109103046	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:109103046C>T	ENST00000309863.6	+	16	4586	c.3872C>T	c.(3871-3873)aCg>aTg	p.T1291M		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1291					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						CACCAGCGTACGCTAAGTGCA	0.502000													40	43					0	0	0.812448	0	0
FGG	2266	broad.mit.edu	37	4	155530854	155530854	+	Silent	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr4:155530854C>T	ENST00000404648.3	-	6	833	c.594G>A	c.(592-594)ctG>ctA	p.L198L	FGG_ENST00000405164.1_Silent_p.L206L|FGG_ENST00000336098.3_Silent_p.L198L|FGG_ENST00000407946.1_Silent_p.L206L	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	198	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GGTTAGCTTTCAGAGGTTTAA	0.393000													36	76					0	0	0.796494	0	0
OR51S1	119692	broad.mit.edu	37	11	4870194	4870194	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr11:4870194A>T	ENST00000322101.2	-	1	320	c.245T>A	c.(244-246)gTc>gAc	p.V82D	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGGCAGTGACCAATCCAAT	0.547000													21	65					0	0	0.608945	0	0
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697000													31	51					0	0	0.804634	0	0
ABCC12	94160	broad.mit.edu	37	16	48177903	48177903	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr16:48177903C>T	ENST00000311303.3	-	2	538	c.193G>A	c.(193-195)Gtg>Atg	p.V65M	ABCC12_ENST00000416054.1_Missense_Mutation_p.V65M|ABCC12_ENST00000448542.1_Missense_Mutation_p.V65M	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	65						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TAGCCTTTCACCATCACCGGC	0.547000													38	65					0	0	0.788014	0	0
TMEM50B	757	broad.mit.edu	37	21	34823156	34823156	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr21:34823156T>C	ENST00000542230.2	-	7	660	c.446A>G	c.(445-447)aAa>aGa	p.K149R		NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN	transmembrane protein 50B	149						endoplasmic reticulum|integral to membrane|plasma membrane				breast(1)|kidney(1)|ovary(1)|skin(1)	4						TCTTCCAAATTTGTAGATCAG	0.348000													38	45					0	0	0.840704	0	0
POLK	51426	broad.mit.edu	37	5	74865308	74865308	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr5:74865308G>C	ENST00000241436.4	+	4	571	c.399G>C	c.(397-399)atG>atC	p.M133I	POLK_ENST00000352007.5_Missense_Mutation_p.M133I|POLK_ENST00000508526.1_Missense_Mutation_p.M133I|POLK_ENST00000504026.1_Missense_Mutation_p.M133I|POLK_ENST00000380481.3_Missense_Mutation_p.M43I|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000515295.1_Missense_Mutation_p.M133I	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	133	UmuC.				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TAGGATCAATGAGTATGCTGG	0.368000								DNA polymerases (catalytic subunits)					20	33					0	0	0.592651	0	0
EFEMP1	2202	broad.mit.edu	37	2	56108800	56108800	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:56108800G>T	ENST00000394555.2	-	5	1022	c.587C>A	c.(586-588)tCc>tAc	p.S196Y	EFEMP1_ENST00000355426.3_Missense_Mutation_p.S196Y|EFEMP1_ENST00000394554.1_Missense_Mutation_p.S196Y|EFEMP1_ENST00000424836.2_Missense_Mutation_p.S138Y	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	196	EGF-like 2; calcium-binding (Potential).				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACATGCAAAGGATCCCCGTAA	0.507000													27	48					7.76418e-22	8.52167e-22	0.693898	1	0
CNPY4	245812	broad.mit.edu	37	7	99722457	99722457	+	Silent	SNP	A	A	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr7:99722457A>G	ENST00000262932.3	+	6	825	c.693A>G	c.(691-693)ggA>ggG	p.G231G	RP11-506M12.1_ENST00000494221.1_RNA|CNPY4_ENST00000480692.1_3'UTR	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	231						extracellular region				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					aggaaggggGAGACAAGATGA	0.547000													181	260					0	0	0.870114	0	0
CDH15	1013	broad.mit.edu	37	16	89261395	89261395	+	Silent	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr16:89261395G>A	ENST00000289746.2	+	14	2342	c.2277G>A	c.(2275-2277)gaG>gaA	p.E759E		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	759					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		AGGGCGATGAGGACCAGGACT	0.657000													28	32					0	0	0.706142	0	0
ALG2	85365	broad.mit.edu	37	9	101984145	101984145	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr9:101984145G>A	ENST00000476832.1	-	1	93	c.32C>T	c.(31-33)tCg>tTg	p.S11L		NM_033087.3	NP_149078.1	Q9H553	ALG2_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	11			S -> P (in dbSNP:rs11545137).		dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				CTTGGGAACCGAGTCCCGTTC	0.726000													18	27					0	0	0.557998	0	0
ZADH2	284273	broad.mit.edu	37	18	72913894	72913894	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr18:72913894C>A	ENST00000322342.3	-	2	900	c.611G>T	c.(610-612)tGc>tTc	p.C204F	ZADH2_ENST00000537114.2_Missense_Mutation_p.C81F	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	204						peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		ATCAGAAGAGCAGGTTCCAAT	0.468000													324	838					1.47391e-114	1.75698e-114	0.870114	1	0
MB21D2	151963	broad.mit.edu	37	3	192516318	192516318	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr3:192516318C>G	ENST00000392452.2	-	2	1653	c.1333G>C	c.(1333-1335)Ggg>Cgg	p.G445R		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	445										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TTGGGGTCCCCTCCGTCAGAC	0.567000													69	217					0	0	0.870114	0	0
SP140	11262	broad.mit.edu	37	2	231113635	231113635	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:231113635G>A	ENST00000392045.3	+	9	1042	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	SP140_ENST00000417495.3_Missense_Mutation_p.E257K|SP140_ENST00000420434.3_Missense_Mutation_p.E310K|SP140_ENST00000343805.6_Missense_Mutation_p.E284K|SP140_ENST00000350136.5_Missense_Mutation_p.E240K|SP140_ENST00000486687.2_Missense_Mutation_p.E234K	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	310					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGTCACTAATGAAGGAGAACC	0.398000													30	66					0	0	0.740014	0	0
SLC25A19	60386	broad.mit.edu	37	17	73269536	73269536	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr17:73269536C>T	ENST00000402418.3	-	6	1868	c.959G>A	c.(958-960)cGc>cAc	p.R320H	SLC25A19_ENST00000416858.2_Missense_Mutation_p.R320H|RP11-649A18.12_ENST00000582668.1_RNA|SLC25A19_ENST00000442286.2_Missense_Mutation_p.R320H|RP11-649A18.12_ENST00000585075.1_RNA|SLC25A19_ENST00000375261.4_Missense_Mutation_p.R263H|SLC25A19_ENST00000580994.1_Missense_Mutation_p.R320H|SLC25A19_ENST00000320362.3_Missense_Mutation_p.R320H			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	320						integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			CTGCACTCAGCGCTGGCTGGC	0.567000													46	185					0	0	0.870114	0	0
CHD2	1106	broad.mit.edu	37	15	93563313	93563313	+	Missense_Mutation	SNP	G	G	T	rs61752830		TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr15:93563313G>T	ENST00000394196.4	+	38	6046	c.4978G>T	c.(4978-4980)Gac>Tac	p.D1660Y	CHD2_ENST00000557381.1_Missense_Mutation_p.D1660Y	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1660					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			ATGGGGAAGCGACAGGCACCA	0.512000													25	42					1.1804e-14	1.24983e-14	0.667858	1	0
TNFAIP3	7128	broad.mit.edu	37	6	138192400	138192400	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr6:138192400G>C	ENST00000237289.4	+	2	102	c.36G>C	c.(34-36)ttG>ttC	p.L12F		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	12					anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CTTTGTATTTGAGCAATATGC	0.388000			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""						OREG0031869	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	88	136					0	0	0.870114	0	0
TAF2	6873	broad.mit.edu	37	8	120807793	120807793	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr8:120807793C>A	ENST00000378164.2	-	9	1468	c.1170G>T	c.(1168-1170)gaG>gaT	p.E390D		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	390					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AATGGCGGTACTCATTAACAC	0.343000													17	74					8.60227e-14	9.00238e-14	0.500413	1	0
LILRP2	79166	broad.mit.edu	37	19	55220844	55220844	+	RNA	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:55220844C>T	ENST00000413439.1	+	0	833																											CCCACTCTCTCAGCCCTGCCG	0.532000													34	31					0	0	0.779181	0	0
SFRP5	6425	broad.mit.edu	37	10	99527601	99527601	+	Silent	SNP	G	G	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr10:99527601G>T	ENST00000266066.3	-	3	742	c.624C>A	c.(622-624)atC>atA	p.I208I		NM_003015.3	NP_003006.2	Q5T4F7	SFRP5_HUMAN	secreted frizzled-related protein 5	208	NTR.				apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception	cytoplasm|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			large_intestine(1)|lung(4)	5		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)		TGATCTCCTTGATGCGCATTT	0.542000													107	228					2.96211e-45	3.46221e-45	0.870114	1	0
CYP4A11	1579	broad.mit.edu	37	1	47407091	47407091	+	Silent	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:47407091C>G	ENST00000310638.4	-	1	46	c.15G>C	c.(13-15)gtG>gtC	p.V5V	CYP4A11_ENST00000462347.1_Silent_p.V5V|CYP4A11_ENST00000371904.4_Silent_p.V5V|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371905.1_Silent_p.V5V	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	5				V -> A (in Ref. 8; AA sequence).	long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TGGGGCTCAGCACAGAGACAC	0.587000													7	127					0	0	0.335167	0	0
C16orf91	283951	broad.mit.edu	37	16	1476162	1476162	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr16:1476162G>T	ENST00000310355.1	-	3	460	c.461C>A	c.(460-462)gCt>gAt	p.A154D				Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	127						integral to membrane				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GGACCTGGGAGCACCCACTGT	0.637000													43	270					2.59497e-14	2.73155e-14	0.834066	1	0
KCNT2	343450	broad.mit.edu	37	1	196434452	196434452	+	Silent	SNP	T	T	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:196434452T>A	ENST00000367433.5	-	8	710	c.609A>T	c.(607-609)atA>atT	p.I203I	KCNT2_ENST00000367431.4_Silent_p.I203I|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000294725.9_Silent_p.I203I|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Silent_p.I203I	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	203						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GTAATGTAGATATTAAAATCA	0.269000													5	68					0	0	0.217242	0	0
IMMP1L	196294	broad.mit.edu	37	11	31455050	31455050	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr11:31455050C>A	ENST00000278200.1	-	6	584	c.389G>T	c.(388-390)gGa>gTa	p.G130V	IMMP1L_ENST00000526776.1_Missense_Mutation_p.G58V|IMMP1L_ENST00000534812.1_Missense_Mutation_p.G21V|IMMP1L_ENST00000533642.1_Missense_Mutation_p.G21V|IMMP1L_ENST00000532287.1_Missense_Mutation_p.G130V	NM_144981.1	NP_659418.1	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)	130					proteolysis	mitochondrial inner membrane	serine-type peptidase activity			breast(1)|cervix(1)|large_intestine(1)|lung(4)	7	Lung SC(675;0.225)					TGGAATAGGTCCATAGCACCT	0.368000													36	56					7.04047e-22	7.82275e-22	0.812448	1	0
ZNF142	7701	broad.mit.edu	37	2	219503172	219503172	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:219503172G>A	ENST00000411696.2	-	9	5733	c.4954C>T	c.(4954-4956)Cag>Tag	p.Q1652*	ZNF142_ENST00000449707.1_Nonsense_Mutation_p.Q1652*			P52746	ZN142_HUMAN	zinc finger protein 142	1652					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCCACACCCTGGTTTGGGTCG	0.622000													30	66					0	0	0.788014	0	0
SYT1	6857	broad.mit.edu	37	12	79611344	79611344	+	Silent	SNP	C	C	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr12:79611344C>A	ENST00000261205.4	+	4	702	c.45C>A	c.(43-45)gtC>gtA	p.V15V	SYT1_ENST00000393240.3_Silent_p.V15V|SYT1_ENST00000457153.2_Silent_p.V15V|SYT1_ENST00000552744.1_Silent_p.V15V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	15					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CCCCGCCTGTCACCACTGTCG	0.517000													18	25					3.08376e-08	3.20854e-08	0.654019	1	0
SORCS1	114815	broad.mit.edu	37	10	108439408	108439408	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr10:108439408T>C	ENST00000263054.6	-	11	1652	c.1645A>G	c.(1645-1647)Agc>Ggc	p.S549G	SORCS1_ENST00000369698.1_Missense_Mutation_p.S84G|SORCS1_ENST00000344440.6_Missense_Mutation_p.S549G	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	549						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACTATGATGCTTGGAGCTGTG	0.413000													15	17					0	0	0.539581	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													6	66					0	0	0.278610	0	0
TTN	7273	broad.mit.edu	37	2	179413248	179413248	+	Silent	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:179413248C>T	ENST00000589042.1	-	339	93329	c.93105G>A	c.(93103-93105)ttG>ttA	p.L31035L	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.L22095L|TTN_ENST00000460472.2_Silent_p.L21970L|TTN_ENST00000342992.6_Silent_p.L28467L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.L22162L|TTN_ENST00000591111.1_Silent_p.L29394L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29394	Fibronectin type-III 126.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCCCACATCAATGTAGCAG	0.507000													99	175					0	0	0.870114	0	0
KMT2B	9757	broad.mit.edu	37	19	36223287	36223287	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:36223287C>T	ENST00000222270.7	+	28	5837	c.5837C>T	c.(5836-5838)tCa>tTa	p.S1946L	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.S1946L	NM_014727.1	NP_055542.1			lysine (K)-specific methyltransferase 2B																		CCTCCTACCTCAGTCGTCACA	0.677000													24	29					0	0	0.693898	0	0
SRCAP	10847	broad.mit.edu	37	16	30724116	30724116	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr16:30724116G>A	ENST00000262518.4	+	14	2495	c.2110G>A	c.(2110-2112)Gag>Aag	p.E704K	SRCAP_ENST00000395059.2_Missense_Mutation_p.E704K|SRCAP_ENST00000344771.4_Missense_Mutation_p.E704K	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	704	Helicase ATP-binding.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGCCCAGAAAGAGAGGAAGCT	0.463000													77	125					0	0	0.870114	0	0
TAS2R13	50838	broad.mit.edu	37	12	11061864	11061864	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr12:11061864C>G	ENST00000390677.2	-	1	297	c.34G>C	c.(34-36)Gta>Cta	p.V12L	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	12					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GCAATTATTACAAGAGTGAAG	0.388000													12	27					0	0	0.457914	0	0
PRAMEF18	391003	broad.mit.edu	37	1	13475073	13475073	+	Silent	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:13475073C>T	ENST00000376126.2	-	3	1055	c.1056G>A	c.(1054-1056)caG>caA	p.Q352Q		NM_001099850.1	NP_001093320.1	Q5VWM3	PRA18_HUMAN	PRAME family member 18	352										lung(2)|ovary(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAGAGGGTCTGAAGAGTGG	0.547000													145	223					0	0	0.870114	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144864168	144864168	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:144864168T>G	ENST00000369359.4	-	39	6373	c.6335A>C	c.(6334-6336)gAg>gCg	p.E2112A	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E2061A|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1976A|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E1976A|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1870A			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1976					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AAGACGTTCCTCCCTGAAATG	0.478000			T	PDGFRB	MPD								106	453					0	0	0.870114	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23814419	23814419	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr4:23814419C>T	ENST00000264867.2	-	10	2089	c.1970G>A	c.(1969-1971)cGa>cAa	p.R657Q	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	657					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CTCAGACTCTCGCTTCTCATA	0.453000													68	97					0	0	0.870114	0	0
MBOAT7	79143	broad.mit.edu	37	19	54677813	54677813	+	Silent	SNP	A	A	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:54677813A>C	ENST00000245615.1	-	8	1824	c.1344T>G	c.(1342-1344)ggT>ggG	p.G448G	MBOAT7_ENST00000431666.2_Silent_p.G375G|MBOAT7_ENST00000338624.6_Silent_p.G375G	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	448					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGCTGCCCCCACCTAAAGCCA	0.662000													10	105					0	0	0.479597	0	0
NPAP1	23742	broad.mit.edu	37	15	24921378	24921378	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr15:24921378A>C	ENST00000329468.2	+	1	838	c.364A>C	c.(364-366)Atg>Ctg	p.M122L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TCCCAGCCGCATGTTCACTCT	0.647000													65	129					0	0	0.870114	0	0
PBLD	64081	broad.mit.edu	37	10	70048339	70048339	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr10:70048339G>C	ENST00000358769.2	-	8	794	c.592C>G	c.(592-594)Ctt>Gtt	p.L198V	PBLD_ENST00000336578.1_Missense_Mutation_p.L165V|PBLD_ENST00000432941.1_Missense_Mutation_p.L198V|PBLD_ENST00000309049.4_Missense_Mutation_p.L198V|PBLD_ENST00000495025.2_Missense_Mutation_p.L198V	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	198					biosynthetic process		isomerase activity			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						TTAAGGGTAAGAATAAGCCCT	0.468000													58	61					0	0	0.870114	0	0
TTN	7273	broad.mit.edu	37	2	179412881	179412881	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:179412881C>G	ENST00000589042.1	-	339	93696	c.93472G>C	c.(93472-93474)Gac>Cac	p.D31158H	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D22218H|TTN_ENST00000460472.2_Missense_Mutation_p.D22093H|TTN_ENST00000342992.6_Missense_Mutation_p.D28590H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D22285H|TTN_ENST00000591111.1_Missense_Mutation_p.D29517H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29517	Fibronectin type-III 127.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCCAGAAGTCAGATCCCTTT	0.468000													88	163					0	0	0.870114	0	0
SVIL	6840	broad.mit.edu	37	10	29752434	29752434	+	Silent	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr10:29752434G>C	ENST00000375398.2	-	37	6713	c.6264C>G	c.(6262-6264)ctC>ctG	p.L2088L	PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|SVIL_ENST00000535393.1_Silent_p.L1002L|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000375400.3_Silent_p.L1662L|SVIL_ENST00000355867.4_Silent_p.L2088L			O95425	SVIL_HUMAN	supervillin	2088					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGCAGTACTGGAGCACAGTCT	0.617000													12	43					0	0	0.435327	0	0
NIF3L1	60491	broad.mit.edu	37	2	201756682	201756682	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:201756682G>A	ENST00000409020.1	+	2	310	c.16G>A	c.(16-18)Gta>Ata	p.V6I	NIF3L1_ENST00000409357.1_Missense_Mutation_p.V6I|NIF3L1_ENST00000409588.1_Missense_Mutation_p.V6I|NIF3L1_ENST00000359683.4_Intron|NIF3L1_ENST00000416651.1_Missense_Mutation_p.V6I			Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	6					positive regulation of transcription, DNA-dependent		transcription factor binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						GTCATCTTGCGTACGCCCAGT	0.438000													15	24					0	0	0.457914	0	0
UBE3C	9690	broad.mit.edu	37	7	157060438	157060438	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr7:157060438G>C	ENST00000348165.5	+	23	3601	c.3241G>C	c.(3241-3243)Gag>Cag	p.E1081Q		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	1081	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CGCTGGCTTTGAGCTGAGCTG	0.547000													104	130					0	0	0.870114	0	0
MAGI2	9863	broad.mit.edu	37	7	77797280	77797280	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr7:77797280C>T	ENST00000354212.4	-	15	2802	c.2549G>A	c.(2548-2550)cGc>cAc	p.R850H	MAGI2_ENST00000419488.1_Missense_Mutation_p.R836H|MAGI2_ENST00000522391.1_Missense_Mutation_p.R850H	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	850	PDZ 4.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTGCCCATTGCGGGCTGCGTG	0.547000													82	145					0	0	0.870114	0	0
ZNF250	58500	broad.mit.edu	37	8	146108082	146108082	+	Silent	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr8:146108082C>G	ENST00000292579.7	-	6	617	c.501G>C	c.(499-501)ctG>ctC	p.L167L	ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Silent_p.L162L|ZNF250_ENST00000342660.6_Intron	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		AGTTTGGACTCAGACAGAAGC	0.478000													110	371					0	0	0.870114	0	0
PCF11	51585	broad.mit.edu	37	11	82877720	82877720	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr11:82877720C>T	ENST00000298281.4	+	5	2233	c.1781C>T	c.(1780-1782)gCc>gTc	p.A594V		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	594					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TCCAAGTCTGCCAAAAGATGG	0.358000													43	78					0	0	0.840704	0	0
GGA3	23163	broad.mit.edu	37	17	73235616	73235616	+	Silent	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr17:73235616G>A	ENST00000245541.6	-	14	1836	c.1620C>T	c.(1618-1620)ctC>ctT	p.L540L	GGA3_ENST00000582717.1_Silent_p.L468L|GGA3_ENST00000578348.1_Silent_p.L418L|GGA3_ENST00000582486.1_Silent_p.L468L|GGA3_ENST00000351904.7_Silent_p.L507L|GGA3_ENST00000538886.1_Silent_p.L418L	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	540	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			TGGTGGGGATGAGAGGGGAGG	0.667000											OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	24					0	0	0.278610	0	0
TTN	7273	broad.mit.edu	37	2	179412782	179412782	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:179412782C>T	ENST00000589042.1	-	339	93795	c.93571G>A	c.(93571-93573)Gat>Aat	p.D31191N	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D22251N|TTN_ENST00000460472.2_Missense_Mutation_p.D22126N|TTN_ENST00000342992.6_Missense_Mutation_p.D28623N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D22318N|TTN_ENST00000591111.1_Missense_Mutation_p.D29550N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29550	Fibronectin type-III 127.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGCCAGCATCATTCTTGGCC	0.458000													34	68					0	0	0.750413	0	0
LMOD2	442721	broad.mit.edu	37	7	123302716	123302716	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr7:123302716G>A	ENST00000458573.2	+	2	1233	c.1076G>A	c.(1075-1077)cGt>cAt	p.R359H	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	359						cytoskeleton	actin binding|tropomyosin binding	p.R359H(2)									AGGCAAAAACGTTTGCAGGAG	0.463000													58	77					0	0	0.870114	0	0
KIAA0930	23313	broad.mit.edu	37	22	45601515	45601515	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr22:45601515G>T	ENST00000336156.5	-	4	475	c.410C>A	c.(409-411)tCt>tAt	p.S137Y	KIAA0930_ENST00000443310.3_Missense_Mutation_p.S119Y|KIAA0930_ENST00000251993.7_Missense_Mutation_p.S142Y|KIAA0930_ENST00000391627.2_Missense_Mutation_p.S103Y	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930								protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						GCTCACCTGAGATTTCTTCTT	0.597000													41	81					7.63091e-17	8.1276e-17	0.834066	1	0
SF3B1	23451	broad.mit.edu	37	2	198267484	198267484	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:198267484G>A	ENST00000335508.6	-	14	1964	c.1873C>T	c.(1873-1875)Cgt>Tgt	p.R625C		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.R625C(5)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTTGTGTTACGGACATACTCA	0.433000			Mis		myelodysplastic syndrome								30	49					0	0	0.740014	0	0
SCN4A	6329	broad.mit.edu	37	17	62020234	62020234	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr17:62020234C>T	ENST00000435607.1	-	23	4316	c.4240G>A	c.(4240-4242)Gtt>Att	p.V1414I	SCN4A_ENST00000578147.1_Missense_Mutation_p.V1414I	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1414					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TTCCAGCCAACGGTGAAGTAG	0.572000													63	190					0	0	0.870114	0	0
FAM171A1	221061	broad.mit.edu	37	10	15326047	15326047	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr10:15326047G>A	ENST00000378116.4	-	2	161	c.155C>T	c.(154-156)gCg>gTg	p.A52V		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	52						integral to membrane		p.A52V(1)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CTCGATGAGCGCATCTGCTAC	0.552000													33	45					0	0	0.779181	0	0
UBR5	51366	broad.mit.edu	37	8	103277452	103277452	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr8:103277452C>G	ENST00000520539.1	-	53	8083	c.7477G>C	c.(7477-7479)Gat>Cat	p.D2493H	UBR5_ENST00000518205.1_Missense_Mutation_p.D221H|UBR5_ENST00000521922.1_Missense_Mutation_p.D2486H|UBR5_ENST00000220959.4_Missense_Mutation_p.D2492H	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2493	Asp/Glu-rich (acidic).|HECT.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCTGTATCATCTAAATCCATA	0.423000													78	38					0	0	0.870114	0	0
TNR	7143	broad.mit.edu	37	1	175324643	175324643	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:175324643C>T	ENST00000367674.2	-	17	3953	c.3245G>A	c.(3244-3246)cGc>cAc	p.R1082H	TNR_ENST00000263525.2_Missense_Mutation_p.R1082H			Q92752	TENR_HUMAN	tenascin R		Fibronectin type-III 9.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCTCACCTTGCGGCTTCCATC	0.512000													35	66					0	0	0.804634	0	0
ZC3H13	23091	broad.mit.edu	37	13	46539484	46539484	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr13:46539484C>T	ENST00000242848.4	-	16	4750	c.4402G>A	c.(4402-4404)Gaa>Aaa	p.E1468K	ZC3H13_ENST00000282007.3_Missense_Mutation_p.E1469K|ZC3H13_ENST00000378921.2_Missense_Mutation_p.E424K			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1468							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|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;4.18e-05)		TCATCTAGTTCGTCATCACTG	0.438000													9	124					0	0	0.307466	0	0
IL5RA	3568	broad.mit.edu	37	3	3144421	3144421	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr3:3144421G>C	ENST00000446632.2	-	4	740	c.166C>G	c.(166-168)Caa>Gaa	p.Q56E	IL5RA_ENST00000256452.3_Missense_Mutation_p.Q56E|IL5RA_ENST00000383846.1_Missense_Mutation_p.Q56E|IL5RA_ENST00000418488.2_Missense_Mutation_p.Q56E|IL5RA_ENST00000430514.2_Missense_Mutation_p.Q56E|IL5RA_ENST00000456302.1_Missense_Mutation_p.Q56E|IL5RA_ENST00000445864.2_Missense_Mutation_p.Q56E|IL5RA_ENST00000438560.1_Missense_Mutation_p.Q56E|IL5RA_ENST00000311981.8_Missense_Mutation_p.Q56E	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	56					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CTTTGCTCTTGATCAGGATTT	0.333000													20	27					0	0	0.575678	0	0
MTFP1	51537	broad.mit.edu	37	22	30822725	30822725	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr22:30822725G>A	ENST00000439838.1	+	7	604	c.604G>A	c.(604-606)Gag>Aag	p.E202K	MTFP1_ENST00000266263.5_Missense_Mutation_p.E30K|MTFP1_ENST00000407550.3_Missense_Mutation_p.E30K|MTFP1_ENST00000355143.4_Missense_Mutation_p.E30K																							TGAGGTGGGCGAGGCTTTCCG	0.602000											OREG0026460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	73					0	0	0.870114	0	0
ERF	2077	broad.mit.edu	37	19	42752674	42752674	+	Silent	SNP	C	C	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:42752674C>A	ENST00000222329.4	-	4	1747	c.1590G>T	c.(1588-1590)gtG>gtT	p.V530V	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Silent_p.V455V	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	530					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GGTCAGAGCTCACCCGCCTTG	0.711000													48	72					2.68985e-26	3.06439e-26	0.870114	1	0
CROCCP3	114819	broad.mit.edu	37	1	16809717	16809735	+	RNA	DEL	CCACTGATGTTATGCCCAG	CCACTGATGTTATGCCCAG	-	rs142465067	by1000genomes	TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:16809717_16809735delCCACTGATGTTATGCCCAG	ENST00000263511.4	-	0	2004					NR_023386.1																						GCATAAGGCTCCACTGATGTTATGCCCAGCCGCCGACTT	0.516													3	5	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:27105930_27105931insG	ENST00000324856.7	+	20	5912_5913	c.5541_5542insG	c.(5542-5544)gggfs	p.G1848fs	ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.G176fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.G1631fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.G1465fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1848					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.G1848fs*6(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								70	100	---	---	---	---					
POTEI	653269	broad.mit.edu	37	2	131258174	131258174	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:131258174delT	ENST00000451531.2	-	4	1282	c.852delA	c.(850-852)aaafs	p.K284fs		NM_001277406.1	NP_001264335.1			POTE ankyrin domain family, member I											lung(11)	11						CCACTTGCTGTTTTTGCTCAT	0.343													26	179	---	---	---	---					
POTEJ	653781	broad.mit.edu	37	2	131377655	131377655	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:131377655delA	ENST00000409602.1	+	4	789	c.737delA	c.(736-738)caafs	p.Q246fs		NM_001277083.1	NP_001264012.1			POTE ankyrin domain family, member J											lung(5)	5						GTACATGAGCAAAAACAGCAA	0.333													4	8	---	---	---	---					
TBP	6908	broad.mit.edu	37	6	170871013	170871014	+	In_Frame_Ins	INS	-	-	CAG	rs72320253		TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr6:170871013_170871014insCAG	ENST00000392092.2	+	3	468_469	c.189_190insCAG	c.(190-192)cag>CAGcag	p.64_64Q>QQ	TBP_ENST00000540980.1_In_Frame_Ins_p.44_44Q>QQ|TBP_ENST00000230354.6_In_Frame_Ins_p.64_64Q>QQ	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	64	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q63_Q64insQ(1)|p.Q63Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacaacaacagcagcagca	0.550													34	83	---	---	---	---					
TRGC2	6967	broad.mit.edu	37	7	38284884	38284885	+	RNA	INS	-	-	GG	rs138091320	by1000genomes	TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr7:38284884_38284885insGG	ENST00000436911.2	-	0	330																											TTATTTGTCAAGgtgtgtgtgt	0.391													13	218	---	---	---	---					
KMT2C	58508	broad.mit.edu	37	7	151873966	151873967	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr7:151873966_151873967insAG	ENST00000355193.2	-	38	8789_8790	c.8571_8572insCT	c.(8569-8574)tctgctfs	p.A2858fs	KMT2C_ENST00000262189.6_Frame_Shift_Ins_p.A2858fs					lysine (K)-specific methyltransferase 2C																		TCTGAGTGAGCAGAAGCCTGTG	0.411													48	118	---	---	---	---					
OSR2	116039	broad.mit.edu	37	8	99961401	99961402	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr8:99961401_99961402insG	ENST00000297565.4	+	2	717_718	c.221_222insG	c.(220-225)gcggcgfs	p.A75fs	OSR2_ENST00000522510.1_Frame_Shift_Ins_p.A75fs|OSR2_ENST00000435298.2_Frame_Shift_Ins_p.A75fs|OSR2_ENST00000457907.2_Frame_Shift_Ins_p.A196fs|OSR2_ENST00000523368.1_Frame_Shift_Ins_p.A75fs	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	75					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			GAGATGGCGGCGGCGCAGGGCC	0.649													8	510	---	---	---	---					
LURAP1L	286343	broad.mit.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	-	GGCGGCGGC	rs3833707	by1000genomes	TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr9:12775861_12775862insGGCGGCGGC	ENST00000319264.3	+	1	842_843	c.147_148insGGCGGCGGC	c.(148-150)ggc>GGCGGCGGCggc	p.50_50G>GGGG	RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN	leucine rich adaptor protein 1-like	50	Gly-rich.							p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688													10	11	---	---	---	---					
SLC24A1	9187	broad.mit.edu	37	15	65918024	65918025	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr15:65918024_65918025insT	ENST00000261892.6	+	2	1893_1894	c.1606_1607insT	c.(1606-1608)attfs	p.I536fs	SLC24A1_ENST00000537259.1_Frame_Shift_Ins_p.I536fs|SLC24A1_ENST00000399033.4_Frame_Shift_Ins_p.I536fs|SLC24A1_ENST00000544319.2_Frame_Shift_Ins_p.I536fs|SLC24A1_ENST00000546330.1_Frame_Shift_Ins_p.I536fs|SLC24A1_ENST00000339868.6_Frame_Shift_Ins_p.I536fs	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	536					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGTGTTCAACATTCTCTTTGTC	0.525													69	148	---	---	---	---					
CNOT1	23019	broad.mit.edu	37	16	58619315	58619316	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr16:58619315_58619316delCT	ENST00000317147.5	-	8	1064_1065	c.732_733delAG	c.(730-735)ggagggfs	p.GG244fs	CNOT1_ENST00000441024.2_Frame_Shift_Del_p.GG244fs|CNOT1_ENST00000569240.1_Frame_Shift_Del_p.GG244fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	244					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTAGCTACCCCTCCGGAATCAG	0.465													62	169	---	---	---	---					
AFG3L1P	172	broad.mit.edu	37	16	90053811	90053811	+	RNA	DEL	A	A	-			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr16:90053811delA	ENST00000437774.1	+	0	731					NR_003226.1																						gaggaggtggaggaggtggag	0.637													2	4	---	---	---	---					
VEZF1	7716	broad.mit.edu	37	17	56056586	56056587	+	In_Frame_Ins	INS	-	-	TGT			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr17:56056586_56056587insTGT	ENST00000584396.1	-	5	1125_1126	c.1037_1038insACA	c.(1036-1038)cat>caACAt	p.345_346insQ	VEZF1_ENST00000581208.1_In_Frame_Ins_p.354_355insQ			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	354	Poly-Gln.				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						AGCTTGTCACAtgttgttgttg	0.475													7	479	---	---	---	---					
DOCK6	57572	broad.mit.edu	37	19	11348960	11348960	+	Frame_Shift_Del	DEL	G	G	-	rs12609039	by1000genomes	TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:11348960delG	ENST00000294618.7	-	15	1675	c.1664delC	c.(1663-1665)ccgfs	p.P555fs	C19orf80_ENST00000591200.1_Intron	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	555	DHR-1.		P -> L (in dbSNP:rs12609039).		blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GAGGCTGTGCGGGTACACGTA	0.647													22	48	---	---	---	---					
FFAR2	2867	broad.mit.edu	37	19	35940788	35940790	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:35940788_35940790delCTG	ENST00000599180.2	+	2	252_254	c.172_174delCTG	c.(172-174)ctgdel	p.L62del	FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2							integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGACCTCCTCCTGCTGCTGCTGC	0.645													7	135	---	---	---	---					
