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
WASF3	10810	broad.mit.edu	37	13	27259959	27259959	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr13:27259959G>A	ENST00000361042.4	+	10	1702	c.1477G>A	c.(1477-1479)Gac>Aac	p.D493N	WASF3_ENST00000335327.5_Missense_Mutation_p.D496N			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	496					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CTCAGAGTTCGACGAGAACGA	0.592000													18	21					0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156883853	156883853	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:156883853G>A	ENST00000338302.3	+	23	3148	c.2923G>A	c.(2923-2925)Gac>Aac	p.D975N	PEAR1_ENST00000292357.7_Missense_Mutation_p.D975N			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	975	Pro-rich.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCACAGAGAGACAGTGGCAC	0.627000													8	18					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216251612	216251612	+	Silent	SNP	A	A	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:216251612A>G	ENST00000366943.2	-	27	5777	c.5391T>C	c.(5389-5391)aaT>aaC	p.N1797N	USH2A_ENST00000307340.3_Silent_p.N1797N|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1797	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCACTTTCCATTACAATAGG	0.418000										HNSCC(13;0.011)			12	357					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64395059	64395059	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr6:64395059C>G	ENST00000262043.3	+	4	1776	c.1436C>G	c.(1435-1437)tCt>tGt	p.S479C	PHF3_ENST00000509330.1_Missense_Mutation_p.S479C|PHF3_ENST00000393387.1_Missense_Mutation_p.S479C			Q92576	PHF3_HUMAN	PHD finger protein 3	479					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGTAGCGTTTCTTACTTAGAG	0.358000													26	44					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91861942	91861942	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:91861942G>T	ENST00000370425.3	-	3	190	c.92C>A	c.(91-93)tCa>tAa	p.S31*	HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	31							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CCAATCCAATGACTTTTCATT	0.303000													29	55					7.26314e-15	8.32604e-15	1	1	0
SPAG17	200162	broad.mit.edu	37	1	118527381	118527381	+	Silent	SNP	A	A	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:118527381A>G	ENST00000336338.5	-	41	5759	c.5694T>C	c.(5692-5694)aaT>aaC	p.N1898N		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1898						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCATTAGGTAATTCTGTGTTG	0.313000													15	29					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72211886	72211886	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr8:72211886T>C	ENST00000340726.3	-	8	1265	c.626A>G	c.(625-627)aAt>aGt	p.N209S	EYA1_ENST00000303824.7_Missense_Mutation_p.N203S|EYA1_ENST00000388742.4_Missense_Mutation_p.N209S|EYA1_ENST00000388740.3_Missense_Mutation_p.N176S|EYA1_ENST00000419131.1_Missense_Mutation_p.N204S|EYA1_ENST00000388743.2_Missense_Mutation_p.N208S|EYA1_ENST00000388741.2_Missense_Mutation_p.N175S	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	209					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CTGTGAACTATTAAATCCAGA	0.274000													8	71					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2966213	2966213	+	Silent	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr8:2966213G>A	ENST00000520002.1	-	45	7224	c.6669C>T	c.(6667-6669)ctC>ctT	p.L2223L	CSMD1_ENST00000602557.1_Silent_p.L2223L|CSMD1_ENST00000400186.3_Silent_p.L2223L|CSMD1_ENST00000602723.1_Silent_p.L2223L|CSMD1_ENST00000537824.1_Silent_p.L2222L|CSMD1_ENST00000542608.1_Silent_p.L2222L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2223	CUB 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACGCCGTTTCGAGGGCTGTGT	0.498000													7	4					0	0	1	0	0
CLPB	81570	broad.mit.edu	37	11	72040797	72040797	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr11:72040797G>A	ENST00000294053.3	-	7	1090	c.917C>T	c.(916-918)gCc>gTc	p.A306V	CLPB_ENST00000543042.1_Missense_Mutation_p.A105V|CLPB_ENST00000340729.5_Missense_Mutation_p.A247V|CLPB_ENST00000538039.1_Missense_Mutation_p.A276V|CLPB_ENST00000437826.2_Missense_Mutation_p.A261V	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	306					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CCCTTCTCGGGCATAATCCAA	0.512000													7	221					0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64497248	64497248	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr11:64497248C>A	ENST00000377494.1	-	13	2499	c.1577G>T	c.(1576-1578)gGc>gTc	p.G526V	RASGRP2_ENST00000377497.3_Missense_Mutation_p.G526V|RASGRP2_ENST00000394432.3_Missense_Mutation_p.G526V|RASGRP2_ENST00000354024.3_Missense_Mutation_p.G526V			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	526					platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCATTTGAGGCCCTGCTTGTA	0.502000													28	39					3.73148e-12	4.15099e-12	1	1	0
KALRN	8997	broad.mit.edu	37	3	124103731	124103731	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr3:124103731G>C	ENST00000360013.3	+	11	1931	c.1804G>C	c.(1804-1806)Gag>Cag	p.E602Q	KALRN_ENST00000460856.1_Missense_Mutation_p.E602Q|KALRN_ENST00000240874.3_Missense_Mutation_p.E602Q	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	602					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGAAGCAGCAGAGCAGTTGGC	0.582000													27	58					0	0	1	0	0
CYBB	1536	broad.mit.edu	37	X	37660565	37660565	+	Silent	SNP	G	G	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chrX:37660565G>C	ENST00000378588.4	+	8	928	c.861G>C	c.(859-861)cgG>cgC	p.R287R	CYBB_ENST00000492288.1_3'UTR|CYBB_ENST00000545017.1_Silent_p.R255R|CYBB_ENST00000536160.1_Silent_p.R20R|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	287	FAD-binding FR-type.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						GGTTGGTGCGGTTTTGGCGAT	0.408000													5	96					0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46722368	46722368	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr22:46722368C>G	ENST00000454366.1	+	9	1753	c.1541C>G	c.(1540-1542)tCt>tGt	p.S514C		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	495					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AGACGCTCATCTGGGCCAGCA	0.572000													24	40					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2140462	2140462	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr16:2140462G>A	ENST00000262304.4	-	45	12476	c.12268C>T	c.(12268-12270)Ctc>Ttc	p.L4090F	PKD1_ENST00000423118.1_Missense_Mutation_p.L4089F	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4090					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGTGCCCAGAGCCCCACACAC	0.692000													5	17					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43173746	43173746	+	Splice_Site	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr6:43173746C>T	ENST00000252050.4	+	25	4879	c.4793_splice	c.e25-1	p.H1599_splice	CUL9_ENST00000372647.2_Splice_Site_p.H1599_splice|CUL9_ENST00000354495.3_Splice_Site_p.H1489_splice	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1599					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GTGCTGCAGGCATTATATGGC	0.627000													15	82					0	0	1	0	0
SREBF1	6720	broad.mit.edu	37	17	17722357	17722357	+	Silent	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr17:17722357G>A	ENST00000355815.4	-	6	1297	c.1128C>T	c.(1126-1128)ctC>ctT	p.L376L	SREBF1_ENST00000395757.1_Silent_p.L92L|SREBF1_ENST00000435530.2_Silent_p.L346L|SREBF1_ENST00000261646.5_Silent_p.L346L|SREBF1_ENST00000338854.5_Silent_p.L346L	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	346	Interaction with LMNA (By similarity).|Leucine-zipper.				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CCAGATCCTTGAGCTCAATGA	0.602000													16	38					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100836120	100836120	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr8:100836120G>C	ENST00000358544.2	+	51	9430	c.9319G>C	c.(9319-9321)Gac>Cac	p.D3107H	VPS13B_ENST00000357162.2_Missense_Mutation_p.D3082H|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3107					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCAGATTGAAGACAAGACTAC	0.318000													5	190					0	0	1	0	0
ZNF333	84449	broad.mit.edu	37	19	14829049	14829049	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr19:14829049C>T	ENST00000292530.6	+	12	1001	c.910C>T	c.(910-912)Cag>Tag	p.Q304*	ZNF333_ENST00000536363.1_Nonsense_Mutation_p.Q195*|ZNF333_ENST00000540689.2_Intron	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						GGAGCAACCTCAGCCTGGAGA	0.383000													15	31					0	0	1	0	0
OMA1	115209	broad.mit.edu	37	1	59002191	59002191	+	Silent	SNP	A	A	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:59002191A>G	ENST00000371226.3	-	3	836	c.723T>C	c.(721-723)taT>taC	p.Y241Y	OMA1_ENST00000467063.1_5'UTR|DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Silent_p.Y241Y	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	241					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TTACTGCTTCATATTCCAGTT	0.318000													12	12					0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46761204	46761204	+	Splice_Site	SNP	G	G	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr6:46761204G>T	ENST00000230588.4	+	1	78	c.69_splice	c.e1+1	p.P23_splice		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	23					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CAGCTGTACCGGTAAGTCGAG	0.353000													18	202					8.10497e-08	8.56031e-08	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48550759	48550759	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr7:48550759A>T	ENST00000435803.1	+	51	13628	c.13604A>T	c.(13603-13605)aAc>aTc	p.N4535I	ABCA13_ENST00000544596.1_Missense_Mutation_p.N265I	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4535					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCCGCAAGAACTTGGCAGCC	0.453000													6	36					0	0	1	0	0
CDKL4	344387	broad.mit.edu	37	2	39406359	39406359	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr2:39406359C>T	ENST00000378803.1	-	8	895	c.896G>A	c.(895-897)cGt>cAt	p.R299H	CDKL4_ENST00000395035.3_Missense_Mutation_p.R299H	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	299						cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TCCTTCATTACGTGCTTTTCT	0.378000													41	94					0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102891533	102891533	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr14:102891533G>A	ENST00000359520.7	+	6	1082	c.856G>A	c.(856-858)Gag>Aag	p.E286K	TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Missense_Mutation_p.E286K	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	286							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CAGCTTACCTGAGAGGCACCT	0.483000													38	90					0	0	1	0	0
ZFP2	80108	broad.mit.edu	37	5	178359312	178359312	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr5:178359312A>C	ENST00000361362.2	+	5	1528	c.998A>C	c.(997-999)aAa>aCa	p.K333T	ZFP2_ENST00000503510.2_Missense_Mutation_p.K333T|ZFP2_ENST00000523286.1_Missense_Mutation_p.K333T|ZFP2_ENST00000520301.1_Missense_Mutation_p.K333T	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GAGTGTGGAAAAGCTTTCAGT	0.378000													31	50					0	0	1	0	0
CYSLTR2	57105	broad.mit.edu	37	13	49281765	49281765	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr13:49281765T>C	ENST00000282018.3	+	1	815	c.812T>C	c.(811-813)tTg>tCg	p.L271S		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	271					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	ACCGTCCACTTGACGACATGG	0.498000													26	44					0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	224009053	224009053	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:224009053T>C	ENST00000343537.7	-	2	335	c.44A>G	c.(43-45)tAt>tGt	p.Y15C	TP53BP2_ENST00000391878.2_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	9					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GTTACTGAGATACACGGTAAG	0.408000													60	181					0	0	1	0	0
LMOD3	56203	broad.mit.edu	37	3	69168368	69168368	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr3:69168368G>A	ENST00000420581.2	-	2	1317	c.1138C>T	c.(1138-1140)Ccg>Tcg	p.P380S	LMOD3_ENST00000489031.1_Missense_Mutation_p.P380S|LMOD3_ENST00000475434.1_Missense_Mutation_p.P380S	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	380						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		CTGGGACCCGGAAGCTCAAAA	0.473000													46	16					0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890130	55890130	+	Silent	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr11:55890130C>T	ENST00000313472.3	+	1	282	c.282C>T	c.(280-282)ttC>ttT	p.F94F		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ATATTTCCTTCACGGGCTGCT	0.428000													43	261					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127609536	127609536	+	Silent	SNP	A	A	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr5:127609536A>G	ENST00000508053.1	-	67	8810	c.7836T>C	c.(7834-7836)tgT>tgC	p.C2612C	FBN2_ENST00000262464.4_Silent_p.C2612C			P35556	FBN2_HUMAN	fibrillin 2	2612	EGF-like 44; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACTAACCTTCACAGTTCAGTC	0.368000													4	46					0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63995647	63995647	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr6:63995647C>T	ENST00000370658.5	-	3	208	c.175G>A	c.(175-177)Gac>Aac	p.D59N	LGSN_ENST00000370657.4_Missense_Mutation_p.D59N	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	59					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TGACTGCTGTCCCTCATGCAA	0.403000													11	34					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197171917	197171917	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr2:197171917C>T	ENST00000260983.2	-	12	2808	c.2626G>A	c.(2626-2628)Gag>Aag	p.E876K	HECW2_ENST00000409111.1_Missense_Mutation_p.E520K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	876	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GTATTTTCCTCAGGCCTCTCA	0.438000													60	18					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118624083	118624083	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:118624083G>C	ENST00000336338.5	-	14	2010	c.1945C>G	c.(1945-1947)Caa>Gaa	p.Q649E		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	649						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATGACATATTGCTGCCTTATC	0.418000													27	88					0	0	1	0	0
ZNF790	388536	broad.mit.edu	37	19	37309378	37309378	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr19:37309378T>A	ENST00000356725.4	-	5	1988	c.1868A>T	c.(1867-1869)gAg>gTg	p.E623V	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	623					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAATGCTTTCTCAAAATCTTT	0.323000													26	29					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138607857	138607857	+	Silent	SNP	T	T	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr6:138607857T>C	ENST00000251691.4	+	16	2755	c.2589T>C	c.(2587-2589)taT>taC	p.Y863Y		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	863					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TTGCTCGCTATATTCTGGTGG	0.493000													61	26					0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7413079	7413079	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr7:7413079A>G	ENST00000399429.3	-	32	2598	c.2458T>C	c.(2458-2460)Ttt>Ctt	p.F820L		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	820	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GTCTTCACAAAATTTTTAATG	0.483000													52	83					0	0	1	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043145	71043145	+	Silent	SNP	T	T	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr2:71043145T>C	ENST00000272367.2	-	4	1444	c.1368A>G	c.(1366-1368)gaA>gaG	p.E456E	CLEC4F_ENST00000426626.1_Silent_p.E456E	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	456					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TTTGTAGCTGTTCCTGTGAAG	0.507000													35	44					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48713402	48713402	+	Silent	SNP	A	A	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr8:48713402A>T	ENST00000314191.2	-	72	10121	c.10065T>A	c.(10063-10065)gcT>gcA	p.A3355A	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.A3355A	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3356	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGATTCTTCTAGCCTTGTCCT	0.463000								Non-homologous end-joining					11	13					0	0	1	0	0
STOML2	30968	broad.mit.edu	37	9	35103079	35103079	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr9:35103079C>T	ENST00000356493.5	-	1	75	c.13G>A	c.(13-15)Gcg>Acg	p.A5T	STOML2_ENST00000452248.2_Missense_Mutation_p.A5T	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	5						cytoskeleton	receptor binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCCCGCGCCGCGCGCGCCAGC	0.642000													26	97					0	0	1	0	0
ZNF175	7728	broad.mit.edu	37	19	52091225	52091225	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr19:52091225C>A	ENST00000262259.2	+	5	1999	c.1641C>A	c.(1639-1641)agC>agA	p.S547R	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	547					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CAATACTCAGCATGCATCAGA	0.423000													19	22					1.15919e-05	1.18439e-05	1	1	0
RYR2	6262	broad.mit.edu	37	1	237780681	237780681	+	Silent	SNP	A	A	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:237780681A>G	ENST00000366574.2	+	38	6128	c.5811A>G	c.(5809-5811)caA>caG	p.Q1937Q	RYR2_ENST00000542537.1_Silent_p.Q1921Q|RYR2_ENST00000360064.6_Silent_p.Q1935Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1937	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTAAGCTCCAAGACAATCAAC	0.473000													13	40					0	0	1	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751223	140751223	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr5:140751223C>T	ENST00000576222.1	+	1	1393	c.1262C>T	c.(1261-1263)aCg>aTg	p.T421M	PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACAATGTGACGATCACAGCT	0.498000													8	103					0	0	1	0	0
POT1	25913	broad.mit.edu	37	7	124503531	124503531	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr7:124503531G>A	ENST00000357628.3	-	8	1017	c.419C>T	c.(418-420)gCa>gTa	p.A140V	POT1_ENST00000393329.1_Missense_Mutation_p.A9V	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	140					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						ATGAGTAGATGCCCAAACACG	0.438000													39	52					0	0	1	0	0
TDRD9	122402	broad.mit.edu	37	14	104470653	104470653	+	Missense_Mutation	SNP	A	A	G	rs148458755		TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr14:104470653A>G	ENST00000409874.4	+	14	1610	c.1562A>G	c.(1561-1563)cAt>cGt	p.H521R	TDRD9_ENST00000339063.5_Missense_Mutation_p.H521R	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	521	Helicase C-terminal.				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				ATCCCTGATCATGTTGTTCCT	0.393000													4	51					0	0	1	0	0
APPL2	55198	broad.mit.edu	37	12	105601790	105601790	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr12:105601790C>T	ENST00000258530.3	-	7	658	c.433G>A	c.(433-435)Gca>Aca	p.A145T	APPL2_ENST00000539978.2_Missense_Mutation_p.A102T|APPL2_ENST00000551662.1_Missense_Mutation_p.A151T|APPL2_ENST00000549573.1_5'UTR	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	145	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTGTATTTTGCCATTGAGAGG	0.438000													4	123					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240939500	240939500	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:240939500G>T	ENST00000366565.1	-	18	1808	c.1427C>A	c.(1426-1428)aCg>aAg	p.T476K	RGS7_ENST00000366563.1_3'UTR|RGS7_ENST00000446183.2_3'UTR|RGS7_ENST00000331110.7_Intron|RGS7_ENST00000366562.4_Missense_Mutation_p.T458K|RGS7_ENST00000366564.1_Missense_Mutation_p.T458K|RGS7_ENST00000348120.2_3'UTR	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	0					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CCTCTTGGACGTGAGAGATTT	0.383000													18	63					1.00905e-13	1.14278e-13	1	1	0
RELN	5649	broad.mit.edu	37	7	103180650	103180650	+	Silent	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr7:103180650G>A	ENST00000424685.2	-	44	7083	c.6924C>T	c.(6922-6924)atC>atT	p.I2308I	RELN_ENST00000343529.5_Silent_p.I2308I|RELN_ENST00000428762.1_Silent_p.I2308I			P78509	RELN_HUMAN	reelin	2308					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGACCTGATCGATAACCCAGG	0.488000													5	58					0	0	1	0	0
ZBTB6	10773	broad.mit.edu	37	9	125673511	125673511	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr9:125673511C>T	ENST00000373659.3	-	2	929	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						TAACTTCCTTCAGTATTCTCA	0.443000													8	42					0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74595945	74595945	+	Silent	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr2:74595945C>T	ENST00000361874.3	-	16	2081	c.1764G>A	c.(1762-1764)ctG>ctA	p.L588L	DCTN1_ENST00000409438.1_Silent_p.L454L|DCTN1_ENST00000409868.1_Silent_p.L571L|DCTN1_ENST00000407639.2_Silent_p.L454L|DCTN1_ENST00000409240.1_Silent_p.L551L|DCTN1_ENST00000394003.3_Silent_p.L581L|DCTN1_ENST00000409567.3_Silent_p.L568L	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	588					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TGAAGGCTGTCAGCAGGGACA	0.562000													23	98					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126086293	126086293	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr7:126086293C>T	ENST00000339582.2	-	10	3372	c.2564G>A	c.(2563-2565)aGc>aAc	p.S855N	GRM8_ENST00000358373.3_Missense_Mutation_p.S855N|GRM8_ENST00000444921.2_Missense_Mutation_p.S855N			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	855					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGCCTTGAAGCTCCTCTTGCG	0.418000										HNSCC(24;0.065)			4	89					0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505522	159505522	+	Silent	SNP	G	G	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:159505522G>T	ENST00000334857.2	-	1	320	c.276C>A	c.(274-276)atC>atA	p.I92I		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CTGCCAAGGAGATAGGTTGGT	0.443000													29	107					5.45727e-16	6.37246e-16	1	1	0
SLC4A8	9498	broad.mit.edu	37	12	51863567	51863567	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr12:51863567C>T	ENST00000453097.2	+	12	1736	c.1519C>T	c.(1519-1521)Cgc>Tgc	p.R507C	SLC4A8_ENST00000394856.1_Missense_Mutation_p.R454C|SLC4A8_ENST00000535225.2_Missense_Mutation_p.R454C|SLC4A8_ENST00000514353.3_Missense_Mutation_p.R454C|SLC4A8_ENST00000358657.3_Missense_Mutation_p.R534C|SLC4A8_ENST00000546663.1_3'UTR	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	507					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	p.R454C(1)|p.R507C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CACTGAGGGACGCATAGTAAG	0.488000													43	52					0	0	1	0	0
KCNA2	3737	broad.mit.edu	37	1	111147389	111147389	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:111147389C>T	ENST00000485317.1	-	3	689	c.16G>A	c.(16-18)Gga>Aga	p.G6R	KCNA2_ENST00000316361.4_Missense_Mutation_p.G6R|KCNA2_ENST00000369770.3_Missense_Mutation_p.G6R|KCNA2_ENST00000440270.1_Missense_Mutation_p.G6R|KCNA2_ENST00000525120.1_Intron			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	6						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		GCTGGGTCTCCGGTGGCCACT	0.612000													19	130					0	0	1	0	0
PPP1R17	10842	broad.mit.edu	37	7	31746831	31746831	+	Silent	SNP	C	C	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr7:31746831C>G	ENST00000342032.3	+	5	1030	c.402C>G	c.(400-402)ctC>ctG	p.L134L	PPP1R17_ENST00000409146.3_Silent_p.L83L|PPP1R17_ENST00000498609.1_3'UTR	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN	protein phosphatase 1, regulatory subunit 17	134					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction											TGACATTGCTCAGGGACGAGA	0.423000													15	22					0	0	1	0	0
RXRB	6257	broad.mit.edu	37	6	33165642	33165642	+	Silent	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr6:33165642G>A	ENST00000374680.3	-	4	928	c.717C>T	c.(715-717)taC>taT	p.Y239Y	RXRB_ENST00000374685.4_Silent_p.Y239Y|RXRB_ENST00000413614.2_Silent_p.Y143Y|RXRB_ENST00000544186.1_Silent_p.Y49Y	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	239					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CCCGGCAAGAGTATGTAAGGT	0.552000													15	48					0	0	1	0	0
HLA-DPB1	3115	broad.mit.edu	37	6	33052779	33052779	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr6:33052779C>A	ENST00000418931.2	+	3	533	c.417C>A	c.(415-417)caC>caA	p.H139Q		NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	139	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						TGCAGCACCACAACCTGCTTG	0.512000													14	80					3.52763e-06	3.62402e-06	1	1	0
TNFRSF1A	7132	broad.mit.edu	37	12	6443336	6443336	+	Silent	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr12:6443336C>T	ENST00000162749.2	-	2	413	c.114G>A	c.(112-114)gaG>gaA	p.E38E	TNFRSF1A_ENST00000366159.4_Silent_p.E38E|TNFRSF1A_ENST00000437813.3_5'UTR|TNFRSF1A_ENST00000540022.1_Silent_p.E38E	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	38					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						TATCTCTCTTCTCCCTGTCCC	0.502000													55	58					0	0	1	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62490338	62490338	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr11:62490338T>C	ENST00000301785.5	-	5	1121	c.929A>G	c.(928-930)gAg>gGg	p.E310G	RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.E310G	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	310	B30.2/SPRY.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GAGAGAGACCTCTGTGCAGCC	0.428000													19	29					0	0	1	0	0
KANSL1L	151050	broad.mit.edu	37	2	210905062	210905062	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr2:210905062T>G	ENST00000452086.1	-	8	2318	c.2111A>C	c.(2110-2112)aAa>aCa	p.K704T	KANSL1L_ENST00000418791.1_Intron|KANSL1L_ENST00000457374.1_Missense_Mutation_p.K704T|KANSL1L_ENST00000281772.9_Intron|AC007038.7_ENST00000452057.1_RNA			A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	0																	ttctTAGATTTTATTTTTCTT	0.264000													9	7					0	0	1	0	0
CAMK1D	57118	broad.mit.edu	37	10	12870861	12870861	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr10:12870861C>T	ENST00000378847.3	+	11	1470	c.1133C>T	c.(1132-1134)aCg>aTg	p.T378M		NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	378						calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.T378M(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		ACCACTGTGACGGCAGTGCAC	0.667000													18	9					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562743	140562743	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr5:140562743G>T	ENST00000361016.2	+	1	1764	c.609G>T	c.(607-609)gaG>gaT	p.E203D		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		203	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGATCGGGAGGAGGAGCCTC	0.498000													19	41					1.33834e-09	1.43776e-09	1	1	0
NOTCH1	4851	broad.mit.edu	37	9	139412381	139412381	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr9:139412381G>T	ENST00000277541.6	-	8	1339	c.1264C>A	c.(1264-1266)Ccc>Acc	p.P422T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	422	EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.P422S(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCTCGCAGGGGTTGGCACCT	0.667000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			19	10					6.33239e-15	7.30361e-15	1	1	0
ASH1L	55870	broad.mit.edu	37	1	155447732	155447732	+	Silent	SNP	C	C	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:155447732C>A	ENST00000368346.3	-	3	5568	c.4929G>T	c.(4927-4929)cgG>cgT	p.R1643R	ASH1L_ENST00000392403.3_Silent_p.R1643R			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1643	Ser-rich.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTCTGTGAAGCCGATTTAGTG	0.443000													81	71					5.29152e-50	6.41811e-50	1	1	0
ASPSCR1	79058	broad.mit.edu	37	17	79954550	79954550	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr17:79954550G>T	ENST00000306729.7	+	7	858	c.761G>T	c.(760-762)gGc>gTc	p.G254V	ASPSCR1_ENST00000580534.1_Missense_Mutation_p.G177V|ASPSCR1_ENST00000306739.4_Missense_Mutation_p.G254V	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	254							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			AGACTGGGGGGCCCTCCTGGG	0.632000			T	TFE3	alveolar soft part sarcoma								52	18					1.46357e-32	1.76379e-32	1	1	0
FRMPD1	22844	broad.mit.edu	37	9	37740302	37740302	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr9:37740302G>A	ENST00000539465.1	+	15	2370	c.1777G>A	c.(1777-1779)Gcc>Acc	p.A593T	FRMPD1_ENST00000377765.3_Missense_Mutation_p.A593T|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Missense_Mutation_p.A462T|FRMPD1_ENST00000536622.1_Missense_Mutation_p.A415T			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	593						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GTCCGACTCAGCCAACACTGA	0.647000													22	123					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57111704	57111704	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr16:57111704G>A	ENST00000262510.6	+	42	5218	c.4993G>A	c.(4993-4995)Gag>Aag	p.E1665K	NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000539144.1_Missense_Mutation_p.E1636K|NLRC5_ENST00000308149.7_Missense_Mutation_p.E1636K	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1665					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CAGGCGCCTGGAGGAGTTGAT	0.667000													24	14					0	0	1	0	0
RAVER1	125950	broad.mit.edu	37	19	10434205	10434205	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr19:10434205G>A	ENST00000293677.6	-	4	926	c.845C>T	c.(844-846)gCg>gTg	p.A282V		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	265	RRM 3.					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CTCCAGCACCGCGAAGCCCTT	0.682000													21	30					0	0	1	0	0
GALNT18	374378	broad.mit.edu	37	11	11454266	11454266	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr11:11454266G>A	ENST00000227756.4	-	3	908	c.497C>T	c.(496-498)gCg>gTg	p.A166V		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		CACTGAAAGCGCTTCATTGAC	0.537000													19	7					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A	rs145494190	by1000genomes	TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3													p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493000													3	27					0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2113555	2113555	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr12:2113555C>G	ENST00000280665.6	-	1	122	c.43G>C	c.(43-45)Gac>Cac	p.D15H	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	15					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			AGGCTGATGTCGCGCCCCTTT	0.652000													16	29					0	0	1	0	0
PTGIR	5739	broad.mit.edu	37	19	47127071	47127071	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr19:47127071G>T	ENST00000291294.2	-	2	545	c.412C>A	c.(412-414)Ctg>Atg	p.L138M	PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000596260.1_Missense_Mutation_p.L138M|PTGIR_ENST00000594275.1_Intron	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	138					cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	GGCAGCGCCAGGCGGGCGCAG	0.701000													11	11					3.07112e-06	3.18989e-06	1	1	0
MUC2	4583	broad.mit.edu	37	11	1093367	1093367	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr11:1093367C>T	ENST00000441003.2	+	30	5213	c.5186C>T	c.(5185-5187)aCg>aTg	p.T1729M	MUC2_ENST00000359061.5_Missense_Mutation_p.T1696M|MUC2_ENST00000333592.6_Missense_Mutation_p.T17M|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1720	Approximate repeats.					inner mucus layer|outer mucus layer	protein binding	p.T1696M(1)|p.T1729M(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	accaccactacggtgacccca	0.647000													2	0					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3426096	3426096	+	RNA	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr11:3426096C>T	ENST00000529482.1	+	0	845																											AAAGGGCCTCCGAGGGAGTAT	0.602000													3	46					0	0	1	0	0
OR2D3	120775	broad.mit.edu	37	11	6942440	6942440	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr11:6942440C>T	ENST00000317834.3	+	1	236	c.208C>T	c.(208-210)Cgc>Tgc	p.R70C		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCTGGATTCTCGCCTTCACAC	0.428000													31	21					0	0	1	0	0
C3orf58	205428	broad.mit.edu	37	3	143708593	143708593	+	Silent	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr3:143708593G>A	ENST00000315691.3	+	3	1738	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	C3orf58_ENST00000441925.2_Silent_p.E163E|C3orf58_ENST00000495414.1_Silent_p.E192E|C3orf58_ENST00000493396.1_Intron	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	401						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGCTGGATGAGTGTGCCAACC	0.507000													16	61					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193128809	193128809	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr3:193128809G>C	ENST00000342695.4	-	28	3581	c.3259C>G	c.(3259-3261)Cta>Gta	p.L1087V	ATP13A4_ENST00000392443.3_Missense_Mutation_p.L1068V|ATP13A4_ENST00000400270.2_Missense_Mutation_p.L103V|ATP13A4_ENST00000482964.1_5'UTR	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1087					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TCAGCAAATAGAATGAATAGA	0.299000													24	164					0	0	1	0	0
HIF1A	3091	broad.mit.edu	37	14	62199180	62199180	+	Missense_Mutation	SNP	G	G	A	rs61755644		TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr14:62199180G>A	ENST00000394997.1	+	7	1086	c.821G>A	c.(820-822)cGc>cAc	p.R274H	HIF1A_ENST00000337138.4_Missense_Mutation_p.R273H|HIF1A_ENST00000557538.1_Missense_Mutation_p.R214H|HIF1A_ENST00000323441.6_Missense_Mutation_p.R273H|HIF1A_ENST00000539097.1_Missense_Mutation_p.R297H|HIF1A-AS2_ENST00000554254.1_lincRNA			Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	273	Interaction with TSGA10 (By similarity).|PAS 2.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		CTTTTAGGCCGCTCAATTTAT	0.323000													5	273					0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50223340	50223340	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr3:50223340T>G	ENST00000002829.3	+	16	2090	c.1606T>G	c.(1606-1608)Tca>Gca	p.S536A	SEMA3F_ENST00000413852.1_Missense_Mutation_p.S437A|SEMA3F_ENST00000434342.1_Missense_Mutation_p.S505A	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	536	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CTACGTGGCGTCAGCCGTGGG	0.647000													58	20					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51255250	51255250	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr2:51255250C>G	ENST00000404971.1	-	2	1501	c.162G>C	c.(160-162)atG>atC	p.M54I	NRXN1_ENST00000405472.3_Missense_Mutation_p.M54I|NRXN1_ENST00000405581.1_Missense_Mutation_p.M54I|NRXN1_ENST00000406316.2_Missense_Mutation_p.M54I|NRXN1_ENST00000402717.3_Missense_Mutation_p.M54I|NRXN1_ENST00000401669.2_Missense_Mutation_p.M54I|NRXN1_ENST00000406859.3_Missense_Mutation_p.M54I	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	54	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCTGGAAGCTCATCTCGCTCT	0.682000													3	15					0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31289198	31289198	+	Silent	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr22:31289198C>T	ENST00000332585.6	+	9	2063	c.1959C>T	c.(1957-1959)ttC>ttT	p.F653F	OSBP2_ENST00000446658.2_Silent_p.F652F|OSBP2_ENST00000401475.1_Silent_p.F286F|OSBP2_ENST00000407373.1_Silent_p.F480F|OSBP2_ENST00000535268.1_Silent_p.F197F|OSBP2_ENST00000437268.2_Silent_p.F395F|OSBP2_ENST00000403222.3_Silent_p.F487F|OSBP2_ENST00000496575.1_Intron|OSBP2_ENST00000382310.3_Silent_p.F604F	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	653					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CCAGCAAGTTCCGGGGAAAAT	0.582000													10	42					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13864598	13864598	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr5:13864598G>A	ENST00000265104.4	-	28	4608	c.4504C>T	c.(4504-4506)Ctc>Ttc	p.L1502F	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1502	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGCCCGGTGAGGGTGGTTATC	0.463000									Kartagener syndrome				13	59					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84683407	84683407	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr15:84683407G>A	ENST00000286744.5	+	24	4311	c.4087G>A	c.(4087-4089)Gga>Aga	p.G1363R	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G1363R	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1363	Ig-like C2-type 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGAAAATGAAGGAACCTACGT	0.428000													30	37					0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170626766	170626766	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr5:170626766G>C	ENST00000523189.1	+	19	2295	c.2131G>C	c.(2131-2133)Gaa>Caa	p.E711Q	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	711					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	p.E711*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTTAAACAAGAAGATGTAAA	0.343000			T	TRD@	ALL								12	86					0	0	1	0	0
PM20D1	148811	broad.mit.edu	37	1	205801816	205801816	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:205801816C>T	ENST00000367136.4	-	11	1239	c.1195G>A	c.(1195-1197)Gtc>Atc	p.V399I	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	399						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GAAGGGCTGACGGGGAGGGGG	0.537000													25	63					0	0	1	0	0
TFE3	7030	broad.mit.edu	37	X	48887896	48887896	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chrX:48887896G>C	ENST00000315869.7	-	10	1760	c.1501C>G	c.(1501-1503)Ctg>Gtg	p.L501V	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	501					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TGCAGGTCCAGAAGGGCATCT	0.672000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								15	35					0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140266930	140266930	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr7:140266930C>T	ENST00000275884.6	-	8	2152	c.1735G>A	c.(1735-1737)Ggg>Agg	p.G579R	DENND2A_ENST00000537639.1_Missense_Mutation_p.G579R|DENND2A_ENST00000492720.1_Missense_Mutation_p.G579R|DENND2A_ENST00000496613.1_Missense_Mutation_p.G579R			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	579	UDENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TAGGCAGCCCCGGCCTGCTTC	0.582000													7	12					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182360528	182360528	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr2:182360528T>G	ENST00000397033.2	+	14	1834	c.1404T>G	c.(1402-1404)atT>atG	p.I468M		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	468					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CTGTAGTAATTGTTGACGCTT	0.353000													17	90					0	0	1	0	0
ALDH2	217	broad.mit.edu	37	12	112221026	112221026	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr12:112221026G>A	ENST00000261733.2	+	3	345	c.284G>A	c.(283-285)cGc>cAc	p.R95H	ALDH2_ENST00000416293.3_Intron|RP11-162P23.2_ENST00000546840.2_Missense_Mutation_p.A92T	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	95					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	CCTTGGCGCCGCATGGACGCA	0.637000			T	HMGA2	leiomyoma								5	151					0	0	1	0	0
HIST1H1D	3007	broad.mit.edu	37	6	26235027	26235027	+	Silent	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr6:26235027G>A	ENST00000244534.5	-	1	189	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	45	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CTGCCTTGGTGATAAGCTCAG	0.542000													73	157					0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131761636	131761636	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr10:131761636C>A	ENST00000368648.3	-	2	358	c.286G>T	c.(286-288)Gag>Tag	p.E96*	EBF3_ENST00000355311.5_Nonsense_Mutation_p.E96*	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	96					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CTTACTTTCTCTTTCTCCACA	0.582000													22	49					9.57634e-11	1.04672e-10	1	1	0
TNFAIP6	7130	broad.mit.edu	37	2	152236028	152236028	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr2:152236028G>T	ENST00000243347.3	+	6	890	c.815G>T	c.(814-816)gGa>gTa	p.G272V		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	272					cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		TTTTTAGCTGGAAGATTTAGC	0.308000													9	73					0.00448238	0.00453058	1	1	0
ZNF704	619279	broad.mit.edu	37	8	81555345	81555345	+	Missense_Mutation	SNP	G	G	A	rs139476385	byFrequency	TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr8:81555345G>A	ENST00000327835.3	-	8	1283	c.1052C>T	c.(1051-1053)cCg>cTg	p.P351L		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	351						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TGTGCCCACCGGATGATGTGT	0.527000													4	23					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111474739	111474739	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr7:111474739C>A	ENST00000428084.1	-	26	3012	c.2740G>T	c.(2740-2742)Gag>Tag	p.E914*	DOCK4_ENST00000437633.1_Nonsense_Mutation_p.E914*			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	914					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GCAACAAACTCCCCCTAAGTT	0.333000													3	1					0.184627	0.184627	1	1	0
GP2	2813	broad.mit.edu	37	16	20337725	20337725	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr16:20337725C>A	ENST00000302555.5	-	2	178	c.29G>T	c.(28-30)gGc>gTc	p.G10V	GP2_ENST00000341642.5_Missense_Mutation_p.G10V|GP2_ENST00000381360.5_Missense_Mutation_p.G10V|GP2_ENST00000381362.4_Missense_Mutation_p.G10V			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	10						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GAGGCCAGAGCCCACCATCCT	0.522000													9	55					2.74318e-10	2.98103e-10	1	1	0
OR5F1	338674	broad.mit.edu	37	11	55761712	55761712	+	Silent	SNP	C	C	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr11:55761712C>A	ENST00000278409.1	-	1	389	c.390G>T	c.(388-390)ctG>ctT	p.L130L		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AGGAGTAAAGCAGCGGGCGAC	0.507000													24	51					5.35356e-11	5.88578e-11	1	1	0
PHC2	1912	broad.mit.edu	37	1	33836668	33836668	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:33836668T>C	ENST00000257118.5	-	3	414	c.361A>G	c.(361-363)Agc>Ggc	p.S121G	PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000431992.1_Missense_Mutation_p.S121G|PHC2_ENST00000419414.2_Missense_Mutation_p.S121G	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	121					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCTGAAGTGCTTCCTTGTCTA	0.562000													45	83					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53908088	53908088	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr15:53908088A>C	ENST00000396328.1	-	15	2554	c.2315T>G	c.(2314-2316)aTg>aGg	p.M772R	WDR72_ENST00000559418.1_Missense_Mutation_p.M782R|WDR72_ENST00000557913.1_Missense_Mutation_p.M769R|WDR72_ENST00000360509.5_Missense_Mutation_p.M772R	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	772										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GGAGATCTTCATTTTCTTCTG	0.413000													50	70					0	0	1	0	0
NR2F1	7025	broad.mit.edu	37	5	92929485	92929485	+	Silent	SNP	C	C	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr5:92929485C>A	ENST00000327111.3	+	3	2896	c.1209C>A	c.(1207-1209)atC>atA	p.I403I	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	403					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		AAACTCTCATCCGCGATATGT	0.587000													55	37					1.27334e-21	1.51511e-21	1	1	0
PAQR7	164091	broad.mit.edu	37	1	26189512	26189512	+	Silent	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:26189512C>T	ENST00000374296.3	-	2	1485	c.819G>A	c.(817-819)caG>caA	p.Q273Q	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	273					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		GTTGGTGGCCCTGCCCGAAGA	0.597000													17	37					0	0	1	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28734098	28734098	+	RNA	SNP	C	C	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr14:28734098C>G	ENST00000550043.1	+	0	503																											TGAAGAAAAACTCAGATTGGA	0.463000													103	80					0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114141800	114141800	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chrX:114141800G>C	ENST00000276198.1	+	6	1927	c.1199G>C	c.(1198-1200)aGa>aCa	p.R400T	HTR2C_ENST00000371951.1_Missense_Mutation_p.R400T|HTR2C_ENST00000371950.3_3'UTR	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	400					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	CAGATTCCAAGAGTTGCCGCC	0.453000													26	52					0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45234324	45234324	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr17:45234324C>T	ENST00000066544.3	-	7	890	c.797G>A	c.(796-798)cGa>cAa	p.R266Q	CDC27_ENST00000446365.2_Missense_Mutation_p.R205Q|CDC27_ENST00000531206.1_Missense_Mutation_p.R266Q|CDC27_ENST00000527547.1_Missense_Mutation_p.R266Q	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	266					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TAATAAACTTCGACCAGTTTT	0.358000													3	51					0	0	1	0	0
MIR4485	100616263	broad.mit.edu	37	MT	2690	2690	+	RNA	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chrM:2690G>A	ENST00000387347.2	+	0	1020					NR_039705.1																						attgacctgcccgtgaagagg	0.443000													43	4					0	0	1	0	0
RARS2	57038	broad.mit.edu	37	6	88229385	88229385	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr6:88229385T>A	ENST00000369536.5	-	14	1198	c.1153A>T	c.(1153-1155)Act>Tct	p.T385S		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	385					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		CCTCTTCGAGTCTTCATTCCC	0.403000													6	101					0	0	1	0	0
PTPN4	5775	broad.mit.edu	37	2	120702750	120702750	+	Silent	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr2:120702750G>A	ENST00000263708.2	+	16	2220	c.1449G>A	c.(1447-1449)tcG>tcA	p.S483S	PTPN4_ENST00000544261.1_Silent_p.S116S	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	483						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ATTCACATTCGCAACAAGATC	0.368000													22	49					0	0	1	0	0
MFSD1	64747	broad.mit.edu	37	3	158539845	158539845	+	Silent	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr3:158539845C>T	ENST00000415822.2	+	11	1281	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	MFSD1_ENST00000392813.4_Silent_p.I341I|MFSD1_ENST00000264266.8_Silent_p.I331I	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	331					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGAAGAACATCATCTGGGTTC	0.483000													23	61					0	0	1	0	0
BAG3	9531	broad.mit.edu	37	10	121429550	121429550	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr10:121429550G>A	ENST00000369085.3	+	2	674	c.368G>A	c.(367-369)cGa>cAa	p.R123Q		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	123					anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		CAGCGATTCCGAACTGAGGCG	0.607000													10	80					0	0	1	0	0
MED25	81857	broad.mit.edu	37	19	50339143	50339143	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr19:50339143C>T	ENST00000312865.6	+	16	1959	c.1906C>T	c.(1906-1908)Cgg>Tgg	p.R636W	MED25_ENST00000538643.1_Missense_Mutation_p.R423W	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	636	Interaction with RARA.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		ACCCATCCTTCGGCCCCAGAA	0.687000													8	32					0	0	1	0	0
ACTN3	89	broad.mit.edu	37	11	66322664	66322664	+	RNA	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr11:66322664C>T	ENST00000513398.1	+	0	718				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						TCATCGACTACGCCAAACTGC	0.627000													15	36					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105160838	105160838	+	Silent	SNP	C	C	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr8:105160838C>G	ENST00000436393.2	+	23	3391	c.3150C>G	c.(3148-3150)gtC>gtG	p.V1050V	RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000262231.10_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	485					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CTGACAGTGTCTTTACATCCA	0.368000										HNSCC(12;0.0054)			25	2					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42393503	42393503	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr13:42393503G>A	ENST00000379310.3	-	15	1788	c.1720C>T	c.(1720-1722)Ccc>Tcc	p.P574S	VWA8_ENST00000281496.6_Missense_Mutation_p.P574S	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		CTGAAGGAGGGATGGATAGGA	0.373000													23	24					0	0	1	0	0
PPARD	5467	broad.mit.edu	37	6	35389701	35389701	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr6:35389701C>G	ENST00000311565.4	+	6	739	c.390C>G	c.(388-390)ttC>ttG	p.F130L	PPARD_ENST00000360694.3_Missense_Mutation_p.F130L|PPARD_ENST00000448077.2_Missense_Mutation_p.F91L|PPARD_ENST00000418635.2_Intron|PPARD_ENST00000444397.1_Missense_Mutation_p.F130L|PPARD_ENST00000540939.1_Missense_Mutation_p.F27L|PPARD_ENST00000337400.2_Missense_Mutation_p.F130L	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	130					apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	ACTGCCGCTTCCAGAAGTGCC	0.572000													8	47					0	0	1	0	0
BEX5	340542	broad.mit.edu	37	X	101408955	101408955	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chrX:101408955T>A	ENST00000543160.1	-	3	584	c.283A>T	c.(283-285)Ata>Tta	p.I95L	BEX5_ENST00000333643.3_Missense_Mutation_p.I95L	NM_001159560.1	NP_001153032.1	Q5H9J7	BEX5_HUMAN	brain expressed, X-linked 5	95						cytoplasm				large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						GGGTCCCCTATAAGAATGCGC	0.418000													29	5					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582909	179582909	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr2:179582909G>T	ENST00000589042.1	-	86	25048	c.24824C>A	c.(24823-24825)gCa>gAa	p.A8275E	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A7031E|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.A7958E|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7958	Ig-like 65.						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)			TCCAATGACTGCTTCCACATG	0.408000													32	31					8.16721e-17	9.59647e-17	1	1	0
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr17:7578271T>A	ENST00000420246.2	-	6	710	c.578A>T	c.(577-579)cAt>cTt	p.H193L	TP53_ENST00000359597.4_Missense_Mutation_p.H193L|TP53_ENST00000413465.2_Missense_Mutation_p.H193L|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.H193L|TP53_ENST00000445888.2_Missense_Mutation_p.H193L|TP53_ENST00000455263.2_Missense_Mutation_p.H193L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCGGATAAGATGCTGAGGAGG	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			33	15					0	0	1	0	0
CHMP2A	27243	broad.mit.edu	37	19	59063292	59063292	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr19:59063292G>T	ENST00000600118.1	-	4	947	c.522C>A	c.(520-522)agC>agA	p.S174R	CHMP2A_ENST00000601220.1_Missense_Mutation_p.S174R|CHMP2A_ENST00000312547.2_Missense_Mutation_p.S174R			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	174	Interaction with VPS4B.				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CATCTGTTAGGCTAAGTCCCA	0.562000													25	39					1.77063e-15	2.05481e-15	1	1	0
KRT34	3885	broad.mit.edu	37	17	39535858	39535858	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr17:39535858A>C	ENST00000394001.1	-	4	870	c.840T>G	c.(838-840)atT>atG	p.I280M		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	280	Coil 2.|Rod.		I -> T (in dbSNP:rs2239710).		epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CCCTGCGGTTAATTTCCACCA	0.607000													17	40					0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35144299	35144299	+	RNA	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr7:35144299G>A	ENST00000436258.1	-	0	1767																											CATGTGCAGCGTCAAAAACAT	0.358000													29	37					0	0	1	0	0
ERAP2	64167	broad.mit.edu	37	5	96215743	96215743	+	Silent	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr5:96215743G>A	ENST00000437043.3	+	2	1065	c.354G>A	c.(352-354)acG>acA	p.T118T	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000510309.1_Silent_p.T118T|ERAP2_ENST00000379904.4_Silent_p.T118T	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	118					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TTGAAATCACGAATGCCACCC	0.428000													3	30					0	0	1	0	0
CGN	57530	broad.mit.edu	37	1	151491044	151491044	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:151491044G>A	ENST00000271636.7	+	2	182	c.49G>A	c.(49-51)Gga>Aga	p.G17R		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	11	Head.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CGTAGACCATGGAGTCCAGAT	0.552000													18	169					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129822360	129822360	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr12:129822360G>A	ENST00000422113.2	-	4	1444	c.1118C>T	c.(1117-1119)gCg>gTg	p.A373V		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	373						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGCGCCATCCGCACTGGAGAG	0.592000													53	64					0	0	1	0	0
CLNS1A	1207	broad.mit.edu	37	11	77336807	77336807	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr11:77336807C>T	ENST00000525428.1	-	3	409	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	CLNS1A_ENST00000528364.1_Missense_Mutation_p.E107K|CLNS1A_ENST00000525064.1_Missense_Mutation_p.E107K|CLNS1A_ENST00000263309.3_Intron|CLNS1A_ENST00000532069.1_Intron	NM_001293.2	NP_001284.1	P54105	ICLN_HUMAN	chloride channel, nucleotide-sensitive, 1A	107					blood circulation|cell volume homeostasis|chloride transport|ncRNA metabolic process|spliceosomal snRNP assembly	cytoskeleton|cytosol|nucleus|plasma membrane	protein binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19)		Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			GTAATAGGTTCAACATCATCA	0.333000													6	77					0	0	1	0	0
RFX3	5991	broad.mit.edu	37	9	3248121	3248121	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr9:3248121G>A	ENST00000382004.3	-	16	2190	c.1879C>T	c.(1879-1881)Cgt>Tgt	p.R627C	RFX3_ENST00000358730.2_Missense_Mutation_p.R627C|RFX3_ENST00000302303.1_Missense_Mutation_p.R627C	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	627					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TAGAGTAGACGGATCAGGTGG	0.458000													10	24					0	0	1	0	0
TTLL1	25809	broad.mit.edu	37	22	43455461	43455461	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr22:43455461C>A	ENST00000331018.7	-	8	1060	c.820G>T	c.(820-822)Ggc>Tgc	p.G274C	TTLL1_ENST00000266254.7_Missense_Mutation_p.G274C			O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	274	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		ACCTCCTTGCCGCGGGTGCTC	0.632000													7	32					2.0095e-06	2.09881e-06	1	1	0
PPME1	51400	broad.mit.edu	37	11	73950277	73950277	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr11:73950277G>C	ENST00000328257.8	+	9	1133	c.810G>C	c.(808-810)aaG>aaC	p.K270N	PPME1_ENST00000398427.4_Missense_Mutation_p.K270N|PPME1_ENST00000543525.1_Missense_Mutation_p.K83N|P4HA3_ENST00000540363.1_Intron			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	270					protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					CTATAAGCAAGAGGAAAAAGG	0.418000													8	67					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	49033843	49033843	+	Silent	SNP	C	C	T	rs121913299		TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr13:49033843C>T	ENST00000267163.4	+	20	2118	c.1980C>T	c.(1978-1980)ctC>ctT	p.L660L		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	660	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)|p.L660fs*2(3)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAGCCTATCTCCGGCTAAATA	0.388000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			41	51					0	0	1	0	0
PLOD1	5351	broad.mit.edu	37	1	12017907	12017907	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:12017907G>C	ENST00000196061.4	+	8	777	c.750G>C	c.(748-750)ttG>ttC	p.L250F	PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Missense_Mutation_p.L297F	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	250					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	AGCTGCAGTTGAACTACCTGG	0.627000													27	132					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100330084	100330084	+	Silent	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:100330084G>A	ENST00000294724.4	+	5	1081	c.603G>A	c.(601-603)gtG>gtA	p.V201V	AGL_ENST00000370163.3_Silent_p.V201V|AGL_ENST00000370161.2_Silent_p.V185V|AGL_ENST00000361522.4_Silent_p.V184V|AGL_ENST00000361915.3_Silent_p.V201V|AGL_ENST00000361302.3_Silent_p.V185V|AGL_ENST00000370165.3_Silent_p.V201V	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	201					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GACAGCTAGTGGAAAAATTAA	0.343000													20	45					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A	rs143538588	by1000genomes	TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3																						GGTCTGCAATGGACAGCTTCA	0.493000													3	28					0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102048764	102048764	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr10:102048764G>T	ENST00000318222.3	-	15	2682	c.2300C>A	c.(2299-2301)cCa>cAa	p.P767Q	PKD2L1_ENST00000338519.3_Missense_Mutation_p.P692Q|PKD2L1_ENST00000353274.3_Intron	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	767					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CCAGGGGTCTGGGGTCACAGC	0.572000													11	10					1.05317e-09	1.13791e-09	1	1	0
GTF2A1	2957	broad.mit.edu	37	14	81658906	81658906	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr14:81658906T>A	ENST00000553612.1	-	7	1293	c.890A>T	c.(889-891)gAa>gTa	p.E297V	GTF2A1_ENST00000434192.2_Missense_Mutation_p.E258V	NM_015859.3	NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	297					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		ctctttgtcttcctcctcatc	0.368000													43	147					0	0	1	0	0
IL17RC	84818	broad.mit.edu	37	3	9959311	9959311	+	Silent	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr3:9959311G>A	ENST00000295981.3	+	1	530	c.312G>A	c.(310-312)caG>caA	p.Q104Q	IL17RC_ENST00000403601.3_Intron|IL17RC_ENST00000416074.2_Intron|IL17RC_ENST00000498214.1_Intron|IL17RC_ENST00000413608.1_Intron|IL17RC_ENST00000455057.1_Intron|IL17RC_ENST00000383812.4_Intron	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	104						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CGGAGCCCCAGAAAAAGGTAG	0.557000													4	107					0	0	1	0	0
SCNN1D	6339	broad.mit.edu	37	1	1226052	1226052	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:1226052G>A	ENST00000338555.2	+	12	2547	c.1403G>A	c.(1402-1404)aGg>aAg	p.R468K	SCNN1D_ENST00000379116.5_Missense_Mutation_p.R632K|SCNN1D_ENST00000400928.3_Missense_Mutation_p.R468K|SCNN1D_ENST00000325425.8_Missense_Mutation_p.R534K					sodium channel, non-voltage-gated 1, delta subunit											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GGGACCTCCAGGTGGCCTTCC	0.647000													28	34					0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31676772	31676772	+	Splice_Site	SNP	G	G	T	rs149304342		TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr20:31676772G>T	ENST00000375483.3	+	6	927	c.926_splice	c.e6-1	p.G309_splice		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	309						cytoplasm|extracellular region	lipid binding										GTCTCCTTAGGCTTCTCCCCA	0.577000													51	93					8.01767e-09	8.56433e-09	1	1	0
TBC1D9	23158	broad.mit.edu	37	4	141598221	141598221	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr4:141598221G>A	ENST00000442267.2	-	6	960	c.886C>T	c.(886-888)Cgt>Tgt	p.R296C		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	296	GRAM 2.					intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AAAAGTGCACGGTATCTCTCA	0.413000													22	42					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													4	84					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91732036	91732036	+	Silent	SNP	G	G	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr7:91732036G>C	ENST00000359028.2	+	46	11463	c.11238G>C	c.(11236-11238)cgG>cgC	p.R3746R	AKAP9_ENST00000358100.2_Silent_p.R3692R|AKAP9_ENST00000356239.3_Silent_p.R3742R			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3746					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGCTTGCCCGGATGGGGGGGC	0.527000			T	BRAF	papillary thyroid								8	131					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25488649	25488649	+	RNA	SNP	C	C	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr15:25488649C>A	ENST00000453082.2	+	0	2277					NR_003343.1																						TGCCCAGCCCCTGAGGCGCTG	0.617000													17	47					3.52763e-06	3.62402e-06	1	1	0
TMX3	54495	broad.mit.edu	37	18	66367685	66367685	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr18:66367685G>A	ENST00000299608.2	-	6	665	c.349C>T	c.(349-351)Cga>Tga	p.R117*	TMX3_ENST00000443099.2_Intron|TMX3_ENST00000562706.1_Nonsense_Mutation_p.R117*	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	117	Thioredoxin.				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						TCTTTTGTTCGTGGTCCTCTA	0.254000													26	14					0	0	1	0	0
PLOD2	5352	broad.mit.edu	37	3	145838903	145838903	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr3:145838903C>T	ENST00000282903.5	-	3	511	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	PLOD2_ENST00000494950.1_Missense_Mutation_p.E57K|PLOD2_ENST00000360060.3_Missense_Mutation_p.E112K	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	112					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TCCTACCATTCAGTAAACATG	0.328000													10	59					0	0	1	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													7	84					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22927807	22927807	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:22927807C>T	ENST00000166244.3	+	16	2816	c.2744C>T	c.(2743-2745)gCc>gTc	p.A915V		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	915						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCACCCCCTGCCTTCGTCCGG	0.687000													36	49					0	0	1	0	0
SLC43A3	29015	broad.mit.edu	37	11	57185237	57185237	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr11:57185237G>T	ENST00000395123.2	-	8	959	c.655C>A	c.(655-657)Ccc>Acc	p.P219T	SLC43A3_ENST00000529554.1_Missense_Mutation_p.P219T|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000395124.1_Missense_Mutation_p.P219T|SLC43A3_ENST00000352187.1_Missense_Mutation_p.P219T|SLC43A3_ENST00000533524.1_Missense_Mutation_p.P232T	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	219					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CTGTAGTTGGGGGGCAGTGGG	0.572000													18	39					5.03518e-11	5.56832e-11	1	1	0
AKAP12	9590	broad.mit.edu	37	6	151674171	151674171	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr6:151674171C>A	ENST00000402676.2	+	4	4885	c.4645C>A	c.(4645-4647)Ctt>Att	p.L1549I	AKAP12_ENST00000253332.1_Missense_Mutation_p.L1549I|AKAP12_ENST00000359755.5_Missense_Mutation_p.L1444I|AKAP12_ENST00000354675.6_Missense_Mutation_p.L1451I	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1549	RII-binding (Probable).				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AAGCAGTAAACTTGTCCAAAA	0.453000													39	25					6.97489e-18	8.24704e-18	1	1	0
PCDHB2	56133	broad.mit.edu	37	5	140474518	140474518	+	Silent	SNP	C	C	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr5:140474518C>A	ENST00000194155.4	+	1	292	c.144C>A	c.(142-144)gcC>gcA	p.A48A		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		48	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTTTGTGGCCAATTTGTTAA	0.498000													33	48					2.68265e-12	3.00201e-12	1	1	0
C8orf34	116328	broad.mit.edu	37	8	69552706	69552706	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr8:69552706C>T	ENST00000337103.4	+	7	2460	c.868C>T	c.(868-870)Cag>Tag	p.Q290*	C8orf34_ENST00000325233.3_Nonsense_Mutation_p.Q59*|C8orf34_ENST00000518698.1_Nonsense_Mutation_p.Q401*|C8orf34_ENST00000539993.1_Nonsense_Mutation_p.Q315*			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	315					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TGCTGAGCCTCAGGCCAAGGT	0.398000													12	61					0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75174423	75174423	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr7:75174423C>T	ENST00000336926.6	-	26	2649	c.2623G>A	c.(2623-2625)Gcc>Acc	p.A875T	HIP1_ENST00000434438.2_Missense_Mutation_p.A824T	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	875	I/LWEQ.|Important for actin binding (By similarity).				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCCTTGGAGGCTGAGATAAGT	0.463000			T	PDGFRB	CMML								44	92					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37191317	37191317	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr20:37191317A>G	ENST00000262879.6	+	24	3958	c.3674A>G	c.(3673-3675)gAt>gGt	p.D1225G	RALGAPB_ENST00000397038.1_Missense_Mutation_p.D1003G|RALGAPB_ENST00000397042.3_Missense_Mutation_p.D1221G|RALGAPB_ENST00000397040.1_Missense_Mutation_p.D1225G			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1225	Rap-GAP.				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AATTGTTGTGATGATGGTGAA	0.403000													32	45					0	0	1	0	0
CPSF6	11052	broad.mit.edu	37	12	69656301	69656301	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr12:69656301C>T	ENST00000435070.2	+	9	1728	c.1618C>T	c.(1618-1620)Cga>Tga	p.R540*	CPSF6_ENST00000266679.8_Nonsense_Mutation_p.R577*|CPSF6_ENST00000456847.3_Nonsense_Mutation_p.R467*|CPSF6_ENST00000551516.1_Silent_p.T42T	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	540	Arg-rich.|Sufficient for nuclear targeting.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			agaccgtgaccgagagcgtga	0.483000													17	41					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118376471	118376471	+	Silent	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr11:118376471C>T	ENST00000534358.1	+	27	9887	c.9864C>T	c.(9862-9864)atC>atT	p.I3288I	KMT2A_ENST00000354520.4_Silent_p.I3247I|KMT2A_ENST00000389506.5_Silent_p.I3285I	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TCCCCAACATCATAAAAAGAT	0.453000													47	51					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62326980	62326980	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr20:62326980G>T	ENST00000318100.4	+	34	4626	c.3799G>T	c.(3799-3801)Gcc>Tcc	p.A1267S	RTEL1_ENST00000370018.3_Intron|RTEL1_ENST00000370003.1_Missense_Mutation_p.A512S|RTEL1_ENST00000360203.5_Missense_Mutation_p.A1267S|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.A1267S|RTEL1_ENST00000508582.2_Intron			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	0					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GCGCTGCCAAGCCTGCTGGCA	0.667000													39	21					1.02591e-13	1.15491e-13	1	1	0
UGT1A5	54579	broad.mit.edu	37	2	234622174	234622174	+	Silent	SNP	T	T	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr2:234622174T>C	ENST00000373414.3	+	1	537	c.537T>C	c.(535-537)gaT>gaC	p.D179D	UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A8_ENST00000373450.4_Intron	NM_019078.1	NP_061951.1														cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		TTCCATGTGATTTAGACTTTA	0.463000													110	85					0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113832325	113832325	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr2:113832325A>T	ENST00000393197.2	+	3	565	c.144A>T	c.(142-144)agA>agT	p.R48S	IL1F10_ENST00000337569.3_Missense_Mutation_p.R48S|IL1F10_ENST00000341010.2_Missense_Mutation_p.R48S	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	48						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						TTCCTAACAGAGGCTTGGCCC	0.577000													76	87					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166592	19166592	+	Missense_Mutation	SNP	C	C	T	rs112938926	byFrequency	TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:19166592C>T	ENST00000375371.3	-	6	2042	c.2021G>A	c.(2020-2022)cGc>cAc	p.R674H		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	674					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCCCTGGTAGCGGACCCAGTA	0.567000													33	128					0	0	1	0	0
GBP4	115361	broad.mit.edu	37	1	89661101	89661101	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:89661101G>C	ENST00000355754.6	-	3	339	c.242C>G	c.(241-243)cCt>cGt	p.P81R		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	81						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		GGAGCCCAGAGGGAAGCCTGC	0.512000													22	31					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212251650	212251650	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr2:212251650G>C	ENST00000342788.4	-	27	3719	c.3409C>G	c.(3409-3411)Cca>Gca	p.P1137A	ERBB4_ENST00000402597.1_Missense_Mutation_p.P1127A|ERBB4_ENST00000436443.1_Missense_Mutation_p.P1121A	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1137					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CTCCGTTCTGGGGCAAACACG	0.537000										TSP Lung(8;0.080)			31	38					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13247754	13247754	+	Silent	SNP	C	C	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr9:13247754C>G	ENST00000319217.7	-	3	310	c.63G>C	c.(61-63)ctG>ctC	p.L21L	MPDZ_ENST00000447879.1_Silent_p.L21L|MPDZ_ENST00000546205.1_Silent_p.L21L|MPDZ_ENST00000381015.4_Silent_p.L21L|MPDZ_ENST00000381022.2_Silent_p.L21L|MPDZ_ENST00000541718.1_Silent_p.L21L|MPDZ_ENST00000536827.1_Silent_p.L21L	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	21	L27.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CACGTTCTCGCAGCTTGGTTT	0.488000													73	37					0	0	1	0	0
NAE1	8883	broad.mit.edu	37	16	66839718	66839718	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr16:66839718C>G	ENST00000379463.2	-	20	1631	c.1439G>C	c.(1438-1440)gGa>gCa	p.G480A	NAE1_ENST00000359087.4_Missense_Mutation_p.G489A|NAE1_ENST00000290810.3_Missense_Mutation_p.G486A|NAE1_ENST00000394074.2_Missense_Mutation_p.G397A	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	486					apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	CTCAGCAGCTCCATATCGGCA	0.398000													12	34					0	0	1	0	0
CUL3	8452	broad.mit.edu	37	2	225368438	225368439	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr2:225368438_225368439insA	ENST00000264414.4	-	9	1645_1646	c.1307_1308insT	c.(1306-1308)tgcfs	p.C436fs	CUL3_ENST00000344951.4_Frame_Shift_Ins_p.C370fs|CUL3_ENST00000409096.1_Frame_Shift_Ins_p.C412fs|CUL3_ENST00000409777.1_Frame_Shift_Ins_p.C412fs	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	436					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GTCTCCTTGCCAAGTGTTGTTT	0.312													29	30	---	---	---	---					
N4BP3	23138	broad.mit.edu	37	5	177547308	177547308	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr5:177547308delT	ENST00000274605.5	+	3	819	c.460delT	c.(460-462)gcfs	p.C154fs		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	154						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			CACGCTGGCCTGCCACCCGCC	0.701													12	18	---	---	---	---					
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977389	29977393	+	RNA	DEL	CTTCT	CTTCT	-			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr6:29977389_29977393delCTTCT	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA																							AGAACCCTGACTTCTCTTTCTGCAA	0.488													7	45	---	---	---	---					
C6orf165	154313	broad.mit.edu	37	6	88144700	88144700	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr6:88144700delA	ENST00000507897.1	+	11	1506	c.1423delA	c.(1423-1425)aafs	p.K476fs	C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	476										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269													7	206	---	---	---	---					
TTLL11	158135	broad.mit.edu	37	9	124854967	124854967	+	Splice_Site	DEL	T	T	-			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr9:124854967delT	ENST00000321582.5	-	1	918	c.732_splice	c.e1+1	p.E244_splice	TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000373776.3_Splice_Site_p.E244_splice	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	244	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						GGGCCTCACCTCCTTCCACTT	0.706													2	4	---	---	---	---					
MTUS2	23281	broad.mit.edu	37	13	29674995	29674995	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr13:29674995delC	ENST00000431530.3	+	3	2620	c.2562delC	c.(2560-2562)ctfs	p.L854fs		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	844	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ACTCACGTCTCCCGGCAGCCA	0.557													2	4	---	---	---	---					
PYGB	5834	broad.mit.edu	37	20	25276271	25276272	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr20:25276271_25276272insT	ENST00000216962.4	+	19	2454_2455	c.2344_2345insT	c.(2344-2346)gcafs	p.A782fs	ABHD12_ENST00000376542.3_Intron|PYGB_ENST00000471359.1_3'UTR	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	782					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	TGAAGCCTACATGCAGTGCCAG	0.624													39	46	---	---	---	---					
