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
CHSY1	22856	broad.mit.edu	37	15	101718818	101718818	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:101718818C>T	ENST00000254190.3	-	3	1659	c.1184G>A	c.(1183-1185)aGa>aAa	p.R395K	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	395					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTCCATTCCTCTTCGAGGGGG	0.542000													35	73					0	0	0.004289	0	0
MAN2A2	4122	broad.mit.edu	37	15	91456191	91456191	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:91456191C>A	ENST00000360468.3	+	16	2572	c.2554C>A	c.(2554-2556)Cac>Aac	p.H852N	MAN2A2_ENST00000430376.2_Missense_Mutation_p.H42N|MAN2A2_ENST00000431652.2_Missense_Mutation_p.H360N|MAN2A2_ENST00000559717.1_Missense_Mutation_p.H852N	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	852					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGAGCACATTCACCAGGCGGT	0.567000													23	65					1.10923e-09	1.51888e-09	0.002780	1	0
SOS1	6654	broad.mit.edu	37	2	39249913	39249913	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:39249913C>G	ENST00000426016.1	-	11	1742	c.1656G>C	c.(1654-1656)agG>agC	p.R552S	SOS1_ENST00000402219.2_Missense_Mutation_p.R552S|SOS1_ENST00000395038.2_Missense_Mutation_p.R552S			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	552			R -> G (in NS4; increases the basal level of active RAS; prolonges RAS activation after EGF stimulation and enhances ERK activation).|R -> K (in NS4).|R -> S (in NS4).		apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CATCAAGCATCCTTTCCAGTG	0.403000									Noonan syndrome				29	83					0	0	0.008361	0	0
GXYLT2	727936	broad.mit.edu	37	3	73016856	73016856	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:73016856G>A	ENST00000389617.4	+	6	1296	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	379					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						AGCACTCTATGAAGCAATACG	0.493000													9	38					0	0	0.008291	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140724723	140724723	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140724723G>C	ENST00000253812.6	+	1	1123	c.1123G>C	c.(1123-1125)Gat>Cat	p.D375H	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATGACCGAGATTCTGGGCA	0.448000													23	99					0	0	0.003330	0	0
GCK	2645	broad.mit.edu	37	7	44192943	44192943	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:44192943C>T	ENST00000403799.3	-	2	634	c.165G>A	c.(163-165)gtG>gtA	p.V55V	GCK_ENST00000345378.2_Silent_p.V56V|GCK_ENST00000437084.1_Silent_p.V55V|GCK_ENST00000395796.3_Silent_p.V54V	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	55					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GCAGCATCTTCACACTGGCCT	0.602000													65	131					0	0	0.003610	0	0
TRANK1	9881	broad.mit.edu	37	3	36899292	36899292	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:36899292G>A	ENST00000429976.2	-	12	2036	c.1789C>T	c.(1789-1791)Ctg>Ttg	p.L597L	TRANK1_ENST00000428977.2_Silent_p.L47L|TRANK1_ENST00000301807.6_Silent_p.L47L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	597					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GCCAAGAGCAGAGAGTCGTTC	0.532000													34	213					0	0	0.002836	0	0
TGFBR3	7049	broad.mit.edu	37	1	92184913	92184913	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:92184913G>A	ENST00000212355.4	-	10	1987	c.1522C>T	c.(1522-1524)Cgg>Tgg	p.R508W	TGFBR3_ENST00000525962.1_Missense_Mutation_p.R508W|TGFBR3_ENST00000370399.2_Missense_Mutation_p.R507W	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	508	ZP.				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CACCGGGGCCGAGTACCGCAG	0.547000													35	62					0	0	0.002836	0	0
FAM83B	222584	broad.mit.edu	37	6	54805774	54805774	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:54805774G>C	ENST00000306858.7	+	5	2121	c.2005G>C	c.(2005-2007)Gac>Cac	p.D669H		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	669										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CCCGTTATTTGACAACTCAAA	0.343000													17	65					0	0	0.007413	0	0
MKRN3	7681	broad.mit.edu	37	15	23811021	23811021	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:23811021A>G	ENST00000314520.3	+	1	568	c.92A>G	c.(91-93)gAc>gGc	p.D31G	MKRN3_ENST00000568252.1_Missense_Mutation_p.D31G|MKRN3_ENST00000564592.1_Missense_Mutation_p.D31G	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	31						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TCTGGGCCGGACCTTCCCGTC	0.667000													3	40					0	0	0.004672	0	0
PBRM1	55193	broad.mit.edu	37	3	52696218	52696218	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:52696218C>T	ENST00000356770.4	-	4	461	c.459G>A	c.(457-459)caG>caA	p.Q153Q	PBRM1_ENST00000409114.3_Silent_p.Q153Q|PBRM1_ENST00000409057.1_Silent_p.Q153Q|PBRM1_ENST00000296302.7_Silent_p.Q153Q|PBRM1_ENST00000409767.1_Silent_p.Q153Q|PBRM1_ENST00000410007.1_Silent_p.Q153Q|PBRM1_ENST00000337303.4_Silent_p.Q153Q|PBRM1_ENST00000394830.3_Silent_p.Q153Q			Q86U86	PB1_HUMAN	polybromo 1	153					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTTCTCCTTTCTGAACAAACT	0.418000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								32	217					0	0	0.001786	0	0
CYB5D1	124637	broad.mit.edu	37	17	7761959	7761959	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:7761959G>A	ENST00000332439.4	+	3	425	c.273G>A	c.(271-273)ctG>ctA	p.L91L	CYB5D1_ENST00000571846.1_Silent_p.L91L|CYB5D1_ENST00000570446.1_Intron|LSMD1_ENST00000576861.1_Intron|LSMD1_ENST00000570555.1_5'UTR	NM_144607.4	NP_653208.2	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	91	Cytochrome b5 heme-binding.						heme binding			breast(1)|endometrium(1)|large_intestine(2)|skin(2)	6		all_cancers(10;0.11)|Prostate(122;0.219)				CCGGCTGCCTGAGGTACTGCA	0.627000											OREG0024147	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	54	77					0	0	0.003610	0	0
MIER1	57708	broad.mit.edu	37	1	67436578	67436578	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:67436578G>A	ENST00000357692.2	+	10	1009	c.752G>A	c.(751-753)aGa>aAa	p.R251K	MIER1_ENST00000371014.1_Missense_Mutation_p.R287K|MIER1_ENST00000371018.3_Missense_Mutation_p.R251K|MIER1_ENST00000401041.1_Missense_Mutation_p.R287K|MIER1_ENST00000371016.1_Missense_Mutation_p.R251K|MIER1_ENST00000401042.3_Missense_Mutation_p.R234K|MIER1_ENST00000355356.3_Missense_Mutation_p.R234K|MIER1_ENST00000355977.6_Missense_Mutation_p.R171K	NM_001146110.1	NP_001139582.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	258	ELM2.|Interaction with HDAC1.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						GCATCTAGAAGAACAGGTGAT	0.358000													16	61					0	0	0.003163	0	0
DSP	1832	broad.mit.edu	37	6	7583844	7583844	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:7583844G>C	ENST00000379802.3	+	24	6690	c.6349G>C	c.(6349-6351)Gat>Cat	p.D2117H	DSP_ENST00000418664.2_Missense_Mutation_p.D1518H	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2117	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.D2117Y(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAATTTGATTGATAGAGAAAC	0.443000													27	109					0	0	0.006320	0	0
FTH1	2495	broad.mit.edu	37	11	61732243	61732243	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:61732243G>C	ENST00000273550.7	-	4	742	c.508C>G	c.(508-510)Ctc>Gtc	p.L170V	FTH1_ENST00000529631.1_Intron|FTH1_ENST00000532601.1_Missense_Mutation_p.L100V|FTH1_ENST00000526640.1_Missense_Mutation_p.L140V|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529191.1_Intron	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	170					cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	TTGTCAAAGAGATATTCCGCC	0.522000													24	70					0	0	0.003954	0	0
MYH3	4621	broad.mit.edu	37	17	10543550	10543550	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:10543550G>C	ENST00000583535.1	-	22	2532	c.2445C>G	c.(2443-2445)atC>atG	p.I815M	MYH3_ENST00000226209.7_Missense_Mutation_p.I815M	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	815					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGTTGTACTGGATGCAGAAGA	0.478000													18	42					0	0	0.006122	0	0
SCG5	6447	broad.mit.edu	37	15	32988730	32988730	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:32988730C>G	ENST00000300175.4	+	6	669	c.559C>G	c.(559-561)Cta>Gta	p.L187V	SCG5_ENST00000413748.2_Missense_Mutation_p.L186V|SCG5_ENST00000498069.1_3'UTR|SCG5_ENST00000497208.1_Missense_Mutation_p.L169V|SCG5_ENST00000494364.1_Missense_Mutation_p.L168V	NM_001144757.1	NP_001138229.1	P05408	7B2_HUMAN	secretogranin V (7B2 protein)	187					intracellular protein transport|neuropeptide signaling pathway|peptide hormone processing|regulation of hormone secretion	extracellular region|stored secretory granule	enzyme inhibitor activity|GTP binding|unfolded protein binding			lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	6		all_lung(180;7.32e-08)		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)		CAATCCATATCTACAAGGACA	0.373000													13	26					0	0	0.002450	0	0
SMG6	23293	broad.mit.edu	37	17	2202598	2202598	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:2202598G>A	ENST00000544865.1	-	2	1866	c.1356C>T	c.(1354-1356)gtC>gtT	p.V452V	SMG6_ENST00000263073.6_Silent_p.V483V			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	483	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ATGTAGGGCTGACTTCATCAT	0.512000													102	157					0	0	0.003610	0	0
KIAA0754	643314	broad.mit.edu	37	1	39879406	39879406	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:39879406G>A	ENST00000530275.1	+	1	3256	c.3061G>A	c.(3061-3063)Gcc>Acc	p.A1021T	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1021	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAGGAATCCGCCTCCGCAGC	0.682000													6	33					0	0	0.001168	0	0
CSPG4	1464	broad.mit.edu	37	15	75977247	75977247	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:75977247C>T	ENST00000308508.5	-	5	4371	c.4279G>A	c.(4279-4281)Gag>Aag	p.E1427K		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1427	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ATCAGCTGCTCTTCCACCTAG	0.597000													18	62					0	0	0.008871	0	0
SVILP1	645954	broad.mit.edu	37	10	30987354	30987354	+	RNA	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:30987354C>T	ENST00000435645.1	+	0	487																											TAGAAACTAACTGCATTTACT	0.433000													15	38					0	0	0.002450	0	0
CGGBP1	8545	broad.mit.edu	37	3	88104904	88104904	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:88104904C>T	ENST00000398392.2	-	1	1555	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	CGGBP1_ENST00000462901.1_Missense_Mutation_p.E75K|CGGBP1_ENST00000309534.6_Missense_Mutation_p.E75K|CGGBP1_ENST00000482016.1_Missense_Mutation_p.E75K			Q9UFW8	CGBP1_HUMAN	CGG triplet repeat binding protein 1	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding			kidney(1)|large_intestine(2)|lung(2)	5		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		TTCTGCTCTTCAAATTCTGCC	0.453000													15	112					0	0	0.003163	0	0
NMRK1	54981	broad.mit.edu	37	9	77683978	77683978	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:77683978C>G	ENST00000376811.1	-	8	904	c.442G>C	c.(442-444)Gat>Cat	p.D148H	NMRK1_ENST00000361092.4_Missense_Mutation_p.D144H|NMRK1_ENST00000376808.4_Missense_Mutation_p.D120H			Q9NWW6	NRK1_HUMAN	nicotinamide riboside kinase 1	144					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|ribosylnicotinamide kinase activity										ACATGGCCATCAAAGTATCCC	0.413000													15	70					0	0	0.003163	0	0
CSRNP2	81566	broad.mit.edu	37	12	51467852	51467852	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:51467852C>T	ENST00000228515.1	-	3	462	c.165G>A	c.(163-165)ctG>ctA	p.L55L		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	55					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						TCTGCCGCTTCAGGATGGATG	0.493000													25	78					0	0	0.003330	0	0
COL4A3	1285	broad.mit.edu	37	2	228174028	228174028	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:228174028C>T	ENST00000396578.3	+	50	4911	c.4749C>T	c.(4747-4749)ttC>ttT	p.F1583F	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1583	Collagen IV NC1.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GATTTTCATTCATCATGGTGA	0.473000													5	22					0	0	0.001168	0	0
TXNIP	10628	broad.mit.edu	37	1	145440314	145440314	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:145440314G>T	ENST00000369317.4	+	5	954	c.620G>T	c.(619-621)cGa>cTa	p.R207L	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	207					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACATGTTCCCGAATTGTGGTC	0.453000													40	84					1.43246e-33	2.03885e-33	0.007835	1	0
HADHB	3032	broad.mit.edu	37	2	26501592	26501592	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:26501592G>C	ENST00000317799.5	+	8	657	c.553G>C	c.(553-555)Gat>Cat	p.D185H	HADHB_ENST00000537713.1_Missense_Mutation_p.D170H|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Intron|HADHB_ENST00000545822.1_Missense_Mutation_p.D163H	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	185					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGATGCTTGATCTCAATAA	0.453000													12	81					0	0	0.000978	0	0
ZNF845	91664	broad.mit.edu	37	19	53856074	53856074	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:53856074G>C	ENST00000458035.1	+	4	2263	c.2146G>C	c.(2146-2148)Gag>Cag	p.E716Q	ZNF845_ENST00000595091.1_Missense_Mutation_p.E716Q	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	716				Missing (in Ref. 1; BAG58121).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TCATACTGGAGAGAAACCTTA	0.418000													37	118					0	0	0.004289	0	0
BAZ2B	29994	broad.mit.edu	37	2	160182266	160182266	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:160182266C>A	ENST00000392783.2	-	35	6602	c.6107G>T	c.(6106-6108)aGa>aTa	p.R2036I	BAZ2B_ENST00000355831.2_Missense_Mutation_p.R2002I|BAZ2B_ENST00000343439.5_Missense_Mutation_p.R1936I|BAZ2B_ENST00000392782.1_Missense_Mutation_p.R2000I	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	2036					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTCCATTTTTCTTTTCTTGAG	0.353000													39	84					2.40579e-17	3.37976e-17	0.006230	1	0
ABCF1	23	broad.mit.edu	37	6	30552094	30552094	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:30552094G>A	ENST00000326195.8	+	13	1340	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	ABCF1_ENST00000376545.3_Missense_Mutation_p.E372K|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	410	ABC transporter 1.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CACAGCTGCTGAGAGGCTAGA	0.597000													19	65					0	0	0.001523	0	0
MTMR3	8897	broad.mit.edu	37	22	30394779	30394779	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:30394779G>C	ENST00000333027.3	+	8	818	c.490G>C	c.(490-492)Gag>Cag	p.E164Q	MTMR3_ENST00000406629.1_Missense_Mutation_p.E164Q|MTMR3_ENST00000323630.5_Missense_Mutation_p.E28Q|MTMR3_ENST00000401950.2_Missense_Mutation_p.E164Q|MTMR3_ENST00000351488.3_Missense_Mutation_p.E164Q	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	164	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GTTTAAAAACGAGGTGGAGAG	0.408000													6	21					0	0	0.001168	0	0
ANXA9	8416	broad.mit.edu	37	1	150960575	150960575	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:150960575C>T	ENST00000368947.4	+	11	1182	c.706C>T	c.(706-708)Cag>Tag	p.Q236*		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	236					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGTGTTTGATCAGTACCAGCG	0.557000													20	48					0	0	0.003330	0	0
TRPM4	54795	broad.mit.edu	37	19	49661463	49661463	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:49661463G>T	ENST00000252826.5	+	2	165	c.39G>T	c.(37-39)aaG>aaT	p.K13N	TRPM4_ENST00000427978.2_Missense_Mutation_p.K13N|TRPM4_ENST00000355712.5_5'UTR	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	13					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGATCCCCAAGATCTTCAAGA	0.602000													73	333					3.19358e-47	4.56145e-47	0.003610	1	0
DNAH7	56171	broad.mit.edu	37	2	196718190	196718190	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:196718190C>T	ENST00000312428.6	-	46	8758	c.8658G>A	c.(8656-8658)gaG>gaA	p.E2886E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2886					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCGAGTTTTCTCACCTCCAA	0.463000													9	54					0	0	0.004482	0	0
TTC30B	150737	broad.mit.edu	37	2	178417039	178417039	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:178417039C>G	ENST00000408939.3	-	1	703	c.453G>C	c.(451-453)gaG>gaC	p.E151D		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B						cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CGGTCTCATTCTCGCCCCCAC	0.582000													51	327					0	0	0.003610	0	0
RHPN2	85415	broad.mit.edu	37	19	33490610	33490610	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:33490610C>T	ENST00000254260.3	-	10	1142	c.1107G>A	c.(1105-1107)gtG>gtA	p.V369V	RHPN2_ENST00000400226.4_Splice_Site_p.V218V	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	369	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TGCCTGGCTTCACTGCAAAGA	0.542000													27	64					0	0	0.002096	0	0
AP2B1	163	broad.mit.edu	37	17	34036247	34036247	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:34036247C>T	ENST00000262325.7	+	18	2970	c.2417C>T	c.(2416-2418)gCt>gTt	p.A806V	AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000592545.1_Missense_Mutation_p.A782V|AP2B1_ENST00000312678.8_Missense_Mutation_p.A820V|AP2B1_ENST00000537622.2_Missense_Mutation_p.A820V|AP2B1_ENST00000538556.1_Missense_Mutation_p.A749V|AP2B1_ENST00000589344.1_Missense_Mutation_p.A820V	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	806					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TGGCAGGTGGCTGTGAAAAAC	0.473000													12	67					0	0	0.000978	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16532692	16532692	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:16532692G>C	ENST00000270747.3	-	7	1417	c.1281C>G	c.(1279-1281)gtC>gtG	p.V427V	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	427	DH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTGCTCTTGACCTCGGGCA	0.647000													5	14					0	0	0.001984	0	0
GPR63	81491	broad.mit.edu	37	6	97247300	97247300	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:97247300C>A	ENST00000229955.3	-	2	653	c.308G>T	c.(307-309)tGc>tTc	p.C103F	GPR63_ENST00000417980.1_Missense_Mutation_p.C103F	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	103						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AACCATGAGGCAAACAACCAA	0.443000													16	44					3.45872e-05	4.61162e-05	0.004007	1	0
NSFL1C	55968	broad.mit.edu	37	20	1447415	1447415	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:1447415C>A	ENST00000216879.4	-	1	922	c.55G>T	c.(55-57)Gag>Tag	p.E19*	NSFL1C_ENST00000350991.4_Nonsense_Mutation_p.E19*|NSFL1C_ENST00000381658.4_5'UTR|NSFL1C_ENST00000476071.1_Nonsense_Mutation_p.E19*|NSFL1C_ENST00000353088.2_Nonsense_Mutation_p.E19*	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	19						chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						CGGTCCTCCTCGGCGCCCGTC	0.746000													3	8					0.00024832	0.000328665	0.000248	1	0
SPHKAP	80309	broad.mit.edu	37	2	228883230	228883230	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:228883230C>T	ENST00000392056.3	-	7	2386	c.2340G>A	c.(2338-2340)acG>acA	p.T780T	SPHKAP_ENST00000344657.5_Silent_p.T780T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	780						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGACAAGACTCGTGTTGTGTG	0.502000													46	124					0	0	0.003610	0	0
BOLA3	388962	broad.mit.edu	37	2	74372361	74372361	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:74372361C>G	ENST00000327428.5	-	2	243	c.124G>C	c.(124-126)Gaa>Caa	p.E42Q	BOLA3_ENST00000295326.4_Missense_Mutation_p.E42Q	NM_212552.2	NP_997717.2	Q53S33	BOLA3_HUMAN	bolA family member 3	42						extracellular region				large_intestine(1)|lung(1)	2						GGAAACTTTTCTTTGAGAATT	0.478000													10	74					0	0	0.006214	0	0
P2RY13	53829	broad.mit.edu	37	3	151046539	151046539	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:151046539G>C	ENST00000325602.5	-	2	324	c.305C>G	c.(304-306)tCt>tGt	p.S102C	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	102						integral to membrane|plasma membrane				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			GTGTGAGTCAGAGAGGATTTT	0.468000													21	36					0	0	0.001882	0	0
CYP2A7	1549	broad.mit.edu	37	19	41384835	41384835	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:41384835C>G	ENST00000301146.4	-	5	1202	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	CYP2A7_ENST00000291764.3_Missense_Mutation_p.E170Q|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	221						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GAGAACATCTCATAGAGCTGG	0.527000													15	46					0	0	0.006122	0	0
CELSR3	1951	broad.mit.edu	37	3	48697852	48697852	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:48697852G>A	ENST00000544264.1	-	1	2496	c.2216C>T	c.(2215-2217)tCa>tTa	p.S739L	CELSR3_ENST00000164024.4_Missense_Mutation_p.S739L			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	739	Cadherin 4.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GACACTGGCTGAGGCAGAGAG	0.567000													34	53					0	0	0.007835	0	0
PLEKHH3	79990	broad.mit.edu	37	17	40820225	40820225	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:40820225C>A	ENST00000293349.6	-	13	2723	c.2293G>T	c.(2293-2295)Gac>Tac	p.D765Y	PLEKHH3_ENST00000412503.1_Missense_Mutation_p.D591Y|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000591022.1_Missense_Mutation_p.D768Y			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	768					signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GGGGAGGTGTCTGGCAGGTCT	0.647000													22	41					1.10923e-09	1.51888e-09	0.002780	1	0
NEDD9	4739	broad.mit.edu	37	6	11190647	11190647	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:11190647C>T	ENST00000379446.5	-	5	1621	c.1455G>A	c.(1453-1455)atG>atA	p.M485I	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.M485I	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	485					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GCTCCCGCTTCATCTTGTTGT	0.522000													12	38					0	0	0.001368	0	0
CACNA1D	776	broad.mit.edu	37	3	53783406	53783406	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:53783406C>T	ENST00000288139.4	+	28	3604	c.3486C>T	c.(3484-3486)ttC>ttT	p.F1162F	CACNA1D_ENST00000422281.2_Silent_p.F1142F|CACNA1D_ENST00000540742.1_Silent_p.F49F|CACNA1D_ENST00000350061.5_Silent_p.F1142F	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit		Dihydropyridine binding (By similarity).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TAGCTTTCTTCATGATGAACA	0.418000													33	44					0	0	0.002096	0	0
GBX1	2636	broad.mit.edu	37	7	150864185	150864185	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:150864185C>T	ENST00000297537.4	-	1	450	c.451G>A	c.(451-453)Gat>Aat	p.D151N	GBX1_ENST00000475831.1_5'UTR	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	151	Pro-rich.					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCAGCTCATCAGCTTCCAGC	0.711000													26	75					0	0	0.006320	0	0
ZNF16	7564	broad.mit.edu	37	8	146156262	146156262	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:146156262G>A	ENST00000276816.4	-	4	2097	c.1911C>T	c.(1909-1911)gcC>gcT	p.A637A	ZNF16_ENST00000394909.2_Silent_p.A637A	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	637					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		GCTGACTGAAGGCTTTCCCAC	0.542000													28	77					0	0	0.005443	0	0
NR6A1	2649	broad.mit.edu	37	9	127289100	127289100	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:127289100C>A	ENST00000487099.2	-	8	1316	c.1159G>T	c.(1159-1161)Gag>Tag	p.E387*	NR6A1_ENST00000344523.4_Nonsense_Mutation_p.E386*|NR6A1_ENST00000416460.2_Nonsense_Mutation_p.E382*|NR6A1_ENST00000373584.3_Nonsense_Mutation_p.E383*	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	387					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						GCATACTCCTCGTTGCTGACC	0.498000													38	93					1.07637e-12	1.49403e-12	0.004878	1	0
HELZ2	85441	broad.mit.edu	37	20	62198716	62198716	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:62198716G>C	ENST00000467148.1	-	6	2064	c.1995C>G	c.(1993-1995)ctC>ctG	p.L665L	HELZ2_ENST00000427522.2_Silent_p.L96L	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CCTCATCGATGAGAATGTGGG	0.706000													3	7					0	0	0.004672	0	0
PIGK	10026	broad.mit.edu	37	1	77627290	77627290	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:77627290C>G	ENST00000370812.3	-	7	714	c.691G>C	c.(691-693)Gat>Cat	p.D231H	PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000370813.5_Missense_Mutation_p.D155H|PIGK_ENST00000445065.1_Missense_Mutation_p.D137H|PIGK_ENST00000359130.1_Missense_Mutation_p.D231H	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	231					attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						GAGAGTGAATCTTCTCCCACT	0.368000													14	65					0	0	0.002450	0	0
SCN1B	6324	broad.mit.edu	37	19	35523533	35523533	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:35523533G>C	ENST00000262631.5	+	2	279	c.142G>C	c.(142-144)Gag>Cag	p.E48Q	SCN1B_ENST00000596348.1_3'UTR|SCN1B_ENST00000595652.1_Missense_Mutation_p.E48Q|SCN1B_ENST00000415950.3_Missense_Mutation_p.E48Q	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	48	Ig-like C2-type.				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GCGCCGCAGCGAGACCAACGC	0.627000													43	190					0	0	0.003610	0	0
CARF	79800	broad.mit.edu	37	2	203839184	203839184	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:203839184G>A	ENST00000402905.3	+	12	1780	c.1459G>A	c.(1459-1461)Gat>Aat	p.D487N	CARF_ENST00000320443.8_Missense_Mutation_p.D487N|CARF_ENST00000414439.1_Missense_Mutation_p.D385N|CARF_ENST00000545262.1_Missense_Mutation_p.D411N|WDR12_ENST00000477723.1_Intron|CARF_ENST00000428585.1_Missense_Mutation_p.D411N|CARF_ENST00000438828.2_Missense_Mutation_p.D487N|CARF_ENST00000545253.1_Missense_Mutation_p.D399N	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1			calcium responsive transcription factor																		GAGAAATGGAGATACGGTATA	0.323000													15	37					0	0	0.004007	0	0
NIPBL	25836	broad.mit.edu	37	5	37019411	37019411	+	Splice_Site	SNP	A	A	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:37019411A>T	ENST00000282516.8	+	25	5419		c.e25-1		NIPBL_ENST00000448238.2_Splice_Site	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)						brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTTATTCTATAGGTTTCAGGA	0.318000													19	64					0	0	0.008871	0	0
RREB1	6239	broad.mit.edu	37	6	7229506	7229506	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:7229506C>T	ENST00000379938.2	+	10	1711	c.1174C>T	c.(1174-1176)Cag>Tag	p.Q392*	RREB1_ENST00000334984.6_Nonsense_Mutation_p.Q392*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.Q392*|RREB1_ENST00000349384.6_Nonsense_Mutation_p.Q392*	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	392					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCAGGCAATTCAGCTCCAGAC	0.622000													8	38					0	0	0.003080	0	0
TAF12	6883	broad.mit.edu	37	1	28931934	28931934	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:28931934C>T	ENST00000263974.4	-	5	834	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	TAF12_ENST00000373824.4_Missense_Mutation_p.E134K|TAF12_ENST00000471683.1_5'UTR	NM_001135218.1	NP_001128690.1	Q16514	TAF12_HUMAN	TAF12 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 20kDa	134					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|upper_aerodigestive_tract(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Renal(390;0.00121)|Breast(348;0.00502)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)		Colorectal(126;3.21e-08)|COAD - Colon adenocarcinoma(152;1.74e-06)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(1967;0.0109)|BRCA - Breast invasive adenocarcinoma(304;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		CGGATTTCTTCAGAGCCAAAT	0.517000													35	88					0	0	0.003271	0	0
KRT6B	3854	broad.mit.edu	37	12	52843380	52843380	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:52843380G>T	ENST00000252252.3	-	5	997	c.950C>A	c.(949-951)tCc>tAc	p.S317Y		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	317	Linker 12.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TAGCACCACGGATGTGTCTGA	0.527000													20	236					2.75727e-19	3.88362e-19	0.004878	1	0
TPR	7175	broad.mit.edu	37	1	186322927	186322927	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:186322927G>A	ENST00000367478.4	-	18	2523	c.2227C>T	c.(2227-2229)Cat>Tat	p.H743Y	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTTCTCTCATGAAGTGATGTT	0.353000			T	NTRK1	papillary thyroid								13	98					0	0	0.001368	0	0
HELZ2	85441	broad.mit.edu	37	20	62198913	62198913	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:62198913G>C	ENST00000467148.1	-	6	1867	c.1798C>G	c.(1798-1800)Cct>Gct	p.P600A	HELZ2_ENST00000427522.2_Missense_Mutation_p.P31A	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		ACACGGAGAGGAGTGGCCTCG	0.667000													4	8					0	0	0.000602	0	0
DUPD1	338599	broad.mit.edu	37	10	76803619	76803619	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:76803619G>C	ENST00000338487.5	-	2	356	c.357C>G	c.(355-357)ttC>ttG	p.F119L		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	119	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.F119F(1)		breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CACTGAGGTCGAAGGTGGGCA	0.677000													18	68					0	0	0.007413	0	0
POM121L12	285877	broad.mit.edu	37	7	53104099	53104099	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:53104099C>T	ENST00000408890.4	+	1	751	c.735C>T	c.(733-735)ctC>ctT	p.L245L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	245										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCTGGAGCCTCAGTTTTTGTG	0.647000													17	66					0	0	0.004007	0	0
RYR2	6262	broad.mit.edu	37	1	237819236	237819236	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:237819236C>T	ENST00000366574.2	+	53	8398	c.8081C>T	c.(8080-8082)tCa>tTa	p.S2694L	RYR2_ENST00000360064.6_Missense_Mutation_p.S2692L|RYR2_ENST00000542537.1_Missense_Mutation_p.S2678L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2694	4 X approximate repeats.|Modulator (Potential).				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)			AAACAGTCATCAATGGATTCT	0.413000													10	23					0	0	0.008291	0	0
CREBBP	1387	broad.mit.edu	37	16	3777746	3777746	+	Silent	SNP	C	C	T	rs144609433	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:3777746C>T	ENST00000262367.5	-	31	8111	c.7302G>A	c.(7300-7302)acG>acA	p.T2434T	CREBBP_ENST00000382070.3_Silent_p.T2396T	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2434					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACTTCTCTAGCGTGTCCCCCG	0.552000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						66	131					0	0	0.003610	0	0
PGM2	55276	broad.mit.edu	37	4	37839181	37839181	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:37839181C>T	ENST00000381967.4	+	4	487	c.387C>T	c.(385-387)atC>atT	p.I129I	PGM2_ENST00000537241.1_Intron|PGM2_ENST00000544359.1_5'UTR	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	129					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						CCACATTTATCAGTCAGGGGA	0.458000													49	128					0	0	0.003610	0	0
PSMG2	56984	broad.mit.edu	37	18	12706694	12706694	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:12706694C>G	ENST00000317615.6	+	2	885	c.203C>G	c.(202-204)tCa>tGa	p.S68*	PSMG2_ENST00000590217.1_Nonsense_Mutation_p.S68*|PSMG2_ENST00000585331.2_Nonsense_Mutation_p.S37*	NM_020232.4	NP_064617.2	Q969U7	PSMG2_HUMAN	proteasome (prosome, macropain) assembly chaperone 2	68					proteasome assembly	nucleus	protein binding			lung(1)|prostate(2)|skin(1)	4						GAAGGAAATTCAACAGAACTT	0.323000													22	56					0	0	0.002299	0	0
ZNF99	7652	broad.mit.edu	37	19	22940381	22940381	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:22940381C>T	ENST00000397104.3	-	5	2056	c.2057G>A	c.(2056-2058)aGa>aAa	p.R686K	ZNF99_ENST00000596209.1_Missense_Mutation_p.R777K					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTTATGTTTTCTAAGGGCTGA	0.348000													11	77					0	0	0.008291	0	0
TYW1B	441250	broad.mit.edu	37	7	72081725	72081725	+	RNA	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:72081725G>C	ENST00000343721.5	-	0	900				TYW1B_ENST00000435769.2_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										TCGGGGATCAGATCCACCAGC	0.473000													24	86					0	0	0.002780	0	0
CTF1	1489	broad.mit.edu	37	16	30910763	30910763	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:30910763C>T	ENST00000279804.2	+	2	90	c.53C>T	c.(52-54)tCa>tTa	p.S18L	CTF1_ENST00000395019.3_Missense_Mutation_p.S17L	NM_001142544.1|NM_001330.3	NP_001136016.1|NP_001321.1	Q16619	CTF1_HUMAN	cardiotrophin 1	18					cell proliferation|cell-cell signaling|muscle organ development|positive regulation of cell proliferation	extracellular space	cytokine activity|leukemia inhibitory factor receptor binding			large_intestine(1)|urinary_tract(1)	2			Colorectal(24;0.198)			TCCTCAGTCTCACTTCTTCCC	0.567000													25	88					0	0	0.002096	0	0
FAM98B	283742	broad.mit.edu	37	15	38766480	38766480	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:38766480G>C	ENST00000397609.2	+	6	745	c.710G>C	c.(709-711)gGa>gCa	p.G237A	FAM98B_ENST00000491535.1_Missense_Mutation_p.G237A	NM_173611.2	NP_775882.2	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	237						tRNA-splicing ligase complex	protein binding			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		CAGTCCTTTGGATGGTCTGAT	0.428000													18	188					0	0	0.007413	0	0
KIAA0513	9764	broad.mit.edu	37	16	85120761	85120761	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:85120761A>G	ENST00000566428.1	+	12	1806	c.1175A>G	c.(1174-1176)aAc>aGc	p.N392S	KIAA0513_ENST00000538274.1_Missense_Mutation_p.N382S|KIAA0513_ENST00000258180.3_Missense_Mutation_p.N392S			O60268	K0513_HUMAN	KIAA0513	392						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		GTGATTGGCAACCTGGATGAA	0.602000											OREG0023994	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	51					0	0	0.002450	0	0
ZNF441	126068	broad.mit.edu	37	19	11892189	11892189	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:11892189C>T	ENST00000357901.4	+	4	1652	c.1550C>T	c.(1549-1551)tCa>tTa	p.S517L	ZNF441_ENST00000454339.2_Missense_Mutation_p.S450L	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S517L(1)|p.S450L(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTCCCAGTTCATTTCGAAGA	0.398000													32	61					0	0	0.001786	0	0
FBXO43	286151	broad.mit.edu	37	8	101153700	101153700	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:101153700G>C	ENST00000428847.2	-	2	1098	c.782C>G	c.(781-783)tCt>tGt	p.S261C		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	261					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			ATGTGTGATAGAGTCTTTAAA	0.378000													23	46					0	0	0.002299	0	0
WDR59	79726	broad.mit.edu	37	16	74920244	74920244	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:74920244C>A	ENST00000262144.6	-	24	2600	c.2470G>T	c.(2470-2472)Gaa>Taa	p.E824*		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	824										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CGGAGCTCTTCTGGTGAGGAT	0.527000													35	86					6.53348e-20	9.21839e-20	0.003755	1	0
DGKZ	8525	broad.mit.edu	37	11	46387826	46387826	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:46387826G>A	ENST00000454345.1	+	2	145	c.20G>A	c.(19-21)aGa>aAa	p.R7K	DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000343674.6_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	7					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TTCTTTAGGAGACATTTCCGG	0.682000													7	19					0	0	0.001984	0	0
CIR1	9541	broad.mit.edu	37	2	175213338	175213338	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:175213338C>T	ENST00000342016.3	-	10	1332	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	414	Arg/Ser-rich (RS domain).				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						CTGCTTTGCTCTTCACCAGGA	0.507000													43	251					0	0	0.007835	0	0
TMEM131	23505	broad.mit.edu	37	2	98377308	98377308	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:98377308C>G	ENST00000186436.5	-	37	5187	c.4959G>C	c.(4957-4959)aaG>aaC	p.K1653N		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1653						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GGTTGCCGTTCTTGCCCGGGA	0.537000													15	69					0	0	0.003163	0	0
EFCAB5	374786	broad.mit.edu	37	17	28380455	28380455	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:28380455G>A	ENST00000394835.3	+	10	1675	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K	EFCAB5_ENST00000378738.3_Missense_Mutation_p.E495K|EFCAB5_ENST00000541045.1_Missense_Mutation_p.E152K|EFCAB5_ENST00000320856.5_Missense_Mutation_p.E495K|EFCAB5_ENST00000536908.2_Missense_Mutation_p.E439K|EFCAB5_ENST00000394832.2_Missense_Mutation_p.E495K	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	495							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TAAACTTAACGAACAGAGAAC	0.388000													33	216					0	0	0.002836	0	0
MAP7	9053	broad.mit.edu	37	6	136681163	136681163	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:136681163C>G	ENST00000354570.3	-	14	2220	c.1810G>C	c.(1810-1812)Gag>Cag	p.E604Q	MAP7_ENST00000454590.1_Missense_Mutation_p.E626Q|MAP7_ENST00000432797.2_Missense_Mutation_p.E458Q|MAP7_ENST00000438100.2_Missense_Mutation_p.E589Q|MAP7_ENST00000544465.1_Missense_Mutation_p.E589Q	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	604					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		ATAATCTCCTCAAGTCGCTAT	0.343000													18	51					0	0	0.006122	0	0
FLNA	2316	broad.mit.edu	37	X	153599343	153599343	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:153599343G>C	ENST00000422373.1	-	2	519	c.271C>G	c.(271-273)Cgc>Ggc	p.R91G	FLNA_ENST00000360319.4_Missense_Mutation_p.R91G|FLNA_ENST00000344736.4_Missense_Mutation_p.R91G|FLNA_ENST00000369850.3_Missense_Mutation_p.R91G	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	91	Actin-binding.|CH 1.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTGTGCTTGCGGTGCATCTTC	0.607000													14	9					0	0	0.003163	0	0
C15orf53	400359	broad.mit.edu	37	15	38990393	38990393	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:38990393G>A	ENST00000318792.1	+	2	197	c.187G>A	c.(187-189)Gag>Aag	p.E63K		NM_207444.2	NP_997327.1	Q8NAA6	CO053_HUMAN	chromosome 15 open reading frame 53	63										endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)		ccaccaacaagagctcaggga	0.463000													19	42					0	0	0.007413	0	0
ABCA7	10347	broad.mit.edu	37	19	1043124	1043124	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:1043124G>A	ENST00000263094.6	+	8	895	c.664G>A	c.(664-666)Gag>Aag	p.E222K	ABCA7_ENST00000433129.1_Missense_Mutation_p.E222K|ABCA7_ENST00000435683.2_Missense_Mutation_p.E84K	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	222					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTGCTGTCAGAGGCCCTCTG	0.657000													15	68					0	0	0.003163	0	0
HLA-F	3134	broad.mit.edu	37	6	29694183	29694183	+	Nonstop_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:29694183G>T	ENST00000376861.1	+	8	1424	c.1040G>T	c.(1039-1041)tGa>tTa	p.*347L	HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000259951.7_Intron|HLA-F_ENST00000334668.4_Nonstop_Mutation_p.*347L|HLA-F_ENST00000434407.2_Nonstop_Mutation_p.*255L|HLA-F_ENST00000440587.2_Intron			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	0					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TCTATAGTGTGAGACAGCTTC	0.358000													9	47					9.70103e-10	1.33287e-09	0.008291	1	0
SRCIN1	80725	broad.mit.edu	37	17	36715882	36715882	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:36715882C>T	ENST00000264659.7	-	10	2188	c.1964G>A	c.(1963-1965)cGa>cAa	p.R655Q	SRCIN1_ENST00000578925.1_Missense_Mutation_p.R689Q|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	527					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CTGCAGGCCTCGCAGGTGAAG	0.736000													8	25					0	0	0.004482	0	0
CBWD2	150472	broad.mit.edu	37	2	114220043	114220043	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:114220043G>A	ENST00000433343.2	+	9	838	c.526G>A	c.(526-528)Gat>Aat	p.D176N	CBWD2_ENST00000259199.4_Missense_Mutation_p.D212N|CBWD2_ENST00000416503.2_Missense_Mutation_p.D212N			Q8IUF1	CBWD2_HUMAN	COBW domain containing 2	212							ATP binding|protein binding			endometrium(1)|lung(1)	2						TCCAGAAGAAGATGTAAAGAA	0.323000													40	95					0	0	0.002852	0	0
GSPT1	2935	broad.mit.edu	37	16	11980398	11980398	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:11980398G>A	ENST00000434724.2	-	9	1382	c.1183C>T	c.(1183-1185)Cac>Tac	p.H395Y	GSPT1_ENST00000439887.2_Missense_Mutation_p.H394Y|GSPT1_ENST00000564790.1_5'UTR|GSPT1_ENST00000420576.2_Missense_Mutation_p.H257Y|GSPT1_ENST00000563468.1_Missense_Mutation_p.H257Y|RP11-166B2.8_ENST00000574364.1_RNA	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085	P15170	ERF3A_HUMAN	G1 to S phase transition 1	257					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						GGCATAAAGTGAATGTCCTTT	0.348000													24	64					0	0	0.002299	0	0
RNF25	64320	broad.mit.edu	37	2	219532976	219532976	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:219532976G>A	ENST00000295704.2	-	3	645	c.205C>T	c.(205-207)Cag>Tag	p.Q69*		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	69	RWD.				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGGGACCTGAAGCACCAGA	0.547000													26	56					0	0	0.003330	0	0
MLKL	197259	broad.mit.edu	37	16	74706420	74706420	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:74706420G>C	ENST00000308807.7	-	11	1861	c.1398C>G	c.(1396-1398)ctC>ctG	p.L466L	MLKL_ENST00000306247.7_Silent_p.L258L	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	466	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						AAAAGGTGGAGAGTTTCTTTA	0.408000													53	160					0	0	0.003610	0	0
INTS5	80789	broad.mit.edu	37	11	62415293	62415293	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:62415293G>A	ENST00000330574.2	-	2	2311	c.2259C>T	c.(2257-2259)gtC>gtT	p.V753V		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	753					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CACGGCCGATGACTCCAGCAT	0.547000													17	62					0	0	0.006122	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121652699	121652699	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:121652699C>T	ENST00000393386.2	+	12	4010	c.3599C>T	c.(3598-3600)cCa>cTa	p.P1200L	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1200					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACTGTTCTTCCAGCTGTGCCC	0.378000													50	161					0	0	0.003610	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140616515	140616515	+	RNA	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140616515C>G	ENST00000526308.1	+	0	2578					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						AATTAGGGATCTGATTATGAT	0.408000													4	16					0	0	0.000248	0	0
SRSF2	6427	broad.mit.edu	37	17	74732523	74732523	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:74732523C>A	ENST00000392485.2	-	2	558	c.386G>T	c.(385-387)cGa>cTa	p.R129L	SRSF2_ENST00000359995.5_Missense_Mutation_p.R129L|SRSF2_ENST00000508921.3_Missense_Mutation_p.R117L|MFSD11_ENST00000588460.1_5'UTR|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000586622.1_5'UTR	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	129	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						ACTCCGGGATCGGCTGCGGCG	0.711000			Mis		"""MDS, CLL"""								13	66					1.49906e-05	2.00368e-05	0.002450	1	0
SRP68	6730	broad.mit.edu	37	17	74056437	74056437	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:74056437C>T	ENST00000307877.2	-	7	950	c.789G>A	c.(787-789)atG>atA	p.M263I	SRP68_ENST00000355113.5_Missense_Mutation_p.M162I|SRP68_ENST00000539137.1_Missense_Mutation_p.M225I	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	263					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						ACCTCAATCTCATCTGCATGA	0.428000													19	96					0	0	0.003954	0	0
EMR1	2015	broad.mit.edu	37	19	6928195	6928195	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:6928195C>T	ENST00000312053.4	+	17	2299	c.2262C>T	c.(2260-2262)ttC>ttT	p.F754F	EMR1_ENST00000250572.8_Silent_p.F689F|EMR1_ENST00000381407.5_Silent_p.F613F|EMR1_ENST00000381404.4_Silent_p.F702F|EMR1_ENST00000450315.3_Silent_p.F577F	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	754					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TCTGGAGTTTCTTGGGGCCAG	0.498000													45	116					0	0	0.003610	0	0
IKBKB	3551	broad.mit.edu	37	8	42179979	42179979	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:42179979G>A	ENST00000520810.1	+	19	2139	c.1953G>A	c.(1951-1953)caG>caA	p.Q651Q	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Silent_p.Q428Q|IKBKB_ENST00000520835.1_Silent_p.Q649Q|IKBKB_ENST00000416505.2_Silent_p.Q592Q	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	651					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	AGAAGCGGCAGAAGGAGCTCT	0.567000													18	121					0	0	0.006122	0	0
TAB2	23118	broad.mit.edu	37	6	149730837	149730837	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:149730837G>C	ENST00000367456.1	+	8	2641	c.2064G>C	c.(2062-2064)gaG>gaC	p.E688D	TAB2_ENST00000286332.5_Missense_Mutation_p.E688D|TAB2_ENST00000538427.1_Missense_Mutation_p.E688D|TAB2_ENST00000536230.1_Missense_Mutation_p.E656D			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	688					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						AACAGTGTGAGATGCCAAGGC	0.433000													36	100					0	0	0.005524	0	0
PCDH8	5100	broad.mit.edu	37	13	53421533	53421533	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:53421533C>T	ENST00000377942.3	-	1	1242	c.1039G>A	c.(1039-1041)Gtc>Atc	p.V347I	PCDH8_ENST00000338862.4_Missense_Mutation_p.V347I	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	347	Cadherin 3.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TTGTCATTGACGTCTCGGATG	0.726000													8	31					0	0	0.006214	0	0
AHI1	54806	broad.mit.edu	37	6	135679284	135679284	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:135679284C>G	ENST00000367800.4	-	22	3367	c.3151G>C	c.(3151-3153)Gat>Cat	p.D1051H	AHI1_ENST00000417892.2_Missense_Mutation_p.D405H|AHI1_ENST00000457866.2_Missense_Mutation_p.D1051H	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	1051	SH3.					adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		GGTGCTGTATCTACCTGATGG	0.353000													75	295					0	0	0.003610	0	0
OPTN	10133	broad.mit.edu	37	10	13154581	13154581	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:13154581C>G	ENST00000378748.3	+	6	860	c.498C>G	c.(496-498)ctC>ctG	p.L166L	OPTN_ENST00000378757.2_Silent_p.L166L|OPTN_ENST00000482140.1_3'UTR|OPTN_ENST00000263036.5_Silent_p.L166L|OPTN_ENST00000378764.2_Silent_p.L166L|OPTN_ENST00000378752.3_Silent_p.L166L|OPTN_ENST00000378747.3_Silent_p.L166L	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	166	Interaction with Rab8.				cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AACTGCAGCTCAAGCTGAACT	0.498000													28	88					0	0	0.002096	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971036	21971036	+	Missense_Mutation	SNP	C	C	T	rs121913381		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:21971036C>T	ENST00000579755.1	-	2	657	c.365G>A	c.(364-366)cGa>cAa	p.R122Q	CDKN2A_ENST00000494262.1_Missense_Mutation_p.D57N|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D108N|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D57N|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D57N|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R163Q|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D108N|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D108N|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D57N|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R122Q|CDKN2A_ENST00000304494.5_Missense_Mutation_p.D108N|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D57N			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	138			G -> R (in CMM2).|G -> S (in a biliary tract tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.D108Y(18)|p.D108N(7)|p.D108H(7)|p.R163L(3)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.R163Q(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCCAGGCATCGCGCACGTCC	0.741000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			10	17					0	0	0.000978	0	0
ZNF608	57507	broad.mit.edu	37	5	123983433	123983433	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:123983433C>T	ENST00000306315.5	-	4	3079	c.2644G>A	c.(2644-2646)Gag>Aag	p.E882K	ZNF608_ENST00000504926.1_Missense_Mutation_p.E455K	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	882						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTATCGGCCTCAGCTTTGATA	0.527000													14	87					0	0	0.002450	0	0
SERPINB8	5271	broad.mit.edu	37	18	61647057	61647057	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:61647057G>A	ENST00000397985.2	+	3	447	c.191G>A	c.(190-192)gGa>gAa	p.G64E	HMSD_ENST00000481726.1_3'UTR|SERPINB8_ENST00000353706.2_Missense_Mutation_p.G64E|SERPINB8_ENST00000542677.1_5'UTR|SERPINB8_ENST00000397988.3_Missense_Mutation_p.G64E	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	64					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				TACAAAGACGGAGATATTCAC	0.433000											OREG0025042	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	108					0	0	0.003755	0	0
NPAS1	4861	broad.mit.edu	37	19	47535976	47535976	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:47535976C>T	ENST00000602212.1	+	5	728	c.508C>T	c.(508-510)Ctg>Ttg	p.L170L	NPAS1_ENST00000602189.1_5'UTR|NPAS1_ENST00000449844.2_Silent_p.L170L			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	170	PAS 1.				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		CTCCATCTATCTGGGTCTCTC	0.552000											OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	75					0	0	0.001523	0	0
GFPT2	9945	broad.mit.edu	37	5	179745840	179745840	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:179745840G>C	ENST00000253778.8	-	10	1080	c.911C>G	c.(910-912)tCt>tGt	p.S304C	GFPT2_ENST00000520165.1_5'UTR	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	304					dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GATGGCTCGAGATGGGTCATC	0.607000													14	37					0	0	0.002450	0	0
TRPA1	8989	broad.mit.edu	37	8	72975076	72975076	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:72975076G>C	ENST00000262209.4	-	6	972	c.765C>G	c.(763-765)atC>atG	p.I255M		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	255						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GGCACATTTTGATCATTTCCA	0.388000													13	71					0	0	0.001855	0	0
SZT2	23334	broad.mit.edu	37	1	43896196	43896196	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:43896196G>T	ENST00000562955.1	+	31	4339	c.4339G>T	c.(4339-4341)Gag>Tag	p.E1447*	SZT2_ENST00000372442.1_Nonsense_Mutation_p.E605*	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1504						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGTGGTCACTGAGAGTGACCC	0.562000													26	53					4.22769e-11	5.85318e-11	0.006320	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85466779	85466779	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:85466779C>T	ENST00000393217.2	+	11	2851	c.2790C>T	c.(2788-2790)gtC>gtT	p.V930V		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	930										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TGGCACAAGTCTGGATTCCAA	0.403000													17	76					0	0	0.004990	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62494157	62494157	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:62494157C>G	ENST00000301785.5	-	1	664	c.472G>C	c.(472-474)Gag>Cag	p.E158Q	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.E158Q	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	158	Glu-rich.				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						CTCCGCTCCTCGGGTTCGTCT	0.701000													13	26					0	0	0.001368	0	0
PRKAR2A	5576	broad.mit.edu	37	3	48820513	48820513	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:48820513G>T	ENST00000265563.8	-	5	697	c.448C>A	c.(448-450)Caa>Aaa	p.Q150K	PRKAR2A_ENST00000454963.1_Missense_Mutation_p.Q150K|PRKAR2A_ENST00000296446.8_Missense_Mutation_p.Q150K	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, alpha	150					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity		SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		TCGAGAACTTGAGAAAGCTGT	0.383000													10	67					4.68919e-08	6.35133e-08	0.008291	1	0
MED29	55588	broad.mit.edu	37	19	39882056	39882056	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:39882056G>C	ENST00000315588.5	+	1	106	c.57G>C	c.(55-57)gcG>gcC	p.A19A	MED29_ENST00000599213.2_5'UTR|MED29_ENST00000594368.1_5'UTR	NM_017592.1	NP_060062.1	Q9NX70	MED29_HUMAN	mediator complex subunit 29	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CGGTCTACGCGAGGAAGATGG	0.617000													9	33					0	0	0.004482	0	0
DIDO1	11083	broad.mit.edu	37	20	61526493	61526493	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:61526493C>G	ENST00000266070.4	-	9	2564	c.2239G>C	c.(2239-2241)Gag>Cag	p.E747Q	DIDO1_ENST00000395340.1_Missense_Mutation_p.E747Q|DIDO1_ENST00000395335.2_Missense_Mutation_p.E747Q|DIDO1_ENST00000395343.1_Missense_Mutation_p.E747Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	747	TFIIS central.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GAGATTTCCTCACGCAGAACA	0.413000													66	191					0	0	0.003610	0	0
BCAN	63827	broad.mit.edu	37	1	156617443	156617443	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:156617443G>C	ENST00000329117.5	+	4	946	c.610G>C	c.(610-612)Gat>Cat	p.D204H	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.D204H	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican		Link 1.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGAGCAATGTGATGCTGGCTG	0.647000													17	122					0	0	0.007413	0	0
SLC5A4	6527	broad.mit.edu	37	22	32627028	32627028	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:32627028C>G	ENST00000266086.4	-	10	1067	c.1056G>C	c.(1054-1056)gtG>gtC	p.V352V	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	352					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CACAGTGTTTCACGCATTCAG	0.493000													13	46					0	0	0.004990	0	0
FREM1	158326	broad.mit.edu	37	9	14805073	14805073	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:14805073C>T	ENST00000380881.4	-	20	4170	c.3355G>A	c.(3355-3357)Gcc>Acc	p.A1119T	FREM1_ENST00000380880.3_Missense_Mutation_p.A1118T|FREM1_ENST00000422223.2_Missense_Mutation_p.A1118T			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1118					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AACTGGTCGGCAGTTGGTTCT	0.438000													50	60					0	0	0.003610	0	0
IL17C	27189	broad.mit.edu	37	16	88706324	88706324	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:88706324C>G	ENST00000244241.4	+	3	487	c.438C>G	c.(436-438)ctC>ctG	p.L146L		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	146					cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CAGCTGCGCTCAACTCCGTGC	0.687000													12	25					0	0	0.000978	0	0
TNRC6B	23112	broad.mit.edu	37	22	40661277	40661277	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:40661277C>G	ENST00000454349.2	+	5	1254	c.1043C>G	c.(1042-1044)tCa>tGa	p.S348*	TNRC6B_ENST00000335727.9_Nonsense_Mutation_p.S348*|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	348					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						GAACAGCAGTCAAAGATGGAA	0.428000													24	64					0	0	0.003954	0	0
PRKDC	5591	broad.mit.edu	37	8	48711931	48711931	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:48711931C>T	ENST00000314191.2	-	73	10190	c.10134G>A	c.(10132-10134)caG>caA	p.Q3378Q	PRKDC_ENST00000338368.3_Silent_p.Q3378Q|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3379	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)				GGAATGCTCTCTGGTACAGAC	0.552000								Non-homologous end-joining					59	93					0	0	0.003610	0	0
NBPF10	100132406	broad.mit.edu	37	1	145293519	145293519	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:145293519C>G	ENST00000342960.5	+	1	149	c.114C>G	c.(112-114)ctC>ctG	p.L38L	NBPF10_ENST00000369339.3_Silent_p.L38L|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	38										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TCAGAAACCTCAAAGAGAAAT	0.473000													74	874					0	0	0.003610	0	0
MYL6	4637	broad.mit.edu	37	12	56553863	56553863	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:56553863C>T	ENST00000551589.1	+	4	313	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	MYL6_ENST00000547649.1_Missense_Mutation_p.R94W|MYL6_ENST00000293422.5_Missense_Mutation_p.R95W|MYL6_ENST00000550697.1_Missense_Mutation_p.R94W|MYL6_ENST00000348108.4_Missense_Mutation_p.R95W|MYL6_ENST00000547408.1_Missense_Mutation_p.R94W|MYL6_ENST00000548580.1_Missense_Mutation_p.R46W|MYL6_ENST00000536128.1_Missense_Mutation_p.R187W|MYL6_ENST00000548293.1_Missense_Mutation_p.R94W|MYL6_ENST00000549017.1_5'UTR|MYL6_ENST00000549566.1_Missense_Mutation_p.R139W|MYL6_ENST00000548400.1_Missense_Mutation_p.R58W			P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	94	EF-hand 2.				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			CGAAGGACTTCGGGTGTTTGA	0.512000													27	63					0	0	0.005443	0	0
KIAA2018	205717	broad.mit.edu	37	3	113378767	113378767	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:113378767G>C	ENST00000316407.4	-	7	2172	c.1762C>G	c.(1762-1764)Cag>Gag	p.Q588E	KIAA2018_ENST00000478658.1_Missense_Mutation_p.Q588E|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	588					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AAAGGATTCTGATTAGCAGCC	0.478000													21	102					0	0	0.008871	0	0
BRD4	23476	broad.mit.edu	37	19	15349940	15349940	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:15349940C>T	ENST00000263377.2	-	18	3933	c.3712G>A	c.(3712-3714)Gag>Aag	p.E1238K		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1238					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AGGGCCTTCTCACGCTCCTCT	0.662000			T	C15orf55	lethal midline carcinoma of young people								12	11					0	0	0.001368	0	0
AHNAK	79026	broad.mit.edu	37	11	62289440	62289440	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:62289440G>A	ENST00000378024.4	-	5	12723	c.12449C>T	c.(12448-12450)tCt>tTt	p.S4150F	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4150					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTGGGCAGAGAAACGTCCAC	0.522000													45	132					0	0	0.008740	0	0
ATP8B1	5205	broad.mit.edu	37	18	55322535	55322535	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:55322535C>T	ENST00000536015.1	-	23	2941	c.2822G>A	c.(2821-2823)cGa>cAa	p.R941Q	RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.R941Q|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA	NM_005603.4	NP_005594	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	941					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GTAAGACCATCGGCCATGCAC	0.433000													30	96					0	0	0.007291	0	0
KIF4B	285643	broad.mit.edu	37	5	154393975	154393975	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:154393975G>T	ENST00000435029.4	+	1	716	c.556G>T	c.(556-558)Gat>Tat	p.D186Y		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	186	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGTTGCCTTGGATACTGTTTC	0.468000													10	224					0.00621372	0.00815111	0.006214	1	0
TNRC6A	27327	broad.mit.edu	37	16	24802034	24802034	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:24802034C>T	ENST00000395799.3	+	6	2200	c.2071C>T	c.(2071-2073)Cag>Tag	p.Q691*	TNRC6A_ENST00000315183.7_Nonsense_Mutation_p.Q691*	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	691	Sufficient for interaction with EIF2C1 and EIF2C4.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGGGGAAAGTCAGAGTAGAGA	0.473000													23	55					0	0	0.002780	0	0
CLTC	1213	broad.mit.edu	37	17	57743597	57743597	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:57743597C>G	ENST00000269122.3	+	11	2052	c.1778C>G	c.(1777-1779)cCt>cGt	p.P593R	CLTC_ENST00000393043.1_Missense_Mutation_p.P593R|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	593	Distal segment.|Heavy chain arm.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATGCATGCGCCTCAAGTATGT	0.433000			T	"""ALK, TFE3"""	"""ALCL, renal """								10	100					0	0	0.000978	0	0
FBXL17	64839	broad.mit.edu	37	5	107521822	107521822	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:107521822C>T	ENST00000542267.1	-	6	2147	c.1741G>A	c.(1741-1743)Gac>Aac	p.D581N	FBXL17_ENST00000359660.5_Missense_Mutation_p.D183N|FBXL17_ENST00000496714.1_Missense_Mutation_p.D183N	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	581										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		GGTTACCTGTCATTTATGATC	0.313000													6	45					0	0	0.001984	0	0
CACNA1G	8913	broad.mit.edu	37	17	48678510	48678510	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:48678510G>A	ENST00000352832.5	+	18	4193	c.3821G>A	c.(3820-3822)cGc>cAc	p.R1274H	CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1274H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1274H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1274H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1297H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1274H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1274H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1274H|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R1297H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1297H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1274H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1297H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R1297H	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1297					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCATGGAGCGCCCCAAAATT	0.592000													31	35					0	0	0.007291	0	0
LARP1	23367	broad.mit.edu	37	5	154173531	154173531	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:154173531G>T	ENST00000336314.4	+	6	833	c.809G>T	c.(808-810)gGc>gTc	p.G270V		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	347							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGTGGTCGCGGCCGGGGACGC	0.692000													6	80					3.59834e-05	4.78992e-05	0.001168	1	0
DSG2	1829	broad.mit.edu	37	18	29126602	29126602	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:29126602C>G	ENST00000261590.8	+	15	3462	c.3253C>G	c.(3253-3255)Ctg>Gtg	p.L1085V	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	1085					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CCCTGGCCCTCTGCCAGATTT	0.478000													24	85					0	0	0.003954	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50657502	50657502	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:50657502C>G	ENST00000248846.5	-	20	4725	c.4621G>C	c.(4621-4623)Gag>Cag	p.E1541Q	TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1541					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCCACCTTCTCAAAGAGCAGG	0.657000													4	47					0	0	0.000602	0	0
RWDD1	51389	broad.mit.edu	37	6	116892761	116892761	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:116892761G>A	ENST00000466444.2	+	1	232	c.16G>A	c.(16-18)Gag>Aag	p.E6K	RWDD1_ENST00000487832.2_5'UTR|RWDD1_ENST00000517800.1_3'UTR|RWDD1_ENST00000392526.1_5'UTR	NM_015952.2	NP_057036.2	Q9H446	RWDD1_HUMAN	RWD domain containing 1	6							protein binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)	12		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)		AGATTACGGCGAGGAGCAGCG	0.677000													7	36					0	0	0.004482	0	0
LRFN1	57622	broad.mit.edu	37	19	39804803	39804803	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:39804803G>C	ENST00000248668.4	-	1	1173	c.1174C>G	c.(1174-1176)Ctg>Gtg	p.L392V		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	392						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGTGCCATCAGAGGCAGAGGT	0.672000													7	41					0	0	0.001984	0	0
ZNF133	7692	broad.mit.edu	37	20	18286394	18286394	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:18286394C>T	ENST00000377671.3	+	5	623	c.64C>T	c.(64-66)Caa>Taa	p.Q22*	ZNF133_ENST00000535822.1_Intron|ZNF133_ENST00000402618.2_5'UTR|ZNF133_ENST00000396026.3_Nonsense_Mutation_p.Q25*|ZNF133_ENST00000538547.1_Intron|ZNF133_ENST00000316358.4_Nonsense_Mutation_p.Q22*|ZNF133_ENST00000401790.1_Nonsense_Mutation_p.Q22*	NM_001083330.2|NM_003434.4	NP_001076799.1|NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	22	KRAB.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						GAGCCCTGCTCAAAGGACTCT	0.512000													30	69					0	0	0.002096	0	0
RGAG1	57529	broad.mit.edu	37	X	109695911	109695911	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:109695911C>G	ENST00000465301.2	+	3	2312	c.2066C>G	c.(2065-2067)tCt>tGt	p.S689C	RGAG1_ENST00000540313.1_Missense_Mutation_p.S689C	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	689										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GCCACAGTCTCTGGAGGGATG	0.512000													26	21					0	0	0.005443	0	0
ARHGEF37	389337	broad.mit.edu	37	5	149006694	149006694	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:149006694C>G	ENST00000333677.6	+	11	1683	c.1520C>G	c.(1519-1521)cCt>cGt	p.P507R		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	507	SH3 1.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						AGGTATGGCCCTGGGAAGCTG	0.577000													25	146					0	0	0.003954	0	0
PCDHA9	9752	broad.mit.edu	37	5	140228108	140228108	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140228108G>C	ENST00000378122.3	+	1	752	c.28G>C	c.(28-30)Gag>Cag	p.E10Q	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.E10Q|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGATCCAGAGGGTCAGCC	0.493000													50	113					0	0	0.003610	0	0
SMC5	23137	broad.mit.edu	37	9	72962046	72962046	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:72962046G>C	ENST00000361138.5	+	20	2691	c.2633G>C	c.(2632-2634)aGa>aCa	p.R878T	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	878					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GAAAGATCAAGAGCTTCCTGC	0.418000													7	23					0	0	0.004482	0	0
MED13	9969	broad.mit.edu	37	17	60108955	60108955	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:60108955G>A	ENST00000397786.2	-	6	935	c.859C>T	c.(859-861)Cag>Tag	p.Q287*	MED13_ENST00000580896.1_5'UTR	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	287					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATGTCTGACTGAGGGACTAGA	0.468000													11	51					0	0	0.000978	0	0
ZBTB45	84878	broad.mit.edu	37	19	59025544	59025544	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:59025544C>T	ENST00000594051.1	-	3	1893	c.1413G>A	c.(1411-1413)aaG>aaA	p.K471K	ZBTB45_ENST00000354590.3_Silent_p.K471K|ZBTB45_ENST00000600990.1_Silent_p.K471K			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		TGAGCGAGCTCTTCTGCGTGA	0.682000													6	30					0	0	0.001984	0	0
IGHV3-9	28451	broad.mit.edu	37	14	106552446	106552446	+	RNA	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:106552446C>G	ENST00000390600.2	-	0	272																											GAGACCCACTCCAGGCCCTTC	0.552000													37	129					0	0	0.003755	0	0
MUC5AC	4586	broad.mit.edu	37	11	1157932	1157932	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:1157932C>G	ENST00000356191.2	+	13	990	c.990C>G	c.(988-990)ttC>ttG	p.F330L						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GCCCTGACTTCTGCCGTGAGT	0.687000													8	47					0	0	0.006214	0	0
CHST4	10164	broad.mit.edu	37	16	71571634	71571634	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:71571634G>A	ENST00000338482.5	+	3	1397	c.1054G>A	c.(1054-1056)Gat>Aat	p.D352N	ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Missense_Mutation_p.D352N|CHST4_ENST00000539698.3_Missense_Mutation_p.D352N			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	352					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	p.D352N(1)		cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						AGCCTGTGGCGATGCCATGAA	0.512000											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	77					0	0	0.002450	0	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31711763	31711763	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:31711763C>G	ENST00000493662.2	+	6	554	c.498C>G	c.(496-498)ctC>ctG	p.L166L	MSH5_ENST00000375703.3_Silent_p.L166L|MSH5_ENST00000375750.3_Silent_p.L166L|MSH5_ENST00000375740.3_Silent_p.L166L|MSH5_ENST00000375742.3_Silent_p.L166L|MSH5_ENST00000534153.4_Silent_p.L166L|MSH5_ENST00000482280.1_3'UTR|MSH5_ENST00000375755.3_Silent_p.L166L																							AGAAAATCCTCTTCCTCTCTT	0.517000													37	228					0	0	0.005524	0	0
GPR173	54328	broad.mit.edu	37	X	53106214	53106214	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:53106214C>G	ENST00000332582.4	+	2	902	c.411C>G	c.(409-411)ctC>ctG	p.L137L		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	137						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						GCATGACACTCTGGACATGCG	0.587000													28	14					0	0	0.005443	0	0
NOL9	79707	broad.mit.edu	37	1	6589194	6589194	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:6589194G>C	ENST00000377705.5	-	10	1717	c.1685C>G	c.(1684-1686)tCt>tGt	p.S562C		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	562					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		GGCGACATCAGAGTGGGTAAT	0.468000													6	46					0	0	0.001984	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73339501	73339501	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:73339501G>A	ENST00000258098.6	-	1	645	c.405C>T	c.(403-405)ttC>ttT	p.F135F		NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	135					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GGCCTGCGCCGAAGACCTCGT	0.711000													17	22					0	0	0.008871	0	0
LONP2	83752	broad.mit.edu	37	16	48329968	48329968	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:48329968C>T	ENST00000285737.4	+	9	1519	c.1426C>T	c.(1426-1428)Cta>Tta	p.L476L	LONP2_ENST00000535754.1_Silent_p.L432L	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	476					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AGATCATTATCTAAATGTGGC	0.393000													61	167					0	0	0.003610	0	0
HMHA1	23526	broad.mit.edu	37	19	1068607	1068607	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:1068607G>A	ENST00000313093.2	+	2	516	c.285G>A	c.(283-285)ctG>ctA	p.L95L	HMHA1_ENST00000586866.1_Silent_p.L99L|HMHA1_ENST00000539243.2_Silent_p.L111L|HMHA1_ENST00000536472.1_Intron|HMHA1_ENST00000590214.1_Silent_p.L122L	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	95					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGCCCACTGACAGCCGCCA	0.741000													8	30					0	0	0.003080	0	0
FANCI	55215	broad.mit.edu	37	15	89836185	89836185	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:89836185G>C	ENST00000310775.7	+	22	2268	c.2182G>C	c.(2182-2184)Gat>Cat	p.D728H	FANCI_ENST00000300027.8_Missense_Mutation_p.D728H	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	728					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					TAAATCAGCAGATTTTTCTCA	0.328000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				29	88					0	0	0.007291	0	0
MYPN	84665	broad.mit.edu	37	10	69926110	69926110	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:69926110G>A	ENST00000358913.5	+	10	2148	c.1660G>A	c.(1660-1662)Gca>Aca	p.A554T	MYPN_ENST00000540630.1_Missense_Mutation_p.A554T|MYPN_ENST00000354393.2_Missense_Mutation_p.A279T	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	554						nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CACCAACCTGGCAGCTATTGA	0.552000													11	56					0	0	0.001855	0	0
RHNO1	83695	broad.mit.edu	37	12	2997219	2997219	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:2997219C>T	ENST00000489288.2	+	3	463	c.311C>T	c.(310-312)tCa>tTa	p.S104L	RHNO1_ENST00000464682.2_3'UTR|RHNO1_ENST00000461997.2_Missense_Mutation_p.S90L	NM_001252499.2|NM_001257097.1|NM_001257098.1	NP_001239428.1|NP_001244026.1|NP_001244027.1			RAD9-HUS1-RAD1 interacting nuclear orphan 1																		TCTTCCAGTTCAGAGACATTG	0.493000													8	50					0	0	0.004482	0	0
MALAT1	378938	broad.mit.edu	37	11	65269315	65269315	+	RNA	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:65269315G>C	ENST00000534336.1	+	0	4083					NR_002819.2																						TATTAAAGGGGAGGGGCAAAT	0.388000													3	19					0	0	0.004672	0	0
TRPM4	54795	broad.mit.edu	37	19	49661514	49661514	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:49661514G>A	ENST00000252826.5	+	2	216	c.90G>A	c.(88-90)ccG>ccA	p.P30P	TRPM4_ENST00000427978.2_Silent_p.P30P|TRPM4_ENST00000355712.5_5'UTR	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	30					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCACAGATCCGGGGTGAGGAG	0.627000													55	317					0	0	0.003610	0	0
RBMXL1	494115	broad.mit.edu	37	1	89449287	89449287	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:89449287C>A	ENST00000399794.2	-	3	938	c.223G>T	c.(223-225)Gat>Tat	p.D75Y	CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.D75Y|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000413769.1_5'UTR	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	75	RRM.						nucleotide binding|RNA binding										GCTTTTCCATCTAATGACTTT	0.478000											OREG0013593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	169					2.48254e-18	3.49363e-18	0.003610	1	0
LEMD3	23592	broad.mit.edu	37	12	65639552	65639552	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:65639552G>A	ENST00000308330.2	+	11	2517	c.2491G>A	c.(2491-2493)Gag>Aag	p.E831K		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	831	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		AAATTCACGTGAGGTAAAGTA	0.313000													34	60					0	0	0.002096	0	0
PHF1	5252	broad.mit.edu	37	6	33380560	33380560	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:33380560G>A	ENST00000374516.3	+	4	598	c.327G>A	c.(325-327)aaG>aaA	p.K109K	PHF1_ENST00000374512.3_Silent_p.K109K	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	109					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GCTGTGAGAAGTGTCGCCATG	0.577000													19	50					0	0	0.008871	0	0
DNAH10	196385	broad.mit.edu	37	12	124398924	124398924	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:124398924G>A	ENST00000409039.3	+	60	10072	c.10047G>A	c.(10045-10047)ctG>ctA	p.L3349L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3349					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGAAGCTGCTGGGGGACTGCC	0.607000													23	74					0	0	0.003954	0	0
YKT6	10652	broad.mit.edu	37	7	44250704	44250704	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:44250704C>G	ENST00000223369.2	+	6	629	c.542C>G	c.(541-543)tCt>tGt	p.S181C	YKT6_ENST00000447123.1_3'UTR|YKT6_ENST00000496112.1_Intron	NM_006555.3	NP_006546.1	O15498	YKT6_HUMAN	YKT6 v-SNARE homolog (S. cerevisiae)	181	v-SNARE coiled-coil homology.				ER to Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi|vesicle docking involved in exocytosis|vesicle targeting	cytoplasmic vesicle membrane|cytosol|endoplasmic reticulum|endosome|Golgi membrane|integral to plasma membrane|mitochondrion|SNARE complex	protein-cysteine S-palmitoleyltransferase activity|SNAP receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						GGAACACAGTCTAAAGCCTTC	0.502000													12	41					0	0	0.000978	0	0
DAAM1	23002	broad.mit.edu	37	14	59834201	59834201	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:59834201G>C	ENST00000395125.1	+	24	2934	c.2911G>C	c.(2911-2913)Gag>Cag	p.E971Q	DAAM1_ENST00000360909.3_Missense_Mutation_p.E961Q|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Missense_Mutation_p.E971Q	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	971	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		ACAACCAGATGAGTTCTTTGG	0.378000													14	62					0	0	0.003163	0	0
EIF4A3	9775	broad.mit.edu	37	17	78115614	78115614	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:78115614G>A	ENST00000269349.3	-	3	497	c.276C>T	c.(274-276)ttC>ttT	p.F92F		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	92	Helicase ATP-binding.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			CTGAGATACTGAAGGTGGCTG	0.438000													17	42					0	0	0.006122	0	0
STK17B	9262	broad.mit.edu	37	2	197010766	197010766	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:197010766C>T	ENST00000263955.4	-	4	635	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	STK17B_ENST00000409228.1_Missense_Mutation_p.E117K	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	117	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			CTGAAAATTTCTCCACCTGCA	0.313000													6	9					0	0	0.001168	0	0
SBF2	81846	broad.mit.edu	37	11	10014566	10014566	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:10014566G>A	ENST00000256190.8	-	11	1275	c.1138C>T	c.(1138-1140)Cat>Tat	p.H380Y	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	380	dDENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GGCTCTGCATGAATTCTTATA	0.318000													32	81					0	0	0.003271	0	0
TMEM45A	55076	broad.mit.edu	37	3	100277340	100277340	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:100277340C>T	ENST00000403410.1	+	6	1163	c.543C>T	c.(541-543)ctC>ctT	p.L181L	TMEM45A_ENST00000323523.4_Silent_p.L165L			Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	165						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						TGACAGGCCTCGTTGCCTTCC	0.502000													32	178					0	0	0.008361	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530815	140530815	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140530815C>T	ENST00000231136.1	+	1	977	c.977C>T	c.(976-978)tCa>tTa	p.S326L	PCDHB6_ENST00000543635.1_Missense_Mutation_p.S190L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		326	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGGCCTATCAGGAAAATGC	0.468000													17	48					0	0	0.004007	0	0
THSD7B	80731	broad.mit.edu	37	2	137852590	137852590	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:137852590G>A	ENST00000409968.1	+	4	1276	c.1098G>A	c.(1096-1098)cgG>cgA	p.R366R	THSD7B_ENST00000543459.1_Silent_p.R225R|THSD7B_ENST00000413152.2_Silent_p.R335R|THSD7B_ENST00000272643.3_Silent_p.R366R					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCAGGAGCCGGAACGTGAAGC	0.537000													7	47					0	0	0.003080	0	0
UBR2	23304	broad.mit.edu	37	6	42655960	42655960	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:42655960G>A	ENST00000372901.1	+	45	5118	c.4860G>A	c.(4858-4860)ccG>ccA	p.P1620P	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372899.1_Silent_p.P1620P			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1620					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GGAGGTGCCCGAAATCAGGTG	0.483000													17	119					0	0	0.004007	0	0
ABCA8	10351	broad.mit.edu	37	17	66899010	66899010	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:66899010G>C	ENST00000269080.2	-	19	2625	c.2488C>G	c.(2488-2490)Cta>Gta	p.L830V	ABCA8_ENST00000430352.2_Missense_Mutation_p.L870V|ABCA8_ENST00000586539.1_Missense_Mutation_p.L870V	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	830						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CCAGCCATTAGAATTAATAGC	0.348000													20	106					0	0	0.003954	0	0
C2CD3	26005	broad.mit.edu	37	11	73820130	73820130	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:73820130C>A	ENST00000334126.7	-	12	2137	c.1911G>T	c.(1909-1911)tgG>tgT	p.W637C	C2CD3_ENST00000313663.7_Missense_Mutation_p.W637C			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	637						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGTTGGAATTCCACCAGTGCT	0.433000													19	47					7.07596e-05	9.39604e-05	0.006122	1	0
MAP1S	55201	broad.mit.edu	37	19	17838864	17838864	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:17838864G>A	ENST00000324096.4	+	5	2822	c.2671G>A	c.(2671-2673)Ggt>Agt	p.G891S	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000597681.1_3'UTR|MAP1S_ENST00000544059.2_Missense_Mutation_p.G865S	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	891	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GGGGCTTGCTGGTGGGGACCG	0.682000													10	26					0	0	0.008291	0	0
CNOT1	23019	broad.mit.edu	37	16	58621270	58621270	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:58621270G>C	ENST00000317147.5	-	5	689	c.357C>G	c.(355-357)ctC>ctG	p.L119L	CNOT1_ENST00000441024.2_Silent_p.L119L|CNOT1_ENST00000569240.1_Silent_p.L119L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	119					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGCTTAATTTGAGCACTTTAC	0.323000													15	118					0	0	0.006122	0	0
PGLS	25796	broad.mit.edu	37	19	17631815	17631815	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:17631815G>A	ENST00000252603.2	+	5	746	c.702G>A	c.(700-702)ggG>ggA	p.G234G		NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	234						cytosol	6-phosphogluconolactonase activity			endometrium(1)|lung(1)	2						CCCACACCGGGAAACTGTGCT	0.652000													5	9					0	0	0.000602	0	0
ADCY10	55811	broad.mit.edu	37	1	167871047	167871047	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:167871047C>G	ENST00000367848.1	-	5	510	c.13G>C	c.(13-15)Gaa>Caa	p.E5Q	ADCY10_ENST00000367851.4_Intron|ADCY10_ENST00000545172.1_Intron			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	0					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GCATCACCTTCAGAGAGAGAC	0.458000													27	147					0	0	0.005443	0	0
RELA	5970	broad.mit.edu	37	11	65427190	65427190	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:65427190G>C	ENST00000525693.1	-	6	568	c.506C>G	c.(505-507)tCa>tGa	p.S169*	RELA_ENST00000406246.3_Nonsense_Mutation_p.S169*|RELA_ENST00000308639.9_Nonsense_Mutation_p.S166*			Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	169	RHD.				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GGGCCTGCCTGATGGGTCCCG	0.587000													26	74					0	0	0.007291	0	0
SLC25A52	147407	broad.mit.edu	37	18	29340499	29340499	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:29340499G>T	ENST00000269205.5	-	1	344	c.156C>A	c.(154-156)ttC>ttA	p.F52L	SLC25A52_ENST00000579441.2_Missense_Mutation_p.F42L	NM_001034172.2	NP_001029344.3	Q3SY17	MCAR2_HUMAN	solute carrier family 25, member 52	42					transport	integral to membrane|mitochondrial inner membrane											CGACGTTGTTGAAGGCTGCAC	0.438000													49	126					6.03219e-31	8.57818e-31	0.003610	1	0
OCA2	4948	broad.mit.edu	37	15	28277301	28277301	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:28277301G>T	ENST00000354638.3	-	3	391	c.236C>A	c.(235-237)tCt>tAt	p.S79Y	OCA2_ENST00000382996.2_Missense_Mutation_p.S79Y|OCA2_ENST00000353809.5_Missense_Mutation_p.S79Y	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	79					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GGGCAAAGAAGAGTGAGACCT	0.443000									Oculocutaneous Albinism				31	82					1.75199e-13	2.43598e-13	0.007291	1	0
CNNM2	54805	broad.mit.edu	37	10	104678701	104678701	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:104678701C>G	ENST00000369878.4	+	1	652	c.464C>G	c.(463-465)tCa>tGa	p.S155*	CNNM2_ENST00000433628.2_Nonsense_Mutation_p.S155*|CNNM2_ENST00000369875.3_Nonsense_Mutation_p.S155*	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2						ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ATCCGCACCTCAGACATCATC	0.677000													28	196					0	0	0.004656	0	0
CCDC114	93233	broad.mit.edu	37	19	48801464	48801464	+	Silent	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:48801464G>T	ENST00000315396.7	-	11	1945	c.1263C>A	c.(1261-1263)ctC>ctA	p.L421L		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	421										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GCACTGTCAGGAGCTCCACCA	0.652000													15	56					3.27435e-08	4.43869e-08	0.002450	1	0
TRAFD1	10906	broad.mit.edu	37	12	112585913	112585913	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:112585913C>T	ENST00000257604.5	+	8	1580	c.963C>T	c.(961-963)ctC>ctT	p.L321L	TRAFD1_ENST00000412615.2_Silent_p.L321L	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	321					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						TACCTTCACTCAATACTGGCA	0.423000													15	47					0	0	0.003163	0	0
SLC25A33	84275	broad.mit.edu	37	1	9633411	9633411	+	Silent	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:9633411C>A	ENST00000302692.6	+	5	633	c.423C>A	c.(421-423)atC>atA	p.I141I		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	141					transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		CAGCTTTTATCACAAATTCCT	0.294000													6	20					0.00116845	0.00154398	0.001168	1	0
ZNF549	256051	broad.mit.edu	37	19	58049333	58049333	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:58049333G>A	ENST00000376233.3	+	4	1142	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.E308K|ZNF549_ENST00000594943.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTCACTTGTGGAACACCAGAG	0.438000													21	90					0	0	0.001523	0	0
ZNF555	148254	broad.mit.edu	37	19	2853858	2853858	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:2853858C>T	ENST00000334241.4	+	4	1933	c.1795C>T	c.(1795-1797)Cct>Tct	p.P599S	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.P598S	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTAGGACATCCTCCTGCAAA	0.388000													15	87					0	0	0.004007	0	0
GPR75	10936	broad.mit.edu	37	2	54080974	54080974	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:54080974G>A	ENST00000394705.2	-	2	1190	c.920C>T	c.(919-921)tCa>tTa	p.S307L	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	307						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GTTGATGGCTGATACGAGCTG	0.532000													11	41					0	0	0.008291	0	0
APOBEC3B	9582	broad.mit.edu	37	22	39378461	39378461	+	Translation_Start_Site	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:39378461G>C	ENST00000402182.3	+	1	58	c.3G>C	c.(1-3)atG>atC	p.M1I	APOBEC3B_ENST00000333467.3_Start_Codon_SNP_p.M1I|APOBEC3B_ENST00000407298.3_Start_Codon_SNP_p.M1I			Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	1					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					GGCTGAACATGAATCCACAGA	0.597000													30	19					0	0	0.002445	0	0
TMED8	283578	broad.mit.edu	37	14	77808143	77808143	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:77808143G>C	ENST00000216468.7	-	6	1004	c.949C>G	c.(949-951)Ctc>Gtc	p.L317V		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	317	GOLD.				transport	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TGGAAGTAGAGAGTCTTGTTG	0.577000													38	86					0	0	0.002522	0	0
TMEM179B	374395	broad.mit.edu	37	11	62557518	62557518	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:62557518G>A	ENST00000333449.4	+	5	664	c.659G>A	c.(658-660)tGa>tAa	p.*220*	TMEM223_ENST00000525631.1_Intron|TMEM223_ENST00000307366.7_3'UTR|TMEM179B_ENST00000533861.1_3'UTR|TMEM223_ENST00000527073.1_Intron	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	0						integral to membrane				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						TCCCATTCCTGAAGAATAAGC	0.562000													19	42					0	0	0.008871	0	0
MSMO1	6307	broad.mit.edu	37	4	166254535	166254535	+	Missense_Mutation	SNP	G	G	A	rs146748626	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:166254535G>A	ENST00000261507.6	+	2	186	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	MSMO1_ENST00000504317.1_Missense_Mutation_p.E5K|MSMO1_ENST00000393766.2_Intron	NM_006745.4	NP_006736.1	Q15800	ERG25_HUMAN	methylsterol monooxygenase 1	5					cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding									NADH(DB00157)	GGCAACAAATGAAAGTGTCAG	0.323000													21	56					0	0	0.003330	0	0
RAVER2	55225	broad.mit.edu	37	1	65243754	65243754	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:65243754C>T	ENST00000294428.3	+	3	843	c.765C>T	c.(763-765)gtC>gtT	p.V255V	RAVER2_ENST00000371072.4_Silent_p.V255V|RAVER2_ENST00000430964.2_5'UTR			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	255	RRM 3.					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TTTCCAGTGTCCATAAACCTG	0.318000													22	49					0	0	0.003330	0	0
PDPK1	5170	broad.mit.edu	37	16	2647748	2647748	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:2647748C>G	ENST00000342085.4	+	14	1800	c.1651C>G	c.(1651-1653)Ccg>Gcg	p.P551A	PDPK1_ENST00000354836.5_Missense_Mutation_p.P527A|PDPK1_ENST00000441549.3_3'UTR|PDPK1_ENST00000268673.7_Missense_Mutation_p.P424A|PDPK1_ENST00000389224.3_Missense_Mutation_p.P524A	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase-1	551					actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	CCAGAGCCACCCGGACGCCGC	0.662000													14	35					0	0	0.002450	0	0
ABCG4	64137	broad.mit.edu	37	11	119027643	119027643	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:119027643G>C	ENST00000307417.3	+	9	1351	c.987G>C	c.(985-987)caG>caC	p.Q329H	AP002956.1_ENST00000599663.1_Intron|ABCG4_ENST00000531739.1_Missense_Mutation_p.Q329H|ABCG4_ENST00000449422.2_Missense_Mutation_p.Q329H	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	329					cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGGCTGTGCAGAATGGGCTGT	0.582000													22	98					0	0	0.002780	0	0
MAPT	4137	broad.mit.edu	37	17	44061213	44061213	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:44061213A>T	ENST00000344290.5	+	6	1365	c.1043A>T	c.(1042-1044)gAg>gTg	p.E348V	MAPT_ENST00000571987.1_Missense_Mutation_p.E348V|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.E348V|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.E348V|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000576518.1_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	348					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				GACACAAAAGAGGCTGACCTT	0.637000													27	98					0	0	0.005443	0	0
PFN3	345456	broad.mit.edu	37	5	176827416	176827416	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:176827416C>T	ENST00000358571.2	-	1	221	c.162G>A	c.(160-162)ccG>ccA	p.P54P		NM_001029886.2	NP_001025057.1	P60673	PROF3_HUMAN	profilin 3	54					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin binding			lung(1)	1	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			TGTGCCTGTCCGGCCCCGTGA	0.746000													4	5					0	0	0.000248	0	0
SLC26A9	115019	broad.mit.edu	37	1	205892252	205892252	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:205892252C>T	ENST00000367135.3	-	16	1844	c.1731G>A	c.(1729-1731)atG>atA	p.M577I	SLC26A9_ENST00000340781.4_Missense_Mutation_p.M577I|SLC26A9_ENST00000367134.2_Missense_Mutation_p.M577I	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	577	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GTGTGGGCCTCATTCTCCGCT	0.522000													23	101					0	0	0.003954	0	0
DHX35	60625	broad.mit.edu	37	20	37662928	37662928	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:37662928G>C	ENST00000252011.3	+	21	2068	c.2035G>C	c.(2035-2037)Gag>Cag	p.E679Q	DHX35_ENST00000373325.2_Missense_Mutation_p.E655Q|DHX35_ENST00000373323.4_Missense_Mutation_p.E648Q	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	679						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CTGGCTGTTGGAGCTGGCTCC	0.448000													33	78					0	0	0.005524	0	0
SZT2	23334	broad.mit.edu	37	1	43908143	43908143	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:43908143G>C	ENST00000562955.1	+	57	7834	c.7834G>C	c.(7834-7836)Gac>Cac	p.D2612H	SZT2_ENST00000372442.1_Missense_Mutation_p.D1770H	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2669						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTGGGCTCCAGACCTGGGGGC	0.617000													24	55					0	0	0.003330	0	0
MAP6	4135	broad.mit.edu	37	11	75298605	75298605	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:75298605C>T	ENST00000304771.3	-	4	2691	c.1941G>A	c.(1939-1941)ccG>ccA	p.P647P	CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Silent_p.P318P	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	647	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TTTCATCCTTCGGATGCTCTG	0.512000													58	129					0	0	0.003610	0	0
C10orf67	256815	broad.mit.edu	37	10	23611391	23611391	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:23611391C>G	ENST00000323327.4	-	3	473	c.406G>C	c.(406-408)Gag>Cag	p.E136Q		NM_153714.2	NP_714925.2	Q8IYJ2	CJ067_HUMAN	chromosome 10 open reading frame 67	136										central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5						AAAGATTCCTCTTTCAGTCGG	0.348000													16	103					0	0	0.006122	0	0
ACTG1P17	283693	broad.mit.edu	37	15	83395260	83395260	+	RNA	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:83395260G>C	ENST00000560958.1	-	0	1026					NR_036446.1																						TCCTGTGTGTGATACTTGGGT	0.498000													5	7					0	0	0.000602	0	0
PPARG	5468	broad.mit.edu	37	3	12458253	12458253	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:12458253C>G	ENST00000397026.2	+	8	1187	c.804C>G	c.(802-804)atC>atG	p.I268M	PPARG_ENST00000309576.6_Missense_Mutation_p.I262M|PPARG_ENST00000397010.2_Missense_Mutation_p.I262M|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000287820.6_Missense_Mutation_p.I290M|PPARG_ENST00000397015.2_Missense_Mutation_p.I262M|PPARG_ENST00000397012.2_Missense_Mutation_p.I262M|PPARG_ENST00000539812.1_Intron			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	290	Interaction with FAM120B (By similarity).				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	AAGATAAAATCAAGTTCAAAC	0.473000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						17	27					0	0	0.004990	0	0
KRT12	3859	broad.mit.edu	37	17	39022938	39022938	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:39022938C>T	ENST00000251643.4	-	1	524	c.501G>A	c.(499-501)ggG>ggA	p.G167G		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	167	Linker 1.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				CATCTGCAGTCCCAGTTCCTC	0.413000													46	146					0	0	0.003214	0	0
ANKRD12	23253	broad.mit.edu	37	18	9255144	9255144	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:9255144G>A	ENST00000262126.4	+	9	2119	c.1879G>A	c.(1879-1881)Gaa>Aaa	p.E627K	ANKRD12_ENST00000383440.2_Missense_Mutation_p.E604K|ANKRD12_ENST00000400020.3_Missense_Mutation_p.E604K	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12							nucleus		p.E627K(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AATAAAGGATGAAGATCATAG	0.284000													25	82					0	0	0.002780	0	0
REPS2	9185	broad.mit.edu	37	X	17040287	17040287	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:17040287G>A	ENST00000357277.3	+	3	610	c.439G>A	c.(439-441)Gag>Aag	p.E147K	REPS2_ENST00000303843.7_Missense_Mutation_p.E147K|REPS2_ENST00000380064.4_Missense_Mutation_p.E8K	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	147	EH 1.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					GAATGATGGTGAGATACGATT	0.388000													107	57					0	0	0.003610	0	0
SNORD3A	780851	broad.mit.edu	37	17	19091383	19091383	+	RNA	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:19091383G>A	ENST00000365494.1	+	0	55																											aagtttctctgaacgtgtaga	0.507000													30	354					0	0	0.003610	0	0
KNOP1	400506	broad.mit.edu	37	16	19726086	19726086	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:19726086C>G	ENST00000219837.7	-	2	350	c.272G>C	c.(271-273)aGa>aCa	p.R91T	AC002550.5_ENST00000565916.1_RNA	NM_001012991.2	NP_001013009.2			lysine-rich nucleolar protein 1																		CTCTGTCCGTCTAGCAGGCAG	0.507000													17	92					0	0	0.006122	0	0
ZNF441	126068	broad.mit.edu	37	19	11892012	11892012	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:11892012C>G	ENST00000357901.4	+	4	1475	c.1373C>G	c.(1372-1374)tCt>tGt	p.S458C	ZNF441_ENST00000454339.2_Missense_Mutation_p.S391C	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCCTTCAGGTCTTCCAATTAC	0.398000													28	43					0	0	0.005443	0	0
DUSP10	11221	broad.mit.edu	37	1	221876002	221876002	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:221876002C>G	ENST00000366899.3	-	4	1439	c.1201G>C	c.(1201-1203)Ggg>Cgg	p.G401R	DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000323825.3_Missense_Mutation_p.G59R|DUSP10_ENST00000544095.1_Missense_Mutation_p.G59R	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	401	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		AGCCCCTTCCCACACTGGTGA	0.522000													14	42					0	0	0.003163	0	0
OR5A2	219981	broad.mit.edu	37	11	59190117	59190117	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:59190117C>A	ENST00000302040.4	-	1	332	c.310G>T	c.(310-312)Gtc>Ttc	p.V104F		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						CCACAGAAGACAAAGTACTGA	0.507000													21	56					2.37509e-13	3.29953e-13	0.001523	1	0
NFE2	4778	broad.mit.edu	37	12	54686808	54686808	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:54686808G>A	ENST00000540264.2	-	2	981	c.472C>T	c.(472-474)Ctt>Ttt	p.L158F	RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000312156.4_Missense_Mutation_p.L158F|NFE2_ENST00000553070.1_Missense_Mutation_p.L158F|NFE2_ENST00000435572.2_Missense_Mutation_p.L158F			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	158	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						TCCAGCTCAAGAGATTCAGCA	0.572000													48	133					0	0	0.003610	0	0
IGSF10	285313	broad.mit.edu	37	3	151154669	151154669	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:151154669G>A	ENST00000282466.3	-	6	7679	c.7680C>T	c.(7678-7680)atC>atT	p.I2560I	MED12L_ENST00000474524.1_3'UTR|IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2560	Ig-like C2-type 12.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCTCCCATGTGATTTCTGGCT	0.522000													15	57					0	0	0.002450	0	0
OR5L2	26338	broad.mit.edu	37	11	55595152	55595152	+	Missense_Mutation	SNP	C	C	T	rs144590289	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:55595152C>T	ENST00000378397.1	+	1	458	c.458C>T	c.(457-459)aCg>aTg	p.T153M		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TTCTGTGGGACGGTGTGTTCT	0.488000										HNSCC(27;0.073)			35	127					0	0	0.004878	0	0
ATIC	471	broad.mit.edu	37	2	216213870	216213870	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:216213870C>T	ENST00000435675.1	+	14	1945	c.1554C>T	c.(1552-1554)ctC>ctT	p.L518L	ATIC_ENST00000540518.1_Silent_p.L460L|ATIC_ENST00000236959.9_Silent_p.L519L			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	519					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	CTGAGTTACTCACTGAGGCAG	0.448000			T	ALK	ALCL								34	87					0	0	0.003755	0	0
IQCG	84223	broad.mit.edu	37	3	197652965	197652965	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:197652965C>T	ENST00000265239.6	-	7	1080	c.656G>A	c.(655-657)gGa>gAa	p.G219E	IQCG_ENST00000455191.1_Missense_Mutation_p.G219E|IQCG_ENST00000453254.1_Missense_Mutation_p.G219E	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	219								p.G219V(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		CTGTTTTCTTCCTTTTTCCTC	0.368000													21	41					0	0	0.008871	0	0
MYBL1	4603	broad.mit.edu	37	8	67507965	67507965	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:67507965C>T	ENST00000522677.3	-	6	950	c.540G>A	c.(538-540)tgG>tgA	p.W180*	MYBL1_ENST00000524176.2_Nonsense_Mutation_p.W180*|MYBL1_ENST00000517885.1_Intron	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	180	HTH myb-type 3.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			TAGTAGAATTCCAATGATTTT	0.333000													4	6					0	0	0.000248	0	0
ZNF433	163059	broad.mit.edu	37	19	12125889	12125889	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:12125889G>C	ENST00000419886.2	-	5	1979	c.1688C>G	c.(1687-1689)tCt>tGt	p.S563C	ZNF433_ENST00000344980.6_Missense_Mutation_p.S598C|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	598					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						ACATCCAAAAGACTTCCCACA	0.468000													30	125					0	0	0.001786	0	0
REC8	9985	broad.mit.edu	37	14	24648862	24648862	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:24648862G>C	ENST00000311457.3	+	18	1977	c.1378G>C	c.(1378-1380)Gag>Cag	p.E460Q	REC8_ENST00000559939.1_3'UTR|REC8_ENST00000559919.1_Missense_Mutation_p.E460Q			O95072	REC8_HUMAN	REC8 meiotic recombination protein	461	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		TGAACTCCCTGAGGTGCCCAT	0.627000													27	68					0	0	0.003954	0	0
CPN1	1369	broad.mit.edu	37	10	101841262	101841262	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:101841262C>G	ENST00000370418.3	-	1	372	c.121G>C	c.(121-123)Gaa>Caa	p.E41Q		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	41	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CCGGGGCATTCGTTTTGCACC	0.597000													21	36					0	0	0.001882	0	0
CLDN14	23562	broad.mit.edu	37	21	37833718	37833718	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr21:37833718G>A	ENST00000399137.1	-	3	1142	c.276C>T	c.(274-276)ggC>ggT	p.G92G	CLDN14_ENST00000342108.2_Silent_p.G92G|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399139.1_Silent_p.G92G|AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000399135.1_Silent_p.G92G|CLDN14_ENST00000399136.1_Silent_p.G92G	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	92					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						CGCAGGCTATGCCCGAGAGCA	0.662000													26	36					0	0	0.004656	0	0
ZNF668	79759	broad.mit.edu	37	16	31075325	31075325	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:31075325G>A	ENST00000538906.1	-	2	1240	c.456C>T	c.(454-456)ctC>ctT	p.L152L	ZNF668_ENST00000535577.1_Silent_p.L152L|ZNF668_ENST00000539836.3_Silent_p.L175L|ZNF668_ENST00000300849.4_Silent_p.L152L|ZNF668_ENST00000426488.2_Silent_p.L175L|ZNF668_ENST00000394983.2_Silent_p.L152L	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TGAGCTTGGAGAGCGCGCCAT	0.672000													11	16					0	0	0.001368	0	0
CERS5	91012	broad.mit.edu	37	12	50536906	50536906	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:50536906G>A	ENST00000317551.6	-	3	509	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	CERS5_ENST00000422340.2_Missense_Mutation_p.R71W	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	129					ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TGATTCCTCCGATGGCGAAAC	0.478000													124	307					0	0	0.003610	0	0
DDX20	11218	broad.mit.edu	37	1	112309338	112309338	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:112309338G>C	ENST00000475700.1	+	3	3474	c.1116G>C	c.(1114-1116)ctG>ctC	p.L372L	DDX20_ENST00000369702.4_Silent_p.L764L			Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	764	Helicase C-terminal.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAATACGTCTGAGTTTTTCTG	0.453000													5	55					0	0	0.001984	0	0
OAS3	4940	broad.mit.edu	37	12	113376424	113376424	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:113376424G>A	ENST00000228928.7	+	1	268	c.89G>A	c.(88-90)cGg>cAg	p.R30Q	OAS3_ENST00000546638.1_3'UTR|OAS3_ENST00000548514.1_Missense_Mutation_p.R30Q|OAS3_ENST00000551007.1_Missense_Mutation_p.R30Q|RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	30	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GAGAAGGCGCGGCGCGCTCTG	0.721000													6	31					0	0	0.001984	0	0
OR6F1	343169	broad.mit.edu	37	1	247875277	247875277	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:247875277G>A	ENST00000302084.2	-	1	828	c.781C>T	c.(781-783)Cgc>Tgc	p.R261C	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ATAGAGGTGCGGACGTGAAGG	0.522000													15	71					0	0	0.002450	0	0
SLC6A3	6531	broad.mit.edu	37	5	1414876	1414876	+	Missense_Mutation	SNP	G	G	C	rs28363072		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:1414876G>C	ENST00000270349.9	-	8	1213	c.1086C>G	c.(1084-1086)ttC>ttG	p.F362L	SLC6A3_ENST00000453492.2_Missense_Mutation_p.F362L	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	362					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AGAAGACGACGAAGCCGGAGG	0.617000													14	62					0	0	0.004990	0	0
C5orf56	441108	broad.mit.edu	37	5	131796262	131796262	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:131796262C>G	ENST00000337752.2	+	4	228	c.97C>G	c.(97-99)Caa>Gaa	p.Q33E	C5orf56_ENST00000407797.1_Intron|C5orf56_ENST00000378953.4_Intron			Q8N8D9	CE056_HUMAN	chromosome 5 open reading frame 56	33										breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						agggaatcttcaaactcttct	0.552000													33	254					0	0	0.003755	0	0
LPHN2	23266	broad.mit.edu	37	1	82409390	82409390	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:82409390G>A	ENST00000370728.1	+	8	1780	c.1135G>A	c.(1135-1137)Gtg>Atg	p.V379M	LPHN2_ENST00000335786.5_Missense_Mutation_p.V379M|LPHN2_ENST00000370730.1_Missense_Mutation_p.V379M|LPHN2_ENST00000370721.1_Missense_Mutation_p.V383M|LPHN2_ENST00000370715.1_Missense_Mutation_p.V379M|LPHN2_ENST00000370727.1_Missense_Mutation_p.V379M|LPHN2_ENST00000271029.4_Missense_Mutation_p.V379M|LPHN2_ENST00000370713.1_Missense_Mutation_p.V379M|LPHN2_ENST00000394879.1_Missense_Mutation_p.V379M|LPHN2_ENST00000359929.3_Missense_Mutation_p.V379M|LPHN2_ENST00000370717.2_Missense_Mutation_p.V379M|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.V379M|LPHN2_ENST00000319517.6_Missense_Mutation_p.V379M|LPHN2_ENST00000370723.1_Missense_Mutation_p.V379M			O95490	LPHN2_HUMAN	latrophilin 2	379	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CCAACTTTACGTGTGGAACAA	0.408000													24	91					0	0	0.002780	0	0
IFIT3	3437	broad.mit.edu	37	10	91099478	91099478	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:91099478G>A	ENST00000371818.4	+	2	1246	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	IFIT3_ENST00000371811.4_Missense_Mutation_p.E356K|LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	356					type I interferon-mediated signaling pathway		protein binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						CCCTGATGCTGAAAAGCAACA	0.453000													27	38					0	0	0.003954	0	0
WNT6	7475	broad.mit.edu	37	2	219738481	219738481	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:219738481G>C	ENST00000233948.3	+	4	1229	c.1012G>C	c.(1012-1014)Gag>Cag	p.E338Q		NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	338					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGCTCGAAGAGAACTGCCT	0.711000													3	14					0	0	0.004672	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36096603	36096603	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:36096603C>G	ENST00000258840.6	-	34	5563	c.5173G>C	c.(5173-5175)Gaa>Caa	p.E1725Q	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.E1691Q|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.E1678Q|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.E1678Q	NM_001283044.1	NP_001269973.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1678	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGAACATCTTCTTCATCTCTT	0.368000													11	121					0	0	0.000978	0	0
C19orf45	374877	broad.mit.edu	37	19	7569023	7569023	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:7569023C>T	ENST00000361664.2	+	3	735	c.594C>T	c.(592-594)ctC>ctT	p.L198L		NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	198										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						CCAACACCCTCAAGTGGGACT	0.547000													7	34					0	0	0.003080	0	0
SLC5A2	6524	broad.mit.edu	37	16	31500575	31500575	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:31500575C>G	ENST00000330498.3	+	12	1600	c.1581C>G	c.(1579-1581)ctC>ctG	p.L527L		NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	527					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						TGCACTACCTCTACTTCGCCA	0.642000													13	43					0	0	0.001855	0	0
TTC25	83538	broad.mit.edu	37	17	40095357	40095357	+	RNA	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:40095357G>C	ENST00000591658.1	+	0	1058							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding	p.Q330Q(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				GGAATGCCCAGATTGAGCTGG	0.537000													9	35					0	0	0.004482	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610264	47610264	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:47610264G>A	ENST00000371891.3	+	8	971	c.940G>A	c.(940-942)Gag>Aag	p.E314K	CYP4A22_ENST00000485117.1_Intron|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Intron|CYP4A22_ENST00000294337.3_Missense_Mutation_p.E314K	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	314						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	p.E314Q(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTCCGTGCTGAGGTGGACAC	0.552000													14	129					0	0	0.003954	0	0
MUC16	94025	broad.mit.edu	37	19	9084097	9084097	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:9084097G>A	ENST00000397910.4	-	1	7921	c.7718C>T	c.(7717-7719)tCt>tTt	p.S2573F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2573	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTGGTGAAGAATGAATGGC	0.502000													28	102					0	0	0.006320	0	0
PKD2L1	9033	broad.mit.edu	37	10	102089772	102089772	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:102089772G>A	ENST00000318222.3	-	1	471	c.89C>T	c.(88-90)tCc>tTc	p.S30F	PKD2L1_ENST00000353274.3_Missense_Mutation_p.S30F|PKD2L1_ENST00000338519.3_Missense_Mutation_p.S30F	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	30					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)		CCCGTGTGGGGAAGGGGGACC	0.622000													39	80					0	0	0.002222	0	0
DMBT1	1755	broad.mit.edu	37	10	124390773	124390773	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:124390773G>A	ENST00000338354.3	+	46	6041	c.5935G>A	c.(5935-5937)Gaa>Aaa	p.E1979K	DMBT1_ENST00000359586.6_Missense_Mutation_p.E699K|DMBT1_ENST00000368955.3_Missense_Mutation_p.E1969K|DMBT1_ENST00000368909.3_Missense_Mutation_p.E1979K|DMBT1_ENST00000344338.3_Missense_Mutation_p.E1969K|DMBT1_ENST00000330163.4_Missense_Mutation_p.E1351K|DMBT1_ENST00000368956.2_Missense_Mutation_p.E1351K			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1979	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TAATCATCGTGAAGATGCTGG	0.537000													30	139					0	0	0.003271	0	0
SMYD2	56950	broad.mit.edu	37	1	214505378	214505378	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:214505378G>A	ENST00000366957.5	+	10	977	c.955G>A	c.(955-957)Gag>Aag	p.E319K	SMYD2_ENST00000415093.2_Intron|SMYD2_ENST00000491455.1_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	319					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		TGAGCTGCTGGAGATCTGCGA	0.562000											OREG0012979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	38					0	0	0.003080	0	0
ITGA6	3655	broad.mit.edu	37	2	173355768	173355768	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:173355768G>A	ENST00000375221.2	+	22	3016	c.2813G>A	c.(2812-2814)aGa>aAa	p.R938K	ITGA6_ENST00000264106.6_Missense_Mutation_p.R938K|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409080.1_Missense_Mutation_p.R899K|ITGA6_ENST00000409532.1_Missense_Mutation_p.R780K|ITGA6_ENST00000343713.4_Missense_Mutation_p.R894K|ITGA6_ENST00000264107.7_Missense_Mutation_p.R899K			P23229	ITA6_HUMAN	integrin, alpha 6	938					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			CACAACTCAAGAAAGAAACGG	0.308000													35	191					0	0	0.003755	0	0
USP24	23358	broad.mit.edu	37	1	55595217	55595217	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:55595217C>T	ENST00000294383.6	-	32	3567	c.3568G>A	c.(3568-3570)Gat>Aat	p.D1190N	USP24_ENST00000407756.1_Missense_Mutation_p.D1030N	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1190					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ATGTCATCATCAGCTGTTGGC	0.398000													9	60					0	0	0.004482	0	0
SLC16A5	9121	broad.mit.edu	37	17	73089809	73089809	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:73089809C>T	ENST00000450736.2	+	2	493	c.78C>T	c.(76-78)ctC>ctT	p.L26L	SLC16A5_ENST00000329783.4_Silent_p.L26L|SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000580123.1_Silent_p.L26L|SLC16A5_ENST00000538213.2_Silent_p.L66L			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	26					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CCCAGGGCCTCACCCTGGGCT	0.637000													27	85					0	0	0.004656	0	0
CHD9	80205	broad.mit.edu	37	16	53352139	53352139	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:53352139G>A	ENST00000566029.1	+	37	7761	c.7552G>A	c.(7552-7554)Gag>Aag	p.E2518K	CHD9_ENST00000447540.1_Missense_Mutation_p.E2519K|CHD9_ENST00000398510.3_Missense_Mutation_p.E2534K|CHD9_ENST00000564845.1_Missense_Mutation_p.E2518K			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2534					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GCAGCTTCATGAGGGAAGACC	0.338000													12	33					0	0	0.001368	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140788139	140788139	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140788139G>A	ENST00000520790.1	+	1	370	c.370G>A	c.(370-372)Gag>Aag	p.E124K	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGGTGATTGAGGATGTTAA	0.398000													47	88					0	0	0.003610	0	0
DHRS13	147015	broad.mit.edu	37	17	27228278	27228278	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:27228278G>A	ENST00000394901.3	-	3	654	c.262C>T	c.(262-264)Ctg>Ttg	p.L88L	DHRS13_ENST00000378895.4_Silent_p.L138L|DHRS13_ENST00000426464.2_Silent_p.L57L			Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	138						extracellular region	binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			ACCCGAAGCAGCAGGTTAAAC	0.602000													11	141					0	0	0.000978	0	0
DHX35	60625	broad.mit.edu	37	20	37662949	37662949	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:37662949C>G	ENST00000252011.3	+	21	2089	c.2056C>G	c.(2056-2058)Caa>Gaa	p.Q686E	DHX35_ENST00000373325.2_Missense_Mutation_p.Q662E|DHX35_ENST00000373323.4_Missense_Mutation_p.Q655E	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	686						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				ACACTTTTATCAACAAGGAAC	0.448000													25	74					0	0	0.005443	0	0
BIRC6	57448	broad.mit.edu	37	2	32678919	32678919	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:32678919C>T	ENST00000421745.2	+	23	4796	c.4662C>T	c.(4660-4662)ttC>ttT	p.F1554F		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1554					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGGGTAGTTTCACATCTCTCA	0.383000													70	125					0	0	0.003610	0	0
IRF6	3664	broad.mit.edu	37	1	209974644	209974644	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:209974644G>C	ENST00000367021.3	-	3	287	c.115C>G	c.(115-117)Ccc>Gcc	p.P39A	IRF6_ENST00000542854.1_Intron	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	39			P -> A (in VWS).		cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TGTTTCCAGGGAATCTGGAAG	0.512000										HNSCC(57;0.16)			15	120					0	0	0.004007	0	0
CASP1	834	broad.mit.edu	37	11	104903799	104903799	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:104903799G>A	ENST00000533400.1	-	3	364	c.329C>T	c.(328-330)tCc>tTc	p.S110F	CASP1_ENST00000594519.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000527979.1_Intron|CASP1_ENST00000526568.1_Intron|CASP1_ENST00000525825.1_Intron|CASP1_ENST00000598974.1_Missense_Mutation_p.S110F|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000393136.4_Intron|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000528974.1_Missense_Mutation_p.S71F|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.S110F	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	110					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	ACCTGGAAAGGAAGAAAGTAC	0.368000													14	37					0	0	0.004990	0	0
FANCI	55215	broad.mit.edu	37	15	89835963	89835963	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:89835963G>C	ENST00000310775.7	+	21	2123	c.2037G>C	c.(2035-2037)aaG>aaC	p.K679N	FANCI_ENST00000300027.8_Missense_Mutation_p.K679N	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	679					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CCTGGTATAAGAATACAGTCA	0.378000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				29	58					0	0	0.006320	0	0
TDRD6	221400	broad.mit.edu	37	6	46660346	46660346	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:46660346G>C	ENST00000544460.1	+	1	4735	c.4481G>C	c.(4480-4482)aGt>aCt	p.S1494T	TDRD6_ENST00000316081.6_Missense_Mutation_p.S1494T	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1494					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTAATTAAAAGTGCCAGTTCA	0.348000													10	68					0	0	0.008291	0	0
SVIL	6840	broad.mit.edu	37	10	29820964	29820964	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:29820964G>T	ENST00000375398.2	-	11	2425	c.1976C>A	c.(1975-1977)cCt>cAt	p.P659H	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Missense_Mutation_p.P659H			O95425	SVIL_HUMAN	supervillin	659					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGAAGTTATAGGTTGGGTTCT	0.488000													18	139					1.15919e-05	1.55195e-05	0.008871	1	0
BTBD10	84280	broad.mit.edu	37	11	13435141	13435141	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:13435141C>T	ENST00000278174.5	-	6	989	c.744G>A	c.(742-744)ctG>ctA	p.L248L	BTBD10_ENST00000530907.1_Silent_p.L256L|BTBD10_ENST00000528120.1_Silent_p.L200L	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	248						nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		ATGCTTCTCTCAGTTCAGGAA	0.328000													8	61					0	0	0.003080	0	0
NF1	4763	broad.mit.edu	37	17	29552264	29552264	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:29552264C>G	ENST00000358273.4	+	17	2380	c.1997C>G	c.(1996-1998)tCt>tGt	p.S666C	NF1_ENST00000356175.3_Missense_Mutation_p.S666C	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	666					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGGAACTCCTCTATGGTCAGC	0.373000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			16	111					0	0	0.007413	0	0
MALAT1	378938	broad.mit.edu	37	11	65268884	65268884	+	RNA	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:65268884G>A	ENST00000534336.1	+	0	3652					NR_002819.2																						GTCTGTGGAAGAGATGTCCAT	0.383000													4	25					0	0	0.000602	0	0
S1PR2	9294	broad.mit.edu	37	19	10335096	10335096	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:10335096G>A	ENST00000590320.1	-	2	596	c.486C>T	c.(484-486)ctC>ctT	p.L162L		NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	162					activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GCAGGCCACCGAGGACCAGCG	0.627000													22	54					0	0	0.002299	0	0
DSC2	1824	broad.mit.edu	37	18	28673588	28673588	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:28673588C>G	ENST00000280904.6	-	2	531	c.88G>C	c.(88-90)Gat>Cat	p.D30H	DSC2_ENST00000251081.6_Missense_Mutation_p.D30H	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	30					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TTGCAGGCATCACTGGCAAAT	0.269000													54	135					0	0	0.003610	0	0
PRPF4	9128	broad.mit.edu	37	9	116053935	116053935	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:116053935G>C	ENST00000374199.4	+	14	1962	c.1561G>C	c.(1561-1563)Gaa>Caa	p.E521Q	PRPF4_ENST00000374198.4_Missense_Mutation_p.E522Q			O43172	PRP4_HUMAN	pre-mRNA processing factor 4	522				A -> L (in Ref. 1; AAB87640).		Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GTGGATGGCTGAATAGATGAC	0.453000													20	17					0	0	0.007413	0	0
FAM46B	115572	broad.mit.edu	37	1	27332842	27332842	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:27332842G>A	ENST00000289166.5	-	2	1036	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	291										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		GGCCGGGGCCGGAAGCCCCGC	0.677000													7	33					0	0	0.003080	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102502930	102502930	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:102502930G>A	ENST00000360184.4	+	57	11023	c.10859G>A	c.(10858-10860)aGa>aAa	p.R3620K	RP11-1017G21.4_ENST00000557551.1_RNA|DYNC1H1_ENST00000556791.1_3'UTR	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3620	AAA 5 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GACGCCTTCAGAAAGAACTTA	0.468000													40	118					0	0	0.007835	0	0
RSPH10B	222967	broad.mit.edu	37	7	5983622	5983622	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:5983622C>T	ENST00000405415.1	-	13	1916		c.e13-1		RSPH10B_ENST00000441023.2_Splice_Site|RSPH10B_ENST00000535104.1_Intron|RSPH10B_ENST00000404406.1_Splice_Site|RSPH10B_ENST00000337579.3_Splice_Site|RSPH10B_ENST00000539903.1_Intron			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)											breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		GCTTCTCTTTCTGTGATAATC	0.393000													14	36					0	0	0.002780	0	0
DNMT1	1786	broad.mit.edu	37	19	10250949	10250949	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:10250949G>A	ENST00000340748.4	-	32	3766	c.3531C>T	c.(3529-3531)ttC>ttT	p.F1177F	DNMT1_ENST00000359526.4_Silent_p.F1193F|DNMT1_ENST00000589538.1_Intron|DNMT1_ENST00000540357.1_Silent_p.F1177F			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1177	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TGTTCAGCCGGAACGCCTGGG	0.612000													17	55					0	0	0.004990	0	0
KIAA0947	23379	broad.mit.edu	37	5	5464123	5464123	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:5464123C>T	ENST00000296564.7	+	13	4898	c.4676C>T	c.(4675-4677)tCa>tTa	p.S1559L		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1559										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TCAAAGATTTCAAACAAAGAT	0.373000													8	55					0	0	0.003080	0	0
CNST	163882	broad.mit.edu	37	1	246811273	246811273	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:246811273G>A	ENST00000366513.4	+	9	2039	c.1770G>A	c.(1768-1770)gaG>gaA	p.E590E	CNST_ENST00000366512.3_Silent_p.E590E|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	590					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						GTCTCCAGGAGAATCTGCCTT	0.403000													31	85					0	0	0.001786	0	0
CACNA1G	8913	broad.mit.edu	37	17	48669297	48669297	+	Splice_Site	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:48669297G>T	ENST00000352832.5	+	13	3126		c.e13-1		CACNA1G_ENST00000514717.1_Splice_Site|CACNA1G_ENST00000510366.1_Splice_Site|CACNA1G_ENST00000354983.4_Splice_Site|CACNA1G_ENST00000502264.1_Splice_Site|CACNA1G_ENST00000513689.2_Splice_Site|CACNA1G_ENST00000507336.1_Splice_Site|CACNA1G_ENST00000514079.1_Splice_Site|CACNA1G_ENST00000358244.5_Splice_Site|CACNA1G_ENST00000515411.1_Splice_Site|CACNA1G_ENST00000514181.1_Splice_Site|CACNA1G_ENST00000510115.1_Splice_Site|CACNA1G_ENST00000507609.1_Splice_Site|CACNA1G_ENST00000515165.1_Splice_Site|CACNA1G_ENST00000513964.1_Splice_Site|CACNA1G_ENST00000442258.2_Splice_Site|CACNA1G_ENST00000359106.5_Splice_Site|CACNA1G_ENST00000507896.1_Splice_Site|CACNA1G_ENST00000507510.2_Splice_Site|CACNA1G_ENST00000503485.1_Splice_Site|CACNA1G_ENST00000512389.1_Splice_Site|CACNA1G_ENST00000360761.4_Splice_Site|CACNA1G_ENST00000505165.1_Splice_Site|CACNA1G_ENST00000429973.2_Splice_Site|CACNA1G_ENST00000515765.1_Splice_Site|CACNA1G_ENST00000416767.4_Splice_Site	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit						axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TCTGCCCGCAGATCCTGACCC	0.582000													15	12					6.31663e-08	8.5485e-08	0.003163	1	0
TYW5	129450	broad.mit.edu	37	2	200803731	200803731	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:200803731G>C	ENST00000354611.4	-	5	676	c.411C>G	c.(409-411)ttC>ttG	p.F137L	C2orf69_ENST00000491721.1_Intron|TYW5_ENST00000452512.2_5'UTR	NM_001039693.2	NP_001034782.1	A2RUC4	TYW5_HUMAN	tRNA-yW synthesizing protein 5	137	JmjC.				wybutosine biosynthetic process		iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(1)	8						CCTCTTTGAAGAATTCTGGAA	0.308000													5	36					0	0	0.000602	0	0
AKAP11	11215	broad.mit.edu	37	13	42874796	42874796	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:42874796A>G	ENST00000025301.2	+	8	2089	c.1914A>G	c.(1912-1914)atA>atG	p.I638M		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	638					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AGAAGCAGATATTCACAAACA	0.398000													8	72					0	0	0.003080	0	0
SERPIND1	3053	broad.mit.edu	37	22	21138315	21138315	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:21138315G>A	ENST00000215727.5	+	3	1228	c.945G>A	c.(943-945)ctG>ctA	p.L315L	PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Silent_p.L315L|PI4KA_ENST00000255882.6_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	315					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	ACTTCCGGCTGAATGAGAGAG	0.493000											OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	86	184					0	0	0.003610	0	0
ERC2	26059	broad.mit.edu	37	3	55733504	55733504	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:55733504C>T	ENST00000288221.6	-	16	3004	c.2749G>A	c.(2749-2751)Gat>Aat	p.D917N		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	917						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		tggtCATCATCATAGTTGTCT	0.498000													121	193					0	0	0.003610	0	0
HELZ2	85441	broad.mit.edu	37	20	62198551	62198551	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:62198551G>C	ENST00000467148.1	-	6	2229	c.2160C>G	c.(2158-2160)ctC>ctG	p.L720L	HELZ2_ENST00000427522.2_Silent_p.L151L	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		AGCACAGGAAGAGGCGGTGCA	0.677000													12	49					0	0	0.001368	0	0
ARFGAP2	84364	broad.mit.edu	37	11	47198344	47198344	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:47198344G>C	ENST00000524782.1	-	1	289	c.61C>G	c.(61-63)Cca>Gca	p.P21A	ARFGAP2_ENST00000319543.6_5'UTR|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.P21A|ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000419701.2_5'UTR	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	21	Arf-GAP.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TTGTTGGTTGGAACTGCGCGA	0.617000													8	44					0	0	0.004482	0	0
SCCPDH	51097	broad.mit.edu	37	1	246923504	246923504	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:246923504C>G	ENST00000366510.3	+	9	1341	c.965C>G	c.(964-966)tCa>tGa	p.S322*		NM_016002.2	NP_057086.2	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	322						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		GGCTATTTTTCAAAACAAGGC	0.299000													23	38					0	0	0.005443	0	0
VCAN	1462	broad.mit.edu	37	5	82850806	82850806	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:82850806C>T	ENST00000265077.3	+	12	10249	c.9684C>T	c.(9682-9684)ctC>ctT	p.L3228L	VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Silent_p.L2241L|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Silent_p.L487L|VCAN_ENST00000512590.2_Silent_p.L1426L|VCAN_ENST00000342785.4_Silent_p.L1474L|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3228	C-type lectin.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GGATAGGCCTCAATGACAAGA	0.403000													23	62					0	0	0.003330	0	0
GPHN	10243	broad.mit.edu	37	14	67291216	67291216	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:67291216G>A	ENST00000478722.1	+	4	1347	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	GPHN_ENST00000459628.1_Intron|GPHN_ENST00000543237.1_Missense_Mutation_p.E76K|GPHN_ENST00000315266.5_Missense_Mutation_p.E76K|GPHN_ENST00000305960.9_Intron|GPHN_ENST00000544752.2_3'UTR	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	76	MPT Mo-transferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TTGGTGTGATGAAAAGGAACT	0.398000			T	MLL	AL								11	35					0	0	0.001368	0	0
MAMDC2	256691	broad.mit.edu	37	9	72840940	72840940	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:72840940G>C	ENST00000377182.4	+	14	2670	c.2053G>C	c.(2053-2055)Gag>Cag	p.E685Q	SMC5-AS1_ENST00000594708.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	685						endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						AAATGAAATTGAGTATTAAGA	0.303000													7	16					0	0	0.004482	0	0
UCP3	7352	broad.mit.edu	37	11	73718076	73718076	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:73718076C>T	ENST00000314032.4	-	2	564	c.12G>A	c.(10-12)ctG>ctA	p.L4L	UCP3_ENST00000348534.4_Silent_p.L4L|UCP3_ENST00000426995.2_Silent_p.L4L	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	4					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					CTGAAGGCTTCAGTCCAACCA	0.602000													9	31					0	0	0.000978	0	0
GCDH	2639	broad.mit.edu	37	19	13007200	13007200	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:13007200G>C	ENST00000222214.5	+	8	1028	c.817G>C	c.(817-819)Gag>Cag	p.E273Q	GCDH_ENST00000591470.1_Missense_Mutation_p.E273Q|GCDH_ENST00000422947.2_Missense_Mutation_p.E229Q|GCDH_ENST00000457854.1_Missense_Mutation_p.E273Q			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	273					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						GGAGGTGCCAGAGGAGAATGT	0.632000													5	35					0	0	0.001984	0	0
MTFP1	51537	broad.mit.edu	37	22	30824562	30824562	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:30824562C>T	ENST00000355143.4	+	3	413	c.309C>T	c.(307-309)ttC>ttT	p.F103F	RP4-539M6.19_ENST00000439838.1_3'UTR|MTFP1_ENST00000407550.3_3'UTR|MTFP1_ENST00000266263.5_3'UTR	NM_001003704.2	NP_001003704.1			mitochondrial fission process 1											endometrium(1)|large_intestine(1)|lung(2)	4						CCTCCTGCTTCATGTCAACCT	0.592000													23	112					0	0	0.002780	0	0
ARHGAP15	55843	broad.mit.edu	37	2	144194515	144194515	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:144194515G>C	ENST00000295095.6	+	8	774	c.607G>C	c.(607-609)Gaa>Caa	p.E203Q	AC096558.1_ENST00000549032.1_RNA|AC096558.1_ENST00000550516.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA|AC096558.1_ENST00000442794.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	203					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		AAGAAACCTGGAATTATTCAA	0.338000													11	38					0	0	0.001368	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138447178	138447178	+	Splice_Site	SNP	G	G	A	rs144802156	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:138447178G>A	ENST00000310018.2	-	7	701	c.419C>T	c.(418-420)aCg>aTg	p.T140M	ATP6V0A4_ENST00000483139.1_5'UTR|ATP6V0A4_ENST00000393054.1_Splice_Site_p.T140M|ATP6V0A4_ENST00000353492.4_Splice_Site_p.T140M	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	140					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ATTGGTTTCCGTCTGAAAGTC	0.393000													15	43					0	0	0.003163	0	0
NRXN2	9379	broad.mit.edu	37	11	64410027	64410027	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:64410027G>A	ENST00000301894.2	-	1	760	c.249C>T	c.(247-249)ctC>ctT	p.L83L	NRXN2_ENST00000265459.6_Intron|NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000377551.1_Intron|NRXN2_ENST00000409571.1_Intron	NM_138734.2	NP_620063.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	0	Laminin G-like 1.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CGCCGCGGGTGAGGAAGGGCA	0.731000													7	18					0	0	0.003080	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160244633	160244633	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:160244633T>G	ENST00000264431.4	+	5	949	c.530T>G	c.(529-531)cTc>cGc	p.L177R		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	177					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TCAGTGATTCTCAATGGATCT	0.398000													22	46					0	0	0.003330	0	0
EPS8L3	79574	broad.mit.edu	37	1	110301959	110301959	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:110301959C>T	ENST00000369805.3	-	5	535	c.306G>A	c.(304-306)gcG>gcA	p.A102A	EPS8L3_ENST00000361965.4_Silent_p.A102A|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Silent_p.A102A|EPS8L3_ENST00000494151.1_5'UTR	NM_139053.2	NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	102						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		ATGTGTTGAGCGCCACATTCA	0.607000													68	144					0	0	0.003610	0	0
SVOP	55530	broad.mit.edu	37	12	109309593	109309593	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:109309593C>G	ENST00000299134.5	-	13	1209	c.1210G>C	c.(1210-1212)Gag>Cag	p.E404Q		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						AGCACCCACTCTTGCCATGCC	0.612000													4	11					0	0	0.001168	0	0
PVRL4	81607	broad.mit.edu	37	1	161046192	161046192	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:161046192G>C	ENST00000368012.3	-	4	1106	c.804C>G	c.(802-804)ctC>ctG	p.L268L	PVRL4_ENST00000453926.2_Silent_p.L2L	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	268	Ig-like C2-type 2.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TCAGGCACTTGAGCATAGCTC	0.562000													9	49					0	0	0.004482	0	0
CTNNBL1	56259	broad.mit.edu	37	20	36431360	36431360	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:36431360G>C	ENST00000405275.2	+	12	1285	c.1042G>C	c.(1042-1044)Gac>Cac	p.D348H	CTNNBL1_ENST00000373473.1_Missense_Mutation_p.D188H|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.D123H|CTNNBL1_ENST00000361383.6_Missense_Mutation_p.D375H|CTNNBL1_ENST00000473857.1_3'UTR	NM_001281495.1	NP_001268424.1	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	375					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TAAGTTTGTTGACATTCTTGG	0.483000													25	81					0	0	0.003954	0	0
SZT2	23334	broad.mit.edu	37	1	43889974	43889974	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:43889974C>G	ENST00000562955.1	+	16	2342	c.2342C>G	c.(2341-2343)tCa>tGa	p.S781*	SZT2_ENST00000372442.1_5'UTR	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	781						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TCAGGCCGCTCAGCCTCTTCT	0.617000													14	69					0	0	0.001855	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58551908	58551908	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:58551908C>T	ENST00000282326.1	+	4	708	c.461C>T	c.(460-462)tCg>tTg	p.S154L		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	154					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AAAGAACCATCGCAGGTGAGC	0.627000													9	172					0	0	0.006214	0	0
LRRFIP2	9209	broad.mit.edu	37	3	37151043	37151043	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:37151043G>A	ENST00000421307.1	-	12	1006	c.584C>T	c.(583-585)tCt>tTt	p.S195F	LRRFIP2_ENST00000396428.2_Intron|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.S195F|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000354379.4_Intron	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	195	DVL3-binding.|Ser-rich.				Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CAGCAGACCAGAATTTGCAGT	0.438000													48	75					0	0	0.003610	0	0
HSPA9	3313	broad.mit.edu	37	5	137902369	137902369	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:137902369C>G	ENST00000297185.3	-	9	1043	c.918G>C	c.(916-918)caG>caC	p.Q306H	HSPA9_ENST00000501917.2_5'UTR	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	306					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCCGTACCCTCTGAAGTGCCA	0.438000													22	185					0	0	0.004656	0	0
COL12A1	1303	broad.mit.edu	37	6	75831126	75831126	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:75831126G>C	ENST00000322507.8	-	44	7287	c.6978C>G	c.(6976-6978)ttC>ttG	p.F2326L	COL12A1_ENST00000483888.2_Missense_Mutation_p.F2326L|COL12A1_ENST00000416123.2_Missense_Mutation_p.F2326L|COL12A1_ENST00000345356.6_Missense_Mutation_p.F1162L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2326	VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CATCAGTCAAGAACACAATAT	0.388000													25	79					0	0	0.006320	0	0
SIX1	6495	broad.mit.edu	37	14	61115580	61115580	+	Missense_Mutation	SNP	G	G	A	rs80356459		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:61115580G>A	ENST00000247182.6	-	1	600	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	110			R -> Q (in BOS3).|R -> W (in BOS3; crucial for EYA1-SIX1 interaction).		branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.R110G(1)|p.R110R(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CGGCGCACCCGATATTTGCCC	0.632000													43	76					0	0	0.007835	0	0
PROCR	10544	broad.mit.edu	37	20	33762609	33762609	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:33762609G>A	ENST00000216968.4	+	2	257	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	59					antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	GCACGTGCTGGAAGGCCCAGA	0.617000													27	75					0	0	0.005443	0	0
MMP9	4318	broad.mit.edu	37	20	44642135	44642135	+	Silent	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:44642135C>A	ENST00000372330.3	+	9	1591	c.1572C>A	c.(1570-1572)atC>atA	p.I524I		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	524	Hemopexin-like 1.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TCGACGCCATCGCGGAGATTG	0.627000											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	19					4.3838e-07	5.89834e-07	0.001855	1	0
HERC2	8924	broad.mit.edu	37	15	28437183	28437183	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:28437183G>A	ENST00000261609.7	-	53	8483	c.8375C>T	c.(8374-8376)tCg>tTg	p.S2792L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2792	DOC.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CACGGAGGACGACACATTCAG	0.587000											OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	166					0	0	0.003610	0	0
SYTL3	94120	broad.mit.edu	37	6	159181754	159181754	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:159181754G>A	ENST00000297239.9	+	14	1585	c.1391G>A	c.(1390-1392)aGa>aAa	p.R464K	SYTL3_ENST00000367081.3_Missense_Mutation_p.R190K|SYTL3_ENST00000360448.3_Missense_Mutation_p.R396K			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	464					intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TCACGGCCCAGAAAACTCCAA	0.567000													17	41					0	0	0.006122	0	0
UBA52	7311	broad.mit.edu	37	19	18684102	18684102	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:18684102G>A	ENST00000442744.2	+	2	50		c.e2-1		UBA52_ENST00000595683.1_Splice_Site|UBA52_ENST00000596304.1_Splice_Site|UBA52_ENST00000595158.1_Splice_Site|UBA52_ENST00000430157.2_Splice_Site|UBA52_ENST00000599595.1_5'UTR|CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000597451.1_5'UTR|UBA52_ENST00000596273.1_Splice_Site|UBA52_ENST00000599551.1_Splice_Site|UBA52_ENST00000598780.1_Splice_Site	NM_001033930.1	NP_001029102.1	P62987	RL40_HUMAN	ubiquitin A-52 residue ribosomal protein fusion product 1						activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome			endometrium(1)|large_intestine(2)	3						TCCTCCTGCAGACGCAAACAT	0.517000													6	28					0	0	0.001984	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182921966	182921966	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:182921966C>G	ENST00000367547.3	-	1	539	c.303G>C	c.(301-303)gaG>gaC	p.E101D	SHCBP1L_ENST00000488956.1_5'UTR	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	173										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						GCTGCGCCTCCTCTTCATCCT	0.701000													9	22					0	0	0.000978	0	0
DAAM1	23002	broad.mit.edu	37	14	59819345	59819345	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:59819345G>A	ENST00000395125.1	+	18	2315	c.2292G>A	c.(2290-2292)atG>atA	p.M764I	DAAM1_ENST00000360909.3_Missense_Mutation_p.M754I|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Missense_Mutation_p.M764I	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	764	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TTTTTGAGATGAGCCGGTGAG	0.398000													4	14					0	0	0.000248	0	0
CLSPN	63967	broad.mit.edu	37	1	36202663	36202663	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:36202663G>C	ENST00000251195.5	-	24	3857	c.3761C>G	c.(3760-3762)tCa>tGa	p.S1254*	CLSPN_ENST00000318121.3_Nonsense_Mutation_p.S1254*|CLSPN_ENST00000373220.3_Nonsense_Mutation_p.S1190*|CLSPN_ENST00000466308.1_5'UTR|CLSPN_ENST00000520551.1_Nonsense_Mutation_p.S1201*			Q9HAW4	CLSPN_HUMAN	claspin	1254					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTTTAGCAGTGAGCCTGTCTT	0.463000													21	107					0	0	0.001523	0	0
METTL2B	55798	broad.mit.edu	37	7	128119545	128119545	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:128119545C>T	ENST00000480046.1	+	2	456	c.341C>T	c.(340-342)tCa>tTa	p.S114L	METTL2B_ENST00000473488.1_3'UTR|RP11-212P7.3_ENST00000462662.1_RNA|METTL2B_ENST00000262432.8_Missense_Mutation_p.S179L			Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	179							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CCTGGATCCTCAGCCACCTAC	0.428000													22	81					0	0	0.002780	0	0
GATA6	2627	broad.mit.edu	37	18	19780746	19780746	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:19780746C>A	ENST00000269216.3	+	7	2025	c.1748C>A	c.(1747-1749)tCc>tAc	p.S583Y	RP11-627G18.1_ENST00000583442.1_RNA|GATA6_ENST00000581694.1_Missense_Mutation_p.S583Y	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	583					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GTCACGTCCTCCGTGCGACCG	0.672000													27	253					2.79863e-10	3.85168e-10	0.004656	1	0
ABCA13	154664	broad.mit.edu	37	7	48319282	48319282	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:48319282C>T	ENST00000435803.1	+	18	8515	c.8491C>T	c.(8491-8493)Ctg>Ttg	p.L2831L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2831				L -> R (in Ref. 1; AAP13576).	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						GAAAGGACTTCTGTTTAACAA	0.348000													48	116					0	0	0.003610	0	0
PTK2	5747	broad.mit.edu	37	8	141754781	141754781	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:141754781G>A	ENST00000522684.1	-	19	1833	c.1604C>T	c.(1603-1605)gCa>gTa	p.A535V	PTK2_ENST00000340930.3_Missense_Mutation_p.A535V|PTK2_ENST00000520151.1_3'UTR|PTK2_ENST00000535192.1_Missense_Mutation_p.A535V|PTK2_ENST00000395218.2_Missense_Mutation_p.A535V|PTK2_ENST00000521059.1_Missense_Mutation_p.A535V|PTK2_ENST00000519465.1_Missense_Mutation_p.A163V|PTK2_ENST00000517887.1_Missense_Mutation_p.A579V|PTK2_ENST00000519419.1_Missense_Mutation_p.A579V|PTK2_ENST00000538769.1_Missense_Mutation_p.A203V	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	535	Protein kinase.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CTCTAGATATGCAAGAGCTGT	0.383000													30	110					0	0	0.003271	0	0
GON4L	54856	broad.mit.edu	37	1	155796774	155796774	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:155796774G>A	ENST00000437809.1	-	3	673	c.551C>T	c.(550-552)tCa>tTa	p.S184L	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.S184L|GON4L_ENST00000271883.5_Missense_Mutation_p.S184L|GON4L_ENST00000368331.1_Missense_Mutation_p.S184L	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	184					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTGGCTGCCTGATGGCAGGGA	0.473000													13	72					0	0	0.001855	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140769071	140769071	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140769071C>G	ENST00000519479.1	+	1	1620	c.1620C>G	c.(1618-1620)ctC>ctG	p.L540L	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCAGCGCTCAGCGCGAACG	0.701000													7	50					0	0	0.001984	0	0
SV2C	22987	broad.mit.edu	37	5	75621207	75621207	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:75621207C>G	ENST00000502798.2	+	13	2461	c.2019C>G	c.(2017-2019)ttC>ttG	p.F673L	SV2C_ENST00000322285.7_Intron	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	673					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GCTTTGGCTTCTTAAATGCGC	0.463000													26	71					0	0	0.006320	0	0
CACNA1C	775	broad.mit.edu	37	12	2690861	2690861	+	Silent	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:2690861C>A	ENST00000399655.1	+	14	2266	c.2001C>A	c.(1999-2001)ctC>ctA	p.L667L	CACNA1C_ENST00000399649.1_Silent_p.L667L|CACNA1C_ENST00000399595.1_Silent_p.L667L|CACNA1C_ENST00000399603.1_Silent_p.L667L|CACNA1C_ENST00000399644.1_Silent_p.L667L|CACNA1C_ENST00000399617.1_Silent_p.L667L|CACNA1C_ENST00000327702.7_Silent_p.L667L|CACNA1C_ENST00000347598.4_Silent_p.L667L|CACNA1C_ENST00000399629.1_Silent_p.L667L|CACNA1C_ENST00000402845.3_Silent_p.L667L|CACNA1C_ENST00000399606.1_Silent_p.L667L|CACNA1C_ENST00000399601.1_Silent_p.L667L|CACNA1C_ENST00000344100.3_Silent_p.L667L|CACNA1C_ENST00000399637.1_Silent_p.L667L|CACNA1C_ENST00000335762.5_Silent_p.L692L|CACNA1C_ENST00000399641.1_Silent_p.L667L|CACNA1C_ENST00000399634.1_Silent_p.L667L|CACNA1C_ENST00000399638.1_Silent_p.L667L|CACNA1C_ENST00000399621.1_Silent_p.L667L|CACNA1C_ENST00000399591.1_Silent_p.L667L|CACNA1C_ENST00000406454.3_Silent_p.L667L|CACNA1C_ENST00000399597.1_Silent_p.L667L|CACNA1C_ENST00000480911.1_Silent_p.L667L	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	667					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	tcttctccctcctGGGGATGC	0.537000													12	86					5.50884e-06	7.38757e-06	0.001368	1	0
DHX29	54505	broad.mit.edu	37	5	54567922	54567922	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:54567922C>G	ENST00000251636.5	-	18	3005	c.2857G>C	c.(2857-2859)Gaa>Caa	p.E953Q	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	953	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TACTTATTTTCTTTTGTTCTT	0.318000													45	31					0	0	0.002522	0	0
MALAT1	378938	broad.mit.edu	37	11	65268496	65268496	+	RNA	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:65268496G>A	ENST00000534336.1	+	0	3264					NR_002819.2																						TTTTTTACACGAATTTGAGGA	0.363000													22	80					0	0	0.003954	0	0
C7orf25	79020	broad.mit.edu	37	7	42949965	42949965	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:42949965C>G	ENST00000350427.4	-	2	810	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000431882.2_Missense_Mutation_p.E237Q|C7orf25_ENST00000438029.1_Missense_Mutation_p.E179Q|C7orf25_ENST00000447342.1_Missense_Mutation_p.E179Q			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	179										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						TTCAGCTTCTCTGCCATGGGG	0.493000													13	88					0	0	0.001368	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1810466	1810466	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:1810466G>C	ENST00000250894.4	+	12	1544	c.1387G>C	c.(1387-1389)Gag>Cag	p.E463Q	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.E457Q	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	463					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GGGCGAGTTGGAGGCTGCTAA	0.537000													37	89					0	0	0.005524	0	0
C3P1	388503	broad.mit.edu	37	19	10163020	10163020	+	RNA	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:10163020G>C	ENST00000495140.1	+	0	1454																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						CATCGTCCTGGAACCCCAAGG	0.517000													14	50					0	0	0.003163	0	0
EEA1	8411	broad.mit.edu	37	12	93172980	93172980	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:93172980C>G	ENST00000322349.8	-	25	3829	c.3565G>C	c.(3565-3567)Gag>Cag	p.E1189Q		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	1189	Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TTTCTCTTCTCCTGTTCAACA	0.388000													34	100					0	0	0.002445	0	0
SCN10A	6336	broad.mit.edu	37	3	38739903	38739903	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:38739903G>T	ENST00000449082.2	-	27	4807	c.4808C>A	c.(4807-4809)tCc>tAc	p.S1603Y		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1603					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGCAGGCAGGGACATCATGAG	0.562000													27	124					5.61819e-17	7.88586e-17	0.005443	1	0
RTN4R	65078	broad.mit.edu	37	22	20229926	20229926	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:20229926C>T	ENST00000043402.7	-	2	1168	c.730G>A	c.(730-732)Gag>Aag	p.E244K		NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	244					axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					GCCAGGGCCTCAGTGGGCAGC	0.642000													19	32					0	0	0.008871	0	0
ASH1L	55870	broad.mit.edu	37	1	155313492	155313492	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:155313492C>T	ENST00000368346.3	-	23	8677	c.8038G>A	c.(8038-8040)Gat>Aat	p.D2680N	ASH1L_ENST00000392403.3_Missense_Mutation_p.D2675N			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2680	BAH.				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)			GGGTGGCCATCAGGGGTGCGC	0.438000													7	64					0	0	0.001984	0	0
PNPO	55163	broad.mit.edu	37	17	46023278	46023278	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:46023278T>C	ENST00000225573.4	+	5	574	c.469T>C	c.(469-471)Tac>Cac	p.Y157H	PNPO_ENST00000544840.1_Missense_Mutation_p.Y139H|PNPO_ENST00000434554.2_Intron|RP11-6N17.9_ENST00000582262.1_RNA|PNPO_ENST00000534893.1_Missense_Mutation_p.Y62H	NM_018129.3	NP_060599.1	Q9NVS9	PNPO_HUMAN	pyridoxamine 5'-phosphate oxidase	157					pyridoxine biosynthetic process	cytosol	FMN binding|pyridoxamine-phosphate oxidase activity			endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5					Pyridoxal Phosphate(DB00114)	GGCTGAGTGCTACTTCCACTC	0.597000													19	42					0	0	0.006122	0	0
STX17	55014	broad.mit.edu	37	9	102722413	102722413	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:102722413C>T	ENST00000259400.6	+	6	694	c.558C>T	c.(556-558)gtC>gtT	p.V186V	STX17_ENST00000525640.1_Silent_p.V186V|STX17_ENST00000534052.1_Silent_p.V186V|STX17_ENST00000525847.1_3'UTR	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	186	t-SNARE coiled-coil homology.				intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GCCAACTGGTCACTGACTTCT	0.333000													29	71					0	0	0.002445	0	0
ALK	238	broad.mit.edu	37	2	29519819	29519819	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:29519819G>A	ENST00000389048.3	-	9	2658	c.1752C>T	c.(1750-1752)gtC>gtT	p.V584V	ALK_ENST00000431873.1_Intron|ALK_ENST00000498037.1_5'UTR	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	584	MAM 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.V584V(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CATAGGCGGCGACATGCCAGA	0.557000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				12	38					0	0	0.001368	0	0
CYP51A1	1595	broad.mit.edu	37	7	91761093	91761093	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:91761093C>T	ENST00000003100.8	-	2	451	c.286G>A	c.(286-288)Gag>Aag	p.E96K	LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_5'UTR	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	90					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	CTTACCTTCTCATATGCATTT	0.318000													10	29					0	0	0.008291	0	0
CCDC144CP	348254	broad.mit.edu	37	17	20224931	20224931	+	RNA	SNP	T	T	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:20224931T>C	ENST00000580225.1	+	0	105				CCDC144CP_ENST00000340196.4_RNA														p.V101A(1)									CACGTCTTGGTTCCTGGAGAC	0.642000													6	355					0	0	0.000978	0	0
CDH10	1008	broad.mit.edu	37	5	24505321	24505321	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:24505321G>C	ENST00000264463.4	-	8	1800	c.1293C>G	c.(1291-1293)atC>atG	p.I431M		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	431	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GAATGTTAAAGATTCTGTCAA	0.363000										HNSCC(23;0.051)			10	34					0	0	0.006214	0	0
FMO1	2326	broad.mit.edu	37	1	171251468	171251468	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:171251468G>C	ENST00000354841.4	+	6	1310	c.1179G>C	c.(1177-1179)ctG>ctC	p.L393L	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Silent_p.L330L|FMO1_ENST00000367750.3_Silent_p.L393L	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	393					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTCGAGTCCTGAAAGGTAAGT	0.448000													7	51					0	0	0.001984	0	0
PROCR	10544	broad.mit.edu	37	20	33762683	33762683	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:33762683G>C	ENST00000216968.4	+	2	331	c.249G>C	c.(247-249)caG>caC	p.Q83H	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	83					antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	CGCGCACGCAGAGTGGCCTGC	0.682000													9	14					0	0	0.004482	0	0
UBR1	197131	broad.mit.edu	37	15	43281096	43281096	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:43281096C>G	ENST00000290650.4	-	35	3996	c.3918G>C	c.(3916-3918)ttG>ttC	p.L1306F	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1306					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GTGGCACTTTCAATCCAATTC	0.373000													38	105					0	0	0.003755	0	0
POU2F3	25833	broad.mit.edu	37	11	120169015	120169015	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:120169015C>T	ENST00000260264.4	+	4	214	c.180C>T	c.(178-180)ctC>ctT	p.L60L	POU2F3_ENST00000543440.2_Silent_p.L58L	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	58					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		AGCAGACCCTCTCCCATCGGC	0.532000													43	227					0	0	0.002522	0	0
COL23A1	91522	broad.mit.edu	37	5	177690292	177690292	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:177690292G>C	ENST00000390654.3	-	9	913	c.556C>G	c.(556-558)Ccg>Gcg	p.P186A	COL23A1_ENST00000407622.1_Missense_Mutation_p.P150A	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	186	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	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)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		GGGGGCCCCGGAGGCCCAGCA	0.672000													11	21					0	0	0.001855	0	0
RYR1	6261	broad.mit.edu	37	19	39017663	39017663	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:39017663C>G	ENST00000355481.4	+	71	10773	c.10642C>G	c.(10642-10644)Ctg>Gtg	p.L3548V	RYR1_ENST00000359596.3_Missense_Mutation_p.L3553V|RYR1_ENST00000360985.3_Missense_Mutation_p.L3553V|AC067969.1_ENST00000597015.1_RNA	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3553					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCGGGAATTTCTGCACAACAA	0.507000													11	88					0	0	0.000978	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058710	152058710	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:152058710C>T	ENST00000368806.1	-	3	1512	c.1448G>A	c.(1447-1449)aGc>aAc	p.S483N		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	483							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGCGTTTTTGCTGTTCACAAA	0.483000													98	225					0	0	0.003610	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94655506	94655506	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:94655506G>A	ENST00000260526.6	-	13	1597	c.1415C>T	c.(1414-1416)tCa>tTa	p.S472L	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	472					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	p.S472L(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTCTTCAGTTGAATTTGTGGC	0.368000													12	60					0	0	0.000978	0	0
ZNF556	80032	broad.mit.edu	37	19	2873567	2873567	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:2873567G>C	ENST00000586426.1	+	2	164	c.77G>C	c.(76-78)aGa>aCa	p.R26T	ZNF556_ENST00000307635.2_Missense_Mutation_p.R26T			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	26	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGCTCAGAGAAAACTCTAC	0.438000													30	93					0	0	0.008361	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45671765	45671765	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:45671765G>T	ENST00000359600.5	-	1	463	c.258C>A	c.(256-258)ttC>ttA	p.F86L	ZSWIM5_ENST00000464588.1_Intron	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	86							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGATCCGCTCGAAGCGCTCCT	0.667000													10	24					5.16669e-11	7.1471e-11	0.000978	1	0
STAM2	10254	broad.mit.edu	37	2	153006744	153006744	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:153006744C>T	ENST00000263904.4	-	2	390		c.e2-1			NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2						cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		GTGGCTTTTTCTATAAAATAT	0.353000													4	29					0	0	0.000602	0	0
UQCC1	55245	broad.mit.edu	37	20	33891806	33891806	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:33891806G>A	ENST00000374385.5	-	10	1009	c.832C>T	c.(832-834)Cta>Tta	p.L278L	UQCC1_ENST00000397556.3_Silent_p.L179L|UQCC1_ENST00000349714.5_Silent_p.L251L|UQCC1_ENST00000407996.2_Silent_p.L141L|UQCC1_ENST00000374377.5_Silent_p.L166L|UQCC1_ENST00000374384.2_Silent_p.L252L|UQCC1_ENST00000359226.2_Silent_p.L198L|UQCC1_ENST00000374380.2_Silent_p.L210L|UQCC1_ENST00000540457.1_Silent_p.L123L	NM_018244.4	NP_060714.3			ubiquinol-cytochrome c reductase complex assembly factor 1	278																	TTCTCCACTAGAGGGCGCCAG	0.607000											OREG0025888	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	96					0	0	0.003610	0	0
QSER1	79832	broad.mit.edu	37	11	32955538	32955538	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:32955538C>T	ENST00000399302.2	+	4	2682	c.2347C>T	c.(2347-2349)Cag>Tag	p.Q783*	QSER1_ENST00000527788.1_Nonsense_Mutation_p.Q544*	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	783	Gln-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TGATCATTCTCAGCAGCAACT	0.403000													16	104					0	0	0.004007	0	0
FANCD2OS	115795	broad.mit.edu	37	3	10146088	10146088	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:10146088G>A	ENST00000450660.2	-	2	587	c.371C>T	c.(370-372)tCa>tTa	p.S124L	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.S124L	NM_001164839.1	NP_001158311.1			FANCD2 opposite strand																		GCAAAAGGCTGACTTGTCTGA	0.522000													23	173					0	0	0.002780	0	0
ZNF812	729648	broad.mit.edu	37	19	9801233	9801233	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:9801233G>A	ENST00000457674.2	-	5	1464	c.946C>T	c.(946-948)Cag>Tag	p.Q316*	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CCCGTGTACTGAGTGAAGGCT	0.443000													26	79					0	0	0.003954	0	0
NOX5	79400	broad.mit.edu	37	15	69325600	69325600	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:69325600G>C	ENST00000260364.5	+	6	1085	c.784G>C	c.(784-786)Gac>Cac	p.D262H	NOX5_ENST00000448182.3_Missense_Mutation_p.D234H|NOX5_ENST00000388866.3_Missense_Mutation_p.D280H|NOX5_ENST00000455873.3_Missense_Mutation_p.D245H|NOX5_ENST00000530406.2_Missense_Mutation_p.D252H			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	280					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CCTCAACTTCGACTGCAGCTT	0.647000													10	40					0	0	0.000978	0	0
OR2T12	127064	broad.mit.edu	37	1	248458107	248458107	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:248458107C>T	ENST00000317996.1	-	1	773	c.774G>A	c.(772-774)atG>atA	p.M258I		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ATTTGGGTCTCATATAGGTAA	0.483000													27	126					0	0	0.003954	0	0
ADCY10	55811	broad.mit.edu	37	1	167871010	167871010	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:167871010C>T	ENST00000367848.1	-	5	547	c.50G>A	c.(49-51)cGa>cAa	p.R17Q	ADCY10_ENST00000367851.4_Missense_Mutation_p.R109Q|ADCY10_ENST00000545172.1_Intron			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	109					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CAGCTGCTTTCGCTCCACCCT	0.493000													26	140					0	0	0.004656	0	0
ZNF687	57592	broad.mit.edu	37	1	151262635	151262635	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:151262635C>T	ENST00000368879.2	+	7	3100	c.3002C>T	c.(3001-3003)tCc>tTc	p.S1001F		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	1001					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGTGAGCGCTCCTTCTGCTCC	0.597000													13	95					0	0	0.003271	0	0
MYCN	4613	broad.mit.edu	37	2	16082244	16082244	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:16082244G>C	ENST00000281043.3	+	2	355	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	MYCNOS_ENST00000448719.1_RNA	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	20					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CCCAGACCTCGAGTTTGACTC	0.642000			A		neuroblastoma								5	41					0	0	0.000602	0	0
FBXO34	55030	broad.mit.edu	37	14	55817474	55817474	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:55817474C>G	ENST00000313833.4	+	2	611	c.366C>G	c.(364-366)ttC>ttG	p.F122L	FBXO34_ENST00000555087.1_3'UTR|FBXO34_ENST00000440021.1_Missense_Mutation_p.F122L	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	122										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						AAATTGCATTCTTTGCATCCC	0.428000													23	34					0	0	0.002299	0	0
SRD5A3	79644	broad.mit.edu	37	4	56236183	56236183	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:56236183C>T	ENST00000264228.4	+	5	1110	c.882C>T	c.(880-882)ctC>ctT	p.L294L	SRD5A3-AS1_ENST00000608086.1_RNA|SRD5A3-AS1_ENST00000609487.1_RNA|SRD5A3-AS1_ENST00000609700.1_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000609500.1_RNA|SRD5A3-AS1_ENST00000609580.1_RNA|SRD5A3-AS1_ENST00000608558.1_RNA|SRD5A3-AS1_ENST00000609051.1_RNA|SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3-AS1_ENST00000608265.1_RNA|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000609573.1_RNA|SRD5A3-AS1_ENST00000595103.1_RNA	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	294					androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			CTGCCTTTCTCAGCCACCAAT	0.423000													26	86					0	0	0.004656	0	0
CARF	79800	broad.mit.edu	37	2	203842024	203842024	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:203842024C>G	ENST00000402905.3	+	13	1848	c.1527C>G	c.(1525-1527)ctC>ctG	p.L509L	CARF_ENST00000320443.8_Silent_p.L509L|CARF_ENST00000414439.1_Silent_p.L407L|CARF_ENST00000545262.1_Silent_p.L433L|WDR12_ENST00000477723.1_Intron|CARF_ENST00000428585.1_Silent_p.L433L|CARF_ENST00000438828.2_Silent_p.L509L|CARF_ENST00000545253.1_Silent_p.L421L	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1			calcium responsive transcription factor																		GGAATATTCTCAAAGAGACCA	0.303000													26	118					0	0	0.005443	0	0
CDHR5	53841	broad.mit.edu	37	11	618014	618014	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:618014G>A	ENST00000358353.3	-	15	2380	c.2058C>T	c.(2056-2058)ctC>ctT	p.L686L	CDHR5_ENST00000397542.2_Silent_p.L686L|CDHR5_ENST00000349570.7_Silent_p.L492L			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	686					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CAAGGACGGCGAGGCCAAGGA	0.682000													7	27					0	0	0.001984	0	0
MUC16	94025	broad.mit.edu	37	19	9090786	9090786	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:9090786G>C	ENST00000397910.4	-	1	1232	c.1029C>G	c.(1027-1029)gtC>gtG	p.V343V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	343	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGTGCTTCTGACCCTTTCGG	0.507000													16	51					0	0	0.003163	0	0
ZNF91	7644	broad.mit.edu	37	19	23578152	23578152	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:23578152G>A	ENST00000300619.7	-	1	210	c.5C>T	c.(4-6)cCa>cTa	p.P2L	ZNF91_ENST00000397082.2_Missense_Mutation_p.P2L|ZNF91_ENST00000599743.1_Missense_Mutation_p.P2L	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	2						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGGGGTTCCTGGCATCTTAGC	0.612000													21	78					0	0	0.004656	0	0
DCTN1	1639	broad.mit.edu	37	2	74598163	74598163	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:74598163C>G	ENST00000361874.3	-	9	1103	c.786G>C	c.(784-786)aaG>aaC	p.K262N	DCTN1_ENST00000407639.2_Missense_Mutation_p.K128N|DCTN1_ENST00000394003.3_Missense_Mutation_p.K255N|DCTN1_ENST00000409438.1_Missense_Mutation_p.K128N|DCTN1_ENST00000409868.1_Missense_Mutation_p.K245N|DCTN1_ENST00000409567.3_Missense_Mutation_p.K242N|DCTN1_ENST00000409240.1_Missense_Mutation_p.K225N	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	262					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						GCATTTTGCTCTTCCATTCCT	0.552000													59	373					0	0	0.003610	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73339600	73339600	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:73339600G>A	ENST00000258098.6	-	1	546	c.306C>T	c.(304-306)tcC>tcT	p.S102S		NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	102	C2.				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						AGGCGGCGGCGGAGCTCGCGG	0.751000													6	14					0	0	0.001984	0	0
PHF1	5252	broad.mit.edu	37	6	33383743	33383743	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:33383743G>A	ENST00000374516.3	+	15	1843	c.1572G>A	c.(1570-1572)ggG>ggA	p.G524G	PHF1_ENST00000374512.3_3'UTR	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	524					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TGTCTCCTGGGACTGGGGGAG	0.612000													36	101					0	0	0.003755	0	0
CNNM2	54805	broad.mit.edu	37	10	104816644	104816644	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:104816644G>A	ENST00000369878.4	+	4	2184	c.1996G>A	c.(1996-1998)Gag>Aag	p.E666K	CNNM2_ENST00000433628.2_Missense_Mutation_p.E666K	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2						ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GAAATATGATGAGAAGAACAA	0.433000													35	98					0	0	0.005524	0	0
ACBD6	84320	broad.mit.edu	37	1	180283851	180283851	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:180283851C>G	ENST00000367595.3	-	7	1357	c.670G>C	c.(670-672)Gaa>Caa	p.E224Q	ACBD6_ENST00000475338.2_5'UTR	NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	224						cytoplasm|nucleus	fatty-acyl-CoA binding		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						GTTTGGCCTTCATTGTCCTAT	0.264000													11	77					0	0	0.000978	0	0
CCDC88C	440193	broad.mit.edu	37	14	91744440	91744440	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:91744440G>A	ENST00000389857.6	-	29	4970	c.4884C>T	c.(4882-4884)ctC>ctT	p.L1628L	CCDC88C_ENST00000331194.7_Silent_p.L152L	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1628					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CGTGGCGGCCGAGGGCGTTGC	0.687000													8	17					0	0	0.006214	0	0
ANO2	57101	broad.mit.edu	37	12	5708682	5708682	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:5708682T>C	ENST00000546188.1	-	21	2275	c.2204A>G	c.(2203-2205)tAc>tGc	p.Y735C	ANO2_ENST00000356134.5_Missense_Mutation_p.Y735C|ANO2_ENST00000327087.8_Missense_Mutation_p.Y734C			Q9NQ90	ANO2_HUMAN	anoctamin 2	739						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CAGTCCTGTGTATGGTTCCAA	0.527000													5	248					0	0	0.001168	0	0
PKD2	5311	broad.mit.edu	37	4	88996667	88996667	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:88996667C>A	ENST00000237596.2	+	15	2794	c.2728C>A	c.(2728-2730)Cgt>Agt	p.R910S	PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000508588.1_Missense_Mutation_p.R328S|PKD2_ENST00000502363.1_Missense_Mutation_p.R328S	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	910	C-terminal coiled coil domain.					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ACGGCTAGTACGTGAAGAGTT	0.507000													33	256					2.61193e-14	3.64101e-14	0.001786	1	0
TTN	7273	broad.mit.edu	37	2	179611886	179611886	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:179611886G>C	ENST00000360870.5	-	46	15463	c.15241C>G	c.(15241-15243)Cta>Gta	p.L5081V	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1188	Ig-like 31.						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)			TATCTCTCTAGAGTCTCTCCT	0.552000													30	69					0	0	0.008361	0	0
SPSB4	92369	broad.mit.edu	37	3	140785627	140785627	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:140785627C>G	ENST00000310546.2	+	2	1425	c.681C>G	c.(679-681)atC>atG	p.I227M		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	227	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						TGCGCTACATCAACGGCCTTG	0.637000													14	37					0	0	0.008871	0	0
SKA1	220134	broad.mit.edu	37	18	47918545	47918545	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:47918545G>A	ENST00000285116.3	+	7	907	c.696G>A	c.(694-696)ctG>ctA	p.L232L	SKA1_ENST00000488454.1_Silent_p.L81L|SKA1_ENST00000398452.2_Silent_p.L232L|SKA1_ENST00000417656.2_Silent_p.L186L	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	232					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						ACGTGTTACTGAATATTTTAC	0.393000													33	82					0	0	0.003271	0	0
PPP1CB	5500	broad.mit.edu	37	2	29016810	29016810	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:29016810G>C	ENST00000395366.2	+	7	1098	c.826G>C	c.(826-828)Gat>Cat	p.D276H	PPP1CB_ENST00000296122.6_Missense_Mutation_p.D276H|PPP1CB_ENST00000358506.2_Missense_Mutation_p.D276H|SPDYA_ENST00000462832.1_3'UTR	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	276					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					TGGCGAGTTTGATAATGCTGG	0.348000													25	53					0	0	0.003330	0	0
APOBEC3G	60489	broad.mit.edu	37	22	39483104	39483104	+	Silent	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:39483104G>T	ENST00000407997.3	+	7	1470	c.1113G>T	c.(1111-1113)ctG>ctT	p.L371L	APOBEC3G_ENST00000452957.2_Silent_p.L371L	NM_021822.3	NP_068594.1			apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G											central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					GCCAAGACCTGAGTGGGAGGC	0.622000													27	70					6.07407e-21	8.57765e-21	0.007291	1	0
ZNF812	729648	broad.mit.edu	37	19	9801284	9801284	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:9801284G>A	ENST00000457674.2	-	5	1413	c.895C>T	c.(895-897)Cac>Tac	p.H299Y	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ATTCCAGTGTGAGTTCTTACA	0.413000													30	85					0	0	0.006320	0	0
CLNK	116449	broad.mit.edu	37	4	10566338	10566338	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:10566338G>A	ENST00000226951.6	-	7	595	c.356C>T	c.(355-357)tCc>tTc	p.S119F	CLNK_ENST00000442825.2_Missense_Mutation_p.S77F|CLNK_ENST00000507719.1_Missense_Mutation_p.S77F	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	119					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity	p.S119C(2)		NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						CTGTCCAATGGAGATAGAGGT	0.453000													37	42					0	0	0.002852	0	0
DMXL2	23312	broad.mit.edu	37	15	51772972	51772972	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:51772972C>G	ENST00000251076.5	-	24	6618	c.6331G>C	c.(6331-6333)Gat>Cat	p.D2111H	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.D1475H|DMXL2_ENST00000543779.2_Missense_Mutation_p.D2111H	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2111						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCTTCCTGATCCAGCAGATCA	0.393000													22	125					0	0	0.003330	0	0
CREBBP	1387	broad.mit.edu	37	16	3823904	3823904	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:3823904G>A	ENST00000262367.5	-	13	3120	c.2311C>T	c.(2311-2313)Cag>Tag	p.Q771*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.Q733*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	771					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTCGGAGGCTGAGGCATTCGG	0.562000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						17	134					0	0	0.001882	0	0
ACACA	31	broad.mit.edu	37	17	35631157	35631157	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:35631157G>C	ENST00000353139.5	-	9	1416	c.935C>G	c.(934-936)tCa>tGa	p.S312*	ACACA_ENST00000360679.3_Nonsense_Mutation_p.S217*|ACACA_ENST00000394406.2_Nonsense_Mutation_p.S275*|ACACA_ENST00000335166.5_Nonsense_Mutation_p.S197*	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	275	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GATACGTTTTGAAAAATCATT	0.413000													17	61					0	0	0.008871	0	0
KIAA1244	57221	broad.mit.edu	37	6	138612877	138612877	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:138612877G>C	ENST00000251691.4	+	19	3221	c.3055G>C	c.(3055-3057)Gaa>Caa	p.E1019Q		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1019					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)		TAGGGTGTGTGAATACGTGGG	0.602000													4	13					0	0	0.000248	0	0
ERP29	10961	broad.mit.edu	37	12	112460294	112460294	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:112460294G>C	ENST00000261735.3	+	3	774	c.624G>C	c.(622-624)aaG>aaC	p.K208N	ERP29_ENST00000455836.1_3'UTR|ERP29_ENST00000546477.1_Missense_Mutation_p.K107N	NM_006817.3	NP_006808.1	P30040	ERP29_HUMAN	endoplasmic reticulum protein 29	208					intracellular protein transport|protein folding|protein secretion	endoplasmic reticulum lumen|melanosome	protein disulfide isomerase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						TCATGGGGAAGATCTTAGACC	0.542000													17	48					0	0	0.004990	0	0
IL17C	27189	broad.mit.edu	37	16	88706361	88706361	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:88706361C>T	ENST00000244241.4	+	3	524	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	159					cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		GCTGGTGCTGCGCCGCCGGCC	0.701000													17	38					0	0	0.004990	0	0
IKBKE	9641	broad.mit.edu	37	1	206652436	206652436	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:206652436C>G	ENST00000367120.3	+	10	1516	c.1143C>G	c.(1141-1143)ctC>ctG	p.L381L	IKBKE_ENST00000537984.1_Silent_p.L296L	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	381					DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CCCTGACCCTCTTCAGCACAG	0.607000													17	43					0	0	0.004007	0	0
ITGBL1	9358	broad.mit.edu	37	13	102235651	102235651	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:102235651T>A	ENST00000376180.3	+	6	1032	c.813T>A	c.(811-813)tgT>tgA	p.C271*	ITGBL1_ENST00000545560.2_Nonsense_Mutation_p.C130*|ITGBL1_ENST00000376162.3_Nonsense_Mutation_p.C178*	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	271	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCTGTGAATGTGATGAGAGGG	0.502000													33	141					0	0	0.002445	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32929006	32929006	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:32929006C>T	ENST00000361627.3	+	12	2754	c.2032C>T	c.(2032-2034)Caa>Taa	p.Q678*	ARHGAP11A_ENST00000565905.1_Nonsense_Mutation_p.Q489*|ARHGAP11A_ENST00000543522.1_Nonsense_Mutation_p.Q489*	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	678					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TTCACCCCTTCAAACTCAAAC	0.308000													7	29					0	0	0.001984	0	0
SNHG14	104472715	broad.mit.edu	37	15	25432710	25432710	+	RNA	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:25432710C>T	ENST00000424208.1	+	0	761				SNORD115-10_ENST00000365073.1_RNA	NR_003305.1																						CTTATATTGTCTGAAGAGAGG	0.512000													112	323					0	0	0.003610	0	0
TTLL13	440307	broad.mit.edu	37	15	90799463	90799463	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:90799463C>T	ENST00000438251.1	+	6	929	c.639C>T	c.(637-639)ttC>ttT	p.F213F	RP11-697E2.6_ENST00000561573.1_Intron|TTLL13_ENST00000339615.5_Silent_p.F213F			A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	213	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			GTGGCATCTTCATTACCCGAA	0.537000													10	126					0	0	0.001855	0	0
DPY19L2P3	442524	broad.mit.edu	37	7	29726900	29726900	+	RNA	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:29726900C>G	ENST00000602980.1	+	0	718					NR_036482.1																						TAAAGGTAATCATAGCCTCCT	0.333000													15	36					0	0	0.002450	0	0
KBTBD3	143879	broad.mit.edu	37	11	105923824	105923824	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:105923824C>G	ENST00000526793.1	-	3	1751	c.1592G>C	c.(1591-1593)tGg>tCg	p.W531S	KBTBD3_ENST00000534815.1_Missense_Mutation_p.W452S|KBTBD3_ENST00000531837.1_Missense_Mutation_p.W531S	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	527										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TTCGCCTTTCCAAACACAAGT	0.358000													5	46					0	0	0.000602	0	0
IGFLR1	79713	broad.mit.edu	37	19	36230880	36230880	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:36230880T>C	ENST00000592537.1	-	4	552	c.452A>G	c.(451-453)gAg>gGg	p.E151G	IGFLR1_ENST00000588992.1_Intron|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000592889.1_Intron|IGFLR1_ENST00000587101.1_5'UTR|IGFLR1_ENST00000344990.3_Intron|IGFLR1_ENST00000246532.1_Missense_Mutation_p.E151G			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	151						integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						AGGGACAGGCTCAGGGGTCCT	0.632000													40	51					0	0	0.006999	0	0
EIF4A1	1973	broad.mit.edu	37	17	7480991	7480991	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:7480991G>T	ENST00000293831.8	+	8	889	c.873G>T	c.(871-873)aaG>aaT	p.K291N	EIF4A1_ENST00000582746.1_Missense_Mutation_p.K291N|EIF4A1_ENST00000577269.1_Missense_Mutation_p.K291N|SENP3-EIF4A1_ENST00000579777.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	291	Helicase C-terminal.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						TCACCGAGAAGATGCATGCTC	0.547000													23	107					2.98393e-07	4.02484e-07	0.002780	1	0
PIK3C2B	5287	broad.mit.edu	37	1	204438482	204438482	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:204438482G>C	ENST00000367187.3	-	3	1005	c.449C>G	c.(448-450)tCt>tGt	p.S150C	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.S150C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	150	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TTTCTTGCAAGAGCCCTCTAT	0.577000													6	68					0	0	0.001168	0	0
TRIM3	10612	broad.mit.edu	37	11	6470362	6470362	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:6470362C>T	ENST00000525074.1	-	12	2525	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K	TRIM3_ENST00000345851.3_Missense_Mutation_p.E711K|TRIM3_ENST00000359518.3_Missense_Mutation_p.E711K|TRIM3_ENST00000536344.1_Missense_Mutation_p.E592K|TRIM3_ENST00000537602.1_Missense_Mutation_p.E633K	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	711					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACAGTGGTTCTGCAGATGTG	0.547000													18	40					0	0	0.008871	0	0
RHPN1	114822	broad.mit.edu	37	8	144463988	144463988	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:144463988G>A	ENST00000289013.6	+	14	1748	c.1647G>A	c.(1645-1647)ctG>ctA	p.L549L		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	574	PDZ.				signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CGGCTGGCCTGAAGGAGGGCG	0.677000													8	15					0	0	0.003080	0	0
STH	246744	broad.mit.edu	37	17	44076776	44076776	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:44076776G>C	ENST00000537309.1	+	1	161	c.131G>C	c.(130-132)aGa>aCa	p.R44T	MAPT_ENST00000571987.1_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000576518.1_Intron	NM_001007532.2	NP_001007533.1	Q8IWL8	STH_HUMAN	saitohin	44						cytoplasm|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CAGGTTGCCAGAGACAGAACC	0.527000													12	48					0	0	0.001368	0	0
ATP1A1	476	broad.mit.edu	37	1	116935566	116935566	+	Missense_Mutation	SNP	G	G	A	rs148719009		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:116935566G>A	ENST00000537345.1	+	11	1786	c.1423G>A	c.(1423-1425)Gcc>Acc	p.A475T	ATP1A1_ENST00000295598.5_Missense_Mutation_p.A475T|ATP1A1_ENST00000369496.4_Missense_Mutation_p.A444T	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	475				A -> T (in Ref. 12; CAA27390).	ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	AGAAAGATACGCCAAAATCGT	0.537000													14	109					0	0	0.003163	0	0
SLC38A9	153129	broad.mit.edu	37	5	54922343	54922343	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:54922343C>G	ENST00000396865.2	-	16	2256	c.1665G>C	c.(1663-1665)ctG>ctC	p.L555L	SLC38A9_ENST00000512595.1_Silent_p.L492L|SLC38A9_ENST00000318672.3_Silent_p.L555L|SLC38A9_ENST00000416547.2_Silent_p.L431L|SLC38A9_ENST00000515629.1_Silent_p.L492L|SLC38A9_ENST00000539768.1_3'UTR	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	555					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				ACTGAACAATCAGGTTAGCCA	0.358000													85	90					0	0	0.003610	0	0
FOSB	2354	broad.mit.edu	37	19	45976195	45976195	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:45976195C>T	ENST00000353609.3	+	4	1534	c.942C>T	c.(940-942)ttC>ttT	p.F314F	FOSB_ENST00000586615.1_Silent_p.F265F|FOSB_ENST00000443841.2_Silent_p.F171F|FOSB_ENST00000592436.1_3'UTR|FOSB_ENST00000585836.1_Silent_p.F239F|FOSB_ENST00000417353.2_Silent_p.F278F|FOSB_ENST00000591858.1_Silent_p.F275F|FOSB_ENST00000592811.1_3'UTR|ERCC1_ENST00000423698.2_Intron	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	314					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		TCTCCGCGTTCGCCGGCGCCC	0.577000													25	169					0	0	0.003330	0	0
MCF2L2	23101	broad.mit.edu	37	3	182923668	182923668	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:182923668G>C	ENST00000328913.3	-	25	3177	c.2880C>G	c.(2878-2880)atC>atG	p.I960M	MCF2L2_ENST00000473233.1_Missense_Mutation_p.I960M|MCF2L2_ENST00000468976.1_5'UTR	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	960					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ACCTACCTTTGATATTATTTT	0.368000													10	21					0	0	0.001368	0	0
GREB1	9687	broad.mit.edu	37	2	11756766	11756766	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:11756766C>G	ENST00000381486.2	+	21	3632	c.3332C>G	c.(3331-3333)tCg>tGg	p.S1111W	GREB1_ENST00000396123.1_Missense_Mutation_p.S109W|GREB1_ENST00000234142.5_Missense_Mutation_p.S1111W	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1111	Ser-rich.					integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGCTCTACCTCGGAGAAGAGA	0.542000													27	168					0	0	0.006320	0	0
CDK14	5218	broad.mit.edu	37	7	90356077	90356077	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:90356077C>G	ENST00000406263.1	+	2	624	c.182C>G	c.(181-183)tCc>tGc	p.S61C	CDK14_ENST00000265741.3_Missense_Mutation_p.S89C|CDK14_ENST00000380050.3_Missense_Mutation_p.S107C|CDK14_ENST00000436577.2_Missense_Mutation_p.P10A			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	107					cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						AAGACCTCCTCCACTGGCAAA	0.458000													8	83					0	0	0.003080	0	0
MME	4311	broad.mit.edu	37	3	154834674	154834674	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:154834674G>A	ENST00000460393.1	+	7	673	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	MME_ENST00000360490.2_Missense_Mutation_p.E185K|MME_ENST00000462745.1_Missense_Mutation_p.E185K|MME_ENST00000492661.1_Missense_Mutation_p.E185K|MME_ENST00000493237.1_Missense_Mutation_p.E185K	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	185					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TTGGACAGCTGAAAAAGCTAT	0.284000													12	35					0	0	0.001368	0	0
ABCA9	10350	broad.mit.edu	37	17	66980209	66980209	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:66980209G>A	ENST00000340001.4	-	35	4698	c.4487C>T	c.(4486-4488)tCa>tTa	p.S1496L	ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Missense_Mutation_p.S1458L	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1496	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CAGCCTTCCTGACACCATGAT	0.597000													24	110					0	0	0.004656	0	0
ZNF812	729648	broad.mit.edu	37	19	9801374	9801374	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:9801374G>C	ENST00000457674.2	-	5	1323	c.805C>G	c.(805-807)Caa>Gaa	p.Q269E	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GTGTGAATTTGAATGTGAACA	0.363000													17	49					0	0	0.004007	0	0
HOXC11	3227	broad.mit.edu	37	12	54367605	54367605	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:54367605G>A	ENST00000546378.1	+	1	696	c.580G>A	c.(580-582)Gag>Aag	p.E194K	HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.E194K			O43248	HXC11_HUMAN	homeobox C11	194					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						GTCCCGGGCTGAGGCGGGTGC	0.756000			T	NUP98	AML								7	13					0	0	0.001984	0	0
PARD6G	84552	broad.mit.edu	37	18	77917935	77917935	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:77917935C>T	ENST00000353265.3	-	3	1047	c.850G>A	c.(850-852)Gtc>Atc	p.V284I	AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000585422.1_Intron|AC139100.2_ENST00000586421.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	284					cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		TTCTGCAGGACGCGCGGGGCG	0.731000													5	18					0	0	0.000602	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202747	140202747	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140202747G>A	ENST00000529859.1	+	1	1387	c.1387G>A	c.(1387-1389)Gtg>Atg	p.V463M	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.V463M|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.V463M	NM_018908.2	NP_061731.1												p.V463M(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACCGTGTTCGTGAAGGAGAA	0.662000													28	94					0	0	0.006320	0	0
NCK2	8440	broad.mit.edu	37	2	106498397	106498397	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:106498397C>T	ENST00000233154.4	+	4	1282	c.840C>T	c.(838-840)ttC>ttT	p.F280F	NCK2_ENST00000393349.2_Silent_p.F280F|NCK2_ENST00000522586.1_Intron|NCK2_ENST00000451463.2_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	280					axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						GCGGGCGCTTCGCGGGCAGAG	0.672000													6	33					0	0	0.001984	0	0
LRRK1	79705	broad.mit.edu	37	15	101588736	101588736	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:101588736G>A	ENST00000284395.5	+	23	3564	c.3164G>A	c.(3163-3165)aGg>aAg	p.R1055K	RP11-505E24.3_ENST00000558979.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.R1058K			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1058					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGCAGGAACAGGAAAGTCACC	0.448000													26	108					0	0	0.004656	0	0
KBTBD2	25948	broad.mit.edu	37	7	32909880	32909880	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:32909880C>G	ENST00000304056.4	-	4	1648	c.949G>C	c.(949-951)Gat>Cat	p.D317H	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	317										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			ATGTAGATATCATTATCAGGA	0.413000													28	83					0	0	0.006320	0	0
RALGDS	5900	broad.mit.edu	37	9	135979668	135979668	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:135979668C>G	ENST00000393160.3	-	10	1841	c.1488G>C	c.(1486-1488)caG>caC	p.Q496H	RALGDS_ENST00000372047.3_Missense_Mutation_p.Q539H|RALGDS_ENST00000542690.1_Missense_Mutation_p.Q622H|RALGDS_ENST00000393157.3_Missense_Mutation_p.Q550H|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372050.3_Missense_Mutation_p.Q551H|RALGDS_ENST00000372062.3_Missense_Mutation_p.Q522H	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	551	Ras-GEF.		R -> L (in a colorectal cancer sample; somatic mutation).		nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TCGGCCGTTTCTGGGCTCTCT	0.662000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								16	34					0	0	0.004007	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105456731	105456731	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:105456731C>G	ENST00000258494.9	-	7	996	c.856G>C	c.(856-858)Ggt>Cgt	p.G286R	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.G286R	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	286					10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TTCTTGGCACCTTTAATTTCC	0.403000													19	55					0	0	0.008871	0	0
GBP3	2635	broad.mit.edu	37	1	89486323	89486323	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:89486323G>T	ENST00000370481.4	-	2	302	c.82C>A	c.(82-84)Ctg>Atg	p.L28M	GBP3_ENST00000475853.2_5'UTR	NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	28						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		AGGATTTTCAGAGCTTCTGGA	0.517000													37	106					6.05902e-23	8.59375e-23	0.003755	1	0
SZT2	23334	broad.mit.edu	37	1	43896036	43896036	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:43896036G>C	ENST00000562955.1	+	30	4285	c.4285G>C	c.(4285-4287)Gag>Cag	p.E1429Q	SZT2_ENST00000372442.1_Missense_Mutation_p.E587Q	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1486						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGAGTTTTCAGAGGCTGAGCT	0.522000													27	59					0	0	0.008361	0	0
DDX59	83479	broad.mit.edu	37	1	200617569	200617569	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:200617569G>C	ENST00000447706.2	-	7	1745	c.1594C>G	c.(1594-1596)Cag>Gag	p.Q532E	DDX59_ENST00000331314.6_Missense_Mutation_p.Q532E|DDX59_ENST00000367348.3_Missense_Mutation_p.Q532E			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	532	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						CTCCTTACCTGATGGACATAC	0.418000													26	54					0	0	0.006320	0	0
SRM	6723	broad.mit.edu	37	1	11116794	11116794	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:11116794C>A	ENST00000376957.2	-	4	482	c.402G>T	c.(400-402)aaG>aaT	p.K134N		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	134					spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)|Spermine(DB00127)	GCAGGAACTTCTTGGAGACTT	0.577000													11	48					6.40141e-05	8.50728e-05	0.000978	1	0
HIST1H2BE	8344	broad.mit.edu	37	6	26184038	26184038	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:26184038G>A	ENST00000356530.3	+	1	81	c.15G>A	c.(13-15)gcG>gcA	p.A5A		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	5				A -> S (in Ref. 2; CAB02545).	defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(1)	4						CTGAGCCAGCGAAATCCGCTC	0.512000													29	73					0	0	0.007291	0	0
ZNF311	282890	broad.mit.edu	37	6	28966565	28966565	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:28966565C>G	ENST00000377179.3	-	6	873	c.361G>C	c.(361-363)Gac>Cac	p.D121H	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						ACACAGGGGTCTACTTCTCGC	0.448000													10	68					0	0	0.000978	0	0
TDRD6	221400	broad.mit.edu	37	6	46661399	46661399	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:46661399C>G	ENST00000544460.1	+	1	5788	c.5534C>G	c.(5533-5535)tCa>tGa	p.S1845*	TDRD6_ENST00000316081.6_Nonsense_Mutation_p.S1845*	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1845					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GATGATGAATCAAAAGAATTC	0.418000													11	71					0	0	0.000978	0	0
ATP1A4	480	broad.mit.edu	37	1	160136489	160136489	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:160136489G>T	ENST00000368081.4	+	8	1690	c.1219G>T	c.(1219-1221)Gag>Tag	p.E407*		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	407					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GACCGTGTATGAGGCCGACAC	0.552000													10	71					1.76689e-08	2.39719e-08	0.006214	1	0
MGA	23269	broad.mit.edu	37	15	42042799	42042799	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:42042799G>C	ENST00000219905.7	+	17	7175	c.6994G>C	c.(6994-6996)Gat>Cat	p.D2332H	MGA_ENST00000570161.1_Missense_Mutation_p.D2332H|MGA_ENST00000389936.4_Missense_Mutation_p.D2293H|MGA_ENST00000545763.1_Missense_Mutation_p.D2123H|MGA_ENST00000566586.1_Missense_Mutation_p.D2123H	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2293						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TGAGGAGGTTGATGATGTAGA	0.348000													5	19					0	0	0.001168	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124212437	124212437	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:124212437C>T	ENST00000330342.3	+	6	877	c.629C>T	c.(628-630)tCc>tTc	p.S210F		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	210					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		CTGGATGAATCCCTTGAAGAC	0.418000													6	64					0	0	0.001168	0	0
KLKB1	3818	broad.mit.edu	37	4	187173013	187173013	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:187173013C>G	ENST00000264690.6	+	10	1329	c.1142C>G	c.(1141-1143)tCt>tGt	p.S381C	KLKB1_ENST00000513864.1_Missense_Mutation_p.S381C	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	381			S -> A (in dbSNP:rs4253301).		blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GGGGACAACTCTGGTGAGTAA	0.423000													20	109					0	0	0.001523	0	0
LRBA	987	broad.mit.edu	37	4	151511949	151511949	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:151511949G>C	ENST00000535741.1	-	39	6582	c.6109C>G	c.(6109-6111)Cag>Gag	p.Q2037E	LRBA_ENST00000507224.1_Missense_Mutation_p.Q2037E|LRBA_ENST00000357115.3_Missense_Mutation_p.Q2048E|LRBA_ENST00000510413.1_Missense_Mutation_p.Q2037E			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2048						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TCTGAGTTCTGATTTCCTAAA	0.428000													40	45					0	0	0.008740	0	0
DDX24	57062	broad.mit.edu	37	14	94528596	94528596	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:94528596C>G	ENST00000330836.5	-	3	1221	c.1090G>C	c.(1090-1092)Gag>Cag	p.E364Q	DDX24_ENST00000555054.1_Missense_Mutation_p.E321Q|DDX24_ENST00000544005.1_Missense_Mutation_p.E114Q	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	364	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CCAGTCTGCTCTTTATCAAGA	0.483000													41	110					0	0	0.002852	0	0
PPFIA1	8500	broad.mit.edu	37	11	70189871	70189871	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:70189871G>C	ENST00000253925.7	+	15	2019	c.1804G>C	c.(1804-1806)Gat>Cat	p.D602H	PPFIA1_ENST00000389547.3_Missense_Mutation_p.D602H|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	602					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGACGTGTCTGATGGTGAAGA	0.532000													7	58					0	0	0.001984	0	0
HNRNPA1	3178	broad.mit.edu	37	12	54675946	54675946	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:54675946G>C	ENST00000546500.1	+	4	967	c.352G>C	c.(352-354)Gaa>Caa	p.E118Q	HNRNPA1_ENST00000330752.8_Missense_Mutation_p.E118Q|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000340913.6_Missense_Mutation_p.E118Q|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.E118Q			P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	118	Globular B domain.|RRM 2.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						AGACACTGAAGAACATCACCT	0.383000													14	35					0	0	0.002450	0	0
RET	5979	broad.mit.edu	37	10	43601965	43601965	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:43601965G>A	ENST00000355710.3	+	5	1241	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	RET_ENST00000340058.5_Missense_Mutation_p.E337K	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	337					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CTGGCCCAACGAGACCTCGGT	0.652000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				11	20					0	0	0.008291	0	0
CHIA	27159	broad.mit.edu	37	1	111854934	111854934	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:111854934G>A	ENST00000369740.1	+	4	281	c.178G>A	c.(178-180)Ggg>Agg	p.G60R	CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_Intron|CHIA_ENST00000343320.6_Missense_Mutation_p.G60R|CHIA_ENST00000451398.2_Intron|CHIA_ENST00000353665.6_Intron	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	60					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CGCCTTTGCTGGGAGGCAGAA	0.522000													14	119					0	0	0.002450	0	0
LAMA3	3909	broad.mit.edu	37	18	21494446	21494446	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:21494446G>C	ENST00000313654.9	+	57	7643	c.7402G>C	c.(7402-7404)Gag>Cag	p.E2468Q	LAMA3_ENST00000269217.6_Missense_Mutation_p.E859Q|LAMA3_ENST00000587184.1_Missense_Mutation_p.E803Q|LAMA3_ENST00000399516.3_Missense_Mutation_p.E2412Q|LAMA3_ENST00000588770.1_3'UTR	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2468	Laminin G-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGGGACCGTGAGGCTGAACT	0.537000													5	72					0	0	0.001168	0	0
NFE2	4778	broad.mit.edu	37	12	54686810	54686810	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:54686810G>A	ENST00000540264.2	-	2	979	c.470C>T	c.(469-471)tCt>tTt	p.S157F	RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000312156.4_Missense_Mutation_p.S157F|NFE2_ENST00000553070.1_Missense_Mutation_p.S157F|NFE2_ENST00000435572.2_Missense_Mutation_p.S157F			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	157	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						CAGCTCAAGAGATTCAGCATC	0.567000													50	133					0	0	0.003610	0	0
ZSCAN22	342945	broad.mit.edu	37	19	58850597	58850597	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:58850597G>C	ENST00000329665.4	+	3	1528	c.1381G>C	c.(1381-1383)Gag>Cag	p.E461Q		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	461					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		CCACACGGGAGAGAAGCCTTA	0.542000													8	110					0	0	0.004482	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209836	140209836	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140209836G>A	ENST00000529310.1	+	1	2274	c.2160G>A	c.(2158-2160)gcG>gcA	p.A720A	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTACACAGCGCTGCGGTGCT	0.677000													12	79					0	0	0.000978	0	0
KANK2	25959	broad.mit.edu	37	19	11277264	11277264	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:11277264C>G	ENST00000432929.2	-	13	2910	c.2550G>C	c.(2548-2550)gaG>gaC	p.E850D	KANK2_ENST00000587317.1_5'UTR|KANK2_ENST00000586659.1_Missense_Mutation_p.E842D|KANK2_ENST00000355150.5_Missense_Mutation_p.E842D|KANK2_ENST00000589359.1_Missense_Mutation_p.E850D	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	842										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATGTAGGGCTCTCGTCATCTG	0.587000													11	71					0	0	0.001368	0	0
ONECUT1	3175	broad.mit.edu	37	15	53081206	53081206	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:53081206G>C	ENST00000305901.5	-	1	1003	c.876C>G	c.(874-876)atC>atG	p.I292M	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	292					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		CTTTGGTATTGATCTCTTCCA	0.627000													36	101					0	0	0.003755	0	0
DFFB	1677	broad.mit.edu	37	1	3782299	3782299	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:3782299C>T	ENST00000378212.2	+	3	657	c.334C>T	c.(334-336)Cag>Tag	p.Q112*	DFFB_ENST00000338895.3_Intron|DFFB_ENST00000378209.3_Intron			O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	0					apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		AAGATGTGGTCAGAGGCTCTT	0.587000													6	27					0	0	0.001984	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675092	40675092	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:40675092C>T	ENST00000416151.2	+	1	171	c.56C>T	c.(55-57)tCt>tTt	p.S19F	KNSTRN_ENST00000249776.8_Missense_Mutation_p.S19F|KNSTRN_ENST00000448395.2_Missense_Mutation_p.S19F	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein																		ACATGGCTGTCTACAGAGTGC	0.592000													6	44					0	0	0.001168	0	0
VPS13D	55187	broad.mit.edu	37	1	12326961	12326961	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:12326961C>G	ENST00000358136.3	+	14	1748	c.1618C>G	c.(1618-1620)Ctt>Gtt	p.L540V	VPS13D_ENST00000356315.4_Missense_Mutation_p.L540V	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	540					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGCAGAGTCTCTTCCTCGAAG	0.368000													22	42					0	0	0.001882	0	0
ZMYND8	23613	broad.mit.edu	37	20	45850058	45850058	+	Silent	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:45850058C>A	ENST00000311275.7	-	20	3517	c.3264G>T	c.(3262-3264)ggG>ggT	p.G1088G	ZMYND8_ENST00000360911.3_Silent_p.G1037G|ZMYND8_ENST00000352431.2_Silent_p.G1062G|ZMYND8_ENST00000262975.4_Silent_p.G1042G|ZMYND8_ENST00000540497.1_Silent_p.G1036G|ZMYND8_ENST00000536340.1_Silent_p.G1115G|ZMYND8_ENST00000446994.2_Silent_p.G979G|ZMYND8_ENST00000355972.4_Silent_p.G1088G|ZMYND8_ENST00000461685.1_Silent_p.G1062G|ZMYND8_ENST00000372023.3_Silent_p.G1010G|ZMYND8_ENST00000396281.4_Silent_p.G1088G|ZMYND8_ENST00000471951.2_Silent_p.G1108G|ZMYND8_ENST00000458360.2_Silent_p.G956G	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1088							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCGAGGAGCTCCCCTGGGAGG	0.547000													27	43					3.6726e-16	5.14164e-16	0.003954	1	0
PCNXL2	80003	broad.mit.edu	37	1	233314877	233314877	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:233314877G>A	ENST00000258229.9	-	16	3345	c.3111C>T	c.(3109-3111)ttC>ttT	p.F1037F	PCNXL2_ENST00000488780.2_Silent_p.F170F	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGAGGCCACAGAAGGCCGAAA	0.512000													10	57					0	0	0.001368	0	0
ALDH3A1	218	broad.mit.edu	37	17	19642974	19642974	+	Silent	SNP	G	G	A	rs151020632		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:19642974G>A	ENST00000457500.2	-	7	1292	c.963C>T	c.(961-963)ctC>ctT	p.L321L	ALDH3A1_ENST00000225740.6_Silent_p.L321L|ALDH3A1_ENST00000444455.1_Silent_p.L321L|ALDH3A1_ENST00000494157.2_Silent_p.L248L|ALDH3A1_ENST00000395555.3_Intron	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	321					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CCACGTCCGTGAGGATGGTGG	0.642000													14	47					0	0	0.004007	0	0
CELF4	56853	broad.mit.edu	37	18	34839145	34839145	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:34839145G>A	ENST00000420428.2	-	11	1727	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F	CELF4_ENST00000601019.1_Splice_Site_p.F442F|CELF4_ENST00000603232.1_Splice_Site_p.F443F|CELF4_ENST00000591282.1_Splice_Site_p.F444F|CELF4_ENST00000591287.1_Splice_Site_p.F442F|CELF4_ENST00000361795.5_Splice_Site_p.F442F|CELF4_ENST00000412753.1_Splice_Site_p.F443F|CELF4_ENST00000588597.1_Silent_p.F432F|CELF4_ENST00000334919.5_Intron	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	444	RRM 3.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						TGACATTACCGAAAGGGAGGA	0.522000													24	61					0	0	0.005443	0	0
SPTAN1	6709	broad.mit.edu	37	9	131369932	131369932	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:131369932G>T	ENST00000372739.3	+	32	4206	c.4096G>T	c.(4096-4098)Gag>Tag	p.E1366*	SPTAN1_ENST00000372731.4_Nonsense_Mutation_p.E1366*|SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.E1366*	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1366					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GTCCTCAGATGAGCTAGCCAA	0.542000													73	94					1.78839e-46	2.55215e-46	0.003610	1	0
SLC26A3	1811	broad.mit.edu	37	7	107430026	107430026	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:107430026G>C	ENST00000340010.5	-	6	862	c.678C>G	c.(676-678)ctC>ctG	p.L226L	SLC26A3_ENST00000422236.2_Silent_p.L191L	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	226					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						AAATGAATTTGAGTTGGGAAA	0.388000													3	34					0	0	0.000248	0	0
TSIX	9383	broad.mit.edu	37	X	73042995	73042995	+	RNA	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:73042995G>C	ENST00000604411.1	+	0	30956				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						AATAAAAGCAGAATGTTTAGT	0.358000													7	13					0	0	0.001984	0	0
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	G	rs121912660		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:7577099C>G	ENST00000420246.2	-	8	971	c.839G>C	c.(838-840)aGa>aCa	p.R280T	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R280T|TP53_ENST00000445888.2_Missense_Mutation_p.R280T|TP53_ENST00000359597.4_Missense_Mutation_p.R280T|TP53_ENST00000455263.2_Missense_Mutation_p.R280T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		GCGCCGGTCTCTCCCAGGACA	0.542000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			12	20					0	0	0.000978	0	0
UHMK1	127933	broad.mit.edu	37	1	162468057	162468057	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:162468057C>T	ENST00000489294.1	+	1	425	c.267C>T	c.(265-267)atC>atT	p.I89I	UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_Splice_Site_p.I89I|UHMK1_ENST00000545294.1_Intron	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	89	Protein kinase.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			ACAGAAACATCGGTAATTGCC	0.607000													4	22					0	0	0.001168	0	0
NIPBL	25836	broad.mit.edu	37	5	37064931	37064931	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:37064931G>A	ENST00000282516.8	+	47	8851	c.8352G>A	c.(8350-8352)ctG>ctA	p.L2784L		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2784					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTAATAAGCTGACTAATAAAG	0.408000													23	61					0	0	0.002299	0	0
LOXL3	84695	broad.mit.edu	37	2	74762786	74762786	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:74762786C>T	ENST00000264094.3	-	8	1416	c.1345G>A	c.(1345-1347)Gac>Aac	p.D449N	LOXL3_ENST00000409986.1_Missense_Mutation_p.D304N|LOXL3_ENST00000393937.2_Missense_Mutation_p.D304N|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	449	SRCR 4.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						GTCCCCCAGTCATCCCCACAG	0.662000													23	114					0	0	0.003330	0	0
MALAT1	378938	broad.mit.edu	37	11	65272099	65272099	+	RNA	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:65272099G>C	ENST00000534336.1	+	0	6867					NR_002819.2																						CTGGTGGTGGGAGGGGACTGA	0.373000													10	34					0	0	0.006214	0	0
MDN1	23195	broad.mit.edu	37	6	90442463	90442463	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:90442463G>A	ENST00000369393.3	-	34	4870	c.4755C>T	c.(4753-4755)ttC>ttT	p.F1585F	MDN1_ENST00000428876.1_Silent_p.F1585F			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1585					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCCAGTCAATGAAATCCAGCA	0.438000													14	88					0	0	0.003163	0	0
MIA3	375056	broad.mit.edu	37	1	222826446	222826446	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:222826446C>T	ENST00000344922.5	+	14	4208	c.4183C>T	c.(4183-4185)Ctt>Ttt	p.L1395F	MIA3_ENST00000344441.6_Missense_Mutation_p.L1395F|MIA3_ENST00000340535.7_Missense_Mutation_p.L273F|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1395					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GGAAGTAGCTCTTACTCACAA	0.348000													4	48					0	0	0.000248	0	0
ECE2	9718	broad.mit.edu	37	3	183967544	183967544	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:183967544G>T	ENST00000402825.3	+	1	62	c.62G>T	c.(61-63)cGc>cTc	p.R21L	ECE2_ENST00000324557.4_Missense_Mutation_p.R21L|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	21	Methyltransferase-like region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCGGGTACCGCGAAGTCGAG	0.667000											OREG0015944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	56					0.00307968	0.00404644	0.003080	1	0
GPR55	9290	broad.mit.edu	37	2	231775629	231775629	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:231775629C>T	ENST00000392040.1	-	2	241	c.49G>A	c.(49-51)Gag>Aag	p.E17K	GPR55_ENST00000392039.2_Missense_Mutation_p.E17K	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	17					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		TTCATCAGCTCGTTGACACCG	0.527000													17	75					0	0	0.004007	0	0
SZT2	23334	broad.mit.edu	37	1	43905590	43905590	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:43905590G>C	ENST00000562955.1	+	50	6910	c.6910G>C	c.(6910-6912)Gaa>Caa	p.E2304Q	SZT2_ENST00000372442.1_Missense_Mutation_p.E1462Q	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2361						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGATGTGTGGGAAAAGGGGAA	0.577000													27	45					0	0	0.007291	0	0
MTDH	92140	broad.mit.edu	37	8	98712020	98712020	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:98712020G>C	ENST00000336273.3	+	7	1415	c.1087G>C	c.(1087-1089)Gat>Cat	p.D363H	MTDH_ENST00000519934.1_Intron	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	363					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			TACCACTTCTGATTATCAGTG	0.333000													27	183					0	0	0.008361	0	0
HADHA	3030	broad.mit.edu	37	2	26414459	26414459	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:26414459C>G	ENST00000380649.3	-	19	2168	c.2039G>C	c.(2038-2040)aGa>aCa	p.R680T		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	680					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	ATTCACAAATCTTGTCACCAG	0.542000													38	61					0	0	0.007835	0	0
KMT2B	9757	broad.mit.edu	37	19	36211234	36211234	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:36211234C>T	ENST00000222270.7	+	3	985	c.985C>T	c.(985-987)Caa>Taa	p.Q329*	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000341701.1_Nonsense_Mutation_p.Q329*|KMT2B_ENST00000420124.1_Nonsense_Mutation_p.Q329*	NM_014727.1	NP_055542.1			lysine (K)-specific methyltransferase 2B																		AGGTCAAGGTCAAGGTCAACA	0.512000													5	26					0	0	0.000602	0	0
GCSAM	257144	broad.mit.edu	37	3	111851948	111851948	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:111851948C>G	ENST00000308910.4	-	1	204	c.20G>C	c.(19-21)aGa>aCa	p.R7T	GCSAM_ENST00000484193.1_Missense_Mutation_p.R7T	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1			germinal center-associated, signaling and motility																		CCTGTTTTCTCTCAGCAGAGA	0.502000													30	169					0	0	0.002836	0	0
LRIG1	26018	broad.mit.edu	37	3	66502041	66502041	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:66502041C>T	ENST00000383703.3	-	3	910	c.307G>A	c.(307-309)Gag>Aag	p.E103K	LRIG1_ENST00000273261.3_Missense_Mutation_p.E103K			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	103						integral to membrane		p.E103*(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GCTGTCAACTCATTATTATTG	0.438000													51	68					0	0	0.003610	0	0
ABCC11	85320	broad.mit.edu	37	16	48237196	48237196	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:48237196G>C	ENST00000394747.1	-	13	2170	c.1821C>G	c.(1819-1821)ctC>ctG	p.L607L	ABCC11_ENST00000394748.1_Silent_p.L607L|ABCC11_ENST00000356608.2_Silent_p.L607L|ABCC11_ENST00000537808.1_Silent_p.L607L|ABCC11_ENST00000353782.5_Silent_p.L607L	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	607	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AGCAGCAGTGGAGCACCTGGA	0.582000													8	10					0	0	0.006214	0	0
ZXDC	79364	broad.mit.edu	37	3	126193905	126193905	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:126193905G>C	ENST00000389709.3	-	1	857	c.804C>G	c.(802-804)ttC>ttG	p.F268L	ZXDC_ENST00000336332.5_Missense_Mutation_p.F268L	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	268					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CCTCGCACTTGAACAGGCTCT	0.627000													3	13					0	0	0.000248	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58285149	58285149	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:58285149G>A	ENST00000249750.4	-	6	1445	c.678C>T	c.(676-678)atC>atT	p.I226I	ALDH1A2_ENST00000559517.1_Silent_p.I130I|ALDH1A2_ENST00000537372.1_Silent_p.I205I|ALDH1A2_ENST00000558231.1_Silent_p.I197I|ALDH1A2_ENST00000347587.3_Silent_p.I226I	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	226					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TTACCTCCTTGATGAGGGCTC	0.473000													48	125					0	0	0.003610	0	0
MPHOSPH6	10200	broad.mit.edu	37	16	82197748	82197748	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:82197748C>T	ENST00000258169.4	-	2	153	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	MPHOSPH6_ENST00000563504.1_Missense_Mutation_p.E17K|MPHOSPH6_ENST00000567729.1_5'UTR|MPHOSPH6_ENST00000569021.1_Missense_Mutation_p.E35K	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	35	Poly-Glu.				M phase of mitotic cell cycle|maturation of 5.8S rRNA	cytoplasm|nucleolus	protein binding|RNA binding			endometrium(1)|large_intestine(1)|lung(3)	5						ATTTTCTTTTCTTCTTCTTCT	0.353000													22	58					0	0	0.002780	0	0
MIR515-2	574465	broad.mit.edu	37	19	54188280	54188280	+	RNA	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:54188280C>G	ENST00000384883.1	+	0	18					NR_030184.1|NR_030187.1																						CAGTCATTCTCCAAAAGAAAG	0.388000													54	85					0	0	0.003610	0	0
LGI3	203190	broad.mit.edu	37	8	22011497	22011497	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:22011497C>G	ENST00000306317.2	-	5	767	c.478G>C	c.(478-480)Gac>Cac	p.D160H	LGI3_ENST00000424267.2_Missense_Mutation_p.D136H	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	160					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		TTCAGGATGTCCAGGGGCCGG	0.572000													12	81					0	0	0.003163	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580555	140580555	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140580555T>A	ENST00000354757.3	+	1	1208	c.1208T>A	c.(1207-1209)tTg>tAg	p.L403*	PCDHB11_ENST00000536699.1_Nonsense_Mutation_p.L38*	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		403	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACTACACGTTGGAAACAGAG	0.478000													20	114					0	0	0.001882	0	0
ST7L	54879	broad.mit.edu	37	1	113159453	113159453	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:113159453C>T	ENST00000358039.4	-	2	574	c.270G>A	c.(268-270)ttG>ttA	p.L90L	ST7L_ENST00000538187.1_Silent_p.L34L|ST7L_ENST00000490067.1_Silent_p.L73L|ST7L_ENST00000360743.4_Silent_p.L90L|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000369668.2_Silent_p.L90L|ST7L_ENST00000544629.1_Silent_p.L90L|ST7L_ENST00000543570.1_Silent_p.L73L|ST7L_ENST00000343210.7_Silent_p.L90L|ST7L_ENST00000369669.1_5'UTR|ST7L_ENST00000369666.1_Silent_p.L73L	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	90					negative regulation of cell growth	integral to membrane	binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTCCTGATATCAATGAAGAGG	0.299000													10	105					0	0	0.000978	0	0
CYP1A1	1543	broad.mit.edu	37	15	75014950	75014950	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:75014950C>T	ENST00000379727.3	-	2	687	c.489G>A	c.(487-489)gtG>gtA	p.V163V	CYP1A1_ENST00000395049.4_Silent_p.V163V|CYP1A1_ENST00000395048.2_Silent_p.V163V|CYP1A1_ENST00000564596.1_Intron|CYP1A1_ENST00000567032.1_Silent_p.V163V			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	163					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	CCTCCTTGCTCACATGCTCTT	0.582000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				34	110					0	0	0.002836	0	0
IGLV1-40	28825	broad.mit.edu	37	22	22764341	22764341	+	RNA	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:22764341C>T	ENST00000390299.2	+	0	134																											CAGCCGCCCTCAGTGTCTGGG	0.582000											OREG0026360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	64	208					0	0	0.003610	0	0
ATP4A	495	broad.mit.edu	37	19	36054367	36054367	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:36054367C>T	ENST00000262623.3	-	2	103	c.75G>A	c.(73-75)aaG>aaA	p.K25K		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	25					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TCTTGCTCATCTTGGCAGCCA	0.577000													75	280					0	0	0.003610	0	0
DMXL2	23312	broad.mit.edu	37	15	51772963	51772963	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:51772963C>T	ENST00000251076.5	-	24	6627	c.6340G>A	c.(6340-6342)Gaa>Aaa	p.E2114K	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.E1478K|DMXL2_ENST00000543779.2_Missense_Mutation_p.E2114K	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2114						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCTACCATTTCTTCCTGATCC	0.398000													25	130					0	0	0.004656	0	0
MALAT1	378938	broad.mit.edu	37	11	65268341	65268341	+	RNA	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:65268341G>C	ENST00000534336.1	+	0	3109					NR_002819.2																						GAGGTGTAAAGGGATTTATAT	0.403000													16	38					0	0	0.004007	0	0
SHROOM3	57619	broad.mit.edu	37	4	77651964	77651964	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:77651964G>A	ENST00000296043.6	+	4	1416	c.463G>A	c.(463-465)Gag>Aag	p.E155K	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	155					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CAGGCGCAGTGAGCCTGCAGG	0.562000													48	87					0	0	0.003610	0	0
DMXL2	23312	broad.mit.edu	37	15	51773374	51773374	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:51773374C>G	ENST00000251076.5	-	24	6216	c.5929G>C	c.(5929-5931)Gat>Cat	p.D1977H	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.D1341H|DMXL2_ENST00000543779.2_Missense_Mutation_p.D1977H	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1977						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCACCCCAATCAAGATTAAGA	0.408000													72	193					0	0	0.003610	0	0
CELSR1	9620	broad.mit.edu	37	22	46859643	46859643	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:46859643C>T	ENST00000262738.3	-	2	4143	c.4144G>A	c.(4144-4146)Gag>Aag	p.E1382K	CELSR1_ENST00000395964.1_Missense_Mutation_p.E1382K	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1382	EGF-like 2; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TAGCCGCCCTCGCGGCTGCGG	0.687000													5	15					0	0	0.001168	0	0
SCN11A	11280	broad.mit.edu	37	3	38962667	38962667	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:38962667G>A	ENST00000450244.1	-	6	990	c.792C>T	c.(790-792)ctC>ctT	p.L264L	SCN11A_ENST00000456224.3_Silent_p.L264L|SCN11A_ENST00000302328.3_Silent_p.L264L|SCN11A_ENST00000444237.2_Silent_p.L264L			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	264					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAAAGATGCTGAGGCAAAAGA	0.498000													34	252					0	0	0.002836	0	0
MICAL1	64780	broad.mit.edu	37	6	109769984	109769984	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:109769984C>T	ENST00000368952.4	-	12	1962	c.1672G>A	c.(1672-1674)Gat>Aat	p.D558N	MICAL1_ENST00000358807.3_Missense_Mutation_p.D539N|MICAL1_ENST00000358577.3_Missense_Mutation_p.D453N			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	539	CH.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GCTAGCCCATCAGCCCAGGAG	0.622000													56	122					0	0	0.003610	0	0
GIGYF1	64599	broad.mit.edu	37	7	100284421	100284421	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:100284421C>G	ENST00000275732.5	-	7	1754	c.545G>C	c.(544-546)gGa>gCa	p.G182A	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	182										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GCCAGCCCCTCCCTCCTCAAA	0.642000													17	51					0	0	0.007413	0	0
GRXCR2	643226	broad.mit.edu	37	5	145252372	145252372	+	Silent	SNP	G	G	A	rs150272088	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:145252372G>A	ENST00000377976.1	-	1	159	c.160C>T	c.(160-162)Ctg>Ttg	p.L54L		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	54										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GACTCTTGCAGAAAACTGTGA	0.493000													40	92					0	0	0.005524	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222611	140222611	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140222611C>G	ENST00000531613.1	+	1	1705	c.1705C>G	c.(1705-1707)Cgg>Ggg	p.R569G	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R569G|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018911.2	NP_061734.1												p.R569W(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGAGCCTCGGGTGGGTGG	0.721000													36	76					0	0	0.005524	0	0
MCF2L	23263	broad.mit.edu	37	13	113720402	113720402	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:113720402G>C	ENST00000397030.1	+	8	935	c.898G>C	c.(898-900)Gag>Cag	p.E300Q	MCF2L_ENST00000375601.3_Missense_Mutation_p.E271Q|MCF2L_ENST00000375597.4_Missense_Mutation_p.E265Q|MCF2L_ENST00000421756.1_Missense_Mutation_p.E271Q|MCF2L_ENST00000375604.2_Missense_Mutation_p.E324Q|MCF2L_ENST00000442652.2_Missense_Mutation_p.E297Q|MCF2L_ENST00000434480.2_Missense_Mutation_p.E273Q|MCF2L_ENST00000423482.2_Missense_Mutation_p.E265Q|MCF2L_ENST00000535094.2_Missense_Mutation_p.E267Q|MCF2L_ENST00000375608.3_Missense_Mutation_p.E297Q			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	297					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CAGTGTCCTGGAGAGCCTCAG	0.642000													9	19					0	0	0.006214	0	0
GCFC2	6936	broad.mit.edu	37	2	75915007	75915007	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:75915007C>G	ENST00000321027.3	-	11	1769	c.1636G>C	c.(1636-1638)Gat>Cat	p.D546H	GCFC2_ENST00000541687.1_3'UTR|GCFC2_ENST00000409857.3_Missense_Mutation_p.D508H|MRPL19_ENST00000358788.6_Intron	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCF_HUMAN	GC-rich sequence DNA-binding factor 2	546					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity										ACTTTTTTATCTGAACTACTT	0.348000													8	55					0	0	0.004482	0	0
IGLV5-45	28781	broad.mit.edu	37	22	22730768	22730768	+	RNA	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:22730768C>G	ENST00000390296.2	+	0	291																											AGCCGCTTCTCTGGATCCAAA	0.527000													43	147					0	0	0.008740	0	0
SFSWAP	6433	broad.mit.edu	37	12	132198734	132198734	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:132198734G>C	ENST00000261674.4	+	2	478	c.337G>C	c.(337-339)Gag>Cag	p.E113Q	SFSWAP_ENST00000541286.1_Missense_Mutation_p.E113Q	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	113					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						GTGTGATGAAGAGAGGTATTT	0.453000													5	35					0	0	0.000602	0	0
SEPT14	346288	broad.mit.edu	37	7	55873034	55873034	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:55873034G>A	ENST00000388975.3	-	9	1152	c.1036C>T	c.(1036-1038)Cag>Tag	p.Q346*		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	346					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCTTCCCTCTGACATTGATCA	0.348000													5	52					0	0	0.000602	0	0
RIPK2	8767	broad.mit.edu	37	8	90798902	90798902	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:90798902G>A	ENST00000220751.4	+	9	1425	c.1111G>A	c.(1111-1113)Gat>Aat	p.D371N	RIPK2_ENST00000540020.1_Missense_Mutation_p.D234N	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	371					activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TCAAGACAATGATTTTTTATC	0.338000													13	124					0	0	0.001855	0	0
SNAP47	116841	broad.mit.edu	37	1	227923158	227923158	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:227923158G>A	ENST00000366759.4	+	1	462	c.48G>A	c.(46-48)ccG>ccA	p.P16P	SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_Silent_p.P16P	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	16						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CCGAGCGGCCGAGGCGCCGCG	0.761000													3	5					0	0	0.004672	0	0
CPXM1	56265	broad.mit.edu	37	20	2776510	2776510	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:2776510C>A	ENST00000380605.2	-	11	1519	c.1455G>T	c.(1453-1455)tgG>tgT	p.W485C		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	485					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCCGCTTCATCCACTTGATTA	0.637000													21	70					1.96292e-10	2.7107e-10	0.001523	1	0
TIGD2	166815	broad.mit.edu	37	4	90034378	90034378	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:90034378G>C	ENST00000317005.2	+	1	411	c.253G>C	c.(253-255)Gag>Cag	p.E85Q		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	85	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		AGTTATGATAGAGTGGTTTAA	0.393000													15	65					0	0	0.006122	0	0
MFAP1	4236	broad.mit.edu	37	15	44109443	44109443	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:44109443C>T	ENST00000267812.3	-	2	515	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	95						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		TCCACATCTTCACTAATACGG	0.403000													27	145					0	0	0.002096	0	0
HIST2H2BE	8349	broad.mit.edu	37	1	149858021	149858021	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:149858021G>A	ENST00000369155.2	-	1	211	c.170C>T	c.(169-171)tCc>tTc	p.S57F		NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	57					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CATGGCCTTGGACGAGATGCC	0.587000													82	172					0	0	0.003610	0	0
NAPA	8775	broad.mit.edu	37	19	47998837	47998837	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:47998837C>G	ENST00000263354.3	-	4	611	c.312G>C	c.(310-312)ttG>ttC	p.L104F	NAPA-AS1_ENST00000594367.1_RNA|NAPA-AS1_ENST00000593284.1_RNA|NAPA_ENST00000595227.1_Missense_Mutation_p.L65F	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	104					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		TTGCTCGCATCAAACAGTTAA	0.567000													19	216					0	0	0.001523	0	0
BTLA	151888	broad.mit.edu	37	3	112185019	112185019	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:112185019G>C	ENST00000334529.5	-	5	1008	c.806C>G	c.(805-807)tCa>tGa	p.S269*	BTLA_ENST00000474965.1_5'UTR|BTLA_ENST00000383680.4_Nonsense_Mutation_p.S221*	NM_181780.3	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	269					T cell costimulation		receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				TGCCAGTCTTGAGTTCGGTCC	0.418000													35	90					0	0	0.004289	0	0
PRKDC	5591	broad.mit.edu	37	8	48801695	48801695	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:48801695C>A	ENST00000314191.2	-	34	4213	c.4157G>T	c.(4156-4158)gGa>gTa	p.G1386V	PRKDC_ENST00000338368.3_Missense_Mutation_p.G1386V|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1387					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)				CTGGACGTCTCCGATGTTGAA	0.463000								Non-homologous end-joining					18	54					2.4624e-09	3.36045e-09	0.008871	1	0
DNHD1	144132	broad.mit.edu	37	11	6592126	6592126	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:6592126C>T	ENST00000254579.6	+	42	13948	c.13384C>T	c.(13384-13386)Cgc>Tgc	p.R4462C	DNHD1_ENST00000527990.2_Missense_Mutation_p.R4462C	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4462					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCACGTGATTCGCCAAGACGA	0.627000													18	42					0	0	0.004990	0	0
ARHGAP15	55843	broad.mit.edu	37	2	144194548	144194548	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:144194548G>A	ENST00000295095.6	+	8	807	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	AC096558.1_ENST00000549032.1_RNA|AC096558.1_ENST00000550516.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA|AC096558.1_ENST00000442794.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	214					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		CTCTAGCACTGAATTGCTAAG	0.333000													6	39					0	0	0.001984	0	0
USP49	25862	broad.mit.edu	37	6	41774070	41774070	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:41774070C>T	ENST00000394253.3	-	3	981	c.652G>A	c.(652-654)Gac>Aac	p.D218N	USP49_ENST00000373010.1_Missense_Mutation_p.D218N|USP49_ENST00000373006.1_Missense_Mutation_p.D218N|USP49_ENST00000297229.2_Missense_Mutation_p.D218N|USP49_ENST00000373009.3_Missense_Mutation_p.D218N			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	218					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	p.D218N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			gggcccgcgtcgcggggcgTG	0.771000													8	12					0	0	0.003080	0	0
TCN2	6948	broad.mit.edu	37	22	31011378	31011378	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:31011378G>C	ENST00000215838.3	+	5	1165	c.671G>C	c.(670-672)aGa>aCa	p.R224T	TCN2_ENST00000407817.3_Missense_Mutation_p.R197T|TCN2_ENST00000405742.3_Missense_Mutation_p.R220T			P20062	TCO2_HUMAN	transcobalamin II	224					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGGCCATCAGAACAGTGCGA	0.562000													34	78					0	0	0.003271	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43937240	43937240	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:43937240C>T	ENST00000282406.4	+	12	2188	c.2078C>T	c.(2077-2079)tCa>tTa	p.S693L		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	693	Poly-Ser.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAAACTTGCTCATCTTCCAGT	0.398000													11	100					0	0	0.008291	0	0
LRP1B	53353	broad.mit.edu	37	2	141762977	141762977	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:141762977C>G	ENST00000389484.3	-	15	3401	c.2430G>C	c.(2428-2430)ttG>ttC	p.L810F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	810	EGF-like 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L810F(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGGGATAGCCAAGCAAAGTG	0.433000										TSP Lung(27;0.18)			9	72					0	0	0.006214	0	0
INTS5	80789	broad.mit.edu	37	11	62414702	62414702	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:62414702G>C	ENST00000330574.2	-	2	2902	c.2850C>G	c.(2848-2850)ctC>ctG	p.L950L		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	950					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CATGCTCCCGGAGAAAACCCC	0.587000													49	198					0	0	0.003610	0	0
ADCK3	56997	broad.mit.edu	37	1	227149128	227149128	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:227149128C>T	ENST00000366779.1	+	7	2813	c.42C>T	c.(40-42)ggC>ggT	p.G14G	ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366778.1_Intron|ADCK3_ENST00000366777.3_Silent_p.G14G			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	14					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						TGGCTAAAGGCCTTGTCAAGC	0.642000													6	92					0	0	0.001168	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4451467	4451467	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:4451467G>A	ENST00000254718.4	-	12	2001	c.1695C>T	c.(1693-1695)ttC>ttT	p.F565F	MYBBP1A_ENST00000381556.2_Silent_p.F565F			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	565	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GCTGCGCAGTGAAGGGTGTCA	0.662000													22	34					0	0	0.002299	0	0
TAB2	23118	broad.mit.edu	37	6	149700238	149700238	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:149700238G>C	ENST00000367456.1	+	4	1764	c.1187G>C	c.(1186-1188)gGa>gCa	p.G396A	TAB2_ENST00000286332.5_Missense_Mutation_p.G396A|TAB2_ENST00000538427.1_Missense_Mutation_p.G396A|TAB2_ENST00000392282.1_Missense_Mutation_p.G396A|TAB2_ENST00000536230.1_Missense_Mutation_p.G364A			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	396					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						GCTGCCACAGGAGATGAACAG	0.512000													10	45					0	0	0.008291	0	0
VPS13C	54832	broad.mit.edu	37	15	62283250	62283250	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:62283250G>T	ENST00000261517.5	-	18	1600	c.1527C>A	c.(1525-1527)ttC>ttA	p.F509L	VPS13C_ENST00000395898.3_Missense_Mutation_p.F466L|VPS13C_ENST00000249837.3_Missense_Mutation_p.F466L|VPS13C_ENST00000395896.4_Missense_Mutation_p.F509L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	509					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CAATGGCAGTGAAGAGTTTAT	0.299000													21	97					2.32416e-17	3.26791e-17	0.002299	1	0
DHX32	55760	broad.mit.edu	37	10	127542652	127542652	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:127542652C>T	ENST00000284690.3	-	4	1460	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	DHX32_ENST00000368721.1_5'UTR|DHX32_ENST00000284688.6_Intron	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	324						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTTTCTGTTTCATCGAGTGGC	0.388000													13	106					0	0	0.002450	0	0
TET1	80312	broad.mit.edu	37	10	70412289	70412289	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:70412289G>A	ENST00000373644.4	+	6	4608	c.4399G>A	c.(4399-4401)Gaa>Aaa	p.E1467K		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1467					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AATAAGGATAGAAATAGTAGT	0.363000													19	46					0	0	0.002780	0	0
SCN2A	6326	broad.mit.edu	37	2	166231393	166231393	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:166231393G>C	ENST00000375437.2	+	22	4461	c.4171G>C	c.(4171-4173)Gag>Cag	p.E1391Q	SCN2A_ENST00000375427.2_Missense_Mutation_p.E1391Q|SCN2A_ENST00000283256.6_Missense_Mutation_p.E1391Q|SCN2A_ENST00000357398.3_Missense_Mutation_p.E1391Q	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1391					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AGCTCTCATTGAGAGCAATCA	0.378000													22	35					0	0	0.002299	0	0
ASAP1	50807	broad.mit.edu	37	8	131200403	131200403	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:131200403G>A	ENST00000357668.1	-	5	459	c.432C>T	c.(430-432)atC>atT	p.I144I	ASAP1_ENST00000518721.1_Silent_p.I144I			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	144					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CCAAGGTGAAGATCACATTGT	0.353000													44	265					0	0	0.003610	0	0
MYO7B	4648	broad.mit.edu	37	2	128388376	128388376	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:128388376G>C	ENST00000389524.4	+	35	4805	c.4752G>C	c.(4750-4752)gaG>gaC	p.E1584D	MYO7B_ENST00000428314.1_Missense_Mutation_p.E1584D|MYO7B_ENST00000409090.1_Missense_Mutation_p.E437D|MYO7B_ENST00000409816.2_Missense_Mutation_p.E1584D			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1584						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TGTCACCAGAGAAGAGGAAGC	0.637000													5	45					0	0	0.000602	0	0
PROCR	10544	broad.mit.edu	37	20	33764071	33764071	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:33764071G>A	ENST00000216968.4	+	3	505	c.423G>A	c.(421-423)gtG>gtA	p.V141V	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	141					antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	GCTCCTTTGTGAGTTTCCGGC	0.602000													39	120					0	0	0.008740	0	0
SCN1A	6323	broad.mit.edu	37	2	166898905	166898905	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:166898905C>G	ENST00000423058.2	-	12	2090	c.2073G>C	c.(2071-2073)aaG>aaC	p.K691N	AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.K663N|SCN1A_ENST00000303395.4_Missense_Mutation_p.K691N|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.K680N	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	691						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTGACCTTCTCTTTCTCATTT	0.368000													29	45					0	0	0.006320	0	0
CCDC81	60494	broad.mit.edu	37	11	86119250	86119250	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:86119250G>A	ENST00000445632.2	+	9	1323	c.1051G>A	c.(1051-1053)Gat>Aat	p.D351N	CCDC81_ENST00000278487.3_Intron|CCDC81_ENST00000528728.1_Intron|CCDC81_ENST00000354755.1_Missense_Mutation_p.D261N	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	351										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				AGAGATAGAAGATGAGAGACT	0.428000													11	35					0	0	0.000978	0	0
CCR7	1236	broad.mit.edu	37	17	38711414	38711414	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:38711414C>T	ENST00000246657.2	-	3	779	c.717G>A	c.(715-717)atG>atA	p.M239I	CCR7_ENST00000579344.1_Missense_Mutation_p.M233I	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	239					cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				AACAGAAGCTCATGGCCAGCA	0.557000													11	47					0	0	0.008291	0	0
MRC2	9902	broad.mit.edu	37	17	60743976	60743976	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:60743976C>G	ENST00000303375.5	+	4	1257	c.855C>G	c.(853-855)atC>atG	p.I285M		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	285	C-type lectin 1.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						AGACCTACATCAACGGTGAGC	0.677000													4	18					0	0	0.000248	0	0
CERCAM	51148	broad.mit.edu	37	9	131190687	131190687	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:131190687C>T	ENST00000372842.1	+	7	3783	c.639C>T	c.(637-639)atC>atT	p.I213I	CERCAM_ENST00000372838.4_Silent_p.I291I			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	291					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						TCCACCTGATCTTAGAAGCAC	0.612000													5	26					0	0	0.000602	0	0
RP11-467H10.2	0	broad.mit.edu	37	7	76681063	76681063	+	RNA	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:76681063C>T	ENST00000459742.1	+	0	58																											TCACTGTATTCAGCTCCATCA	0.493000													7	97					0	0	0.004482	0	0
CACNA2D1	781	broad.mit.edu	37	7	81667445	81667445	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:81667445C>T	ENST00000356860.3	-	11	1324	c.986G>A	c.(985-987)gGa>gAa	p.G329E	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.G329E	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	329	VWFA.					voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	atctgtaattcctttggctGT	0.353000													33	87					0	0	0.002096	0	0
SOS1	6654	broad.mit.edu	37	2	39250197	39250197	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:39250197C>T	ENST00000426016.1	-	11	1458	c.1372G>A	c.(1372-1374)Gag>Aag	p.E458K	SOS1_ENST00000402219.2_Missense_Mutation_p.E458K|SOS1_ENST00000472480.1_5'UTR|SOS1_ENST00000395038.2_Missense_Mutation_p.E458K			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	458	PH.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ATGTGTCTCTCATGTTTGGCT	0.388000									Noonan syndrome				37	75					0	0	0.004878	0	0
PTPN3	5774	broad.mit.edu	37	9	112144604	112144604	+	Missense_Mutation	SNP	C	C	T	rs147420952	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:112144604C>T	ENST00000412145.1	-	19	4666	c.2113G>A	c.(2113-2115)Gag>Aag	p.E705K	PTPN3_ENST00000394827.3_Missense_Mutation_p.E304K|PTPN3_ENST00000262539.3_Missense_Mutation_p.E682K|PTPN3_ENST00000446349.1_Missense_Mutation_p.E660K|PTPN3_ENST00000374541.2_Missense_Mutation_p.E836K	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	836	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGGACGGGCTCGCTGTCCACT	0.537000													8	26					0	0	0.003080	0	0
HTATSF1	27336	broad.mit.edu	37	X	135593382	135593382	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:135593382G>T	ENST00000535601.1	+	10	1900	c.1478G>T	c.(1477-1479)gGa>gTa	p.G493V	HTATSF1_ENST00000218364.4_Missense_Mutation_p.G493V	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	493	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					CCCGTAAGAGGATCTGAAGAG	0.443000													18	23					1.99824e-07	2.69978e-07	0.004990	1	0
FPR2	2358	broad.mit.edu	37	19	52272587	52272587	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:52272587G>T	ENST00000598776.1	+	2	1448	c.676G>T	c.(676-678)Gcc>Tcc	p.A226S	FPR2_ENST00000598953.1_Missense_Mutation_p.A226S|FPR2_ENST00000340023.6_Missense_Mutation_p.A226S	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	226					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GCTCATTGCAGCCAAGATCCA	0.498000													42	58					4.67007e-22	6.61796e-22	0.008740	1	0
TADA1	117143	broad.mit.edu	37	1	166845422	166845422	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:166845422C>A	ENST00000367874.4	-	1	142	c.49G>T	c.(49-51)Gag>Tag	p.E17*		NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	17					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						CCCAGGGCCTCGCTTAAGTTC	0.667000													9	47					2.74318e-10	3.77856e-10	0.006214	1	0
RERE	473	broad.mit.edu	37	1	8424172	8424172	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:8424172C>G	ENST00000337907.3	-	16	2318	c.1684G>C	c.(1684-1686)Gag>Cag	p.E562Q	RERE_ENST00000377464.1_Missense_Mutation_p.E294Q|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.E562Q|RERE_ENST00000476556.1_Missense_Mutation_p.E8Q	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	562					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CCATCATCCTCTTCCTTGACG	0.587000													13	77					0	0	0.001855	0	0
ATR	545	broad.mit.edu	37	3	142168301	142168301	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:142168301C>G	ENST00000350721.4	-	47	8026	c.7905G>C	c.(7903-7905)caG>caC	p.Q2635H	ATR_ENST00000383101.3_Missense_Mutation_p.Q2571H	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2635	FATC.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CAAGATACATCTGGCATAGTA	0.333000								Other conserved DNA damage response genes					12	72					0	0	0.002450	0	0
NT5DC2	64943	broad.mit.edu	37	3	52558487	52558487	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:52558487C>T	ENST00000307076.4	-	14	1962	c.1562G>A	c.(1561-1563)tGa>tAa	p.*521*	STAB1_ENST00000321725.6_3'UTR|NT5DC2_ENST00000307092.4_Silent_p.*462*|NT5DC2_ENST00000459839.1_Silent_p.*533*|NT5DC2_ENST00000422318.2_Silent_p.*558*	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	0							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		AAGGTGCCCTCAGCGGATGTG	0.612000													98	110					0	0	0.003610	0	0
MPDZ	8777	broad.mit.edu	37	9	13224526	13224526	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:13224526G>A	ENST00000319217.7	-	4	487	c.240C>T	c.(238-240)ctC>ctT	p.L80L	MPDZ_ENST00000536827.1_Silent_p.L80L|MPDZ_ENST00000447879.1_Silent_p.L80L|MPDZ_ENST00000546205.1_Silent_p.L80L|MPDZ_ENST00000541718.1_Silent_p.L80L|MPDZ_ENST00000381022.2_Silent_p.L80L|MPDZ_ENST00000381015.4_Silent_p.L80L	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	80					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)		CAGCTGGGCTGAGATGAGGAA	0.378000													27	33					0	0	0.004656	0	0
PGK2	5232	broad.mit.edu	37	6	49754286	49754286	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:49754286C>T	ENST00000304801.3	-	1	767	c.615G>A	c.(613-615)gtG>gtA	p.V205V		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	205					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GAAAGGGTCTCACTGGGTTTT	0.433000													19	80					0	0	0.006122	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			20	57					0	0	0.001523	0	0
TCP10L	140290	broad.mit.edu	37	21	33956596	33956596	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr21:33956596C>G	ENST00000300258.3	-	2	132	c.19G>C	c.(19-21)Gag>Cag	p.E7Q	AP000275.65_ENST00000553001.1_Intron|TCP10L_ENST00000472557.1_Intron	NM_144659.5	NP_653260.1			t-complex 10-like											breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						TCCCTGGCCTCGAGTTGACCT	0.647000													14	36					0	0	0.002450	0	0
MGA	23269	broad.mit.edu	37	15	42021428	42021428	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:42021428C>T	ENST00000219905.7	+	11	3905	c.3724C>T	c.(3724-3726)Cga>Tga	p.R1242*	MGA_ENST00000570161.1_Nonsense_Mutation_p.R1242*|MGA_ENST00000389936.4_Nonsense_Mutation_p.R1242*|MGA_ENST00000545763.1_Nonsense_Mutation_p.R1242*|MGA_ENST00000566586.1_Nonsense_Mutation_p.R1242*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1242						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.R1242*(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TGCTCGAGTTCGAGTATATGA	0.413000													12	46					0	0	0.001368	0	0
GMPS	8833	broad.mit.edu	37	3	155633963	155633963	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:155633963C>T	ENST00000496455.2	+	9	1529	c.1194C>T	c.(1192-1194)atC>atT	p.I398I	GMPS_ENST00000295920.7_Silent_p.I299I	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase						glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CAGAGCTCATCAGAAAGTTGA	0.403000			T	MLL	AML								36	84					0	0	0.007835	0	0
SEMA3F	6405	broad.mit.edu	37	3	50211515	50211515	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:50211515G>A	ENST00000002829.3	+	4	788	c.304G>A	c.(304-306)Gag>Aag	p.E102K	SEMA3F_ENST00000413852.1_Missense_Mutation_p.E34K|SEMA3F_ENST00000434342.1_Missense_Mutation_p.E102K	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	102	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)		ACAGCGCATCGAGGAATGCGT	0.627000													38	37					0	0	0.004878	0	0
GTPBP3	84705	broad.mit.edu	37	19	17452360	17452360	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:17452360G>A	ENST00000324894.8	+	9	1395	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N	GTPBP3_ENST00000361619.5_Missense_Mutation_p.D465N|GTPBP3_ENST00000358792.7_Missense_Mutation_p.D475N|GTPBP3_ENST00000600625.1_Missense_Mutation_p.D422N|GTPBP3_ENST00000598038.1_3'UTR	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	443					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						GGGTTGCCTGGATGCCCTCGG	0.667000													11	72					0	0	0.008291	0	0
FBXW8	26259	broad.mit.edu	37	12	117402587	117402587	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:117402587G>A	ENST00000455858.2	+	5	638	c.565G>A	c.(565-567)Gag>Aag	p.E189K	FBXW8_ENST00000309909.5_Missense_Mutation_p.E255K	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	255							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		CGAGGAGGATGAGCCTGGAAT	0.522000													19	176					0	0	0.008871	0	0
MCM6	4175	broad.mit.edu	37	2	136626327	136626327	+	Silent	SNP	G	G	A	rs34276971		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:136626327G>A	ENST00000264156.2	-	4	529	c.469C>T	c.(469-471)Ctg>Ttg	p.L157L		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	157					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TCCAAGCACAGAAAAGTTCCG	0.517000													41	99					0	0	0.006230	0	0
NCR1	9437	broad.mit.edu	37	19	55420603	55420603	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:55420603G>A	ENST00000594765.1	+	4	380		c.e4-1		NCR1_ENST00000338835.5_Splice_Site|NCR1_ENST00000291890.4_Splice_Site|NCR1_ENST00000447255.1_Splice_Site|NCR1_ENST00000350790.5_Splice_Site|NCR1_ENST00000357397.5_Splice_Site|NCR1_ENST00000598576.1_Splice_Site			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1						cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		TTCTCTCATAGAAATGTATGA	0.493000													5	65					0	0	0.001168	0	0
NCAPG2	54892	broad.mit.edu	37	7	158437065	158437065	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:158437065G>C	ENST00000409339.3	-	27	3409	c.3296C>G	c.(3295-3297)tCa>tGa	p.S1099*	NCAPG2_ENST00000356309.3_Nonsense_Mutation_p.S1099*|NCAPG2_ENST00000409423.1_Nonsense_Mutation_p.S1099*|NCAPG2_ENST00000541468.1_Nonsense_Mutation_p.S553*|NCAPG2_ENST00000275830.10_Nonsense_Mutation_p.S844*|NCAPG2_ENST00000449727.2_Nonsense_Mutation_p.S1099*	NM_001281933.1	NP_001268862.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	1099					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CCTCACTTTTGAGCTTTTATG	0.358000													21	145					0	0	0.002299	0	0
NOX1	27035	broad.mit.edu	37	X	100118475	100118475	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:100118475G>A	ENST00000372966.3	-	3	456	c.251C>T	c.(250-252)tCa>tTa	p.S84L	NOX1_ENST00000372964.1_Splice_Site_p.S84L|NOX1_ENST00000372960.4_Intron|NOX1_ENST00000217885.5_Splice_Site_p.S84L	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	84	Ferric oxidoreductase.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						GGGACTCACTGAGCAGGTGCC	0.532000													6	21					0	0	0.003080	0	0
NUSAP1	51203	broad.mit.edu	37	15	41648287	41648287	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:41648287G>T	ENST00000260359.6	+	5	718	c.454G>T	c.(454-456)Gat>Tat	p.D152Y	NUSAP1_ENST00000450592.2_Missense_Mutation_p.D144Y|NUSAP1_ENST00000560747.1_Missense_Mutation_p.D166Y|NUSAP1_ENST00000414849.2_Missense_Mutation_p.D167Y|NUSAP1_ENST00000559596.1_Missense_Mutation_p.D167Y|NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000560177.1_Missense_Mutation_p.D166Y|NUSAP1_ENST00000450318.1_Missense_Mutation_p.D167Y	NM_001243142.1|NM_001243143.1|NM_016359.4|NM_018454.7	NP_001230071.1|NP_001230072.1|NP_057443.2|NP_060924.4	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	167					cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		TCTCTACACAGATGAGTCATC	0.358000													5	20					0.00198382	0.00261291	0.001984	1	0
INPP5F	22876	broad.mit.edu	37	10	121586615	121586615	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:121586615C>G	ENST00000361976.2	+	20	2888	c.2722C>G	c.(2722-2724)Ctt>Gtt	p.L908V	INPP5F_ENST00000369080.3_Missense_Mutation_p.L298V	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	908							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		GTCCCAGTCTCTTAGCAGCAC	0.488000													14	68					0	0	0.001855	0	0
GABRE	2564	broad.mit.edu	37	X	151138714	151138714	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:151138714G>A	ENST00000370325.1	-	2	270	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	GABRE_ENST00000370328.3_Missense_Mutation_p.R73C|GABRE_ENST00000393914.3_5'UTR			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	73					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.R73G(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTCAGGATGCGAGAGGCTTCT	0.547000													24	101					0	0	0.004656	0	0
SMR3A	26952	broad.mit.edu	37	4	71232530	71232530	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:71232530G>A	ENST00000226460.4	+	3	320	c.224G>A	c.(223-225)aGa>aAa	p.R75K		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	75	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				GGTCCAGGGAGAATCCCACCA	0.537000													27	173					0	0	0.007291	0	0
SLC9A7P1	121456	broad.mit.edu	37	12	98849026	98849026	+	RNA	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:98849026G>A	ENST00000554295.1	-	0	1897					NR_033801.1																						GCGGGGAGCCGCTGTGTCTCC	0.602000													5	15					0	0	0.000602	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934854	113934854	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:113934854G>C	ENST00000335953.4	+	2	1212	c.832G>C	c.(832-834)Gag>Cag	p.E278Q	ZBTB16_ENST00000392996.2_Missense_Mutation_p.E278Q	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	278					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		AAGAGGCAAAGAGGGGCCTGG	0.632000													8	41					0	0	0.004482	0	0
ZNF687	57592	broad.mit.edu	37	1	151262612	151262612	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:151262612C>A	ENST00000368879.2	+	7	3077	c.2979C>A	c.(2977-2979)ttC>ttA	p.F993L		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	993					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGAAAAAGTTCCCCTGTCGCC	0.612000													14	95					5.8336e-16	8.16001e-16	0.003271	1	0
FCRL5	83416	broad.mit.edu	37	1	157514314	157514314	+	Silent	SNP	C	C	T	rs112294248		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:157514314C>T	ENST00000361835.3	-	5	739	c.582G>A	c.(580-582)ctG>ctA	p.L194L	FCRL5_ENST00000368191.3_Silent_p.L109L|FCRL5_ENST00000356953.4_Silent_p.L194L|FCRL5_ENST00000368189.3_Silent_p.L194L|FCRL5_ENST00000368190.3_Silent_p.L194L	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	194	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGCTGGCTCTCAGCACTGGAC	0.557000													35	71					0	0	0.006230	0	0
SULT1A2	6799	broad.mit.edu	37	16	28603594	28603594	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:28603594G>A	ENST00000533150.1	-	3	1782	c.666C>T	c.(664-666)ttC>ttT	p.F222F	SULT1A2_ENST00000335715.4_Silent_p.F255F|SULT1A2_ENST00000395630.1_Silent_p.F255F			P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	255					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						CTTTCCTCATGAAGGGGGAGA	0.602000													45	152					0	0	0.003610	0	0
ABCB8	11194	broad.mit.edu	37	7	150732745	150732745	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:150732745G>A	ENST00000358849.4	+	6	936	c.843G>A	c.(841-843)ctG>ctA	p.L281L	ABCB8_ENST00000477719.1_Silent_p.L281L|ABCB8_ENST00000477092.1_Silent_p.L281L|ABCB8_ENST00000498578.1_Silent_p.L281L|ABCB8_ENST00000542328.1_Silent_p.L193L|ABCB8_ENST00000356058.4_Silent_p.L318L|ABCB8_ENST00000297504.6_Silent_p.L298L	NM_001282291.1|NM_001282293.1|NM_007188.3	NP_001269220.1|NP_001269222.1|NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	298	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCTGCTGCTGATGGTGGCCA	0.652000													35	76					0	0	0.002836	0	0
HPS5	11234	broad.mit.edu	37	11	18309162	18309162	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:18309162G>A	ENST00000396253.3	-	17	2757	c.2295C>T	c.(2293-2295)atC>atT	p.I765I	HPS5_ENST00000349215.3_Silent_p.I879I|HPS5_ENST00000438420.2_Silent_p.I765I|HPS5_ENST00000352460.3_5'UTR	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	879						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AAAGTTGTATGATATCCGATG	0.393000									Hermansky-Pudlak syndrome				20	50					0	0	0.007413	0	0
RNF34	80196	broad.mit.edu	37	12	121858500	121858500	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:121858500T>G	ENST00000361234.5	+	5	1019	c.847T>G	c.(847-849)Tat>Gat	p.Y283D	RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392464.2_Missense_Mutation_p.Y283D|RNF34_ENST00000392465.3_Missense_Mutation_p.Y284D	NM_025126.3	NP_079402.2	Q969K3	RNF34_HUMAN	ring finger protein 34, E3 ubiquitin protein ligase	283					apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding			breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		TTTTGTCAACTATTCTGGCTG	0.418000													5	149					0	0	0.001168	0	0
ZCCHC9	84240	broad.mit.edu	37	5	80604427	80604427	+	Silent	SNP	C	C	T	rs149561750	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:80604427C>T	ENST00000254037.2	+	2	3587	c.432C>T	c.(430-432)ccC>ccT	p.P144P	ZCCHC9_ENST00000407610.3_Silent_p.P144P|ZCCHC9_ENST00000380199.5_Silent_p.P144P|ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000438268.2_Silent_p.P144P			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	144							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		CAGATTGCCCCGCCGCCCTTG	0.473000													20	51					0	0	0.001523	0	0
THBD	7056	broad.mit.edu	37	20	23028421	23028421	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:23028421C>T	ENST00000377103.2	-	1	1957	c.1721G>A	c.(1720-1722)aGa>aAa	p.R574K		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	574					blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	CGCTCAGAGTCTCTGCGGCGT	0.647000													6	8					0	0	0.001168	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145473774	145473774	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:145473774C>T	ENST00000323397.4	+	4	1739	c.446C>T	c.(445-447)tCg>tTg	p.S149L		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	149										endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACCGATACCTCGCCCTCAGGC	0.652000													11	47					0	0	0.008291	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73078785	73078785	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:73078785G>A	ENST00000263674.3	+	21	6502	c.6152G>A	c.(6151-6153)cGa>cAa	p.R2051Q		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	2051					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						ACTGTGGGTCGAGACGACAGC	0.632000													13	82					0	0	0.004007	0	0
SIX3	6496	broad.mit.edu	37	2	45169727	45169727	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:45169727C>T	ENST00000260653.3	+	1	826	c.484C>T	c.(484-486)Cac>Tac	p.H162Y		NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	162					visual perception	nucleus				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAAGGAGTCTCACGGCAAGCT	0.662000													6	21					0	0	0.001984	0	0
CELSR1	9620	broad.mit.edu	37	22	46759985	46759985	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:46759985C>T	ENST00000262738.3	-	34	8942	c.8943G>A	c.(8941-8943)aaG>aaA	p.K2981K		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2981					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCCCAGGGCTCTTGACTGTGA	0.687000													22	50					0	0	0.002299	0	0
SCN2A	6326	broad.mit.edu	37	2	166198839	166198839	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:166198839C>T	ENST00000375437.2	+	15	2712	c.2422C>T	c.(2422-2424)Ctc>Ttc	p.L808F	SCN2A_ENST00000375427.2_Missense_Mutation_p.L808F|SCN2A_ENST00000283256.6_Missense_Mutation_p.L808F|SCN2A_ENST00000357398.3_Missense_Mutation_p.L808F	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	808					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AGAAATGTTTCTCAAGATAAT	0.343000													24	51					0	0	0.004656	0	0
IFT122	55764	broad.mit.edu	37	3	129231193	129231193	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:129231193C>G	ENST00000296266.3	+	25	3270	c.3078C>G	c.(3076-3078)ttC>ttG	p.F1026L	IFT122_ENST00000349441.2_Missense_Mutation_p.F865L|IFT122_ENST00000504021.1_Missense_Mutation_p.F852L|IFT122_ENST00000507564.1_Missense_Mutation_p.F968L|IFT122_ENST00000348417.2_Missense_Mutation_p.F975L|IFT122_ENST00000431818.2_Missense_Mutation_p.F825L|IFT122_ENST00000440957.2_Missense_Mutation_p.F766L|IFT122_ENST00000347300.2_Missense_Mutation_p.F916L	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	975					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						AAACTCTTTTCAACATCTCCA	0.537000													45	201					0	0	0.003610	0	0
BCL9	607	broad.mit.edu	37	1	147096327	147096327	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:147096327G>A	ENST00000234739.3	+	10	4588	c.3848G>A	c.(3847-3849)aGa>aAa	p.R1283K		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1283	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CAAGCCCCCAGAATGGGACTA	0.587000			T	"""IGH@, IGL@"""	B-ALL								9	44					0	0	0.004482	0	0
SEMA4A	64218	broad.mit.edu	37	1	156126258	156126258	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:156126258G>C	ENST00000368285.3	+	3	460	c.193G>C	c.(193-195)Gac>Cac	p.D65H	SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_5'UTR|SEMA4A_ENST00000355014.2_Missense_Mutation_p.D65H|SEMA4A_ENST00000368282.1_Missense_Mutation_p.D65H|SEMA4A_ENST00000368284.1_5'UTR	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	65	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CCAGGATTTTGACACTCTGCT	0.542000													28	60					0	0	0.008361	0	0
IMPG2	50939	broad.mit.edu	37	3	100961751	100961751	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:100961751G>A	ENST00000193391.7	-	14	2990	c.2803C>T	c.(2803-2805)Ctg>Ttg	p.L935L		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	935	SEA 2.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TAGGGAACCAGCTACAATATA	0.403000													25	69					0	0	0.003954	0	0
GAS2L2	246176	broad.mit.edu	37	17	34076186	34076186	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:34076186G>C	ENST00000254466.6	-	3	705	c.678C>G	c.(676-678)gtC>gtG	p.V226V	GAS2L2_ENST00000587565.1_Silent_p.V210V	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	226	GAR.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAGACACTTTGACCATGGAGA	0.592000													5	29					0	0	0.000602	0	0
LAX1	54900	broad.mit.edu	37	1	203734754	203734754	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:203734754C>G	ENST00000442561.2	+	1	451	c.61C>G	c.(61-63)Ctg>Gtg	p.L21V	LAX1_ENST00000367217.5_Intron	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	21					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GTCCAGCACTCTGCATGTGAC	0.557000													6	36					0	0	0.001984	0	0
SRCAP	10847	broad.mit.edu	37	16	30723652	30723652	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:30723652C>G	ENST00000262518.4	+	13	2270	c.1885C>G	c.(1885-1887)Ctg>Gtg	p.L629V	SRCAP_ENST00000344771.4_Missense_Mutation_p.L629V|SRCAP_ENST00000395059.2_Missense_Mutation_p.L629V	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	629					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCTAGACTGGCTGGTTACCAT	0.522000													6	155					0	0	0.001168	0	0
CCDC28B	79140	broad.mit.edu	37	1	32669900	32669900	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:32669900G>C	ENST00000421922.2	+	4	545	c.445G>C	c.(445-447)Gag>Cag	p.E149Q	CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Missense_Mutation_p.E149Q			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	149										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGAAGAGGAAGAGGATGGGGT	0.582000													9	55					0	0	0.006214	0	0
SPARCL1	8404	broad.mit.edu	37	4	88401595	88401595	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:88401595C>G	ENST00000418378.1	-	10	2317	c.1746G>C	c.(1744-1746)aaG>aaC	p.K582N	SPARCL1_ENST00000282470.6_Missense_Mutation_p.K582N|SPARCL1_ENST00000503414.1_Missense_Mutation_p.K457N	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	582					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	p.N584fs*25(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		GGTAGTTTTTCTTAAAGTCCC	0.423000													27	81					0	0	0.001786	0	0
CENPE	1062	broad.mit.edu	37	4	104079969	104079969	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:104079969C>T	ENST00000265148.3	-	23	2765	c.2676G>A	c.(2674-2676)ctG>ctA	p.L892L	CENPE_ENST00000380026.3_Silent_p.L867L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	892					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ATTGTTCCTTCAGCTGTTCCA	0.348000													22	49					0	0	0.001882	0	0
LONP1	9361	broad.mit.edu	37	19	5694465	5694465	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:5694465G>A	ENST00000360614.3	-	15	2410	c.2253C>T	c.(2251-2253)ttC>ttT	p.F751F	LONP1_ENST00000585374.1_Silent_p.F637F|LONP1_ENST00000540670.2_Silent_p.F555F|LONP1_ENST00000590729.1_Silent_p.F621F|LONP1_ENST00000593119.1_Silent_p.F687F	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	751					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTCCACGGTGAACACGGGCT	0.642000													5	63					0	0	0.001168	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42092064	42092064	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:42092064G>T	ENST00000457542.2	+	3	444	c.158G>T	c.(157-159)aGa>aTa	p.R53I	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R53I|MAPKBP1_ENST00000260357.7_Intron|MAPKBP1_ENST00000507762.1_3'UTR|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R53I|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.R53I	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	53										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TCTGGAGGCAGAGGACTTGCC	0.498000													61	169					4.79706e-38	6.83371e-38	0.003610	1	0
MLLT10	8028	broad.mit.edu	37	10	22002839	22002839	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:22002839C>T	ENST00000377072.3	+	15	2234	c.1886C>T	c.(1885-1887)tCa>tTa	p.S629L	MLLT10_ENST00000446906.2_Missense_Mutation_p.S613L|MLLT10_ENST00000307729.7_Missense_Mutation_p.S613L|MLLT10_ENST00000377059.3_Missense_Mutation_p.S613L	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	629	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CTCTCTCCCTCAGCTGTGTCA	0.473000			T	"""MLL, PICALM, CDK6"""	AL								20	78					0	0	0.001523	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808555	18808555	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:18808555C>T	ENST00000400664.1	+	1	1132	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	360						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCGAGGCTTCAGCCGGAAGG	0.692000													5	23					0	0	0.003080	0	0
TET1	80312	broad.mit.edu	37	10	70412337	70412337	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:70412337C>G	ENST00000373644.4	+	6	4656	c.4447C>G	c.(4447-4449)Cca>Gca	p.P1483A		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1483					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TCATGGGTGTCCAATTGCTAA	0.348000													12	46					0	0	0.001855	0	0
ST14	6768	broad.mit.edu	37	11	130059777	130059777	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:130059777C>T	ENST00000278742.5	+	5	1002	c.584C>T	c.(583-585)tCa>tTa	p.S195L		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	195					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GTGGTCACCTCAGTGGTGGCT	0.701000													18	85					0	0	0.008871	0	0
SAP130	79595	broad.mit.edu	37	2	128753985	128753985	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:128753985G>T	ENST00000357702.5	-	11	1503	c.1372C>A	c.(1372-1374)Ccc>Acc	p.P458T	SAP130_ENST00000259234.6_Missense_Mutation_p.P432T|SAP130_ENST00000259235.3_Missense_Mutation_p.P458T	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	458					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CCGGAGATGGGAATCAGGCTA	0.562000													14	54					7.93312e-07	1.06651e-06	0.002450	1	0
NCAM2	4685	broad.mit.edu	37	21	22658708	22658708	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr21:22658708G>A	ENST00000400546.1	+	4	706	c.457G>A	c.(457-459)Gag>Aag	p.E153K	NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Missense_Mutation_p.E178K	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	153	Ig-like C2-type 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GTATCATAATGAGGAAGTCAC	0.388000													9	63					0	0	0.000978	0	0
ARFRP1	10139	broad.mit.edu	37	20	62331869	62331869	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:62331869C>T	ENST00000359715.5	-	7	1098	c.532G>A	c.(532-534)Gag>Aag	p.E178K	ARFRP1_ENST00000609142.1_3'UTR|ARFRP1_ENST00000607873.1_Missense_Mutation_p.E131K|ARFRP1_ENST00000324228.2_Missense_Mutation_p.E178K|ARFRP1_ENST00000485858.1_5'UTR|ARFRP1_ENST00000440854.1_3'UTR			Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1						small GTPase mediated signal transduction	Golgi apparatus|membrane fraction	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			TCGATGCCCTCGCGCACCCCT	0.701000													18	55					0	0	0.006122	0	0
CAMKK1	84254	broad.mit.edu	37	17	3779565	3779565	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:3779565G>A	ENST00000381771.2	-	11	1209	c.1062C>T	c.(1060-1062)ttC>ttT	p.F354F	CAMKK1_ENST00000381769.2_Silent_p.F343F|CAMKK1_ENST00000158166.5_Silent_p.F354F|CAMKK1_ENST00000348335.2_Silent_p.F316F			Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	316	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		CGGGGGCCATGAATGCTGGGG	0.627000													21	37					0	0	0.001882	0	0
FREM1	158326	broad.mit.edu	37	9	14805089	14805089	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:14805089C>T	ENST00000380881.4	-	20	4154	c.3339G>A	c.(3337-3339)ctG>ctA	p.L1113L	FREM1_ENST00000380880.3_Silent_p.L1112L|FREM1_ENST00000422223.2_Silent_p.L1112L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1112					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GTTCTATCCTCAGATGCCTGG	0.408000													52	64					0	0	0.003610	0	0
CCDC144CP	348254	broad.mit.edu	37	17	20224844	20224844	+	RNA	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:20224844C>T	ENST00000580225.1	+	0	105				CCDC144CP_ENST00000340196.4_RNA																							TTAGACCAGCCCCAGCACGAT	0.652000													7	223					0	0	0.008291	0	0
HOXA10	3206	broad.mit.edu	37	7	27211670	27211670	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:27211670G>T	ENST00000283921.4	-	2	1080	c.1081C>A	c.(1081-1083)Ctt>Att	p.L361I	RP1-170O19.20_ENST00000465941.1_Intron|RP1-170O19.20_ENST00000470747.4_Intron|HOXA10_ENST00000521421.1_5'UTR|HOXA10_ENST00000396344.4_Missense_Mutation_p.L45I	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	361					spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						TCTCGAGTAAGGTACATATTG	0.522000													75	696					1.52378e-38	2.17262e-38	0.003610	1	0
BLOC1S1	2647	broad.mit.edu	37	12	56113319	56113319	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:56113319G>A	ENST00000547076.1	+	4	669	c.154G>A	c.(154-156)Gag>Aag	p.E52K	RP11-644F5.10_ENST00000550412.1_Intron|BLOC1S1_ENST00000548556.1_Missense_Mutation_p.E52K|BLOC1S1_ENST00000549147.1_3'UTR|RP11-644F5.10_ENST00000549424.1_Intron|BLOC1S1_ENST00000548925.1_Missense_Mutation_p.E130K|BLOC1S1_ENST00000257899.2_Missense_Mutation_p.E102K			P78537	BL1S1_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 1	130					cellular membrane organization|melanosome organization|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex|lysosomal membrane	protein binding			breast(1)|endometrium(1)|large_intestine(1)|prostate(1)	4						TCGGAGCATCGAGCTGGACAT	0.577000													14	58					0	0	0.004990	0	0
SKP1	6500	broad.mit.edu	37	5	133502935	133502935	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:133502935C>T	ENST00000353411.6	-	3	281		c.e3-1		SKP1_ENST00000522855.1_Splice_Site|SKP1_ENST00000521216.1_Splice_Site|CTD-2410N18.5_ENST00000519718.1_Splice_Site|SKP1_ENST00000517625.1_Splice_Site|SKP1_ENST00000522552.1_Splice_Site	NM_170679.2	NP_733779.1	P63208	SKP1_HUMAN	S-phase kinase-associated protein 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|G1/S transition of mitotic cell cycle|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTCCCAAATCTAAGAAAACC	0.353000													12	69					0	0	0.000978	0	0
KCNT1	57582	broad.mit.edu	37	9	138657499	138657499	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:138657499G>A	ENST00000298480.5	+	13	1304	c.1230G>A	c.(1228-1230)acG>acA	p.T410T	KCNT1_ENST00000371757.2_Silent_p.T410T|KCNT1_ENST00000263604.3_Silent_p.T391T|KCNT1_ENST00000486577.2_Silent_p.T371T|KCNT1_ENST00000488444.2_Silent_p.T391T|KCNT1_ENST00000491806.2_Silent_p.T377T|KCNT1_ENST00000490355.2_Silent_p.T391T|KCNT1_ENST00000487664.1_Silent_p.T365T			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	410						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TGTGCCCCACGGAGATGGATG	0.657000													5	10					0	0	0.000602	0	0
PCDH9	5101	broad.mit.edu	37	13	67802023	67802023	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:67802023C>A	ENST00000544246.1	-	2	1241	c.550G>T	c.(550-552)Ggg>Tgg	p.G184W	PCDH9_ENST00000328454.5_Missense_Mutation_p.G184W|PCDH9_ENST00000456367.1_Missense_Mutation_p.G184W|PCDH9_ENST00000377865.2_Missense_Mutation_p.G184W|PCDH9_ENST00000377861.3_Missense_Mutation_p.G184W	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	184	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACACTCTGCCCATTTAACAAT	0.428000													7	141					0.00198382	0.00261291	0.001984	1	0
PHF1	5252	broad.mit.edu	37	6	33383754	33383754	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:33383754G>C	ENST00000374516.3	+	15	1854	c.1583G>C	c.(1582-1584)gGa>gCa	p.G528A	PHF1_ENST00000374512.3_3'UTR	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	528					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				ACTGGGGGAGGAGTCCGAGGT	0.617000													22	123					0	0	0.002780	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904609	73904609	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:73904609C>G	ENST00000342056.2	+	15	2726	c.2328C>G	c.(2326-2328)atC>atG	p.I776M	KCNQ5_ENST00000402622.2_Missense_Mutation_p.I767M|KCNQ5_ENST00000370398.1_Missense_Mutation_p.I757M|KCNQ5_ENST00000403813.2_Missense_Mutation_p.I748M|KCNQ5_ENST00000355635.3_Missense_Mutation_p.I758M|KCNQ5_ENST00000355194.4_Missense_Mutation_p.I757M|KCNQ5_ENST00000414165.2_Missense_Mutation_p.I647M	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	757					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TCCCAGCCATCAAGCATCTGC	0.537000													17	34					0	0	0.007413	0	0
FNBP4	23360	broad.mit.edu	37	11	47744605	47744605	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:47744605G>C	ENST00000263773.5	-	15	2740	c.2728C>G	c.(2728-2730)Cct>Gct	p.P910A		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	910	Pro-rich.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						ggaggaggaggaggtggtggt	0.493000													6	6					0	0	0.001168	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971003	21971003	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:21971003C>T	ENST00000304494.5	-	2	625	c.355G>A	c.(355-357)Gag>Aag	p.E119K	CDKN2A_ENST00000494262.1_Missense_Mutation_p.E68K|CDKN2A_ENST00000446177.1_Missense_Mutation_p.E119K|CDKN2A_ENST00000498628.2_Missense_Mutation_p.E68K|CDKN2A_ENST00000578845.2_Missense_Mutation_p.E68K|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Silent_p.*174*|CDKN2A_ENST00000579122.1_Missense_Mutation_p.E119K|CDKN2A_ENST00000498124.1_Missense_Mutation_p.E119K|CDKN2A_ENST00000479692.2_Missense_Mutation_p.E68K|CDKN2A_ENST00000530628.2_Silent_p.*133*|CDKN2A_ENST00000579755.1_Silent_p.*133*|CDKN2A_ENST00000497750.1_Missense_Mutation_p.E68K	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	119			E -> Q (in a biliary tract tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.E119*(4)|p.E119Q(2)|p.0(1)|p.A118fs*10(1)|p.A118fs*27(1)|p.*174L(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCAGCTCCTCAGCCAGGTCC	0.726000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			14	21					0	0	0.001855	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51958762	51958762	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:51958762T>C	ENST00000321424.3	-	4	1027	c.961A>G	c.(961-963)Agg>Ggg	p.R321G	SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.R228G|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.R212G	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	321	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCTTCATCCCTCACGTGCACT	0.642000													6	41					0	0	0.001168	0	0
KANSL1	284058	broad.mit.edu	37	17	44144094	44144094	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:44144094G>A	ENST00000262419.6	-	6	2127	c.1657C>T	c.(1657-1659)Cag>Tag	p.Q553*	KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000432791.1_Nonsense_Mutation_p.Q553*|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.Q553*|KANSL1_ENST00000572904.1_Nonsense_Mutation_p.Q553*|KANSL1_ENST00000575318.1_Nonsense_Mutation_p.Q553*	NM_001193466.1	NP_001180395	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	553						MLL1 complex	protein binding										AAGACAGGCTGAAGACTATAC	0.398000													12	35					0	0	0.001368	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37374019	37374019	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:37374019C>G	ENST00000233057.4	-	4	539	c.217G>C	c.(217-219)Gag>Cag	p.E73Q	EIF2AK2_ENST00000395127.2_Missense_Mutation_p.E73Q|EIF2AK2_ENST00000405334.1_Missense_Mutation_p.E73Q	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	73	DRBM 1.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				TTAAGTATCTCAACAGCTAAT	0.343000													26	64					0	0	0.003954	0	0
ABCA8	10351	broad.mit.edu	37	17	66925208	66925208	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:66925208G>A	ENST00000269080.2	-	8	1244	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	ABCA8_ENST00000430352.2_Silent_p.F369F|ABCA8_ENST00000586539.1_Silent_p.F369F	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	369						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTCCAAGCATGAAGGCAAAGG	0.458000													24	76					0	0	0.006320	0	0
NCAN	1463	broad.mit.edu	37	19	19334931	19334931	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:19334931C>G	ENST00000252575.6	+	4	676	c.577C>G	c.(577-579)Cgg>Ggg	p.R193G		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan		Link 1.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			TGCAGCCCCTCGGCATCTACA	0.602000													11	41					0	0	0.008291	0	0
SLC15A2	6565	broad.mit.edu	37	3	121630438	121630438	+	Missense_Mutation	SNP	C	C	G	rs138471341		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:121630438C>G	ENST00000489711.1	+	4	741	c.353C>G	c.(352-354)tCc>tGc	p.S118C	SLC15A2_ENST00000295605.2_Intron	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	118					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	p.S118F(1)		NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	ATCTATCTCTCCTTGGTGTAT	0.418000													22	30					0	0	0.003330	0	0
DHX29	54505	broad.mit.edu	37	5	54585110	54585110	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:54585110C>T	ENST00000251636.5	-	8	1202	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	352							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TTCTCTTCTTCAGTAGCAGCT	0.313000													11	86					0	0	0.000978	0	0
KIAA0355	9710	broad.mit.edu	37	19	34791501	34791501	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:34791501G>A	ENST00000299505.6	+	2	996	c.123G>A	c.(121-123)ctG>ctA	p.L41L		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	41								p.L41L(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GCCGAGCACTGAGTGCTCCCC	0.637000													24	65					0	0	0.002299	0	0
OR10J3	441911	broad.mit.edu	37	1	159284102	159284102	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:159284102G>A	ENST00000332217.5	-	1	347	c.348C>T	c.(346-348)ctC>ctT	p.L116L		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					CCATGACTGTGAGCAGGAAGC	0.507000													15	79					0	0	0.004007	0	0
DCAF12	25853	broad.mit.edu	37	9	34107359	34107359	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:34107359C>T	ENST00000361264.4	-	3	879	c.538G>A	c.(538-540)Gat>Aat	p.D180N	DCAF12_ENST00000463286.1_5'UTR	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	180						centrosome|CUL4 RING ubiquitin ligase complex				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						AAACTTACATCTCCTACACAC	0.502000													29	73					0	0	0.006320	0	0
USPL1	10208	broad.mit.edu	37	13	31232711	31232711	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:31232711C>T	ENST00000255304.4	+	9	2839	c.2497C>T	c.(2497-2499)Cca>Tca	p.P833S		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	833					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AGCAGGCCCTCCATCGTCTAA	0.502000													14	97					0	0	0.004990	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559892	44559892	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:44559892C>G	ENST00000332567.4	-	1	2096	c.1744G>C	c.(1744-1746)Gac>Cac	p.D582H	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	582	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CGTAATTCGTCTGTCTCTCTA	0.517000													8	77					0	0	0.004482	0	0
SLIT3	6586	broad.mit.edu	37	5	168119694	168119694	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:168119694C>T	ENST00000519560.1	-	29	3513	c.3094G>A	c.(3094-3096)Gac>Aac	p.D1032N	SLIT3_ENST00000332966.8_Missense_Mutation_p.D1039N|SLIT3_ENST00000404867.3_Missense_Mutation_p.D1032N	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1032	EGF-like 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCACCTCGTCGCATAGCTCA	0.577000													15	36					0	0	0.004007	0	0
LSR	51599	broad.mit.edu	37	19	35758329	35758329	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:35758329G>A	ENST00000602122.1	+	8	2033	c.1546G>A	c.(1546-1548)Gac>Aac	p.D516N	LSR_ENST00000354900.3_Missense_Mutation_p.D517N|LSR_ENST00000427250.1_Missense_Mutation_p.D380N|LSR_ENST00000347609.4_Missense_Mutation_p.D478N|LSR_ENST00000360798.3_Missense_Mutation_p.D468N|LSR_ENST00000361790.3_Missense_Mutation_p.D536N			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	536					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CGACCTCTATGACCAAGACGA	0.687000													9	27					0	0	0.004482	0	0
GANC	2595	broad.mit.edu	37	15	42584941	42584941	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:42584941C>T	ENST00000318010.8	+	5	578	c.338C>T	c.(337-339)tCa>tTa	p.S113L	GANC_ENST00000566442.1_Missense_Mutation_p.S113L	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	113					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		AGGCTGATTTCATGCTCTGGG	0.413000													29	70					0	0	0.005443	0	0
OAZ2	4947	broad.mit.edu	37	15	64983649	64983649	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:64983649G>C	ENST00000326005.6	-	3	393	c.161C>G	c.(160-162)tCa>tGa	p.S54*	OAZ2_ENST00000560258.2_Nonsense_Mutation_p.S54*|OAZ2_ENST00000560837.1_5'UTR|OAZ2_ENST00000559753.1_Intron			O95190	OAZ2_HUMAN	ornithine decarboxylase antizyme 2	54					polyamine metabolic process|regulation of cellular amino acid metabolic process	cytosol|nucleus	ornithine decarboxylase inhibitor activity|protein binding									L-Ornithine(DB00129)	TATTAGAGCTGAGAGAGAAGG	0.572000													3	7					0	0	0.000248	0	0
FTH1	2495	broad.mit.edu	37	11	61732918	61732918	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:61732918C>G	ENST00000273550.7	-	2	418	c.184G>C	c.(184-186)Gag>Cag	p.E62Q	FTH1_ENST00000529631.1_Intron|FTH1_ENST00000532601.1_5'UTR|FTH1_ENST00000526640.1_Missense_Mutation_p.E32Q|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529191.1_Intron	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	62	Ferritin-like diiron.				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	TCCCTCTCCTCATGAGATTGG	0.443000													30	212					0	0	0.008361	0	0
PGRMC2	10424	broad.mit.edu	37	4	129193566	129193566	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:129193566C>G	ENST00000520121.1	-	2	1563	c.597G>C	c.(595-597)ttG>ttC	p.L199F	PGRMC2_ENST00000512483.1_5'UTR|PGRMC2_ENST00000503588.1_Missense_Mutation_p.L43F|PGRMC2_ENST00000394276.3_5'UTR|PGRMC2_ENST00000503872.1_5'UTR|PGRMC2_ENST00000296425.5_Missense_Mutation_p.L175F	NM_006320.4	NP_006311.2			progesterone receptor membrane component 2																		GTACTGCATTCAAATCTGAGA	0.353000													5	39					0	0	0.001984	0	0
TBC1D15	64786	broad.mit.edu	37	12	72316827	72316827	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:72316827C>T	ENST00000550746.1	+	18	1983	c.1919C>T	c.(1918-1920)tCa>tTa	p.S640L	TBC1D15_ENST00000319106.8_Missense_Mutation_p.S631L|TBC1D15_ENST00000485960.2_Missense_Mutation_p.S623L|TBC1D15_ENST00000393309.3_Missense_Mutation_p.S394L	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	640							protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACACCAGATTCAGACGTTGGT	0.428000													19	142					0	0	0.006122	0	0
GNA13	10672	broad.mit.edu	37	17	63052692	63052692	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:63052692G>A	ENST00000439174.2	-	1	265	c.20C>T	c.(19-21)tCg>tTg	p.S7L		NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	7					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						CACGGACCGCGACGGCAGGAA	0.731000													94	114					0	0	0.003610	0	0
COLEC11	78989	broad.mit.edu	37	2	3660949	3660949	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:3660949G>C	ENST00000403096.3	+	2	592	c.101G>C	c.(100-102)aGa>aCa	p.R34T	COLEC11_ENST00000349077.4_Missense_Mutation_p.R60T|COLEC11_ENST00000418971.2_Missense_Mutation_p.R74T|COLEC11_ENST00000402794.1_Intron|COLEC11_ENST00000236693.7_Missense_Mutation_p.E31Q|COLEC11_ENST00000382062.2_Missense_Mutation_p.R60T|COLEC11_ENST00000404205.1_Intron|COLEC11_ENST00000402922.1_Missense_Mutation_p.R34T|COLEC11_ENST00000487365.1_Intron	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	60						collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CGGCCTGGAAGAGTCGGCCCC	0.647000													4	17					0	0	0.000602	0	0
LPHN3	23284	broad.mit.edu	37	4	62542622	62542622	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:62542622C>T	ENST00000512091.2	+	5	1095	c.348C>T	c.(346-348)taC>taT	p.Y116Y	LPHN3_ENST00000506746.1_Silent_p.Y184Y|LPHN3_ENST00000507625.1_Silent_p.Y184Y|LPHN3_ENST00000507164.1_Silent_p.Y184Y|LPHN3_ENST00000508946.1_Silent_p.Y116Y|LPHN3_ENST00000514996.1_Silent_p.Y116Y|LPHN3_ENST00000511324.1_Silent_p.Y184Y|LPHN3_ENST00000506700.1_Silent_p.Y116Y|LPHN3_ENST00000514591.1_Silent_p.Y116Y|LPHN3_ENST00000508693.1_Silent_p.Y184Y|LPHN3_ENST00000514157.1_Silent_p.Y116Y|LPHN3_ENST00000545650.1_Silent_p.Y116Y|LPHN3_ENST00000506720.1_Silent_p.Y184Y|LPHN3_ENST00000504896.1_Silent_p.Y116Y|LPHN3_ENST00000509896.1_Silent_p.Y184Y			Q9HAR2	LPHN3_HUMAN	latrophilin 3		SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCTATAAATACCTTGAAGTGC	0.398000													12	274					0	0	0.001368	0	0
FAT1	2195	broad.mit.edu	37	4	187521209	187521209	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:187521209C>G	ENST00000441802.2	-	22	12155	c.11946G>C	c.(11944-11946)ttG>ttC	p.L3982F		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3982	Laminin G-like.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCTGCCCATTCAAATAAATGG	0.498000										HNSCC(5;0.00058)			60	114					0	0	0.003610	0	0
KHNYN	23351	broad.mit.edu	37	14	24901328	24901328	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:24901328C>G	ENST00000251343.5	+	3	1000	c.861C>G	c.(859-861)ctC>ctG	p.L287L	KHNYN_ENST00000553935.1_Silent_p.L287L|KHNYN_ENST00000556842.1_Silent_p.L287L			O15037	KHNYN_HUMAN	KH and NYN domain containing	287										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						AAGTGGCCCTCAGGCCACAGT	0.627000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	46					0	0	0.004482	0	0
GSAP	54103	broad.mit.edu	37	7	76984619	76984619	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:76984619G>A	ENST00000257626.7	-	16	1327	c.1249C>T	c.(1249-1251)Ctg>Ttg	p.L417L		NM_017439.3	NP_059135.2			gamma-secretase activating protein																		GTGTTCTGCAGAAGCTGTAAT	0.502000													42	122					0	0	0.006230	0	0
CSTF3	1479	broad.mit.edu	37	11	33108639	33108639	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:33108639C>A	ENST00000323959.4	-	18	1829	c.1690G>T	c.(1690-1692)Gct>Tct	p.A564S	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	564	Pro-rich.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						ATAGAAGGAGCTACAACTGGG	0.433000													11	337					1.5842e-08	2.15112e-08	0.001855	1	0
ZNF812	729648	broad.mit.edu	37	19	9801562	9801562	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:9801562G>A	ENST00000457674.2	-	5	1135	c.617C>T	c.(616-618)tCa>tTa	p.S206L	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTTTAGGTGTGAGGAATGAGT	0.373000													8	21					0	0	0.003080	0	0
DEPDC5	9681	broad.mit.edu	37	22	32188758	32188758	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:32188758C>G	ENST00000400246.1	+	12	864	c.722C>G	c.(721-723)tCa>tGa	p.S241*	DEPDC5_ENST00000400248.2_Nonsense_Mutation_p.S241*|DEPDC5_ENST00000382105.2_Nonsense_Mutation_p.S241*|DEPDC5_ENST00000266091.3_Nonsense_Mutation_p.S241*|DEPDC5_ENST00000400249.2_Nonsense_Mutation_p.S241*|DEPDC5_ENST00000382112.3_Nonsense_Mutation_p.S241*|DEPDC5_ENST00000536766.1_Nonsense_Mutation_p.S213*|DEPDC5_ENST00000535622.1_Nonsense_Mutation_p.S241*|DEPDC5_ENST00000400242.3_Nonsense_Mutation_p.S241*|DEPDC5_ENST00000382111.2_Nonsense_Mutation_p.S241*			O75140	DEPD5_HUMAN	DEP domain containing 5	241					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AACCGAGCCTCAATTCGACAG	0.363000													24	63					0	0	0.005443	0	0
SNX25	83891	broad.mit.edu	37	4	186244769	186244769	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:186244769G>C	ENST00000504273.1	+	9	1366	c.1072G>C	c.(1072-1074)Gaa>Caa	p.E358Q	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.E358Q			Q9H3E2	SNX25_HUMAN	sorting nexin 25	358	RGS.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		ACTTTACAAAGAAATTCAGCA	0.328000													20	31					0	0	0.008871	0	0
BMS1P20	96610	broad.mit.edu	37	22	22673515	22673515	+	RNA	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:22673515C>G	ENST00000426066.1	+	0	1209				IGLV5-52_ENST00000390289.2_RNA	NR_027293.1																						CTGCGTATCTCTGGGCTCCAG	0.522000													59	179					0	0	0.003610	0	0
ZNF687	57592	broad.mit.edu	37	1	151262619	151262619	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:151262619C>A	ENST00000368879.2	+	7	3084	c.2986C>A	c.(2986-2988)Cgc>Agc	p.R996S		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	996					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTTCCCCTGTCGCCTGTGTGA	0.592000													13	94					1.90571e-15	2.6634e-15	0.004289	1	0
HOXC11	3227	broad.mit.edu	37	12	54367563	54367563	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:54367563G>T	ENST00000546378.1	+	1	654	c.538G>T	c.(538-540)Gag>Tag	p.E180*	HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_Nonsense_Mutation_p.E180*			O43248	HXC11_HUMAN	homeobox C11	180					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						GGCCAAGGGGGAGCCCGAGGC	0.721000			T	NUP98	AML								8	33					0.000157383	0.000208475	0.003080	1	0
ATRX	546	broad.mit.edu	37	X	76888758	76888758	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:76888758G>C	ENST00000373344.5	-	19	5285	c.5071C>G	c.(5071-5073)Caa>Gaa	p.Q1691E	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.Q1653E	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1691	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTCCTTCCTTGAGCAAGATTT	0.393000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						168	127					0	0	0.003610	0	0
FRY	10129	broad.mit.edu	37	13	32811517	32811517	+	Splice_Site	SNP	T	T	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:32811517T>G	ENST00000380250.3	+	44	6308	c.5812T>G	c.(5812-5814)Tct>Gct	p.S1938A		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1938					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TATACCCAGCTCTTCCTCACC	0.453000													10	42					0	0	0.008291	0	0
NSD1	64324	broad.mit.edu	37	5	176637917	176637917	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:176637917G>A	ENST00000439151.2	+	5	2562	c.2517G>A	c.(2515-2517)ctG>ctA	p.L839L	NSD1_ENST00000354179.4_Silent_p.L570L|NSD1_ENST00000347982.4_Silent_p.L570L|NSD1_ENST00000361032.4_Silent_p.L736L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	839					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TAAAACTACTGAACAATATGC	0.408000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			16	52					0	0	0.004007	0	0
FAM13A	10144	broad.mit.edu	37	4	89709016	89709016	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:89709016G>T	ENST00000264344.5	-	10	1366	c.1159C>A	c.(1159-1161)Caa>Aaa	p.Q387K	FAM13A_ENST00000508369.1_Missense_Mutation_p.Q61K|FAM13A_ENST00000513837.1_Missense_Mutation_p.Q33K|FAM13A_ENST00000395002.2_Missense_Mutation_p.Q61K|FAM13A_ENST00000503556.1_Missense_Mutation_p.Q47K|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000502459.1_5'UTR	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	387					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TCTGAACTTTGACCTCCAGAG	0.463000													13	94					1.05317e-09	1.44455e-09	0.002450	1	0
ZNF687	57592	broad.mit.edu	37	1	151262637	151262637	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:151262637T>C	ENST00000368879.2	+	7	3102	c.3004T>C	c.(3004-3006)Ttc>Ctc	p.F1002L		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	1002					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGAGCGCTCCTTCTGCTCCGC	0.592000													13	96					0	0	0.003755	0	0
TMEM11	8834	broad.mit.edu	37	17	21102080	21102080	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:21102080C>G	ENST00000317635.5	-	2	607	c.136G>C	c.(136-138)Gag>Cag	p.E46Q	TMEM11_ENST00000584432.1_5'UTR	NM_003876.2	NP_003867.1	P17152	TMM11_HUMAN	transmembrane protein 11	46					mitochondrion organization	integral to mitochondrial inner membrane|integral to plasma membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						AGCTCGTACTCAAACTGGTCT	0.557000													14	45					0	0	0.002450	0	0
FTH1	2495	broad.mit.edu	37	11	61732561	61732561	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:61732561C>G	ENST00000273550.7	-	3	519	c.285G>C	c.(283-285)gaG>gaC	p.E95D	FTH1_ENST00000529631.1_Intron|FTH1_ENST00000532601.1_Missense_Mutation_p.E25D|FTH1_ENST00000526640.1_Missense_Mutation_p.E65D|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529191.1_Intron	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	95	Ferritin-like diiron.				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	TCAGCCCGCTCTCCCAGTCAT	0.448000													33	221					0	0	0.002836	0	0
RNF130	55819	broad.mit.edu	37	5	179390562	179390562	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:179390562C>T	ENST00000521389.1	-	8	1568	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	RNF130_ENST00000261947.4_Intron|RNF130_ENST00000522208.2_Intron	NM_018434.4	NP_060904.2	Q86XS8	GOLI_HUMAN	ring finger protein 130	385					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATAAACCATTCTTCTGTTGAC	0.448000													8	11					0	0	0.008291	0	0
MSL2	55167	broad.mit.edu	37	3	135913868	135913868	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:135913868C>T	ENST00000309993.2	-	1	820	c.88G>A	c.(88-90)Gag>Aag	p.E30K		NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	30					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						CTGTTAATCTCAGTAAACGCC	0.493000													99	160					0	0	0.003610	0	0
JUNB	3726	broad.mit.edu	37	19	12903392	12903392	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:12903392C>G	ENST00000302754.4	+	1	1083	c.807C>G	c.(805-807)atC>atG	p.I269M		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	269						chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						AAGAGCGCATCAAAGTGGAGC	0.682000													2	8					0	0	0.004672	0	0
PRSS54	221191	broad.mit.edu	37	16	58319877	58319877	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:58319877C>T	ENST00000219301.4	-	5	880	c.486G>A	c.(484-486)caG>caA	p.Q162Q	PRSS54_ENST00000543437.1_Silent_p.Q63Q|PRSS54_ENST00000567164.1_Silent_p.Q162Q	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	162	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CCCAGCAGTTCTGCAAGACTG	0.547000													28	77					0	0	0.005443	0	0
CPQ	10404	broad.mit.edu	37	8	98155285	98155285	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:98155285C>T	ENST00000220763.5	+	8	1503	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	431					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										AGTATTTCTTCTTCCATCACT	0.433000													16	37					0	0	0.004007	0	0
MSMO1	6307	broad.mit.edu	37	4	166258996	166258996	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:166258996A>T	ENST00000261507.6	+	3	484	c.311A>T	c.(310-312)aAt>aTt	p.N104I	MSMO1_ENST00000504317.1_Missense_Mutation_p.N104I|MSMO1_ENST00000393766.2_5'UTR	NM_006745.4	NP_006736.1	Q15800	ERG25_HUMAN	methylsterol monooxygenase 1	104					cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding									NADH(DB00157)	CTTCTCTTTAATCACTTCTGT	0.353000													21	48					0	0	0.001523	0	0
TACC2	10579	broad.mit.edu	37	10	123844900	123844900	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:123844900C>G	ENST00000369005.1	+	4	3225	c.2885C>G	c.(2884-2886)tCg>tGg	p.S962W	TACC2_ENST00000334433.3_Missense_Mutation_p.S962W|TACC2_ENST00000515273.1_Missense_Mutation_p.S962W|TACC2_ENST00000515603.1_Missense_Mutation_p.S962W|TACC2_ENST00000453444.2_Missense_Mutation_p.S962W|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	962						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCGAGGGTCTCGCCTCCAGCA	0.537000													34	78					0	0	0.002836	0	0
TYK2	7297	broad.mit.edu	37	19	10461569	10461569	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:10461569G>A	ENST00000525621.1	-	25	3986	c.3505C>T	c.(3505-3507)Ctg>Ttg	p.L1169L	TYK2_ENST00000524462.1_Silent_p.L984L|TYK2_ENST00000529422.1_5'UTR|TYK2_ENST00000264818.6_Silent_p.L1169L	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1169	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			ACTGTCTTCAGAATGGGTATG	0.557000													23	80					0	0	0.002780	0	0
TCOF1	6949	broad.mit.edu	37	5	149748414	149748414	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:149748414G>A	ENST00000451292.1	+	5	622	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	TCOF1_ENST00000439160.2_Missense_Mutation_p.E172K|TCOF1_ENST00000394269.3_Missense_Mutation_p.E172K|TCOF1_ENST00000377797.3_Missense_Mutation_p.E172K|TCOF1_ENST00000323668.7_Missense_Mutation_p.E172K|TCOF1_ENST00000504761.2_Missense_Mutation_p.E172K|TCOF1_ENST00000513346.1_Missense_Mutation_p.E172K|TCOF1_ENST00000445265.2_Missense_Mutation_p.E172K			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	172					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTGGTCTCAGAAACTGAGGA	0.582000													21	54					0	0	0.001882	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554506	140554506	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140554506C>T	ENST00000231137.3	+	1	2264	c.2090C>T	c.(2089-2091)tCg>tTg	p.S697L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		697					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGGTGTCTTCGCTCTTCCTC	0.706000													35	375					0	0	0.003755	0	0
CDH5	1003	broad.mit.edu	37	16	66426236	66426236	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:66426236G>C	ENST00000341529.3	+	7	1315	c.1167G>C	c.(1165-1167)ctG>ctC	p.L389L	CDH5_ENST00000563425.2_Silent_p.L389L	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	389	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		AGAAGCCTCTGATTGGCACAG	0.537000													41	120					0	0	0.006999	0	0
ESYT3	83850	broad.mit.edu	37	3	138195290	138195290	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:138195290G>A	ENST00000389567.4	+	22	2766	c.2580G>A	c.(2578-2580)ctG>ctA	p.L860L	ESYT3_ENST00000460133.1_3'UTR	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	860	C2 3.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						TTTAGGTACTGATTGACTTAT	0.353000													4	55					0	0	0.001168	0	0
TIMELESS	8914	broad.mit.edu	37	12	56822358	56822358	+	Silent	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:56822358C>A	ENST00000229201.4	-	12	1534	c.1380G>T	c.(1378-1380)gtG>gtT	p.V460V	TIMELESS_ENST00000553532.1_Silent_p.V461V|TIMELESS_ENST00000554616.1_Intron	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	461					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TGCTCTCCCTCACAGCCTCAT	0.562000													12	42					0.00136819	0.00180646	0.001368	1	0
PDZD2	23037	broad.mit.edu	37	5	32087406	32087406	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:32087406C>T	ENST00000438447.1	+	20	4240	c.3852C>T	c.(3850-3852)ctC>ctT	p.L1284L	PDZD2_ENST00000282493.3_Silent_p.L1284L			O15018	PDZD2_HUMAN	PDZ domain containing 2	1284					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CAGTCAGGCTCCCCCATGAGG	0.622000													34	100					0	0	0.004878	0	0
IHH	3549	broad.mit.edu	37	2	219920403	219920403	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:219920403C>T	ENST00000295731.6	-	3	761	c.762G>A	c.(760-762)ctG>ctA	p.L254L		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog						cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAAGGCTCTCAGCCTGTGAG	0.652000													20	25					0	0	0.007413	0	0
DDX55	57696	broad.mit.edu	37	12	124104529	124104529	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:124104529G>C	ENST00000238146.4	+	14	1695	c.1645G>C	c.(1645-1647)Gag>Cag	p.E549Q	DDX55_ENST00000421670.3_Missense_Mutation_p.E156Q|DDX55_ENST00000538744.1_Missense_Mutation_p.E518Q	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	549	Lys-rich.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		TATTGAAGATGAGGACATGGA	0.348000													19	73					0	0	0.008871	0	0
DNAH5	1767	broad.mit.edu	37	5	13862845	13862845	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:13862845G>A	ENST00000265104.4	-	29	4712	c.4608C>T	c.(4606-4608)atC>atT	p.I1536I	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1536	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)					TCACCGCACTGATACAGATGT	0.413000									Kartagener syndrome				26	96					0	0	0.007291	0	0
PBRM1	55193	broad.mit.edu	37	3	52643561	52643561	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:52643561G>C	ENST00000356770.4	-	15	2241	c.2239C>G	c.(2239-2241)Caa>Gaa	p.Q747E	PBRM1_ENST00000409114.3_Missense_Mutation_p.Q794E|PBRM1_ENST00000409057.1_Missense_Mutation_p.Q779E|PBRM1_ENST00000296302.7_Missense_Mutation_p.Q779E|PBRM1_ENST00000409767.1_Missense_Mutation_p.Q794E|PBRM1_ENST00000410007.1_Missense_Mutation_p.Q779E|PBRM1_ENST00000337303.4_Missense_Mutation_p.Q779E|PBRM1_ENST00000394830.3_Missense_Mutation_p.Q779E			Q86U86	PB1_HUMAN	polybromo 1	779					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.Q779*(5)|p.Q747*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATAAGCTCTTGAATCAGCAAA	0.448000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								36	43					0	0	0.003755	0	0
NOL6	65083	broad.mit.edu	37	9	33467733	33467733	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:33467733C>T	ENST00000379471.2	-	12	1645	c.1558G>A	c.(1558-1560)Gct>Act	p.A520T	NOL6_ENST00000455041.2_Missense_Mutation_p.A468T|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	520					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TTCAGCCGAGCCCCCAGGCCC	0.647000													4	37					0	0	0.000602	0	0
NRD1	4898	broad.mit.edu	37	1	52283797	52283797	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:52283797G>C	ENST00000354831.7	-	12	1695	c.1506C>G	c.(1504-1506)atC>atG	p.I502M	NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Missense_Mutation_p.I434M|NRD1_ENST00000544028.1_Missense_Mutation_p.I302M|NRD1_ENST00000539524.1_Missense_Mutation_p.I370M	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	433					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						GAATTTTTCTGATTGGAACAA	0.323000													6	31					0	0	0.003080	0	0
ABCA13	154664	broad.mit.edu	37	7	48559842	48559842	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:48559842T>G	ENST00000435803.1	+	53	14027	c.14003T>G	c.(14002-14004)cTt>cGt	p.L4668R	ABCA13_ENST00000544596.1_Missense_Mutation_p.L398R	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4668					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						GGCACAGTACTTCTCCTCTTG	0.527000													5	43					0	0	0.000602	0	0
SLC30A7	148867	broad.mit.edu	37	1	101387384	101387384	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:101387384C>G	ENST00000370112.4	+	8	1016	c.829C>G	c.(829-831)Ctt>Gtt	p.L277V	SLC30A7_ENST00000357650.4_Missense_Mutation_p.L277V	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	277					zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		TATAGCCATTCTTATAGTTGT	0.303000													13	80					0	0	0.001855	0	0
MKI67	4288	broad.mit.edu	37	10	129904445	129904445	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:129904445C>G	ENST00000368654.3	-	13	6034	c.5659G>C	c.(5659-5661)Gag>Cag	p.E1887Q	MKI67_ENST00000368653.3_Missense_Mutation_p.E1527Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1887	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AATTCTTCCTCTACGTCTGCT	0.458000													42	346					0	0	0.008740	0	0
KLHDC1	122773	broad.mit.edu	37	14	50175883	50175883	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:50175883G>T	ENST00000359332.2	+	2	193	c.103G>T	c.(103-105)Gaa>Taa	p.E35*		NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	35						cytoplasm				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					TTAGTCTATTGAAGACAATGA	0.289000													13	74					9.31168e-06	1.2477e-05	0.001855	1	0
NPDC1	56654	broad.mit.edu	37	9	139937506	139937506	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:139937506C>T	ENST00000371600.3	-	1	1038	c.366G>A	c.(364-366)ggG>ggA	p.G122G	NPDC1_ENST00000371601.4_Silent_p.G44G|NPDC1_ENST00000488145.1_5'UTR			Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1	44						integral to membrane				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		AGTCCAGGCTCCCGGGACAGG	0.697000													4	23					0	0	0.001168	0	0
CHD9	80205	broad.mit.edu	37	16	53338321	53338321	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:53338321G>C	ENST00000566029.1	+	31	6612	c.6403G>C	c.(6403-6405)Gac>Cac	p.D2135H	CHD9_ENST00000447540.1_Missense_Mutation_p.D2135H|CHD9_ENST00000398510.3_Missense_Mutation_p.D2135H|CHD9_ENST00000564845.1_Missense_Mutation_p.D2135H			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2135	Ser-rich.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TTCTGATTCTGACTCAGATTC	0.458000													6	20					0	0	0.001984	0	0
CACNG6	59285	broad.mit.edu	37	19	54496189	54496189	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:54496189C>T	ENST00000252729.2	+	1	648	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	CACNG6_ENST00000352529.1_Missense_Mutation_p.R20W|CACNG6_ENST00000346968.2_Missense_Mutation_p.R20W	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	20						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		ggccgcgggccggcggcgggc	0.746000													4	31					0	0	0.000248	0	0
POLR2F	5435	broad.mit.edu	37	22	38437091	38437091	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:38437091G>C	ENST00000407936.1	+	6	560	c.469G>C	c.(469-471)Gag>Cag	p.E157Q	POLR2F_ENST00000608713.1_3'UTR			P61218	RPAB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide F	0					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity			breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					gcggctcagagaggagtgact	0.532000													52	181					0	0	0.003610	0	0
NUP188	23511	broad.mit.edu	37	9	131768878	131768878	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:131768878C>G	ENST00000372577.2	+	44	5192	c.5171C>G	c.(5170-5172)tCt>tGt	p.S1724C		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1724					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						AAGTCCACCTCTCTCTCCAAA	0.637000											OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	45					0	0	0.003214	0	0
TRBV29-1	28558	broad.mit.edu	37	7	142448602	142448602	+	RNA	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:142448602C>T	ENST00000422143.2	+	0	263																											AACTGCAAATCAGGGCTCTGA	0.502000													18	38					0	0	0.004990	0	0
MCCC1	56922	broad.mit.edu	37	3	182763328	182763328	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:182763328C>T	ENST00000492597.1	-	9	1331	c.629G>A	c.(628-630)gGg>gAg	p.G210E	MCCC1_ENST00000539926.1_Splice_Site_p.G184E|MCCC1_ENST00000265594.4_Splice_Site_p.G319E			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	319	ATP-grasp.|Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CTCCACAGTCCCTAAAAGGTA	0.363000													13	54					0	0	0.001368	0	0
TDRD6	221400	broad.mit.edu	37	6	46665740	46665740	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:46665740G>C	ENST00000316081.6	+	3	6177	c.6177G>C	c.(6175-6177)ttG>ttC	p.L2059F	TDRD6_ENST00000544460.1_Intron	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	2059	Tudor 8.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGTAGGTTTTGAACCTTTCAA	0.318000													28	135					0	0	0.002096	0	0
OR4D11	219986	broad.mit.edu	37	11	59271544	59271544	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:59271544C>T	ENST00000313253.1	+	1	496	c.496C>T	c.(496-498)Ctc>Ttc	p.L166F		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						GTTGCTGCCTCTCCCTTTCTG	0.517000													54	172					0	0	0.003610	0	0
METTL7A	25840	broad.mit.edu	37	12	51323733	51323733	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:51323733G>C	ENST00000548553.1	+	3	1516	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	METTL7A_ENST00000332160.4_Missense_Mutation_p.E179Q			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	179						endoplasmic reticulum|lipid particle|membrane	methyltransferase activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						TGTGGCAGCTGAGTGTTCGAC	0.428000													56	188					0	0	0.003610	0	0
IFT122	55764	broad.mit.edu	37	3	129214429	129214429	+	Silent	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:129214429C>A	ENST00000296266.3	+	19	2532	c.2340C>A	c.(2338-2340)ctC>ctA	p.L780L	IFT122_ENST00000349441.2_Silent_p.L618L|IFT122_ENST00000504021.1_Silent_p.L605L|IFT122_ENST00000507564.1_Silent_p.L721L|IFT122_ENST00000348417.2_Silent_p.L729L|IFT122_ENST00000431818.2_Silent_p.L579L|IFT122_ENST00000440957.2_Silent_p.L520L|IFT122_ENST00000347300.2_Silent_p.L670L|IFT122_ENST00000513932.1_3'UTR	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	729					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ACACCGACCTCTGCATGTTTG	0.537000													20	48					2.27731e-05	3.0389e-05	0.001882	1	0
PLXND1	23129	broad.mit.edu	37	3	129290635	129290635	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:129290635G>C	ENST00000393239.1	-	16	3308	c.3130C>G	c.(3130-3132)Ccg>Gcg	p.P1044A	PLXND1_ENST00000324093.4_Missense_Mutation_p.P1044A			Q9Y4D7	PLXD1_HUMAN	plexin D1	1044	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						ACAGGCACCGGAGCCGGCAGG	0.662000													5	27					0	0	0.000602	0	0
SI	6476	broad.mit.edu	37	3	164735823	164735823	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:164735823T>C	ENST00000264382.3	-	29	3517	c.3455A>G	c.(3454-3456)tAt>tGt	p.Y1152C		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1152	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AGCCATGTAATAGGGATGAAA	0.313000										HNSCC(35;0.089)			7	64					0	0	0.004482	0	0
PCDHA10	56139	broad.mit.edu	37	5	140236081	140236081	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140236081C>G	ENST00000307360.5	+	1	448	c.448C>G	c.(448-450)Cga>Gga	p.R150G	PCDHA10_ENST00000506939.2_Missense_Mutation_p.R150G|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018901.2	NP_061724.1												p.R150*(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTGACTCTCGATTTCCACT	0.438000													66	130					0	0	0.003610	0	0
TRHDE	29953	broad.mit.edu	37	12	72666690	72666690	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:72666690C>T	ENST00000261180.4	+	1	228	c.132C>T	c.(130-132)ttC>ttT	p.F44F	TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	44					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGCTGGCCTTCGCTGTGTCCC	0.692000													8	10					0	0	0.008291	0	0
FBXO34	55030	broad.mit.edu	37	14	55817300	55817300	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:55817300C>G	ENST00000313833.4	+	2	437	c.192C>G	c.(190-192)atC>atG	p.I64M	FBXO34_ENST00000555087.1_3'UTR|FBXO34_ENST00000440021.1_Missense_Mutation_p.I64M	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	64										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CATTTGGGATCCTTTCTCCAA	0.438000													54	109					0	0	0.003610	0	0
N4BP1	9683	broad.mit.edu	37	16	48595368	48595368	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:48595368C>G	ENST00000262384.3	-	2	1422	c.1186G>C	c.(1186-1188)Gaa>Caa	p.E396Q	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	396					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				GCTGAAAATTCTCTGTCTTCT	0.348000													23	47					0	0	0.002299	0	0
C20orf85	128602	broad.mit.edu	37	20	56728648	56728648	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:56728648G>C	ENST00000371168.3	+	2	178	c.117G>C	c.(115-117)caG>caC	p.Q39H		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	39										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			ACTGGCCCCAGAACTGGGGGT	0.433000													28	91					0	0	0.007291	0	0
CASD1	64921	broad.mit.edu	37	7	94166908	94166908	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:94166908C>G	ENST00000297273.4	+	9	1255	c.968C>G	c.(967-969)tCt>tGt	p.S323C		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	323						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TTCACTTTATCTATTATCGGA	0.358000													27	92					0	0	0.003954	0	0
BDP1	55814	broad.mit.edu	37	5	70751838	70751838	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:70751838C>T	ENST00000358731.4	+	1	397	c.134C>T	c.(133-135)tCc>tTc	p.S45F	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	45	Interaction with ZBTB43.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GACTCTGCTTCCAAGCCCGCG	0.632000													12	34					0	0	0.002450	0	0
CAPN11	11131	broad.mit.edu	37	6	44148506	44148506	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:44148506G>A	ENST00000398776.1	+	17	1806	c.1768G>A	c.(1768-1770)Gag>Aag	p.E590K	CAPN11_ENST00000542245.1_Missense_Mutation_p.E590K	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	590	Domain IV.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGGGGTGTATGAGCTCCAGAG	0.602000													12	46					0	0	0.002450	0	0
KLHL6	89857	broad.mit.edu	37	3	183225916	183225916	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:183225916G>A	ENST00000341319.3	-	3	875	c.840C>T	c.(838-840)ctC>ctT	p.L280L		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	280										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			ACTGCCTGATGAGAGGATCTG	0.527000													28	66					0	0	0.005443	0	0
SEMA4C	54910	broad.mit.edu	37	2	97529515	97529515	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:97529515G>C	ENST00000305476.5	-	12	1479	c.1347C>G	c.(1345-1347)ctC>ctG	p.L449L		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	449	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						TCACAGCCTTGAGCAGCCAGC	0.617000													4	49					0	0	0.000602	0	0
TENM4	26011	broad.mit.edu	37	11	78369325	78369325	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:78369325C>G	ENST00000278550.7	-	34	8550	c.8088G>C	c.(8086-8088)caG>caC	p.Q2696H		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GCACGGCTCTCTGCCGGGCCA	0.657000													10	21					0	0	0.008291	0	0
TNXB	7148	broad.mit.edu	37	6	32026081	32026081	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:32026081C>T	ENST00000375244.3	-	22	7780	c.7579G>A	c.(7579-7581)Gag>Aag	p.E2527K	TNXB_ENST00000375247.2_Missense_Mutation_p.E2527K			P22105	TENX_HUMAN	tenascin XB	2587	Fibronectin type-III 17.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACTGTCAGCTCCCCCAGGAGA	0.627000													8	32					0	0	0.003080	0	0
IGFLR1	79713	broad.mit.edu	37	19	36230990	36230990	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:36230990C>T	ENST00000589807.1	-	10	1171		c.e10-1		IGFLR1_ENST00000588992.1_Intron|IGFLR1_ENST00000592889.1_Intron|IGFLR1_ENST00000587101.1_Splice_Site|IGFLR1_ENST00000344990.3_Intron|IGFLR1_ENST00000246532.1_Splice_Site|IGFLR1_ENST00000592537.1_Splice_Site																							GGACCGGCCTCTGGGGATAAG	0.607000													4	46					0	0	0.000602	0	0
IRX5	10265	broad.mit.edu	37	16	54967645	54967645	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:54967645C>T	ENST00000394636.4	+	3	1649	c.1312C>T	c.(1312-1314)Cat>Tat	p.H438Y	IRX5_ENST00000320990.5_Missense_Mutation_p.H437Y|IRX5_ENST00000560154.1_Missense_Mutation_p.H218Y|IRX5_ENST00000558597.1_Missense_Mutation_p.H372Y			P78411	IRX5_HUMAN	iroquois homeobox 5	438					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						TCCGGGGTCTCATTTCAATGG	0.592000													31	88					0	0	0.008361	0	0
SIRT5	23408	broad.mit.edu	37	6	13592071	13592071	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:13592071G>A	ENST00000606117.1	+	5	716	c.420G>A	c.(418-420)caG>caA	p.Q140Q	SIRT5_ENST00000379262.4_Silent_p.Q140Q|SIRT5_ENST00000359782.3_Silent_p.Q140Q|SIRT5_ENST00000397350.2_Silent_p.Q32Q	NM_012241.4	NP_036373.1	Q9NXA8	SIRT5_HUMAN	sirtuin 5	140	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	TCATCACCCAGAACATCGATG	0.617000													12	46					0	0	0.001855	0	0
CIC	23152	broad.mit.edu	37	19	42791575	42791575	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:42791575G>C	ENST00000572681.2	+	5	3351	c.3283G>C	c.(3283-3285)Gag>Cag	p.E1095Q	CIC_ENST00000160740.3_Missense_Mutation_p.E186Q|CIC_ENST00000575354.2_Missense_Mutation_p.E186Q			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	186	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTCATCTTCTGAGAAGGATGG	0.597000			"""Mis, F, S"""		oligodendroglioma								26	154					0	0	0.006320	0	0
CYYR1	116159	broad.mit.edu	37	21	27945285	27945285	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr21:27945285G>T	ENST00000435845.2	-	1	318	c.299C>A	c.(298-300)gCt>gAt	p.A100D	CYYR1_ENST00000400043.3_5'UTR|CYYR1_ENST00000299340.4_5'UTR			Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	141						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GAGGCTTGGAGCGAAGGGAGA	0.647000													5	35					0.00198382	0.00261291	0.001984	1	0
MRPS15	64960	broad.mit.edu	37	1	36927747	36927747	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:36927747C>T	ENST00000373116.5	-	3	354	c.193G>A	c.(193-195)Gat>Aat	p.D65N		NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	65				GGGSAKFPFNQWGLQPRSLLLQAARGYVVRKPAQSRLDDDP PPSTLLKDYQNV -> AVGAPSFLSTSGACSLEVSSSRPRA DMSSGNQPSLGWMMTHLLLRCSKTTRMS (in Ref. 2; AAG44697).	translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGTGGGTCATCATCCAGCCTA	0.537000													31	39					0	0	0.002096	0	0
PGRMC2	10424	broad.mit.edu	37	4	129193594	129193594	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:129193594C>G	ENST00000520121.1	-	2	1535	c.569G>C	c.(568-570)aGa>aCa	p.R190T	PGRMC2_ENST00000512483.1_5'UTR|PGRMC2_ENST00000503588.1_Missense_Mutation_p.R34T|PGRMC2_ENST00000394276.3_5'UTR|PGRMC2_ENST00000503872.1_5'UTR|PGRMC2_ENST00000296425.5_Missense_Mutation_p.R166T	NM_006320.4	NP_006311.2			progesterone receptor membrane component 2																		ATATTCATCTCTAAGTGCATC	0.373000													5	33					0	0	0.001168	0	0
LRRCC1	85444	broad.mit.edu	37	8	86022358	86022358	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:86022358G>A	ENST00000414626.2	+	2	1148	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	LRRCC1_ENST00000360375.3_Missense_Mutation_p.E107K			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	107					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						aGGACTTGAAGAACTAATTAA	0.249000													9	52					0	0	0.008291	0	0
KIAA0430	9665	broad.mit.edu	37	16	15718772	15718772	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:15718772G>C	ENST00000396368.3	-	10	2330	c.2124C>G	c.(2122-2124)ctC>ctG	p.L708L	KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000551742.1_Silent_p.L707L|KIAA0430_ENST00000540441.2_Silent_p.L565L|KIAA0430_ENST00000548025.1_Silent_p.L705L|KIAA0430_ENST00000602337.1_Silent_p.L705L	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	707						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TTCGGGCACTGAGGTTCTCCT	0.408000													32	66					0	0	0.002445	0	0
FAT1	2195	broad.mit.edu	37	4	187531098	187531098	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:187531098C>T	ENST00000441802.2	-	15	10134	c.9925G>A	c.(9925-9927)Gat>Aat	p.D3309N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3309	Cadherin 30.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTGCCTCCATCAGTGGCCTCT	0.443000										HNSCC(5;0.00058)			10	43					0	0	0.008291	0	0
GPRC6A	222545	broad.mit.edu	37	6	117127555	117127555	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:117127555G>A	ENST00000310357.3	-	3	1334	c.1313C>T	c.(1312-1314)cCc>cTc	p.P438L	GPRC6A_ENST00000368549.3_Missense_Mutation_p.P438L|GPRC6A_ENST00000530250.1_Intron	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	438					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AAAGGCGTTGGGGTTCTGACA	0.448000													12	50					0	0	0.000978	0	0
LAMB1	3912	broad.mit.edu	37	7	107594078	107594078	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:107594078C>A	ENST00000393561.1	-	20	3232	c.3048G>T	c.(3046-3048)aaG>aaT	p.K1016N	LAMB1_ENST00000222399.6_Missense_Mutation_p.K992N			P07942	LAMB1_HUMAN	laminin, beta 1	992	Laminin EGF-like 10.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCCAGTCTCCTTGTCACAGG	0.542000													6	149					0.00307968	0.00404644	0.003080	1	0
UTP14A	10813	broad.mit.edu	37	X	129058892	129058892	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:129058892G>C	ENST00000394422.3	+	12	1498	c.1470G>C	c.(1468-1470)gaG>gaC	p.E490D	UTP14A_ENST00000425117.2_Missense_Mutation_p.E438D|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Missense_Mutation_p.E436D|UTP14A_ENST00000371042.3_Missense_Mutation_p.E322D	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	490					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TCCAGAGAGAGGAACCTGCCC	0.478000													35	99					0	0	0.005524	0	0
CARD10	29775	broad.mit.edu	37	22	37902202	37902202	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:37902202G>C	ENST00000403299.1	-	8	1596	c.1380C>G	c.(1378-1380)ctC>ctG	p.L460L	CARD10_ENST00000251973.5_Silent_p.L460L|CARD10_ENST00000406271.3_Silent_p.L174L			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	460					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CGCTCACCTTGAGGCAGGTGC	0.672000													14	30					0	0	0.007413	0	0
HYAL2	8692	broad.mit.edu	37	3	50357236	50357236	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:50357236C>T	ENST00000447092.1	-	1	2977	c.685G>A	c.(685-687)Gat>Aat	p.D229N	HYAL2_ENST00000357750.4_Missense_Mutation_p.D229N|HYAL2_ENST00000395139.3_Missense_Mutation_p.D229N|HYAL2_ENST00000442581.1_Missense_Mutation_p.D229N			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	229						anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	ACCTCAACATCAGGGCAGCGG	0.612000													17	32					0	0	0.004007	0	0
ITSN1	6453	broad.mit.edu	37	21	35183344	35183344	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr21:35183344G>A	ENST00000381318.3	+	21	2673	c.2385G>A	c.(2383-2385)tgG>tgA	p.W795*	ITSN1_ENST00000399353.1_Nonsense_Mutation_p.W753*|ITSN1_ENST00000399338.4_Nonsense_Mutation_p.W790*|ITSN1_ENST00000399326.3_Nonsense_Mutation_p.W790*|ITSN1_ENST00000381285.4_Nonsense_Mutation_p.W795*|ITSN1_ENST00000399367.3_Nonsense_Mutation_p.W790*|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Nonsense_Mutation_p.W790*|ITSN1_ENST00000381291.4_Nonsense_Mutation_p.W795*|ITSN1_ENST00000379960.5_Nonsense_Mutation_p.W790*|ITSN1_ENST00000399355.2_Nonsense_Mutation_p.W795*|ITSN1_ENST00000399352.1_Nonsense_Mutation_p.W790*|ITSN1_ENST00000399349.1_Nonsense_Mutation_p.W790*	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	795	SH3 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGACAGGGTGGTTCCCTGCAA	0.483000													21	150					0	0	0.008871	0	0
ZNF791	163049	broad.mit.edu	37	19	12739289	12739289	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:12739289C>G	ENST00000343325.4	+	4	1108	c.946C>G	c.(946-948)Caa>Gaa	p.Q316E	ZNF791_ENST00000458122.3_Missense_Mutation_p.Q284E|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_Missense_Mutation_p.Q207E|ZNF791_ENST00000446165.1_3'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						CACCTCCATTCAAATTCATGA	0.393000													11	54					0	0	0.001855	0	0
TFAM	7019	broad.mit.edu	37	10	60145995	60145995	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:60145995G>A	ENST00000487519.1	+	2	643	c.117G>A	c.(115-117)ccG>ccA	p.P39P	TFAM_ENST00000373895.3_Silent_p.P39P|TFAM_ENST00000373899.3_3'UTR	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	39					DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						TGTATTTACCGAGGTGGTTTT	0.338000													27	70					0	0	0.007291	0	0
ELF3	1999	broad.mit.edu	37	1	201981809	201981809	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:201981809C>T	ENST00000359651.3	+	4	3712	c.520C>T	c.(520-522)Cag>Tag	p.Q174*	ELF3_ENST00000367283.3_Nonsense_Mutation_p.Q174*|ELF3_ENST00000367284.5_Nonsense_Mutation_p.Q174*|RP11-510N19.5_ENST00000504773.1_RNA			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	174					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GGACGACGGTCAGCAAGCCAG	0.667000													16	77					0	0	0.004007	0	0
DGKZ	8525	broad.mit.edu	37	11	46397143	46397143	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:46397143G>A	ENST00000454345.1	+	21	2561	c.2436G>A	c.(2434-2436)caG>caA	p.Q812Q	DGKZ_ENST00000318201.8_Silent_p.Q601Q|DGKZ_ENST00000532868.2_Silent_p.Q628Q|DGKZ_ENST00000421244.2_Silent_p.Q624Q|DGKZ_ENST00000395574.3_Silent_p.Q590Q|DGKZ_ENST00000528615.1_Silent_p.Q402Q|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000456247.2_Silent_p.Q623Q|DGKZ_ENST00000527911.1_Silent_p.Q624Q|DGKZ_ENST00000343674.6_Silent_p.Q640Q	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	812					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCATGGTGCAGAAGGCCAAGC	0.692000													5	12					0	0	0.004482	0	0
TNRC6A	27327	broad.mit.edu	37	16	24801938	24801938	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:24801938C>G	ENST00000395799.3	+	6	2104	c.1975C>G	c.(1975-1977)Caa>Gaa	p.Q659E	TNRC6A_ENST00000315183.7_Missense_Mutation_p.Q659E	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	659	Sufficient for interaction with EIF2C1 and EIF2C4.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GACAAATGAGCAAAGCAGTGT	0.468000													19	52					0	0	0.006122	0	0
GOLGA3	2802	broad.mit.edu	37	12	133381374	133381374	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:133381374C>T	ENST00000204726.3	-	7	2083	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	GOLGA3_ENST00000545875.1_Missense_Mutation_p.E509K|GOLGA3_ENST00000450791.2_Missense_Mutation_p.E509K|GOLGA3_ENST00000537452.1_Missense_Mutation_p.E509K|GOLGA3_ENST00000456883.2_Missense_Mutation_p.E509K	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	509					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TACTGCTCCTCGGCCACCTGC	0.607000													28	66					0	0	0.006320	0	0
GRIK1	2897	broad.mit.edu	37	21	30927614	30927614	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr21:30927614T>C	ENST00000399914.1	-	15	2842	c.2321A>G	c.(2320-2322)tAc>tGc	p.Y774C	GRIK1_ENST00000535441.1_Missense_Mutation_p.Y791C|GRIK1_ENST00000399907.1_Missense_Mutation_p.Y789C|GRIK1_ENST00000399913.1_Missense_Mutation_p.Y789C|GRIK1_ENST00000399909.1_Missense_Mutation_p.Y774C|GRIK1_ENST00000389125.3_Missense_Mutation_p.Y774C|GRIK1_ENST00000327783.4_Missense_Mutation_p.Y789C|GRIK1_ENST00000389124.2_Missense_Mutation_p.Y789C|GRIK1_ENST00000309434.7_Missense_Mutation_p.Y791C			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	789					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TTTATCCCGGTAAGGAGAACC	0.403000													18	93					0	0	0.006122	0	0
C12orf71	728858	broad.mit.edu	37	12	27235150	27235150	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:27235150G>T	ENST00000429849.2	-	1	297	c.267C>A	c.(265-267)ttC>ttA	p.F89L		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	89										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						CCCAGGCCAGGAAGATGCTTA	0.483000													7	52					0.00307968	0.00404644	0.003080	1	0
NFASC	23114	broad.mit.edu	37	1	204942505	204942505	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:204942505G>A	ENST00000367172.4	+	12	1565	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	NFASC_ENST00000404907.1_Missense_Mutation_p.E424K|NFASC_ENST00000367171.4_Missense_Mutation_p.E413K|NFASC_ENST00000539706.1_Missense_Mutation_p.E424K|NFASC_ENST00000513543.1_Missense_Mutation_p.E424K|NFASC_ENST00000367169.4_Missense_Mutation_p.E413K|NFASC_ENST00000401399.1_Missense_Mutation_p.E413K|NFASC_ENST00000403080.1_Missense_Mutation_p.E413K|NFASC_ENST00000339876.6_Missense_Mutation_p.E413K|NFASC_ENST00000360049.4_Missense_Mutation_p.E424K|NFASC_ENST00000338586.6_Missense_Mutation_p.E413K|NFASC_ENST00000404076.1_Missense_Mutation_p.E407K|NFASC_ENST00000338515.6_Missense_Mutation_p.E413K|NFASC_ENST00000367170.4_Missense_Mutation_p.E413K			O94856	NFASC_HUMAN	neurofascin	413	Ig-like C2-type 4.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CACCTCCAACGAGCATGGCTA	0.607000													16	37					0	0	0.004007	0	0
HCG17	414778	broad.mit.edu	37	6	30228356	30228356	+	RNA	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:30228356G>A	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA																							GACACCTGGAGAACGGGAAGG	0.627000													11	38					0	0	0.008291	0	0
TAOK1	57551	broad.mit.edu	37	17	27861196	27861196	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:27861196G>A	ENST00000261716.3	+	19	2941	c.2422G>A	c.(2422-2424)Gaa>Aaa	p.E808K	TAOK1_ENST00000536202.1_Missense_Mutation_p.E660K	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	808					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			GCTGCAGCAGGAACTGGAGCT	0.488000													58	43					0	0	0.003610	0	0
FCGRT	2217	broad.mit.edu	37	19	50029338	50029338	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:50029338G>A	ENST00000221466.5	+	7	1546	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N	FCGRT_ENST00000599988.1_Missense_Mutation_p.D88N|FCGRT_ENST00000426395.3_Missense_Mutation_p.D354N|FCGRT_ENST00000596975.1_Missense_Mutation_p.D262N	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	354					antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		CCAGGATGCTGATTTGAAGGA	0.577000													33	311					0	0	0.003755	0	0
NFATC2	4773	broad.mit.edu	37	20	50140246	50140246	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:50140246G>T	ENST00000371564.3	-	2	753	c.534C>A	c.(532-534)ttC>ttA	p.F178L	NFATC2_ENST00000396009.3_Missense_Mutation_p.F178L|NFATC2_ENST00000414705.1_Missense_Mutation_p.F158L|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000609943.1_Missense_Mutation_p.F158L|NFATC2_ENST00000610033.1_Intron	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	178	Trans-activation domain A (TAD-A).				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TGTCAGAAATGAAGCTGGCAG	0.647000													18	57					6.94344e-10	9.54797e-10	0.006122	1	0
FLT4	2324	broad.mit.edu	37	5	180041111	180041111	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:180041111G>A	ENST00000261937.6	-	24	3366	c.3288C>T	c.(3286-3288)gaC>gaT	p.D1096D	FLT4_ENST00000393347.3_Silent_p.D1096D|FLT4_ENST00000502649.1_Silent_p.D1096D	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1096	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	AGGACCACACGTCACTCTGCG	0.622000													33	51					0	0	0.003755	0	0
GIGYF1	64599	broad.mit.edu	37	7	100283898	100283898	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:100283898C>G	ENST00000275732.5	-	8	2062	c.853G>C	c.(853-855)Gag>Cag	p.E285Q	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	285										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TTGTCCTCCTCAAAGCCTTCA	0.607000													27	101					0	0	0.001786	0	0
UBXN6	80700	broad.mit.edu	37	19	4453979	4453979	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:4453979C>T	ENST00000301281.6	-	2	319	c.195G>A	c.(193-195)caG>caA	p.Q65Q	UBXN6_ENST00000394765.3_Silent_p.Q12Q	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	65						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						GGGACTGCTTCTGCTCCAGCC	0.672000													48	127					0	0	0.003610	0	0
SLC35A4	113829	broad.mit.edu	37	5	139947635	139947635	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:139947635C>T	ENST00000514199.1	+	2	2567	c.881C>T	c.(880-882)tCa>tTa	p.S294L	SLC35A4_ENST00000323146.3_Missense_Mutation_p.S294L|APBB3_ENST00000507279.1_Intron			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	294	Leu-rich.					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGTGCTCTCAGCAGTCCTG	0.592000													19	49					0	0	0.007413	0	0
DGKD	8527	broad.mit.edu	37	2	234343105	234343105	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:234343105C>T	ENST00000264057.2	+	4	440	c.428C>T	c.(427-429)aCt>aTt	p.T143I	DGKD_ENST00000409813.3_Missense_Mutation_p.T99I	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	143	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GCATTAAAGACTGTGCAGAAC	0.443000													15	93					0	0	0.002450	0	0
NHS	4810	broad.mit.edu	37	X	17744900	17744900	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:17744900C>G	ENST00000380060.3	+	6	2949	c.2611C>G	c.(2611-2613)Ctt>Gtt	p.L871V	NHS_ENST00000398097.3_Missense_Mutation_p.L715V	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	871						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GAAGCTGCCTCTTGATTTCGC	0.473000													19	53					0	0	0.006122	0	0
KDM2A	22992	broad.mit.edu	37	11	67022406	67022406	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:67022406G>A	ENST00000529006.2	+	21	3815	c.3369G>A	c.(3367-3369)ttG>ttA	p.L1123L	KDM2A_ENST00000530342.1_Silent_p.L684L|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_Silent_p.L581L|KDM2A_ENST00000398645.2_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	1123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						ACGTCACCTTGATCGACCTTC	0.502000													6	19					0	0	0.001984	0	0
MYO16	23026	broad.mit.edu	37	13	109613989	109613989	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:109613989C>T	ENST00000356711.2	+	18	2200	c.2074C>T	c.(2074-2076)Cag>Tag	p.Q692*	MYO16_ENST00000457511.2_Nonsense_Mutation_p.Q204*|MYO16_ENST00000251041.5_Nonsense_Mutation_p.Q692*|MYO16_ENST00000357550.2_Nonsense_Mutation_p.Q692*	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	692	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTCTGACCTCCAGCTCCTGGA	0.458000													40	68					0	0	0.002222	0	0
RSPH4A	345895	broad.mit.edu	37	6	116938321	116938321	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:116938321G>A	ENST00000229554.5	+	1	672	c.535G>A	c.(535-537)Gac>Aac	p.D179N	RSPH4A_ENST00000368580.4_Missense_Mutation_p.D179N|RSPH4A_ENST00000368581.4_Missense_Mutation_p.D179N	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	179					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCTGAGATTTGACGTTTTTCA	0.502000									Kartagener syndrome				26	155					0	0	0.004656	0	0
COL11A1	1301	broad.mit.edu	37	1	103478004	103478004	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:103478004C>T	ENST00000358392.2	-	14	1947	c.1630G>A	c.(1630-1632)Ggc>Agc	p.G544S	COL11A1_ENST00000370096.3_Missense_Mutation_p.G532S|COL11A1_ENST00000512756.1_Missense_Mutation_p.G416S|COL11A1_ENST00000353414.4_Missense_Mutation_p.G493S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	532	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCCATTGGGCCAGGTGGGCCT	0.388000													9	24					0	0	0.008291	0	0
MGA	23269	broad.mit.edu	37	15	42028795	42028795	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:42028795C>T	ENST00000219905.7	+	13	4514	c.4333C>T	c.(4333-4335)Cat>Tat	p.H1445Y	MGA_ENST00000570161.1_Missense_Mutation_p.H1445Y|MGA_ENST00000389936.4_Missense_Mutation_p.H1445Y|MGA_ENST00000545763.1_Missense_Mutation_p.H1445Y|MGA_ENST00000566586.1_Missense_Mutation_p.H1445Y	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1445						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GGAGAGATTACATGGAGGCAA	0.493000													13	47					0	0	0.001855	0	0
LCE2B	26239	broad.mit.edu	37	1	152659594	152659594	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:152659594G>C	ENST00000368780.3	+	2	329	c.275G>C	c.(274-276)tGt>tCt	p.C92S	LCE2B_ENST00000417924.2_Missense_Mutation_p.C92S	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	92	Cys-rich.				keratinization					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCGACTGCTGTGAGAGTGAA	0.632000													35	108					0	0	0.003271	0	0
SNTG2	54221	broad.mit.edu	37	2	1263181	1263181	+	Missense_Mutation	SNP	C	C	G	rs145354756	by1000genomes	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:1263181C>G	ENST00000308624.5	+	13	1174	c.1045C>G	c.(1045-1047)Cac>Gac	p.H349D	SNTG2_ENST00000407292.1_Missense_Mutation_p.H222D	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	349	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	p.H349Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		AAGGACCTATCACCTCTGTGA	0.413000													30	64					0	0	0.003755	0	0
SQRDL	58472	broad.mit.edu	37	15	45965961	45965961	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:45965961C>T	ENST00000260324.7	+	5	1002	c.616C>T	c.(616-618)Cag>Tag	p.Q206*	RP11-96O20.4_ENST00000564080.1_Nonsense_Mutation_p.Q206*|SQRDL_ENST00000568606.1_Nonsense_Mutation_p.Q206*	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	206							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		TGGAGCCCCTCAGAAGATCAT	0.478000													15	64					0	0	0.003163	0	0
EIF4A3	9775	broad.mit.edu	37	17	78115643	78115643	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:78115643G>A	ENST00000269349.3	-	3	468	c.247C>T	c.(247-249)Cag>Tag	p.Q83*		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	83	Helicase ATP-binding.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			GTGCCGGACTGAGACCTATTC	0.478000													12	42					0	0	0.001368	0	0
MB21D1	115004	broad.mit.edu	37	6	74150012	74150012	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:74150012G>T	ENST00000370315.3	-	3	1128	c.1034C>A	c.(1033-1035)tCa>tAa	p.S345*	MB21D1_ENST00000370318.1_Nonsense_Mutation_p.S345*	NM_138441.2	NP_612450.2	Q8N884	M21D1_HUMAN	Mab-21 domain containing 1	345										central_nervous_system(1)|large_intestine(4)|lung(1)	6						AACTTTTGCTGAAAGCCAGTT	0.393000													30	76					1.2476e-16	1.74965e-16	0.006320	1	0
KCMF1	56888	broad.mit.edu	37	2	85262250	85262250	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:85262250C>G	ENST00000409785.4	+	3	655	c.296C>G	c.(295-297)tCt>tGt	p.S99C		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1							intracellular	ligase activity|zinc ion binding			ovary(3)	3						CATGTTACTTCTGAACATGCA	0.378000													16	24					0	0	0.004990	0	0
PARP4	143	broad.mit.edu	37	13	25008601	25008601	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:25008601C>T	ENST00000381989.3	-	31	4783	c.4678G>A	c.(4678-4680)Gaa>Aaa	p.E1560K		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1560					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CACACTATTTCATCCTCTTCT	0.398000													16	96					0	0	0.003163	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65239700	65239700	+	Missense_Mutation	SNP	C	C	T	rs145708523	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:65239700C>T	ENST00000380230.3	+	13	1267	c.1238C>T	c.(1237-1239)tCt>tTt	p.S413F	ANKDD1A_ENST00000395723.1_Missense_Mutation_p.S290F|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.S413F|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.S381F	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	413	Death.				signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CAGCTCCGTTCTGTGCTGTGG	0.592000													9	20					0	0	0.000978	0	0
IPO7	10527	broad.mit.edu	37	11	9435956	9435956	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:9435956C>T	ENST00000379719.3	+	5	776	c.634C>T	c.(634-636)Cag>Tag	p.Q212*		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	212					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TGCTCTTGTTCAGGTAATATC	0.343000													8	71					0	0	0.006214	0	0
MKI67	4288	broad.mit.edu	37	10	129903899	129903899	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:129903899C>G	ENST00000368654.3	-	13	6580	c.6205G>C	c.(6205-6207)Gag>Cag	p.E2069Q	MKI67_ENST00000368653.3_Missense_Mutation_p.E1709Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2069	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GATTGGGCCTCTTCCTTAGGT	0.483000													64	320					0	0	0.003610	0	0
CLEC6A	93978	broad.mit.edu	37	12	8618181	8618181	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:8618181G>A	ENST00000382073.3	+	4	511	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	109	C-type lectin.				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					GAACTGTGTTGAGATGGGAGC	0.393000													30	77					0	0	0.003755	0	0
RBM25	58517	broad.mit.edu	37	14	73576063	73576063	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:73576063C>T	ENST00000261973.7	+	14	1840	c.1555C>T	c.(1555-1557)Cag>Tag	p.Q519*	RBM25_ENST00000527432.1_Nonsense_Mutation_p.Q519*|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	519	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		AAGTGCTCTTCAGAAAAGGTT	0.428000													37	118					0	0	0.008740	0	0
FAM20A	54757	broad.mit.edu	37	17	66550954	66550954	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:66550954C>T	ENST00000592554.1	-	3	1326	c.604G>A	c.(604-606)Gag>Aag	p.E202K	FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	202						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					AAGGCTTTCTCATCTTGACTG	0.542000													39	39					0	0	0.008740	0	0
GPANK1	7918	broad.mit.edu	37	6	31631705	31631705	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:31631705G>A	ENST00000375906.1	-	3	1235	c.551C>T	c.(550-552)gCt>gTt	p.A184V	GPANK1_ENST00000375900.4_Missense_Mutation_p.A184V|GPANK1_ENST00000375896.4_Missense_Mutation_p.A184V|GPANK1_ENST00000375895.2_Missense_Mutation_p.A184V|GPANK1_ENST00000375893.2_Missense_Mutation_p.A184V	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	184						intracellular	nucleic acid binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						AGCTTCTTCAGCGAGCTGAGC	0.642000													19	40					0	0	0.007413	0	0
LRRK2	120892	broad.mit.edu	37	12	40629491	40629491	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:40629491G>A	ENST00000298910.7	+	4	469	c.411G>A	c.(409-411)aaG>aaA	p.K137K	LRRK2_ENST00000343742.2_Silent_p.K137K	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	137					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTGGACTGAAGACCTTAGATC	0.303000													12	53					0	0	0.001855	0	0
EVI5	7813	broad.mit.edu	37	1	93091443	93091443	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:93091443C>T	ENST00000370331.1	-	13	1537	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	EVI5_ENST00000491940.1_5'UTR|EVI5_ENST00000540033.1_Missense_Mutation_p.E510K|EVI5_ENST00000543509.1_Missense_Mutation_p.E521K	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	510	Dimerization.|Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		GCAATGAGTTCTTCCTGAAGC	0.338000													31	46					0	0	0.001786	0	0
PCNX	22990	broad.mit.edu	37	14	71479708	71479708	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:71479708C>G	ENST00000304743.2	+	11	3231	c.2785C>G	c.(2785-2787)Ctc>Gtc	p.L929V	PCNX_ENST00000238570.5_Missense_Mutation_p.L929V|PCNX_ENST00000439984.3_Intron	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	929						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TTAGCTCTCTCTCCCACAGAT	0.338000													9	62					0	0	0.006214	0	0
MGA	23269	broad.mit.edu	37	15	42028655	42028655	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:42028655C>G	ENST00000219905.7	+	13	4374	c.4193C>G	c.(4192-4194)tCt>tGt	p.S1398C	MGA_ENST00000570161.1_Missense_Mutation_p.S1398C|MGA_ENST00000389936.4_Missense_Mutation_p.S1398C|MGA_ENST00000545763.1_Missense_Mutation_p.S1398C|MGA_ENST00000566586.1_Missense_Mutation_p.S1398C	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1398						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.S1398F(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GTGAAAATCTCTATGCCATCA	0.468000													17	56					0	0	0.004990	0	0
FBXO46	23403	broad.mit.edu	37	19	46215530	46215530	+	Silent	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:46215530G>T	ENST00000317683.3	-	2	1357	c.1224C>A	c.(1222-1224)ctC>ctA	p.L408L		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	408							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGAGAAAGAAGAGCTGGCCCG	0.701000													8	62					2.52707e-12	3.50466e-12	0.006214	1	0
GPR45	11250	broad.mit.edu	37	2	105859262	105859262	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:105859262A>C	ENST00000258456.1	+	1	1063	c.947A>C	c.(946-948)aAg>aCg	p.K316T		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	316						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						AGTTACCTCAAGTCCGTCTTC	0.547000													19	127					0	0	0.007413	0	0
VAT1L	57687	broad.mit.edu	37	16	77822778	77822778	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:77822778C>G	ENST00000302536.2	+	1	352	c.199C>G	c.(199-201)Cag>Gag	p.Q67E		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	67							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GCCCGAGCCTCAGGACGGCGA	0.672000													6	13					0	0	0.001984	0	0
SPIRE2	84501	broad.mit.edu	37	16	89929889	89929889	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:89929889C>T	ENST00000378247.3	+	11	1624	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F	SPIRE2_ENST00000393062.2_Silent_p.F527F	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	527					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CCTAGGAGTTCAGCCACCCCG	0.597000													12	36					0	0	0.001368	0	0
DYTN	391475	broad.mit.edu	37	2	207530676	207530676	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:207530676C>A	ENST00000452335.2	-	10	1174	c.1058G>T	c.(1057-1059)cGa>cTa	p.R353L		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	353						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TGTTTCAAATCGACAAATTCT	0.393000													17	80					3.32936e-07	4.48704e-07	0.006122	1	0
NPAS1	4861	broad.mit.edu	37	19	47535945	47535945	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:47535945C>G	ENST00000602212.1	+	5	697	c.477C>G	c.(475-477)ttC>ttG	p.F159L	NPAS1_ENST00000602189.1_5'UTR|NPAS1_ENST00000449844.2_Missense_Mutation_p.F159L			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	159	PAS 1.				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		AAGGAAAATTCCTCTACATCT	0.577000											OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	101					0	0	0.005443	0	0
CELSR3	1951	broad.mit.edu	37	3	48698805	48698805	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:48698805C>G	ENST00000544264.1	-	1	1543	c.1263G>C	c.(1261-1263)gtG>gtC	p.V421V	CELSR3_ENST00000164024.4_Silent_p.V421V			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	421	Cadherin 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGGCTACTGTCACGGCCACCA	0.662000													36	53					0	0	0.004289	0	0
TTYH3	80727	broad.mit.edu	37	7	2701309	2701309	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:2701309C>G	ENST00000258796.7	+	14	1713	c.1508C>G	c.(1507-1509)tCc>tGc	p.S503C	TTYH3_ENST00000407643.1_Missense_Mutation_p.S471C|TTYH3_ENST00000403167.1_Missense_Mutation_p.S332C	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	503						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CAGTACACCTCCAGCATGAGA	0.682000													8	15					0	0	0.004482	0	0
CSPG5	10675	broad.mit.edu	37	3	47619161	47619161	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:47619161C>T	ENST00000383738.2	-	2	2453	c.355G>A	c.(355-357)Gat>Aat	p.D119N	CSPG5_ENST00000264723.4_Missense_Mutation_p.D119N|CSPG5_ENST00000456150.1_5'UTR	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	119					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCCTGGGCATCGCCGCTGCCC	0.692000													16	82					0	0	0.004990	0	0
KRT37	8688	broad.mit.edu	37	17	39580734	39580734	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:39580734G>A	ENST00000225550.3	-	1	41	c.42C>T	c.(40-42)tgC>tgT	p.C14C	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	14	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GAGCCATGGTGCAACCCAGAG	0.577000													30	101					0	0	0.002445	0	0
C2CD3	26005	broad.mit.edu	37	11	73844510	73844510	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:73844510G>A	ENST00000334126.7	-	6	1274	c.1048C>T	c.(1048-1050)Cat>Tat	p.H350Y	C2CD3_ENST00000313663.7_Missense_Mutation_p.H350Y|C2CD3_ENST00000539061.1_Missense_Mutation_p.H350Y			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	350						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ATAGGAGGATGAACTTGGTCC	0.393000													13	20					0	0	0.002450	0	0
GKAP1	80318	broad.mit.edu	37	9	86368211	86368211	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:86368211C>T	ENST00000376371.2	-	9	1202	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	GKAP1_ENST00000376365.3_Missense_Mutation_p.E217K	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	268					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						TTCTGGATTTCAGCATCTTTC	0.323000													19	55					0	0	0.007413	0	0
NYAP1	222950	broad.mit.edu	37	7	100087045	100087045	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:100087045C>G	ENST00000423930.1	+	4	1860	c.1701C>G	c.(1699-1701)ctC>ctG	p.L567L	NYAP1_ENST00000300179.2_Silent_p.L567L|NYAP1_ENST00000454988.1_Silent_p.L510L			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	567																	ATGAGAGCCTCAAGGCTGGGG	0.647000													18	42					0	0	0.006122	0	0
NOTCH2	4853	broad.mit.edu	37	1	120461054	120461054	+	Silent	SNP	C	C	T	rs149442704		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:120461054C>T	ENST00000256646.2	-	32	6123	c.5904G>A	c.(5902-5904)gcG>gcA	p.A1968A		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1968					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATTCACATCCGCTTGGCAGT	0.527000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				11	104					0	0	0.001368	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90577917	90577917	+	RNA	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:90577917G>C	ENST00000551025.1	+	0	6345							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CTTCAGATAAGATGGGTCATA	0.368000													14	45					0	0	0.003163	0	0
CYP11B2	1585	broad.mit.edu	37	8	143999073	143999073	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:143999073C>T	ENST00000323110.2	-	1	186	c.184G>A	c.(184-186)Gag>Aag	p.E62K		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	62					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	TGCAGGTGCTCATAACCCTGC	0.637000									Familial Hyperaldosteronism type I				6	55					0	0	0.001168	0	0
MICALCL	84953	broad.mit.edu	37	11	12341262	12341262	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:12341262C>T	ENST00000256186.2	+	4	1737	c.1446C>T	c.(1444-1446)ctC>ctT	p.L482L		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	482					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		ACTTTCCCCTCAGAGCACAGG	0.468000													32	111					0	0	0.002445	0	0
ELF3	1999	broad.mit.edu	37	1	201981484	201981484	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:201981484C>T	ENST00000359651.3	+	3	3590	c.398C>T	c.(397-399)tCt>tTt	p.S133F	ELF3_ENST00000367283.3_Missense_Mutation_p.S133F|ELF3_ENST00000367284.5_Missense_Mutation_p.S133F|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000495848.1_3'UTR			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	133					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						TCCAGCTCTTCTGATGAGCTC	0.582000													24	132					0	0	0.004656	0	0
CCDC110	256309	broad.mit.edu	37	4	186392204	186392204	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:186392204C>T	ENST00000307588.3	-	2	86		c.e2-1		CCDC110_ENST00000510617.1_Splice_Site|CCDC110_ENST00000507501.1_5'UTR|CCDC110_ENST00000393540.3_Splice_Site	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110							nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TGCTGCTTTTCTGTAACAGAA	0.617000													42	74					0	0	0.002222	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	174155	174155	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:174155G>C	ENST00000283426.6	+	16	3326	c.3276G>C	c.(3274-3276)aaG>aaC	p.K1092N		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1092	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CAGAGGTCAAGAGTGCATGGA	0.592000													6	7					0	0	0.001168	0	0
NCOA6	23054	broad.mit.edu	37	20	33370146	33370146	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:33370146C>G	ENST00000374796.2	-	4	2583	c.13G>C	c.(13-15)Gac>Cac	p.D5H	NCOA6_ENST00000359003.2_Missense_Mutation_p.D5H			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	5	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TTTGGAAGGTCATCCAAAACC	0.368000													14	47					0	0	0.001855	0	0
U2AF1L4	199746	broad.mit.edu	37	19	36235278	36235278	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:36235278C>G	ENST00000589807.1	-	4	330	c.290G>C	c.(289-291)aGa>aCa	p.R97T	U2AF1L4_ENST00000378975.3_Missense_Mutation_p.E59D|U2AF1L4_ENST00000292879.5_Missense_Mutation_p.E59D|U2AF1L4_ENST00000412391.2_Missense_Mutation_p.E98D																							ACACATTCATCTCTTCAATCT	0.562000													37	186					0	0	0.002222	0	0
EPB41L3	23136	broad.mit.edu	37	18	5398076	5398076	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:5398076G>A	ENST00000341928.2	-	17	2756	c.2416C>T	c.(2416-2418)Cga>Tga	p.R806*	EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Nonsense_Mutation_p.R103*|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.R806*|EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.R637*|EPB41L3_ENST00000542146.1_Nonsense_Mutation_p.R111*	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	806	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GTTGGTTTTCGCGCAGACTCT	0.453000													45	306					0	0	0.003610	0	0
ZNF507	22847	broad.mit.edu	37	19	32873422	32873422	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:32873422C>A	ENST00000311921.4	+	5	2602	c.2410C>A	c.(2410-2412)Cat>Aat	p.H804N	ZNF507_ENST00000355898.5_Missense_Mutation_p.H804N|ZNF507_ENST00000544431.1_Missense_Mutation_p.H808N	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TTTGAAGTCTCATATGTGGAA	0.443000													108	338					6.17869e-53	8.8407e-53	0.003610	1	0
PLA2G15	23659	broad.mit.edu	37	16	68293167	68293167	+	Silent	SNP	C	C	T	rs142263893		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:68293167C>T	ENST00000219345.5	+	6	929	c.846C>T	c.(844-846)ttC>ttT	p.F282F	RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000444212.2_Silent_p.F82F|PLA2G15_ENST00000413021.2_Silent_p.F188F|PLA2G15_ENST00000566188.1_3'UTR	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	282					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						AGAAGGTGTTCGTGCAGACAC	0.577000													21	64					0	0	0.001523	0	0
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													5	112					0	0	0.001168	0	0
FAM161A	84140	broad.mit.edu	37	2	62063223	62063223	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:62063223C>A	ENST00000404929.1	-	5	1784	c.1773G>T	c.(1771-1773)atG>atT	p.M591I	FAM161A_ENST00000405894.3_Missense_Mutation_p.M535I	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	540					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGTATTCTCTCATCCTTTCCT	0.299000													53	145					5.13769e-22	7.27428e-22	0.003610	1	0
LRIG1	26018	broad.mit.edu	37	3	66434683	66434683	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:66434683G>A	ENST00000383703.3	-	15	2478	c.1875C>T	c.(1873-1875)ttC>ttT	p.F625F	LRIG1_ENST00000273261.3_Silent_p.F601F|SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000496559.2_5'UTR			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	601	Ig-like C2-type 2.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GCGTTTTGGTGAATGATGGCA	0.547000													56	283					0	0	0.003610	0	0
DDB2	1643	broad.mit.edu	37	11	47254407	47254407	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:47254407C>T	ENST00000256996.4	+	4	694	c.499C>T	c.(499-501)Ctc>Ttc	p.L167F	DDB2_ENST00000378600.3_Intron|DDB2_ENST00000378603.3_Missense_Mutation_p.L103F|DDB2_ENST00000378601.3_Missense_Mutation_p.L167F	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	167					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						GTTTAACCCTCTCAATACCAA	0.498000			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum				10	112					0	0	0.000978	0	0
NOTCH1	4851	broad.mit.edu	37	9	139390629	139390629	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:139390629G>A	ENST00000277541.6	-	34	7637	c.7562C>T	c.(7561-7563)tCc>tTc	p.S2521F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2521	Poly-Ser.				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			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)		GGACGAGCTGGACCACTGGTC	0.662000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			8	33					0	0	0.000978	0	0
RPS6	6194	broad.mit.edu	37	9	19376375	19376375	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:19376375C>G	ENST00000380394.4	-	6	724	c.666G>C	c.(664-666)gaG>gaC	p.E222D	RPS6_ENST00000380384.1_Missense_Mutation_p.E191D|RPS6_ENST00000498815.1_5'UTR|RPS6_ENST00000315377.4_Missense_Mutation_p.E191D	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6	222					endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding			endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		CCTGGCGCTTCTCCTTAGCCT	0.448000													32	52					0	0	0.002096	0	0
TMEM18	129787	broad.mit.edu	37	2	675513	675513	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:675513G>T	ENST00000281017.3	-	2	268	c.175C>A	c.(175-177)Cta>Ata	p.L59I	TMEM18_ENST00000405941.3_Missense_Mutation_p.L62I|TMEM18_ENST00000355654.2_Missense_Mutation_p.L46I	NM_152834.2	NP_690047.2	Q96B42	TMM18_HUMAN	transmembrane protein 18	59					cell migration	integral to membrane|nuclear membrane				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		TACTCACCTAGACACAGAAAG	0.483000													9	113					3.86212e-05	5.13684e-05	0.008291	1	0
GPR84	53831	broad.mit.edu	37	12	54756605	54756605	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:54756605C>G	ENST00000551809.1	-	1	1666	c.1031G>C	c.(1030-1032)aGa>aCa	p.R344T	RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.R344T|RP11-753H16.5_ENST00000552785.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	344						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						AGCCTGGACTCTGGCATCCAG	0.537000													66	150					0	0	0.003610	0	0
SPG7	6687	broad.mit.edu	37	16	89611106	89611106	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:89611106G>T	ENST00000268704.2	+	10	1390	c.1375G>T	c.(1375-1377)Gac>Tac	p.D459Y		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	459					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GAACCGAGCTGACATTTTGGA	0.602000													44	87					9.39024e-22	1.32722e-21	0.002222	1	0
KCTD2	23510	broad.mit.edu	37	17	73055613	73055613	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:73055613G>A	ENST00000322444.6	+	4	555	c.549G>A	c.(547-549)gtG>gtA	p.V183V	KCTD2_ENST00000581589.1_5'UTR	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	183						voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|lung(2)	3	all_lung(278;0.226)					AGGGCCCCGTGAAGCACGTGT	0.527000													16	38					0	0	0.003163	0	0
EPB41L1	2036	broad.mit.edu	37	20	34776319	34776319	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:34776319C>T	ENST00000338074.2	+	9	1085	c.924C>T	c.(922-924)ctC>ctT	p.L308L	EPB41L1_ENST00000441639.1_Silent_p.L246L|EPB41L1_ENST00000373950.2_Silent_p.L211L|EPB41L1_ENST00000202028.5_Silent_p.L246L|EPB41L1_ENST00000373941.1_Silent_p.L308L|EPB41L1_ENST00000373946.3_Silent_p.L277L	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	308	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					ATGGCCTGCTCATCTACCGGG	0.562000													27	100					0	0	0.005443	0	0
MUC16	94025	broad.mit.edu	37	19	9086405	9086405	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:9086405C>T	ENST00000397910.4	-	1	5613	c.5410G>A	c.(5410-5412)Gaa>Aaa	p.E1804K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1804	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTGTATTTTCAGTGCTTCCC	0.463000													27	69					0	0	0.004656	0	0
CXCR4	7852	broad.mit.edu	37	2	136872950	136872950	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:136872950C>T	ENST00000409817.1	-	1	863	c.560G>A	c.(559-561)aGa>aAa	p.R187K	CXCR4_ENST00000241393.3_Missense_Mutation_p.R183K|CXCR4_ENST00000466288.1_5'UTR	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	183	Chemokine binding, important for signaling and HIV-1 coreceptor activity.				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	ACAGATATATCTGTCATCTGC	0.507000													13	84					0	0	0.001368	0	0
CDK8	1024	broad.mit.edu	37	13	26928010	26928010	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:26928010G>C	ENST00000381527.3	+	4	952	c.449G>C	c.(448-450)aGa>aCa	p.R150T	CDK8_ENST00000536792.1_Missense_Mutation_p.R150T	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	150	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		GTGTTGCACAGAGATTTGGTA	0.408000													7	44					0	0	0.004482	0	0
HSF2	3298	broad.mit.edu	37	6	122743440	122743440	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:122743440C>G	ENST00000452194.1	+	8	1014	c.827C>G	c.(826-828)tCc>tGc	p.S276C	HSF2_ENST00000368455.4_Missense_Mutation_p.S276C	NM_001135564.1	NP_001129036.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	276					response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		TCTGATCCCTCCAAGTAAGGA	0.274000													43	165					0	0	0.003610	0	0
AMPD1	270	broad.mit.edu	37	1	115236063	115236063	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:115236063C>A	ENST00000353928.6	-	2	174	c.28G>T	c.(28-30)Gag>Tag	p.E10*	AMPD1_ENST00000520113.2_Nonsense_Mutation_p.E43*|AMPD1_ENST00000369538.3_Intron	NM_000036.2	NP_000027.2	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	10					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TCACGTTTCTCTTCAGCTGTA	0.323000													22	75					1.64293e-13	2.28631e-13	0.003330	1	0
TDRD6	221400	broad.mit.edu	37	6	46660716	46660716	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:46660716C>G	ENST00000544460.1	+	1	5105	c.4851C>G	c.(4849-4851)ctC>ctG	p.L1617L	TDRD6_ENST00000316081.6_Silent_p.L1617L	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1617	Tudor 7.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CAAAAGCACTCTGGGCCATTC	0.423000													17	81					0	0	0.001523	0	0
PRKAR2B	5577	broad.mit.edu	37	7	106797459	106797459	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:106797459G>C	ENST00000265717.4	+	9	1208	c.949G>C	c.(949-951)Gaa>Caa	p.E317Q		NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	317					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						TTTCATTGTAGAATCTGGAGA	0.343000													44	136					0	0	0.003610	0	0
ZNF513	130557	broad.mit.edu	37	2	27600477	27600477	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:27600477T>C	ENST00000323703.6	-	4	1759	c.1561A>G	c.(1561-1563)Agc>Ggc	p.S521G	ZNF513_ENST00000407879.1_Missense_Mutation_p.S459G	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	521					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCGAGAGCTCAAAACAGAG	0.632000													3	89					0	0	0.000248	0	0
PTPRJ	5795	broad.mit.edu	37	11	48152048	48152048	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:48152048C>T	ENST00000418331.2	+	8	1747	c.1395C>T	c.(1393-1395)gtC>gtT	p.V465V	PTPRJ_ENST00000440289.2_Silent_p.V465V	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	465	Fibronectin type-III 5.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGACAGTGGTCAGCACGACGG	0.468000													16	44					0	0	0.004007	0	0
LRFN1	57622	broad.mit.edu	37	19	39804678	39804678	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:39804678G>C	ENST00000248668.4	-	1	1298	c.1299C>G	c.(1297-1299)ctC>ctG	p.L433L		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	433	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			AGTTCGAGGTGAGCTCGGCTG	0.652000													6	44					0	0	0.003080	0	0
DHX34	9704	broad.mit.edu	37	19	47856631	47856631	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:47856631C>T	ENST00000328771.4	+	2	693	c.344C>T	c.(343-345)aCg>aTg	p.T115M		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	115						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GGCCCTGCCACGCGGGGCTCT	0.642000													27	161					0	0	0.005443	0	0
CTGF	1490	broad.mit.edu	37	6	132271151	132271151	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:132271151C>G	ENST00000367976.3	-	4	891	c.691G>C	c.(691-693)Gag>Cag	p.E231Q		NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	231	TSP type-1.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding	p.E231Q(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		CTCTGCTTCTCTAGCCTGCAG	0.537000											OREG0017666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	31					0	0	0.004007	0	0
ISLR2	57611	broad.mit.edu	37	15	74427127	74427127	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:74427127G>C	ENST00000361742.3	+	4	2801	c.2032G>C	c.(2032-2034)Gat>Cat	p.D678H	ISLR2_ENST00000435464.1_Missense_Mutation_p.D678H|ISLR2_ENST00000565540.1_Missense_Mutation_p.D678H|ISLR2_ENST00000453268.2_Missense_Mutation_p.D678H|ISLR2_ENST00000419208.1_Missense_Mutation_p.D678H|ISLR2_ENST00000445793.1_Missense_Mutation_p.D678H|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.D678H	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	678					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GGAGGGCCTTGATGAAGACGC	0.667000											OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	52					0	0	0.002299	0	0
COL7A1	1294	broad.mit.edu	37	3	48612779	48612779	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:48612779C>T	ENST00000328333.8	-	73	6280	c.6173G>A	c.(6172-6174)gGa>gAa	p.G2058E	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2026E	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2058	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CACCCTCTCTCCTGGCCTTCC	0.697000													26	30					0	0	0.007291	0	0
RBBP8	5932	broad.mit.edu	37	18	20564853	20564853	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:20564853G>A	ENST00000399722.2	+	8	960	c.609G>A	c.(607-609)atG>atA	p.M203I	RBBP8_ENST00000399725.2_Missense_Mutation_p.M203I|RBBP8_ENST00000327155.5_Missense_Mutation_p.M203I|RBBP8_ENST00000360790.5_Missense_Mutation_p.M203I	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	203					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			CCTTAGAAATGAGAAAAGTTT	0.279000								Homologous recombination					9	61					0	0	0.006214	0	0
PTPRN2	5799	broad.mit.edu	37	7	157387990	157387990	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:157387990C>A	ENST00000389413.3	-	16	2452	c.2349G>T	c.(2347-2349)agG>agT	p.R783S	PTPRN2_ENST00000404321.2_Missense_Mutation_p.R835S|PTPRN2_ENST00000389418.4_Missense_Mutation_p.R812S|PTPRN2_ENST00000409483.1_Missense_Mutation_p.R774S|PTPRN2_ENST00000389416.4_Missense_Mutation_p.R795S	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	812	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R812R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		ACGCGGGGTTCCTCGGGTCGT	0.532000													24	72					4.7796e-09	6.51181e-09	0.004656	1	0
GAREM	64762	broad.mit.edu	37	18	29848662	29848662	+	Silent	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:29848662C>A	ENST00000399218.4	-	6	1855	c.1800G>T	c.(1798-1800)gtG>gtT	p.V600V	GAREM_ENST00000269209.6_Silent_p.V601V	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		AATCAGTTTTCACTCGGTTAC	0.458000													15	46					1.05317e-09	1.44455e-09	0.002450	1	0
SBF2	81846	broad.mit.edu	37	11	9838482	9838482	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:9838482G>A	ENST00000256190.8	-	29	4020	c.3883C>T	c.(3883-3885)Cac>Tac	p.H1295Y		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1295	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GAGGCCGAGTGATCCTTGCCT	0.507000													13	59					0	0	0.001368	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342254	60342254	+	RNA	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:60342254C>T	ENST00000581291.1	-	0	1899																				breast(2)|kidney(1)|lung(2)	5						GAATGTCTCTCGAGCTGCACT	0.483000													18	124					0	0	0.004990	0	0
GRB14	2888	broad.mit.edu	37	2	165349549	165349549	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:165349549G>C	ENST00000263915.3	-	14	2158	c.1620C>G	c.(1618-1620)ctC>ctG	p.L540L	GRB14_ENST00000543549.1_Silent_p.L453L|GRB14_ENST00000497306.1_5'UTR	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	540					blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GGCTTGTCTAGAGAGCAATCC	0.353000													18	47					0	0	0.006122	0	0
GFOD2	81577	broad.mit.edu	37	16	67709505	67709505	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:67709505C>T	ENST00000268797.7	-	3	1056	c.711G>A	c.(709-711)gtG>gtA	p.V237V	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	237						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		AGTTGAGTGTCACTGTGCTAC	0.587000													22	60					0	0	0.001523	0	0
ZNF33B	7582	broad.mit.edu	37	10	43089326	43089326	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:43089326G>A	ENST00000359467.3	-	5	1186	c.1072C>T	c.(1072-1074)Caa>Taa	p.Q358*	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	358						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TGATTACATTGAAAGTGTTTC	0.418000													42	104					0	0	0.007835	0	0
SCN10A	6336	broad.mit.edu	37	3	38743465	38743465	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:38743465G>C	ENST00000449082.2	-	26	4521	c.4522C>G	c.(4522-4524)Ctg>Gtg	p.L1508V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1508					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ATTTTGCCCAGAATTTTCGTC	0.448000													14	94					0	0	0.002450	0	0
BDP1	55814	broad.mit.edu	37	5	70805391	70805391	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:70805391G>T	ENST00000358731.4	+	17	2735	c.2472G>T	c.(2470-2472)agG>agT	p.R824S	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	824	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GAACTGGAAGGAGAGAAATTT	0.413000													14	106					6.72482e-11	9.29456e-11	0.003163	1	0
PLCG2	5336	broad.mit.edu	37	16	81960752	81960752	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:81960752C>G	ENST00000359376.3	+	23	2697	c.2483C>G	c.(2482-2484)tCa>tGa	p.S828*		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	828	SH3.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GAGGACATCTCAACTGCAGAC	0.527000													59	144					0	0	0.003610	0	0
NSUN2	54888	broad.mit.edu	37	5	6620355	6620355	+	Translation_Start_Site	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:6620355G>C	ENST00000539938.1	-	0	905				NSUN2_ENST00000264670.6_Missense_Mutation_p.Q227E|NSUN2_ENST00000505264.1_5'UTR|NSUN2_ENST00000506139.1_Missense_Mutation_p.Q192E			Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2							cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CTCTTGGCTTGATGGACGAGC	0.522000													37	114					0	0	0.006230	0	0
SGCB	6443	broad.mit.edu	37	4	52894145	52894145	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:52894145C>G	ENST00000381431.5	-	5	964	c.742G>C	c.(742-744)Gag>Cag	p.E248Q	SGCB_ENST00000535450.1_Missense_Mutation_p.E178Q	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)	248	Cys-rich.				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GCCTTTAACTCCATATTACCA	0.333000													18	90					0	0	0.007413	0	0
MDH1B	130752	broad.mit.edu	37	2	207615685	207615685	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:207615685C>T	ENST00000374412.3	-	6	1300	c.1025G>A	c.(1024-1026)cGc>cAc	p.R342H	MDH1B_ENST00000449792.1_Missense_Mutation_p.R244H|MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Missense_Mutation_p.R342H	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	342					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TAAAACAGGGCGTGAATAATG	0.328000													12	46					0	0	0.000978	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37728859	37728859	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:37728859G>T	ENST00000330843.4	-	4	3473	c.3461C>A	c.(3460-3462)tCa>tAa	p.S1154*	RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1154					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTCCGAGGGTGAGACCCAGGC	0.542000											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	199					2.62699e-14	3.65886e-14	0.003163	1	0
SREBF1	6720	broad.mit.edu	37	17	17716007	17716007	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:17716007G>C	ENST00000355815.4	-	20	3632	c.3463C>G	c.(3463-3465)Cgc>Ggc	p.R1155G	SREBF1_ENST00000261646.5_Missense_Mutation_p.R1125G|SREBF1_ENST00000395757.1_Missense_Mutation_p.R871G|SREBF1_ENST00000338854.5_Intron	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	1125					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						AGCAGCCGGCGATCGCCAAGC	0.706000													3	12					0	0	0.004672	0	0
AQP5	362	broad.mit.edu	37	12	50355833	50355833	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:50355833C>T	ENST00000293599.6	+	1	181	c.33C>T	c.(31-33)ctC>ctT	p.L11L	RP11-469H8.6_ENST00000550214.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	11					carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity			large_intestine(1)|lung(3)	4						TGGCCTTCCTCAAGGCCGTGT	0.701000													12	34					0	0	0.001368	0	0
TRRAP	8295	broad.mit.edu	37	7	98548583	98548583	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:98548583G>C	ENST00000359863.4	+	38	5607	c.5398G>C	c.(5398-5400)Gaa>Caa	p.E1800Q	TRRAP_ENST00000355540.3_Missense_Mutation_p.E1782Q|TRRAP_ENST00000446306.3_Missense_Mutation_p.E1781Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1800					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCCCAATCCAGAAGGAGATAA	0.448000													69	238					0	0	0.003610	0	0
NPEPL1	79716	broad.mit.edu	37	20	57268911	57268911	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:57268911C>T	ENST00000356091.6	+	2	557	c.269C>T	c.(268-270)tCg>tTg	p.S90L	NPEPL1_ENST00000525967.1_Missense_Mutation_p.S62L|NPEPL1_ENST00000525817.1_Missense_Mutation_p.S42L|STX16-NPEPL1_ENST00000530122.1_3'UTR	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	90					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			AACAGCCCCTCGGCCGCCCAC	0.682000													10	47					0	0	0.008291	0	0
USP31	57478	broad.mit.edu	37	16	23096215	23096215	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:23096215G>A	ENST00000219689.7	-	11	1795	c.1796C>T	c.(1795-1797)tCc>tTc	p.S599F		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	599					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GAAACACTGGGATAAAGTGCA	0.488000													114	280					0	0	0.003610	0	0
TRMT1	55621	broad.mit.edu	37	19	13218411	13218411	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:13218411G>A	ENST00000592062.1	-	15	2130	c.1560C>T	c.(1558-1560)ttC>ttT	p.F520F	TRMT1_ENST00000221504.8_Silent_p.F491F|TRMT1_ENST00000437766.1_Silent_p.F520F|TRMT1_ENST00000357720.4_Silent_p.F520F			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	520							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		TGAGAATGCGGAACGCTGGGC	0.582000													8	11					0	0	0.006214	0	0
SYNE1	23345	broad.mit.edu	37	6	152551728	152551728	+	Missense_Mutation	SNP	C	C	G	rs143639400		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:152551728C>G	ENST00000367255.5	-	115	21750	c.21149G>C	c.(21148-21150)cGa>cCa	p.R7050P	SYNE1_ENST00000265368.4_Missense_Mutation_p.R7050P|SYNE1_ENST00000356820.4_Missense_Mutation_p.R1574P|SYNE1_ENST00000423061.1_Missense_Mutation_p.R6979P|SYNE1_ENST00000341594.5_Missense_Mutation_p.R6662P|SYNE1_ENST00000448038.1_Missense_Mutation_p.R6979P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7050					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCTCCAATTCGATGCTGTTG	0.393000										HNSCC(10;0.0054)			25	131					0	0	0.004656	0	0
ACLY	47	broad.mit.edu	37	17	40025364	40025364	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:40025364G>C	ENST00000352035.2	-	27	3196	c.3066C>G	c.(3064-3066)atC>atG	p.I1022M	ACLY_ENST00000588779.1_5'UTR|ACLY_ENST00000537919.1_Missense_Mutation_p.I751M|ACLY_ENST00000590151.1_Missense_Mutation_p.I1022M|ACLY_ENST00000393896.2_Missense_Mutation_p.I1012M|ACLY_ENST00000353196.1_Missense_Mutation_p.I1012M	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	1022					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CTACATTCAGGATAAGATTTG	0.363000													13	294					0	0	0.002450	0	0
PEX12	5193	broad.mit.edu	37	17	33903113	33903113	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:33903113G>C	ENST00000225873.4	-	3	1375	c.768C>G	c.(766-768)ttC>ttG	p.F256L		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	256					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACTGCAAGAAGAATACACCCA	0.468000													43	73					0	0	0.007835	0	0
CFHR1	3078	broad.mit.edu	37	1	196797272	196797272	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:196797272C>T	ENST00000320493.5	+	4	591	c.503C>T	c.(502-504)tCt>tTt	p.S168F	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.4_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	168	Sushi 3.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						AAATATCCATCTGGTGAGAGA	0.413000													17	26					0	0	0.006122	0	0
OR5T3	390154	broad.mit.edu	37	11	56020545	56020545	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:56020545G>A	ENST00000303059.3	+	1	870	c.870G>A	c.(868-870)atG>atA	p.M290I		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M290I(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TCAGTTATATGAGACCAAGTT	0.403000													11	96					0	0	0.000978	0	0
SRP68	6730	broad.mit.edu	37	17	74068563	74068563	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:74068563C>T	ENST00000307877.2	-	1	171	c.10G>A	c.(10-12)Gag>Aag	p.E4K	SRP68_ENST00000355113.5_5'UTR|SRP68_ENST00000539137.1_Missense_Mutation_p.E4K	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	4					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						ACCTGCTTCTCAGCAGCCATC	0.746000													23	80					0	0	0.002780	0	0
SYTL3	94120	broad.mit.edu	37	6	159184504	159184504	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:159184504G>T	ENST00000297239.9	+	16	1880	c.1686G>T	c.(1684-1686)atG>atT	p.M562I	SYTL3_ENST00000367081.3_Missense_Mutation_p.M288I|SYTL3_ENST00000360448.3_Missense_Mutation_p.M494I			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	562	C2 2.				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TCTTTGGAATGAACGACCGCT	0.488000													13	85					1.5842e-08	2.15112e-08	0.001855	1	0
TNFRSF6B	8771	broad.mit.edu	37	20	62329778	62329778	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:62329778G>A	ENST00000369996.1	+	3	865	c.765G>A	c.(763-765)ctG>ctA	p.L255L	RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	255					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			CCTTGCAGCTGAAGCTGCGTC	0.746000													9	14					0	0	0.006214	0	0
ZNF99	7652	broad.mit.edu	37	19	22940551	22940551	+	Silent	SNP	A	A	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:22940551A>C	ENST00000397104.3	-	5	1886	c.1887T>G	c.(1885-1887)ctT>ctG	p.L629L	ZNF99_ENST00000596209.1_Silent_p.L720L					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CATGTTTTCTAAGAGTTGAGG	0.363000													15	64					0	0	0.003163	0	0
MAP2K7	5609	broad.mit.edu	37	19	7968919	7968919	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:7968919C>G	ENST00000545011.1	+	1	155	c.90C>G	c.(88-90)ctC>ctG	p.L30L	MAP2K7_ENST00000397979.3_Silent_p.L30L|MAP2K7_ENST00000397983.3_Silent_p.L30L|MAP2K7_ENST00000397981.3_Silent_p.L30L			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	30					activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	GGATCGACCTCAACCTGGATA	0.746000													8	30					0	0	0.004482	0	0
VWA3A	146177	broad.mit.edu	37	16	22157565	22157565	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:22157565G>C	ENST00000389398.5	+	27	2835	c.2739G>C	c.(2737-2739)gtG>gtC	p.V913V	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	913						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		AGGGAGTGGTGAGACACATCC	0.532000													10	24					0	0	0.008291	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42092078	42092078	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:42092078G>A	ENST00000457542.2	+	3	458	c.172G>A	c.(172-174)Gac>Aac	p.D58N	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.D58N|MAPKBP1_ENST00000260357.7_Intron|MAPKBP1_ENST00000507762.1_3'UTR|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.D58N|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.D58N	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	58										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ACTTGCCTGTGACCCCCGATC	0.502000													57	162					0	0	0.003610	0	0
CHAF1A	10036	broad.mit.edu	37	19	4408975	4408975	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:4408975C>T	ENST00000301280.5	+	3	280	c.179C>T	c.(178-180)tCt>tTt	p.S60F		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	60	Binds to CBX1 chromo shadow domain.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGTACTTCTGTGCAAAGT	0.473000								Chromatin Structure					69	145					0	0	0.003610	0	0
MDM1	56890	broad.mit.edu	37	12	68707440	68707440	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:68707440G>C	ENST00000303145.7	-	10	1679	c.1593C>G	c.(1591-1593)ctC>ctG	p.L531L	MDM1_ENST00000540418.1_Silent_p.L251L|MDM1_ENST00000411698.2_Silent_p.L496L	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	531						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CTGGAGTAGTGAGATCATGAT	0.408000													24	158					0	0	0.002780	0	0
SLC41A3	54946	broad.mit.edu	37	3	125735707	125735707	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:125735707G>C	ENST00000383598.2	-	6	964	c.679C>G	c.(679-681)Ctg>Gtg	p.L227V	SLC41A3_ENST00000346785.5_Missense_Mutation_p.L217V|SLC41A3_ENST00000315891.6_Missense_Mutation_p.L253V|SLC41A3_ENST00000508835.1_Missense_Mutation_p.L136V|SLC41A3_ENST00000360370.4_Missense_Mutation_p.L253V	NM_001008487.1	NP_001008487.1	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	253						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		AGCGGCGTCAGATACCGACTA	0.582000													3	41					0	0	0.004672	0	0
VCAN	1462	broad.mit.edu	37	5	82837871	82837871	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:82837871G>T	ENST00000265077.3	+	8	9614	c.9049G>T	c.(9049-9051)Gct>Tct	p.A3017S	VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.A2030S|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3017	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AACTCAAGCAGCTTTAATCAG	0.498000													5	96					0.000602214	0.000796414	0.000602	1	0
MEGF6	1953	broad.mit.edu	37	1	3421837	3421837	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:3421837T>C	ENST00000356575.4	-	17	2349	c.2123A>G	c.(2122-2124)gAc>gGc	p.D708G	MEGF6_ENST00000294599.4_Missense_Mutation_p.D603G	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	708						extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCTCACGGAGTCACAGGCCAC	0.692000													6	35					0	0	0.001168	0	0
ZNF471	57573	broad.mit.edu	37	19	57036421	57036421	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:57036421G>A	ENST00000308031.5	+	5	1118	c.985G>A	c.(985-987)Gat>Aat	p.D329N	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Silent_p.V188V	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		AGCCTTCAGTGATGGCTCGTC	0.433000													21	91					0	0	0.003954	0	0
SPRED3	399473	broad.mit.edu	37	19	38882867	38882867	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:38882867C>T	ENST00000587013.1	+	3	572	c.494C>T	c.(493-495)tCc>tTc	p.S165F	SPRED3_ENST00000586301.1_Missense_Mutation_p.S121F|SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000338502.4_Missense_Mutation_p.S121F			Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	121					multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTCAccccctcctcctcctcc	0.647000													15	20					0	0	0.002450	0	0
CIT	11113	broad.mit.edu	37	12	120288075	120288075	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:120288075G>A	ENST00000392521.2	-	5	474	c.419C>T	c.(418-420)tCa>tTa	p.S140L	CIT_ENST00000261833.7_Missense_Mutation_p.S140L	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	140	Protein kinase.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTCAAAAAATGAAACCTAGGG	0.393000													71	202					0	0	0.003610	0	0
ELAVL1	1994	broad.mit.edu	37	19	8032455	8032455	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:8032455C>G	ENST00000407627.2	-	5	779	c.650G>C	c.(649-651)aGa>aCa	p.R217T	ELAVL1_ENST00000351593.5_Missense_Mutation_p.R244T|ELAVL1_ENST00000596459.1_Missense_Mutation_p.R217T|ELAVL1_ENST00000593807.1_Intron	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	217					3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CCACCTGAATCTCTGCGCCTG	0.622000													8	24					0	0	0.004482	0	0
HERC2P3	283755	broad.mit.edu	37	15	20651261	20651261	+	RNA	SNP	A	A	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:20651261A>G	ENST00000428453.1	-	0	2376																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CCTTGAGCAGAAGCATTCATA	0.498000													29	125					0	0	0.003755	0	0
NR6A1	2649	broad.mit.edu	37	9	127289083	127289083	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:127289083C>T	ENST00000487099.2	-	8	1333	c.1176G>A	c.(1174-1176)atG>atA	p.M392I	NR6A1_ENST00000344523.4_Missense_Mutation_p.M391I|NR6A1_ENST00000416460.2_Missense_Mutation_p.M387I|NR6A1_ENST00000373584.3_Missense_Mutation_p.M388I	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	392					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						TAATTGCTTTCATGCAAGCAT	0.498000													35	99					0	0	0.005524	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156632044	156632044	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:156632044G>C	ENST00000296518.7	+	6	936	c.727G>C	c.(727-729)Gat>Cat	p.D243H	GUCY1A3_ENST00000511108.1_Missense_Mutation_p.D243H|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.D243H|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.D243H|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.D243H|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.D243H			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	243					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTTCCATAATGATTGCAGCGA	0.502000													32	103					0	0	0.002836	0	0
HEXB	3074	broad.mit.edu	37	5	73981280	73981280	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:73981280G>A	ENST00000261416.7	+	1	312	c.195G>A	c.(193-195)atG>atA	p.M65I	HEXB_ENST00000511181.1_Intron	NM_000521.3	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	65					cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		TGGTGAAGATGACCCCGAACC	0.697000													10	20					0	0	0.008291	0	0
TOP1MT	116447	broad.mit.edu	37	8	144411579	144411579	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:144411579C>T	ENST00000523676.1	-	4	412	c.7G>A	c.(7-9)Gat>Aat	p.D3N	TOP1MT_ENST00000329245.4_Missense_Mutation_p.D101N|TOP1MT_ENST00000521193.1_Missense_Mutation_p.D3N|TOP1MT_ENST00000519148.1_Missense_Mutation_p.D3N			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	101					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TATTCATGATCTAACATCCTC	0.547000													15	121					0	0	0.003163	0	0
FGL1	2267	broad.mit.edu	37	8	17739572	17739572	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:17739572G>C	ENST00000398056.2	-	5	995	c.180C>G	c.(178-180)gtC>gtG	p.V60V	FGL1_ENST00000522444.1_Silent_p.V60V|FGL1_ENST00000381840.2_Silent_p.V60V|FGL1_ENST00000518650.1_Silent_p.V60V|RP11-156K13.2_ENST00000519368.1_RNA|FGL1_ENST00000398054.1_Silent_p.V60V|FGL1_ENST00000381841.2_Silent_p.V60V|FGL1_ENST00000427924.1_Silent_p.V60V			Q08830	FGL1_HUMAN	fibrinogen-like 1	60					signal transduction	fibrinogen complex	receptor binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		CAAGGAACTGGACTTCATTCT	0.478000													36	83					0	0	0.002836	0	0
HIST1H2AG	8969	broad.mit.edu	37	6	27101075	27101075	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:27101075G>C	ENST00000359193.2	+	1	244	c.225G>C	c.(223-225)aaG>aaC	p.K75N		NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	75					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						GCGACAACAAGAAGACCCGCA	0.662000													16	91					0	0	0.004990	0	0
UBE2O	63893	broad.mit.edu	37	17	74387651	74387651	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:74387651G>A	ENST00000319380.7	-	18	3316	c.3252C>T	c.(3250-3252)ttC>ttT	p.F1084F		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1084							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GGTCACTGTCGAAGCCGGCTT	0.577000													45	121					0	0	0.003610	0	0
TRPM2	7226	broad.mit.edu	37	21	45838307	45838307	+	Splice_Site	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr21:45838307G>C	ENST00000397928.1	+	22	3775	c.3330G>C	c.(3328-3330)aaG>aaC	p.K1110N	TRPM2_ENST00000300482.5_Splice_Site_p.K1110N|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000300481.9_Splice_Site_p.K1090N|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Splice_Site_p.K1110N	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1110						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCCTGACAGAGAACAAGCTGG	0.642000													7	57					0	0	0.003080	0	0
TSC1	7248	broad.mit.edu	37	9	135776115	135776115	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:135776115G>C	ENST00000298552.3	-	20	2833	c.2612C>G	c.(2611-2613)tCa>tGa	p.S871*	TSC1_ENST00000440111.2_Nonsense_Mutation_p.S871*|TSC1_ENST00000545250.1_Nonsense_Mutation_p.S820*	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	871					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TGTGGTATCTGAGTGCTTGTT	0.527000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				54	82					0	0	0.003610	0	0
OR8K1	390157	broad.mit.edu	37	11	56114212	56114212	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:56114212G>C	ENST00000279783.2	+	1	792	c.698G>C	c.(697-699)aGa>aCa	p.R233T		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					GCCATTCTCAGAATGAACTCA	0.378000										HNSCC(65;0.19)			13	53					0	0	0.001368	0	0
DDX21	9188	broad.mit.edu	37	10	70719870	70719870	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:70719870G>A	ENST00000354185.4	+	2	494	c.396G>A	c.(394-396)aaG>aaA	p.K132K		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	132						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	p.K132K(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGCCCAAGAAGATGAAGAAAG	0.408000													11	42					0	0	0.008291	0	0
SF3B3	23450	broad.mit.edu	37	16	70589022	70589022	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:70589022G>C	ENST00000302516.5	+	13	1834	c.1623G>C	c.(1621-1623)aaG>aaC	p.K541N		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	541					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CCCCTGGAAAGAAAACAATTG	0.453000													46	93					0	0	0.003214	0	0
PTPN12	5782	broad.mit.edu	37	7	77256781	77256781	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:77256781C>T	ENST00000248594.6	+	13	2057	c.1785C>T	c.(1783-1785)ctC>ctT	p.L595L	PTPN12_ENST00000415482.2_Silent_p.L476L|PTPN12_ENST00000435495.2_Silent_p.L465L	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	595						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GAACACCCCTCAGTTTTACTA	0.403000													44	134					0	0	0.002852	0	0
IRF2BP2	359948	broad.mit.edu	37	1	234744657	234744657	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:234744657G>A	ENST00000366609.3	-	1	614	c.584C>T	c.(583-585)tCg>tTg	p.S195L	IRF2BP2_ENST00000366610.3_Missense_Mutation_p.S195L|RP4-781K5.2_ENST00000436039.1_RNA	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	195	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			CGGCGTGGCCGAGCCGTTCAT	0.766000													7	15					0	0	0.001984	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177499	89177499	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:89177499G>A	ENST00000561129.2	+	1	545	c.415G>A	c.(415-417)Gag>Aag	p.E139K	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.E139K			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	139						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						GCAGAGCACCGAGGCGTCTGT	0.582000													30	33					0	0	0.001786	0	0
REG1P	5969	broad.mit.edu	37	2	79365040	79365040	+	RNA	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:79365040G>A	ENST00000444841.1	-	0	166																											AGGATAGAGTGAGGGCTTCAG	0.473000													4	9					0	0	0.000248	0	0
IRF6	3664	broad.mit.edu	37	1	209974759	209974759	+	Translation_Start_Site	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:209974759G>C	ENST00000367021.3	-	0	172				IRF6_ENST00000542854.1_Intron	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6						cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GGAGGGCCATGATCTGGGGGG	0.592000										HNSCC(57;0.16)			9	98					0	0	0.008291	0	0
ITFG2	55846	broad.mit.edu	37	12	2933049	2933049	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:2933049C>T	ENST00000228799.2	+	11	1319	c.1180C>T	c.(1180-1182)Ctg>Ttg	p.L394L	ITFG2_ENST00000542548.1_Silent_p.L282L|ITFG2_ENST00000419778.2_Silent_p.L217L	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	394										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GTCTACCAATCTGGTGAAACT	0.582000													43	97					0	0	0.003610	0	0
DNAH3	55567	broad.mit.edu	37	16	21132097	21132097	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:21132097C>G	ENST00000261383.3	-	11	1662	c.1663G>C	c.(1663-1665)Gag>Cag	p.E555Q	CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Missense_Mutation_p.E555Q	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	555	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATGCTGGGCTCTCCTGGCTCA	0.507000													15	38					0	0	0.004007	0	0
KRT37	8688	broad.mit.edu	37	17	39580750	39580750	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:39580750G>A	ENST00000225550.3	-	1	25	c.26C>T	c.(25-27)tCa>tTa	p.S9L	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	9	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CAGAGGGCATGAGGAGGTGCT	0.577000													28	94					0	0	0.002096	0	0
GABRA6	2559	broad.mit.edu	37	5	161116300	161116300	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:161116300T>G	ENST00000523217.1	+	5	699	c.457T>G	c.(457-459)Ttt>Gtt	p.F153V	GABRA6_ENST00000274545.5_Missense_Mutation_p.F163V|RP11-348M17.2_ENST00000521984.1_RNA	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	163					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCTGGTTAACTTTCCTATGGA	0.398000										TCGA Ovarian(5;0.080)			23	89					0	0	0.004656	0	0
TIMM8A	1678	broad.mit.edu	37	X	100603636	100603636	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:100603636G>C	ENST00000372902.3	-	1	548	c.17C>G	c.(16-18)tCt>tGt	p.S6C	TIMM8A_ENST00000480575.1_5'UTR	NM_004085.3	NP_004076.1	O60220	TIM8A_HUMAN	translocase of inner mitochondrial membrane 8 homolog A (yeast)	6					nervous system development|protein import into mitochondrial inner membrane|transmembrane transport	mitochondrial inner membrane|mitochondrial intermembrane space protein transporter complex	protein binding			endometrium(1)|lung(1)	2						CGCGGAGGAAGAGGAGGAGGA	0.607000													21	29					0	0	0.003330	0	0
GPR161	23432	broad.mit.edu	37	1	168054780	168054780	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:168054780C>T	ENST00000367838.1	-	8	1892	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	GPR161_ENST00000367836.1_Missense_Mutation_p.E395K|GPR161_ENST00000537209.1_Missense_Mutation_p.E547K|GPR161_ENST00000367835.1_Missense_Mutation_p.E527K|GPR161_ENST00000361697.2_Missense_Mutation_p.E527K|GPR161_ENST00000539777.1_Missense_Mutation_p.E449K|GPR161_ENST00000546300.1_Missense_Mutation_p.E413K|GPR161_ENST00000271357.5_Missense_Mutation_p.E527K	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	527					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CATCTCTGCTCGGCAGCTAAA	0.667000													17	81					0	0	0.004007	0	0
OR11A1	26531	broad.mit.edu	37	6	29394644	29394644	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:29394644A>G	ENST00000377149.1	-	5	1247	c.775T>C	c.(775-777)Ttt>Ctt	p.F259L	OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Missense_Mutation_p.F259L|OR11A1_ENST00000377148.1_Missense_Mutation_p.F259L			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						GCAACATAAAAGATCATGAGC	0.522000													15	89					0	0	0.003163	0	0
TBC1D9	23158	broad.mit.edu	37	4	141555214	141555214	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:141555214G>C	ENST00000442267.2	-	16	2708	c.2634C>G	c.(2632-2634)ctC>ctG	p.L878L		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	878						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)				CCCAAGGAAAGAGAAGAGCAA	0.522000													8	32					0	0	0.003080	0	0
SMG1	23049	broad.mit.edu	37	16	18856931	18856931	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:18856931C>G	ENST00000446231.2	-	39	6451	c.6039G>C	c.(6037-6039)ttG>ttC	p.L2013F	SMG1_ENST00000389467.3_Missense_Mutation_p.L2013F			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2013					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGGGCTTCATCAAAGCTGTGT	0.388000													32	150					0	0	0.003755	0	0
STEAP3	55240	broad.mit.edu	37	2	120003084	120003084	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:120003084G>C	ENST00000354888.5	+	3	516	c.12G>C	c.(10-12)gaG>gaC	p.E4D	STEAP3_ENST00000393106.2_Missense_Mutation_p.E4D|STEAP3_ENST00000450943.2_Missense_Mutation_p.E4D|STEAP3_ENST00000393107.2_Missense_Mutation_p.E4D|STEAP3_ENST00000393110.2_Missense_Mutation_p.E14D|STEAP3_ENST00000409811.1_Missense_Mutation_p.E4D|STEAP3_ENST00000425223.2_Missense_Mutation_p.E4D|STEAP3_ENST00000393108.2_Missense_Mutation_p.E4D|STEAP3-AS1_ENST00000454260.1_RNA	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	4					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						TGCCAGAAGAGATGGACAAGC	0.587000													5	55					0	0	0.001168	0	0
HYDIN	54768	broad.mit.edu	37	16	70843806	70843806	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:70843806C>T	ENST00000393567.2	-	85	14913	c.14763G>A	c.(14761-14763)ctG>ctA	p.L4921L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4921										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCGTGGCTTTCAGATAGAGCT	0.468000													196	479					0	0	0.003610	0	0
SHANK1	50944	broad.mit.edu	37	19	51165245	51165245	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:51165245G>A	ENST00000293441.1	-	23	6481	c.6463C>T	c.(6463-6465)Ctc>Ttc	p.L2155F	SHANK1_ENST00000391814.1_Missense_Mutation_p.L2163F|SHANK1_ENST00000359082.3_Missense_Mutation_p.L2146F|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391813.1_Missense_Mutation_p.L1542F	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2155	SAM.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AAGAATTTGAGAGCCCGGTCG	0.612000													26	89					0	0	0.005443	0	0
NIPAL2	79815	broad.mit.edu	37	8	99234791	99234791	+	Silent	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:99234791C>A	ENST00000341166.3	-	5	729	c.474G>T	c.(472-474)gtG>gtT	p.V158V	NIPAL2_ENST00000430223.2_Silent_p.V158V|NIPAL2_ENST00000520545.1_5'UTR	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	158						integral to membrane				cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						GAGCAAAGTTCACCAGTAAAT	0.363000													17	130					3.52763e-06	4.73461e-06	0.004990	1	0
IER3IP1	51124	broad.mit.edu	37	18	44702592	44702592	+	Silent	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:44702592G>T	ENST00000256433.3	-	1	153	c.57C>A	c.(55-57)atC>atA	p.I19I	IER3IP1_ENST00000588705.1_Silent_p.I19I	NM_016097.4	NP_057181.1	Q9Y5U9	IR3IP_HUMAN	immediate early response 3 interacting protein 1	19						endoplasmic reticulum membrane|Golgi apparatus|integral to membrane				large_intestine(1)	1						GCAGCACTGCGATGGCGTTGA	0.677000													6	16					3.59834e-05	4.78992e-05	0.001168	1	0
CARD11	84433	broad.mit.edu	37	7	2957020	2957020	+	Splice_Site	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:2957020C>G	ENST00000396946.4	-	20	3011		c.e20-1			NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11						positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCAGGGTGTTCTGAAATGAAT	0.562000			Mis		DLBCL								19	45					0	0	0.007413	0	0
STEAP1	26872	broad.mit.edu	37	7	89789150	89789150	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:89789150G>A	ENST00000297205.2	+	2	248	c.48G>A	c.(46-48)atG>atA	p.M16I	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	16					electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					TTTGGAAAATGAAGCCTAGGA	0.259000													10	105					0	0	0.008291	0	0
RRM2	6241	broad.mit.edu	37	2	10269373	10269373	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:10269373G>C	ENST00000360566.2	+	10	1501	c.1210G>C	c.(1210-1212)Gag>Cag	p.E404Q	RRM2_ENST00000304567.5_Missense_Mutation_p.E344Q	NM_001165931.1	NP_001159403.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	344					deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		TTTCAGAGTAGAGAACCCATT	0.378000													9	53					0	0	0.004482	0	0
ATP4B	496	broad.mit.edu	37	13	114309237	114309237	+	Missense_Mutation	SNP	C	C	T	rs142885298	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:114309237C>T	ENST00000335288.4	-	2	174	c.133G>A	c.(133-135)Gtg>Atg	p.V45M		NM_000705.3	NP_000696.1	P51164	ATP4B_HUMAN	ATPase, H+/K+ exchanging, beta polypeptide	45					ATP biosynthetic process	integral to membrane|plasma membrane	hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.171)		Rabeprazole(DB01129)	TAGAAGGCCACGTAGTACAGG	0.557000													34	51					0	0	0.002836	0	0
ELK4	2005	broad.mit.edu	37	1	205589767	205589767	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:205589767G>T	ENST00000357992.4	-	3	746	c.407C>A	c.(406-408)tCt>tAt	p.S136Y	ELK4_ENST00000468523.1_5'UTR|ELK4_ENST00000289703.4_Missense_Mutation_p.S136Y	NM_001973.3	NP_001964.2			ELK4, ETS-domain protein (SRF accessory protein 1)										SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			ATTGCGGCTAGAGGTCTTGGC	0.418000			T	SLC45A3	prostate								10	107					2.74318e-10	3.77856e-10	0.006214	1	0
CSMD2	114784	broad.mit.edu	37	1	33985159	33985159	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:33985159C>T	ENST00000373381.4	-	70	11031	c.10855G>A	c.(10855-10857)Gag>Aag	p.E3619K		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3475						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AACTCCGCCTCGCTGGCCATG	0.612000													44	178					0	0	0.002222	0	0
POTEA	340441	broad.mit.edu	37	8	43197332	43197332	+	RNA	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:43197332C>G	ENST00000522175.2	+	0	1085							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCTTACAGGTCAAAAGCCAAA	0.318000													4	44					0	0	0.001168	0	0
DEPDC4	120863	broad.mit.edu	37	12	100657378	100657378	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:100657378C>G	ENST00000416321.1	-	2	453	c.451G>C	c.(451-453)Gaa>Caa	p.E151Q		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	151	DEP.				intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						TTGGAATCTTCAAATTCTAAT	0.333000													18	39					0	0	0.004990	0	0
GFAP	2670	broad.mit.edu	37	17	42987985	42987985	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:42987985C>G	ENST00000253408.5	-	7	1234	c.1169G>C	c.(1168-1170)cGa>cCa	p.R390P	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000435360.2_Missense_Mutation_p.R390P|GFAP_ENST00000586793.1_Missense_Mutation_p.R390P	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	390	Tail.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				GTACTGACCTCGAATCTGCAG	0.622000													4	3					0	0	0.000248	0	0
ZNF532	55205	broad.mit.edu	37	18	56585882	56585882	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:56585882G>A	ENST00000336078.4	+	4	1139	c.363G>A	c.(361-363)ctG>ctA	p.L121L	ZNF532_ENST00000591083.1_Silent_p.L121L|ZNF532_ENST00000591230.1_Silent_p.L121L|ZNF532_ENST00000589288.1_Silent_p.L121L|ZNF532_ENST00000591808.1_Silent_p.L121L	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AGGTGACACTGAAAGACTCGA	0.493000													21	97					0	0	0.002299	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166844058	166844058	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:166844058C>T	ENST00000510118.1	-	18	1879	c.1539G>A	c.(1537-1539)ctG>ctA	p.L513L	RPS6KA2_ENST00000405189.3_Silent_p.L399L|RPS6KA2_ENST00000503859.1_Silent_p.L496L|RPS6KA2_ENST00000481261.2_Silent_p.L399L|RPS6KA2_ENST00000265678.4_Silent_p.L488L			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	488	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CACCACGCATCAGCTCCATTA	0.577000													14	45					0	0	0.002450	0	0
FEZF1	389549	broad.mit.edu	37	7	121943827	121943827	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:121943827G>C	ENST00000442488.2	-	1	732	c.665C>G	c.(664-666)tCc>tGc	p.S222C	FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.S222C|FEZF1_ENST00000427185.2_Missense_Mutation_p.S172C	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	222					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CTGAGCCTGGGACAGGTCTTT	0.512000													27	87					0	0	0.005443	0	0
RASA4CP	401331	broad.mit.edu	37	7	44073746	44073746	+	RNA	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:44073746G>A	ENST00000446874.1	-	0	366																											GACGGATGCAGAGCCCGGGAC	0.627000													3	17					0	0	0.004672	0	0
FN1	2335	broad.mit.edu	37	2	216273063	216273063	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:216273063C>A	ENST00000354785.4	-	16	2755	c.2386G>T	c.(2386-2388)Gat>Tat	p.D796Y	FN1_ENST00000446046.1_Missense_Mutation_p.D796Y|FN1_ENST00000323926.6_Missense_Mutation_p.D796Y|FN1_ENST00000356005.4_Missense_Mutation_p.D796Y|FN1_ENST00000359671.1_Missense_Mutation_p.D796Y|FN1_ENST00000346544.3_Missense_Mutation_p.D796Y|FN1_ENST00000421182.1_Missense_Mutation_p.D796Y|FN1_ENST00000357009.2_Missense_Mutation_p.D796Y|FN1_ENST00000357867.4_Missense_Mutation_p.D796Y|FN1_ENST00000443816.1_Missense_Mutation_p.D796Y|FN1_ENST00000336916.4_Missense_Mutation_p.D796Y|FN1_ENST00000345488.5_Missense_Mutation_p.D796Y|FN1_ENST00000432072.2_Missense_Mutation_p.D796Y			P02751	FINC_HUMAN	fibronectin 1	796	Fibronectin type-III 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCTCCCCATCCTCAGATATC	0.408000													24	67					1.22574e-08	1.66717e-08	0.002299	1	0
GIGYF1	64599	broad.mit.edu	37	7	100283618	100283618	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:100283618C>G	ENST00000275732.5	-	9	2242	c.1033G>C	c.(1033-1035)Gag>Cag	p.E345Q	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	345										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CCTTCCTCCTCTAGCCCTTCG	0.687000													12	32					0	0	0.001855	0	0
AHSA1	10598	broad.mit.edu	37	14	77934848	77934848	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:77934848G>A	ENST00000216479.3	+	8	1001	c.841G>A	c.(841-843)Gag>Aag	p.E281K	AHSA1_ENST00000555457.1_Intron|AHSA1_ENST00000535854.2_Missense_Mutation_p.E281K	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	281					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		ATCTTGGCCAGAGGGTAAGTA	0.343000													18	61					0	0	0.008871	0	0
KCNQ5	56479	broad.mit.edu	37	6	73751754	73751754	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:73751754G>A	ENST00000342056.2	+	3	983	c.585G>A	c.(583-585)ctG>ctA	p.L195L	KCNQ5_ENST00000402622.2_Silent_p.L195L|KCNQ5_ENST00000370398.1_Silent_p.L195L|KCNQ5_ENST00000403813.2_Silent_p.L195L|KCNQ5_ENST00000355635.3_Silent_p.L195L|KCNQ5_ENST00000370392.1_Silent_p.L195L|KCNQ5_ENST00000355194.4_Silent_p.L195L|KCNQ5_ENST00000414165.2_Silent_p.L195L	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	195					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		AAGGAAGACTGAGGTTTGCTC	0.438000													27	122					0	0	0.007291	0	0
ERCC6	2074	broad.mit.edu	37	10	50690842	50690842	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:50690842G>C	ENST00000355832.5	-	10	2138	c.2060C>G	c.(2059-2061)tCg>tGg	p.S687W	ERCC6_ENST00000542458.1_Missense_Mutation_p.S57W	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	687	Helicase ATP-binding.		S -> L (in CSB).		base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GTCAAAGAGCGACCACAGCTC	0.483000								Direct reversal of damage;Nucleotide excision repair (NER)					35	64					0	0	0.004878	0	0
EPHA10	284656	broad.mit.edu	37	1	38192827	38192827	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:38192827G>A	ENST00000373048.4	-	8	1718	c.1719C>T	c.(1717-1719)atC>atT	p.I573I	EPHA10_ENST00000540011.1_Silent_p.I68I|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Silent_p.I573I|EPHA10_ENST00000330210.7_Silent_p.I68I	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	573						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGAGGGCCGAGATGGTCACTA	0.637000													6	26					0	0	0.001168	0	0
MPP3	4356	broad.mit.edu	37	17	41879119	41879119	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:41879119C>G	ENST00000398393.1	-	18	2043	c.1783G>C	c.(1783-1785)Gag>Cag	p.E595Q	MPP3_ENST00000398389.4_Missense_Mutation_p.E570Q			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	570					signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	p.E570Q(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CTCAGCTTCTCTAAGACCACT	0.537000													46	99					0	0	0.003610	0	0
DDX10	1662	broad.mit.edu	37	11	108577549	108577549	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:108577549C>T	ENST00000526794.1	+	10	1339	c.1307C>T	c.(1306-1308)cCt>cTt	p.P436L	DDX10_ENST00000322536.3_Missense_Mutation_p.P436L			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	436	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		AAGAAAGTACCTGTGAAGGAA	0.373000			T	NUP98	AML*								27	154					0	0	0.005443	0	0
ACAP2	23527	broad.mit.edu	37	3	195102746	195102746	+	Silent	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:195102746C>A	ENST00000326793.6	-	3	347	c.117G>T	c.(115-117)gtG>gtT	p.V39V		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	39	BAR.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TACAAAGTTTCACAAGCTGAA	0.338000													13	24					1.15088e-07	1.55622e-07	0.004007	1	0
MTMR6	9107	broad.mit.edu	37	13	25826037	25826037	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:25826037G>A	ENST00000381801.5	-	12	2193	c.1432C>T	c.(1432-1434)Cac>Tac	p.H478Y	MTMR6_ENST00000540661.1_Missense_Mutation_p.H478Y	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	478	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		GTAAATCTGTGAGATTCGGAA	0.323000													29	204					0	0	0.008361	0	0
RHOT1	55288	broad.mit.edu	37	17	30519316	30519316	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:30519316C>G	ENST00000358365.3	+	9	864	c.637C>G	c.(637-639)Cag>Gag	p.Q213E	RHOT1_ENST00000354266.3_Missense_Mutation_p.Q192E|RHOT1_ENST00000333942.6_Missense_Mutation_p.Q213E|RHOT1_ENST00000545287.2_Missense_Mutation_p.Q213E|RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000581094.1_Missense_Mutation_p.Q213E|RHOT1_ENST00000394692.2_Missense_Mutation_p.Q213E|RHOT1_ENST00000583994.1_Missense_Mutation_p.Q86E	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	213	EF-hand 1.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				CAACTTCTTTCAGGTAATGGT	0.303000													13	59					0	0	0.001368	0	0
DNAH17	8632	broad.mit.edu	37	17	76451810	76451810	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:76451810G>A	ENST00000389840.5	-	63	10168	c.10044C>T	c.(10042-10044)ttC>ttT	p.F3348F	DNAH17_ENST00000585328.1_Silent_p.F3357F|DNAH17_ENST00000586052.1_Intron					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGTAGGACACGAAGGCAGAGA	0.522000													9	21					0	0	0.004482	0	0
TICRR	90381	broad.mit.edu	37	15	90168528	90168528	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:90168528G>C	ENST00000268138.7	+	20	5092	c.4987G>C	c.(4987-4989)Gat>Cat	p.D1663H	TICRR_ENST00000560985.1_Missense_Mutation_p.D1662H|KIF7_ENST00000558928.1_Intron					TOPBP1-interacting checkpoint and replication regulator																		ATTTCAAACAGATGGGGTTCC	0.592000													10	92					0	0	0.006214	0	0
FASTKD3	79072	broad.mit.edu	37	5	7861360	7861360	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:7861360C>G	ENST00000264669.5	-	6	1922	c.1786G>C	c.(1786-1788)Gat>Cat	p.D596H	FASTKD3_ENST00000513658.1_5'UTR|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	596	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTTGGACCATCAATACACAGT	0.294000													22	87					0	0	0.002780	0	0
PDE3A	5139	broad.mit.edu	37	12	20801786	20801786	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:20801786G>A	ENST00000359062.3	+	13	2770	c.2730G>A	c.(2728-2730)ctG>ctA	p.L910L	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	910	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CCACTGACCTGAAGAAACACT	0.363000													31	64					0	0	0.003271	0	0
DGKG	1608	broad.mit.edu	37	3	185879433	185879433	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:185879433T>C	ENST00000265022.3	-	24	2775	c.2236A>G	c.(2236-2238)Atg>Gtg	p.M746V	DGKG_ENST00000382164.4_Missense_Mutation_p.M707V|DGKG_ENST00000344484.4_Missense_Mutation_p.M721V|DGKG_ENST00000447054.1_5'UTR|DGKG_ENST00000544847.1_Missense_Mutation_p.M687V	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	746					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TCCACTTGCATTGGCAGCAGC	0.483000													8	65					0	0	0.006214	0	0
DMXL2	23312	broad.mit.edu	37	15	51772908	51772908	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:51772908C>G	ENST00000251076.5	-	24	6682	c.6395G>C	c.(6394-6396)aGa>aCa	p.R2132T	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.R1496T|DMXL2_ENST00000543779.2_Missense_Mutation_p.R2132T	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2132						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CTGCAATCTTCTTCTTTCTAT	0.423000													33	136					0	0	0.002836	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65349978	65349978	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:65349978C>T	ENST00000284037.5	+	21	3221	c.2832C>T	c.(2830-2832)ttC>ttT	p.F944F	ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380943.2_Silent_p.F944F|ERBB2IP_ENST00000508515.1_Silent_p.F944F|ERBB2IP_ENST00000380936.1_Silent_p.F944F|ERBB2IP_ENST00000380935.1_Silent_p.F944F|ERBB2IP_ENST00000380938.2_Silent_p.F944F|ERBB2IP_ENST00000380939.2_Silent_p.F944F|ERBB2IP_ENST00000511297.1_Silent_p.F940F|ERBB2IP_ENST00000506030.1_Silent_p.F944F	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	944					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AGGCAATTTTCAAGTTTGATT	0.403000													11	69					0	0	0.008291	0	0
C1orf35	79169	broad.mit.edu	37	1	228290054	228290054	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:228290054C>G	ENST00000272139.4	-	5	638	c.404G>C	c.(403-405)cGa>cCa	p.R135P	C1orf35_ENST00000472617.1_5'UTR	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN	chromosome 1 open reading frame 35	135										large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				CTTGTCCTCTCGGGACATCGC	0.692000													4	18					0	0	0.000602	0	0
FGFR3	2261	broad.mit.edu	37	4	1806119	1806119	+	Missense_Mutation	SNP	G	G	A	rs28931614		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:1806119G>A	ENST00000340107.4	+	9	1400	c.1144G>A	c.(1144-1146)Ggg>Agg	p.G382R	FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000440486.2_Missense_Mutation_p.G380R|FGFR3_ENST00000481110.2_Missense_Mutation_p.G380R|FGFR3_ENST00000260795.2_Missense_Mutation_p.G380R|FGFR3_ENST00000352904.1_Intron	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	380					bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.G380R(13)|p.G382R(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CCTCAGCTACGGGGTGGGCTT	0.672000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				167	154					0	0	0.003610	0	0
GPC1	2817	broad.mit.edu	37	2	241404929	241404929	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:241404929G>C	ENST00000264039.2	+	8	1556	c.1308G>C	c.(1306-1308)caG>caC	p.Q436H		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	436					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		TGGCCAACCAGATCAACAACC	0.627000													4	42					0	0	0.000248	0	0
THOC6	79228	broad.mit.edu	37	16	3077242	3077242	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:3077242C>T	ENST00000326266.8	+	11	1067	c.771C>T	c.(769-771)atC>atT	p.I257I	THOC6_ENST00000253952.9_Silent_p.I257I|THOC6_ENST00000574549.1_Silent_p.I233I|THOC6_ENST00000575576.1_Silent_p.I233I	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	257					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						TCTTCCCCATCCGGGCGCCAC	0.637000													38	87					0	0	0.004289	0	0
OR4D11	219986	broad.mit.edu	37	11	59271963	59271963	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:59271963C>T	ENST00000313253.1	+	1	915	c.915C>T	c.(913-915)ctC>ctT	p.L305L		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						AGAGAAGACTCGTGCCTTCTG	0.527000													11	53					0	0	0.008291	0	0
CCDC13	152206	broad.mit.edu	37	3	42799750	42799750	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:42799750T>C	ENST00000310232.6	-	2	171	c.88A>G	c.(88-90)Atg>Gtg	p.M30V	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	30										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TTTTTCTCCATCTGCTTCTGT	0.527000													3	108					0	0	0.000248	0	0
ZNF624	57547	broad.mit.edu	37	17	16525625	16525625	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:16525625G>C	ENST00000311331.7	-	6	2666	c.2575C>G	c.(2575-2577)Caa>Gaa	p.Q859E		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	859					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GTTTCTCTTTGATGTATTCTT	0.323000													21	69					0	0	0.002780	0	0
MIB2	142678	broad.mit.edu	37	1	1564037	1564037	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:1564037C>G	ENST00000357210.4	+	16	2527	c.2311C>G	c.(2311-2313)Cag>Gag	p.Q771E	MIB2_ENST00000505820.2_Missense_Mutation_p.Q828E|MIB2_ENST00000360522.4_Missense_Mutation_p.Q736E|MIB2_ENST00000378710.3_Missense_Mutation_p.Q735E|MIB2_ENST00000504599.1_Missense_Mutation_p.Q727E|MIB2_ENST00000518681.1_Missense_Mutation_p.Q763E|MIB2_ENST00000378712.1_Missense_Mutation_p.Q648E|MIB2_ENST00000520777.1_Missense_Mutation_p.Q824E|MIB2_ENST00000355826.5_Missense_Mutation_p.Q814E|MIB2_ENST00000378708.1_Missense_Mutation_p.Q677E	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	771					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCAGCGTCATCAGCTGCTGCC	0.701000													4	5					0	0	0.000248	0	0
ATG2A	23130	broad.mit.edu	37	11	64665196	64665196	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:64665196C>T	ENST00000421419.2	-	36	5134	c.5020G>A	c.(5020-5022)Gag>Aag	p.E1674K	ATG2A_ENST00000377264.3_Missense_Mutation_p.E1672K			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1672							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ATGGGGACCTCAGACGTGAAG	0.647000													12	48					0	0	0.001368	0	0
ZHX3	23051	broad.mit.edu	37	20	39832342	39832342	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:39832342G>A	ENST00000309060.3	-	4	1630	c.1215C>T	c.(1213-1215)ctC>ctT	p.L405L	ZHX3_ENST00000432768.2_Silent_p.L405L|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000544979.2_Silent_p.L405L|ZHX3_ENST00000540170.1_Silent_p.L405L|ZHX3_ENST00000559234.1_Silent_p.L405L|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Silent_p.L405L			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	405	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CGGCCTGGATGAGATGCTGGA	0.542000													24	100					0	0	0.003954	0	0
RYR1	6261	broad.mit.edu	37	19	39034011	39034011	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:39034011A>C	ENST00000355481.4	+	84	11830	c.11699A>C	c.(11698-11700)cAg>cCg	p.Q3900P	RYR1_ENST00000359596.3_Missense_Mutation_p.Q3905P|RYR1_ENST00000360985.3_Missense_Mutation_p.Q3900P	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3905					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTACGGACACAGACAGGGAAC	0.493000													28	153					0	0	0.007291	0	0
PLAA	9373	broad.mit.edu	37	9	26905860	26905860	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:26905860C>G	ENST00000397292.3	-	14	2454	c.2037G>C	c.(2035-2037)caG>caC	p.Q679H		NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	679	PUL.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		GTGATTCCCTCTGGGACATCA	0.443000													21	37					0	0	0.001523	0	0
OR4M2	390538	broad.mit.edu	37	15	22369079	22369079	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:22369079C>T	ENST00000332663.2	+	1	602	c.504C>T	c.(502-504)ttC>ttT	p.F168F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F168F(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GACTTCCTTTCTGTGGGCCCA	0.493000													68	406					0	0	0.003610	0	0
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:44083357C>T	ENST00000262726.7	-	11	1389	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K|EFCAB6_ENST00000358439.4_Intron	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308000													6	42					0	0	0.006214	0	0
EIF4H	7458	broad.mit.edu	37	7	73588773	73588773	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:73588773G>A	ENST00000265753.8	+	1	198		c.e1+1		EIF4H_ENST00000353999.6_Splice_Site	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H						interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			endometrium(1)|lung(2)|prostate(1)	4						GCGGCAGAGGGTGAGGCGGGC	0.746000													9	55					0	0	0.000978	0	0
KIAA1109	84162	broad.mit.edu	37	4	123270446	123270446	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:123270446G>T	ENST00000264501.4	+	78	13787	c.13414G>T	c.(13414-13416)Gat>Tat	p.D4472Y	KIAA1109_ENST00000388738.3_Missense_Mutation_p.D4472Y			Q2LD37	K1109_HUMAN	KIAA1109	4472					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGGGACCATAGATGTCAATGC	0.368000													19	27					2.4624e-09	3.36045e-09	0.008871	1	0
MAP4K3	8491	broad.mit.edu	37	2	39477777	39477777	+	Silent	SNP	A	A	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:39477777A>G	ENST00000263881.3	-	34	2991	c.2667T>C	c.(2665-2667)ggT>ggC	p.G889G	MAP4K3_ENST00000437545.1_Silent_p.G805G|MAP4K3_ENST00000341681.5_Silent_p.G868G|MAP4K3_ENST00000536018.1_Silent_p.G442G	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	889					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TGTTTTCATGACCCGCCAGGA	0.378000													7	35					0	0	0.003080	0	0
CCDC73	493860	broad.mit.edu	37	11	32636042	32636042	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:32636042G>T	ENST00000335185.5	-	16	1865	c.1822C>A	c.(1822-1824)Cca>Aca	p.P608T		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	608										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					CGAGTCCCTGGAAGCAATCTG	0.333000													7	36					8.12818e-05	0.000107757	0.001984	1	0
GPR110	266977	broad.mit.edu	37	6	46996735	46996735	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:46996735G>A	ENST00000371253.2	-	2	278	c.63C>T	c.(61-63)ttC>ttT	p.F21F	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000371243.2_Silent_p.F21F	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	21					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TCACCCCCAGGAAGCCACCGT	0.517000													9	51					0	0	0.000978	0	0
PABPN1	8106	broad.mit.edu	37	14	23792231	23792231	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:23792231G>A	ENST00000397276.2	+	3	503	c.490G>A	c.(490-492)Gag>Aag	p.E164K	BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.E191K|PABPN1_ENST00000556821.1_Missense_Mutation_p.E36K|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.E191K|PABPN1_ENST00000216727.4_Missense_Mutation_p.E164K|PABPN1_ENST00000557702.1_Missense_Mutation_p.E36K					poly(A) binding protein, nuclear 1											large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CATGTCCATTGAGGAGAAGAT	0.453000													62	132					0	0	0.003610	0	0
SUSD1	64420	broad.mit.edu	37	9	114904620	114904620	+	Missense_Mutation	SNP	G	G	A	rs113511367	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:114904620G>A	ENST00000374270.3	-	5	858	c.686C>T	c.(685-687)tCc>tTc	p.S229F	SUSD1_ENST00000374263.3_Missense_Mutation_p.S229F|SUSD1_ENST00000482851.1_5'UTR|SUSD1_ENST00000374264.2_Missense_Mutation_p.S229F	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	229	Sushi 1.					integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TAATTTTGGGGACTCCCATGT	0.418000													61	111					0	0	0.003610	0	0
PAX3	5077	broad.mit.edu	37	2	223065952	223065952	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:223065952G>C	ENST00000392069.2	-	10	1824	c.1459C>G	c.(1459-1461)Caa>Gaa	p.Q487E	PAX3_ENST00000350526.4_3'UTR|PAX3_ENST00000336840.6_Missense_Mutation_p.F404L|PAX3_ENST00000344493.4_3'UTR|PAX3_ENST00000392070.2_3'UTR	NM_001127366.2|NM_181458.3|NM_181459.3	NP_001120838.1|NP_852123.1|NP_852124.1	P23760	PAX3_HUMAN	paired box 3	0					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAAAGGATTTGAAACCAACTA	0.408000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						10	43					0	0	0.000978	0	0
PAPSS2	9060	broad.mit.edu	37	10	89501082	89501082	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:89501082C>T	ENST00000361175.4	+	9	1531	c.1162C>T	c.(1162-1164)Ctg>Ttg	p.L388L	PAPSS2_ENST00000427144.2_Silent_p.L392L|PAPSS2_ENST00000456849.1_Silent_p.L393L	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	388					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CCAATACCGTCTGACACCTCT	0.408000													9	76					0	0	0.006214	0	0
COPB2	9276	broad.mit.edu	37	3	139092111	139092111	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:139092111C>T	ENST00000333188.5	-	9	1219	c.1038G>A	c.(1036-1038)aaG>aaA	p.K346K	COPB2_ENST00000507777.1_Silent_p.K317K	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	346					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TGCCCATATCCTTTACTGCCA	0.438000													7	104					0	0	0.004482	0	0
ZNF804B	219578	broad.mit.edu	37	7	88966042	88966042	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:88966042C>G	ENST00000333190.4	+	4	4355	c.3746C>G	c.(3745-3747)tCg>tGg	p.S1249W		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1249						intracellular	zinc ion binding	p.S1249W(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATTTCATTTTCGACTCTGACT	0.458000										HNSCC(36;0.09)			14	169					0	0	0.001855	0	0
CUL9	23113	broad.mit.edu	37	6	43172787	43172787	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:43172787C>T	ENST00000252050.4	+	23	4650	c.4566C>T	c.(4564-4566)ttC>ttT	p.F1522F	CUL9_ENST00000354495.3_Silent_p.F1412F|CUL9_ENST00000372647.2_Silent_p.F1522F	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1522					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						GGGCAGCCTTCATGCTGGCTC	0.602000													26	59					0	0	0.004656	0	0
ZNF41	7592	broad.mit.edu	37	X	47307191	47307191	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:47307191C>T	ENST00000377065.4	-	5	2617	c.1978G>A	c.(1978-1980)Gag>Aag	p.E660K	ZNF41_ENST00000397050.2_Missense_Mutation_p.E670K|ZNF41_ENST00000313116.7_Missense_Mutation_p.E660K	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	702						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TTGGGCTTCTCACCTGTGTGG	0.438000													33	42					0	0	0.002836	0	0
ITGA2	3673	broad.mit.edu	37	5	52371064	52371064	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:52371064G>A	ENST00000296585.5	+	23	2898	c.2755G>A	c.(2755-2757)Gaa>Aaa	p.E919K		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	919					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AAGCCAAGAAGAAAACAAGGC	0.348000													15	45					0	0	0.003163	0	0
MAML3	55534	broad.mit.edu	37	4	140641044	140641044	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:140641044C>G	ENST00000509479.2	-	5	3706	c.2850G>C	c.(2848-2850)caG>caC	p.Q950H	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	946	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					CCATAAGGCTCTGCAGCCTTG	0.567000													42	96					0	0	0.002522	0	0
SMURF1	57154	broad.mit.edu	37	7	98649052	98649052	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:98649052G>C	ENST00000361125.1	-	8	1053	c.734C>G	c.(733-735)aCa>aGa	p.T245R	SMURF1_ENST00000361368.2_Missense_Mutation_p.T245R	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	245	WW 1.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			GCCCTGGACTGTTGTTCTTTG	0.473000													48	96					0	0	0.003610	0	0
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697000													13	21					0	0	0.002450	0	0
TTYH1	57348	broad.mit.edu	37	19	54933464	54933464	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:54933464G>C	ENST00000301194.4	+	4	640	c.518G>C	c.(517-519)cGa>cCa	p.R173P	TTYH1_ENST00000376530.3_Missense_Mutation_p.R173P|TTYH1_ENST00000376531.3_Missense_Mutation_p.R173P|TTYH1_ENST00000391739.3_Missense_Mutation_p.R222P			Q9H313	TTYH1_HUMAN	tweety family member 1	173					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		GCTGCCGCCCGAGGGGCTCGA	0.711000													4	9					0	0	0.000248	0	0
MLC1	23209	broad.mit.edu	37	22	50523236	50523236	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:50523236C>T	ENST00000311597.5	-	2	702	c.96G>A	c.(94-96)gcG>gcA	p.A32A	MLC1_ENST00000450140.2_Silent_p.A32A|MLC1_ENST00000535444.1_Intron|MLC1_ENST00000431262.2_Silent_p.A32A|MLC1_ENST00000395876.2_Silent_p.A32A|MLC1_ENST00000538737.1_Silent_p.A32A	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	32						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CGCTCGGCTTCGCGTCTGGGG	0.637000													22	54					0	0	0.001882	0	0
SMARCA4	6597	broad.mit.edu	37	19	11121153	11121153	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:11121153G>A	ENST00000358026.2	+	15	2504	c.2220G>A	c.(2218-2220)gaG>gaA	p.E740E	SMARCA4_ENST00000589677.1_Silent_p.E740E|SMARCA4_ENST00000450717.3_Silent_p.E740E|SMARCA4_ENST00000429416.3_Silent_p.E740E|SMARCA4_ENST00000344626.4_Silent_p.E740E|SMARCA4_ENST00000444061.3_Silent_p.E740E|SMARCA4_ENST00000590574.1_Silent_p.E740E|SMARCA4_ENST00000541122.2_Silent_p.E740E|SMARCA4_ENST00000413806.3_Silent_p.E740E	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	740					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTGTCACTGAGAGAGTGGACA	0.587000			"""F, N, Mis"""		NSCLC								32	76					0	0	0.002445	0	0
CDC45	8318	broad.mit.edu	37	22	19495340	19495340	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:19495340G>C	ENST00000407835.1	+	13	1264	c.1008G>C	c.(1006-1008)ttG>ttC	p.L336F	CDC45_ENST00000437685.2_Missense_Mutation_p.L368F|CDC45_ENST00000404724.3_Missense_Mutation_p.L290F|CDC45_ENST00000263201.1_Missense_Mutation_p.L336F			O75419	CDC45_HUMAN	cell division cycle 45	336					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						ACATCTCCTTGAAGGAGAATT	0.443000													50	95					0	0	0.003610	0	0
WDR6	11180	broad.mit.edu	37	3	49049462	49049462	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:49049462G>A	ENST00000395474.3	+	2	865	c.585G>A	c.(583-585)ctG>ctA	p.L195L	WDR6_ENST00000415265.2_Intron|WDR6_ENST00000608424.1_Silent_p.L165L|WDR6_ENST00000448293.1_Silent_p.L114L|WDR6_ENST00000489684.1_3'UTR	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	165					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CAGCCTGCCTGATTGGAGACG	0.567000													6	50					0	0	0.001168	0	0
MYH9	4627	broad.mit.edu	37	22	36745254	36745254	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:36745254G>C	ENST00000216181.5	-	2	258	c.28C>G	c.(28-30)Ctc>Gtc	p.L10V	MYH9_ENST00000401701.1_Missense_Mutation_p.L10V	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	10	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCCACATAGAGATACTTATCG	0.517000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				13	42					0	0	0.001855	0	0
ZNF33A	7581	broad.mit.edu	37	10	38306269	38306269	+	Missense_Mutation	SNP	G	G	A	rs582502		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:38306269G>A	ENST00000374618.3	+	4	383	c.205G>A	c.(205-207)Gag>Aag	p.E69K	ZNF33A_ENST00000458705.2_Missense_Mutation_p.E69K|ZNF33A_ENST00000469037.2_Missense_Mutation_p.E69K|ZNF33A_ENST00000432900.2_Missense_Mutation_p.E76K|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000307441.9_Missense_Mutation_p.E69K	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	69	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						ACAAGGAGAAGAGCCATGGAA	0.433000													54	143					0	0	0.003610	0	0
ABLIM1	3983	broad.mit.edu	37	10	116307536	116307536	+	Splice_Site	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:116307536C>G	ENST00000369252.4	-	5	795		c.e5-1		ABLIM1_ENST00000277895.5_Splice_Site|ABLIM1_ENST00000533213.2_Splice_Site	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1						axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CCGGCACAATCTGAAAAAGAG	0.522000													8	32					0	0	0.004482	0	0
CD4	920	broad.mit.edu	37	12	6924060	6924060	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:6924060C>T	ENST00000011653.4	+	5	767	c.509C>T	c.(508-510)tCc>tTc	p.S170F	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Missense_Mutation_p.S115F	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	170	Ig-like C2-type 1.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAGACCCTCTCCGTGTCTCAG	0.552000													22	49					0	0	0.001882	0	0
MUC15	143662	broad.mit.edu	37	11	26584757	26584757	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:26584757G>C	ENST00000436318.2	-	3	964	c.831C>G	c.(829-831)gtC>gtG	p.V277V	ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Intron|MUC15_ENST00000529533.1_Silent_p.V277V|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000455601.2_Silent_p.V250V|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000527569.1_Intron			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	250						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TAAGCAATGAGACACCCAGAA	0.348000													26	63					0	0	0.002096	0	0
KIF21A	55605	broad.mit.edu	37	12	39703448	39703448	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:39703448G>C	ENST00000395670.3	-	32	4639	c.4220C>G	c.(4219-4221)tCa>tGa	p.S1407*	KIF21A_ENST00000361418.5_Nonsense_Mutation_p.S1406*|KIF21A_ENST00000541463.2_Nonsense_Mutation_p.S1353*|KIF21A_ENST00000361961.3_Nonsense_Mutation_p.S1393*|KIF21A_ENST00000544797.2_Nonsense_Mutation_p.S1369*			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1406					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				ATAAGATGTTGATACAGTGAA	0.393000													12	49					0	0	0.001855	0	0
MIOS	54468	broad.mit.edu	37	7	7622975	7622975	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:7622975C>G	ENST00000340080.4	+	6	2041	c.1620C>G	c.(1618-1620)atC>atG	p.I540M	MIOS_ENST00000461907.2_3'UTR|MIOS_ENST00000405785.1_Missense_Mutation_p.I540M	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	540										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAATCCAAATCCTGAATGAAG	0.388000													12	52					0	0	0.001855	0	0
ZNF687	57592	broad.mit.edu	37	1	151261860	151261860	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:151261860C>T	ENST00000368879.2	+	5	2576	c.2478C>T	c.(2476-2478)atC>atT	p.I826I		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	826					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCAGGCTGATCTACAAGTGCG	0.622000													41	94					0	0	0.002852	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52719275	52719275	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:52719275C>T	ENST00000322088.6	+	8	999	c.941C>T	c.(940-942)tCa>tTa	p.S314L	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S259L|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.S135L	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	314	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GAAAACCTCTCAGCTGACTGT	0.547000			Mis		clear cell ovarian carcinoma								43	51					0	0	0.002222	0	0
IKZF2	22807	broad.mit.edu	37	2	213872434	213872434	+	Missense_Mutation	SNP	C	C	G	rs76325907		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:213872434C>G	ENST00000457361.1	-	8	1399	c.1231G>C	c.(1231-1233)Gaa>Caa	p.E411Q	IKZF2_ENST00000342002.2_Missense_Mutation_p.E417Q|IKZF2_ENST00000434687.1_Missense_Mutation_p.E411Q|IKZF2_ENST00000413091.3_3'UTR|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000421754.2_Missense_Mutation_p.E337Q|IKZF2_ENST00000374319.4_Missense_Mutation_p.E385Q|IKZF2_ENST00000374327.4_Missense_Mutation_p.E266Q|IKZF2_ENST00000451136.2_Missense_Mutation_p.E339Q	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TGGCTGCTTTCTGAGTCAGTG	0.507000													86	171					0	0	0.003610	0	0
NT5C1A	84618	broad.mit.edu	37	1	40131848	40131848	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:40131848C>G	ENST00000235628.1	-	2	195	c.196G>C	c.(196-198)Gag>Cag	p.E66Q		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	66					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGCTGCTCCTCGTCCATGCGA	0.582000													13	60					0	0	0.001855	0	0
VAMP5	10791	broad.mit.edu	37	2	85820206	85820206	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:85820206C>T	ENST00000306384.4	+	3	360	c.277C>T	c.(277-279)Ctc>Ttc	p.L93F		NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5	93					cell differentiation|vesicle-mediated transport	endomembrane system				NS(1)|large_intestine(3)|lung(1)	5						GGTCGTCTTTCTCCCTCAGAG	0.592000													15	65					0	0	0.003163	0	0
SLC45A3	85414	broad.mit.edu	37	1	205628644	205628644	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:205628644G>C	ENST00000367145.3	-	5	1675	c.1380C>G	c.(1378-1380)ctC>ctG	p.L460L	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	460					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AGGCCCCGCAGAGCGCGGGTG	0.677000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	24					0	0	0.003080	0	0
GAS2L2	246176	broad.mit.edu	37	17	34073061	34073061	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:34073061G>A	ENST00000254466.6	-	6	1482	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F	GAS2L2_ENST00000587565.1_Silent_p.F469F	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	485					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGGCTCCCTGAACTGGAAGA	0.642000													49	87					0	0	0.003610	0	0
LPAL2	80350	broad.mit.edu	37	6	160905157	160905157	+	RNA	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:160905157C>G	ENST00000335388.5	-	0	970					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		CGACTGCAGTCCCTTCTGTGT	0.532000													32	76					0	0	0.003271	0	0
SEPT2	4735	broad.mit.edu	37	2	242285646	242285646	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:242285646G>C	ENST00000391973.2	+	10	1436	c.908G>C	c.(907-909)aGa>aCa	p.R303T	SEPT2_ENST00000391971.2_Missense_Mutation_p.R303T|SEPT2_ENST00000402092.2_Missense_Mutation_p.R303T|SEPT2_ENST00000401990.1_Missense_Mutation_p.R313T|SEPT2_ENST00000360051.3_Missense_Mutation_p.R303T|SEPT2_ENST00000407971.1_Missense_Mutation_p.R263T	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	303					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		CGTTCTGAGAGACTCAAGAGA	0.517000													11	24					0	0	0.008291	0	0
PLCZ1	89869	broad.mit.edu	37	12	18876389	18876389	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:18876389C>T	ENST00000266505.7	-	4	486	c.223G>A	c.(223-225)Gag>Aag	p.E75K	RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000447925.2_Missense_Mutation_p.E73K|PLCZ1_ENST00000539875.1_Intron			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	75					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTGAAAATCTCAATAATTTCT	0.338000													16	65					0	0	0.004007	0	0
DDB2	1643	broad.mit.edu	37	11	47254409	47254409	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:47254409C>T	ENST00000256996.4	+	4	696	c.501C>T	c.(499-501)ctC>ctT	p.L167L	DDB2_ENST00000378600.3_Intron|DDB2_ENST00000378603.3_Silent_p.L103L|DDB2_ENST00000378601.3_Silent_p.L167L	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	167					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						TTAACCCTCTCAATACCAACC	0.498000			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum				10	112					0	0	0.000978	0	0
OSER1	51526	broad.mit.edu	37	20	42825868	42825868	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:42825868C>G	ENST00000372970.2	-	6	883	c.703G>C	c.(703-705)Gag>Cag	p.E235Q	OSER1_ENST00000255174.2_Missense_Mutation_p.E235Q					oxidative stress responsive serine-rich 1																		GAGTAGTCCTCAAGTGTGGAT	0.522000													10	60					0	0	0.006214	0	0
MAFA	389692	broad.mit.edu	37	8	144511689	144511689	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:144511689C>T	ENST00000333480.2	-	1	887	c.888G>A	c.(886-888)ctG>ctA	p.L296L	MAFA_ENST00000528185.1_5'UTR	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	296	Leucine-zipper.				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CCTCCAGCTTCAGCTGCTCCA	0.687000										HNSCC(29;0.082)			10	29					0	0	0.008291	0	0
SLC38A10	124565	broad.mit.edu	37	17	79263557	79263557	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:79263557G>A	ENST00000374759.3	-	2	534	c.151C>T	c.(151-153)Cac>Tac	p.H51Y	SLC38A10_ENST00000288439.5_Missense_Mutation_p.H51Y	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	51					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CACGACTGGTGCGTCATCCAT	0.632000													15	35					0	0	0.004007	0	0
METTL7A	25840	broad.mit.edu	37	12	51323817	51323817	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:51323817G>T	ENST00000548553.1	+	3	1600	c.619G>T	c.(619-621)Gag>Tag	p.E207*	METTL7A_ENST00000332160.4_Nonsense_Mutation_p.E207*			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	207						endoplasmic reticulum|lipid particle|membrane	methyltransferase activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						CCTGACCAGAGAGAGCTGGAA	0.572000													38	127					3.33393e-15	4.65547e-15	0.004878	1	0
CHKA	1119	broad.mit.edu	37	11	67888317	67888317	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:67888317C>T	ENST00000265689.4	-	1	354	c.328G>A	c.(328-330)Gag>Aag	p.E110K	CHKA_ENST00000356135.5_Missense_Mutation_p.E110K	NM_001277.2	NP_001268.2	P35790	CHKA_HUMAN	choline kinase alpha	110					lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	ATGTGGAACTCGTCCTCGCGG	0.766000													13	47					0	0	0.004007	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140750497	140750497	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140750497C>G	ENST00000576222.1	+	1	667	c.536C>G	c.(535-537)tCt>tGt	p.S179C	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_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)			CCGCACTTCTCTTTGATTCAG	0.542000													92	170					0	0	0.003610	0	0
PDCD1	5133	broad.mit.edu	37	2	242794494	242794494	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:242794494C>T	ENST00000334409.5	-	3	517	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	150					apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GTGGGCACTTCTGCCCTTCTC	0.677000													15	25					0	0	0.004990	0	0
ARAP3	64411	broad.mit.edu	37	5	141041670	141041670	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:141041670G>A	ENST00000239440.4	-	20	3018	c.2953C>T	c.(2953-2955)Cgt>Tgt	p.R985C	ARAP3_ENST00000513878.1_Missense_Mutation_p.R647C|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Intron	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	985	Rho-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TCGAGCTCACGAAAGAAGCGT	0.592000													22	103					0	0	0.003954	0	0
TLR7	51284	broad.mit.edu	37	X	12903875	12903875	+	Missense_Mutation	SNP	C	C	A	rs143823510		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:12903875C>A	ENST00000380659.3	+	3	387	c.248C>A	c.(247-249)gCg>gAg	p.A83E		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	83					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	ATCTCCCCAGCGTCCTTTCAC	0.483000													51	38					1.46156e-29	2.07661e-29	0.003610	1	0
ADRA2C	152	broad.mit.edu	37	4	3769370	3769370	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:3769370C>G	ENST00000330055.5	+	1	1246	c.1037C>G	c.(1036-1038)tCg>tGg	p.S346W	ADRA2C_ENST00000509482.1_Intron	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	346					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GGCCGCCTGTCGCGCGCCAGC	0.821000													5	2					0	0	0.001168	0	0
MAGI1	9223	broad.mit.edu	37	3	65342307	65342307	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:65342307C>T	ENST00000402939.2	-	23	4134	c.4135G>A	c.(4135-4137)Gag>Aag	p.E1379K	MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1408					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTCCTCTGCTCCAGGAGTCTC	0.726000													22	58					0	0	0.002299	0	0
C11orf30	56946	broad.mit.edu	37	11	76257029	76257029	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:76257029G>C	ENST00000529032.1	+	19	3462	c.3462G>C	c.(3460-3462)ttG>ttC	p.L1154F	C11orf30_ENST00000524490.1_Missense_Mutation_p.L1056F|C11orf30_ENST00000525919.1_Missense_Mutation_p.L1155F|C11orf30_ENST00000524767.1_Missense_Mutation_p.L1169F|C11orf30_ENST00000334736.3_Missense_Mutation_p.L1154F|C11orf30_ENST00000525038.1_Missense_Mutation_p.L1155F|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000533248.1_Missense_Mutation_p.L1063F			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1154					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						AAATGTCTTTGATGGAAGCTC	0.448000													26	59					0	0	0.003330	0	0
MGAT2	4247	broad.mit.edu	37	14	50088560	50088560	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:50088560G>A	ENST00000305386.2	+	1	1072	c.574G>A	c.(574-576)Gac>Aac	p.D192N	RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	192					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					TCCAGGTAGTGACCCTAGAGA	0.507000													45	121					0	0	0.002222	0	0
AUTS2	26053	broad.mit.edu	37	7	70228261	70228261	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:70228261C>G	ENST00000342771.4	+	7	1469	c.1148C>G	c.(1147-1149)tCt>tGt	p.S383C	AUTS2_ENST00000406775.2_Missense_Mutation_p.S383C	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	383	Ser-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GCCCACCCCTCTGCTCAGAGC	0.607000													10	106					0	0	0.001368	0	0
KCNT2	343450	broad.mit.edu	37	1	196251455	196251455	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:196251455G>C	ENST00000367433.5	-	23	2758	c.2657C>G	c.(2656-2658)aCg>aGg	p.T886R	KCNT2_ENST00000367431.4_Missense_Mutation_p.T836R|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.9_Missense_Mutation_p.T910R|KCNT2_ENST00000609185.1_Missense_Mutation_p.T836R|KCNT2_ENST00000451324.2_3'UTR	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	910						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.T910R(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAGAAGTCTCGTGATAGAAAT	0.308000													6	52					0	0	0.003080	0	0
BIN2	51411	broad.mit.edu	37	12	51686023	51686023	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:51686023C>G	ENST00000267012.4	-	10	928	c.867G>C	c.(865-867)gaG>gaC	p.E289D	BIN2_ENST00000452142.2_Missense_Mutation_p.E257D|BIN2_ENST00000604560.1_Missense_Mutation_p.E262D|BIN2_ENST00000544402.1_Missense_Mutation_p.E263D	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	289						cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CAGATTCACTCTCACTCTTCA	0.488000													37	83					0	0	0.004289	0	0
TRMT10B	158234	broad.mit.edu	37	9	37776350	37776350	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:37776350C>T	ENST00000297994.3	+	8	857	c.792C>T	c.(790-792)gtC>gtT	p.V264V	TRMT10B_ENST00000377753.2_Silent_p.V186V|TRMT10B_ENST00000377754.2_Silent_p.V169V|RP11-613M10.9_ENST00000540557.1_Intron|TRMT10B_ENST00000537911.1_Silent_p.V213V	NM_144964.2	NP_659401.2			tRNA methyltransferase 10 homolog B (S. cerevisiae)																		AATACATGGTCAGAAACCAGA	0.438000													11	12					0	0	0.008291	0	0
TDRD6	221400	broad.mit.edu	37	6	46660747	46660747	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:46660747C>G	ENST00000544460.1	+	1	5136	c.4882C>G	c.(4882-4884)Ccc>Gcc	p.P1628A	TDRD6_ENST00000316081.6_Missense_Mutation_p.P1628A	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1628					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TCTGTCGGTTCCCATGCAAGC	0.413000													22	67					0	0	0.001882	0	0
THSD7A	221981	broad.mit.edu	37	7	11468661	11468661	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:11468661C>G	ENST00000423059.4	-	14	3407	c.3156G>C	c.(3154-3156)ggG>ggC	p.G1052G	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A		TSP type-1 11.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCACACCACTCCCACAGGACT	0.517000										HNSCC(18;0.044)			95	283					0	0	0.003610	0	0
MRPS22	56945	broad.mit.edu	37	3	139063001	139063001	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:139063001G>C	ENST00000495075.1	+	3	565	c.133G>C	c.(133-135)Gag>Cag	p.E45Q	MRPS22_ENST00000465056.1_Missense_Mutation_p.E45Q|MRPS22_ENST00000310776.4_Missense_Mutation_p.E45Q			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	45						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						TTGCTCTTTCGAGATGGGGCT	0.627000													6	23					0	0	0.001168	0	0
PCDHB13	56123	broad.mit.edu	37	5	140596055	140596055	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140596055C>G	ENST00000341948.4	+	1	2547	c.2360C>G	c.(2359-2361)tCt>tGt	p.S787C		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		787					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAGGAAATTCTACCTTCCCC	0.428000													14	76					0	0	0.003163	0	0
ACPT	93650	broad.mit.edu	37	19	51293713	51293713	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:51293713C>G	ENST00000270593.1	+	1	42	c.42C>G	c.(40-42)ctC>ctG	p.L14L	ACPT_ENST00000270594.3_Silent_p.L14L	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	14						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTGGACCTCTCctgctgctgc	0.711000													4	17					0	0	0.000602	0	0
C11orf63	79864	broad.mit.edu	37	11	122805334	122805334	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:122805334C>T	ENST00000227349.2	+	5	1482	c.1185C>T	c.(1183-1185)ccC>ccT	p.P395P	C11orf63_ENST00000531316.1_Silent_p.P395P	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	395										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		ATAACCCTCCCAGGCAGCAAC	0.463000													8	32					0	0	0.003080	0	0
MTTP	4547	broad.mit.edu	37	4	100503108	100503108	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:100503108C>G	ENST00000457717.1	+	3	364	c.108C>G	c.(106-108)ctC>ctG	p.L36L	MTTP_ENST00000265517.5_Silent_p.L36L|MTTP_ENST00000422897.2_Silent_p.L36L|MTTP_ENST00000511045.1_Silent_p.L63L	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	36	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	p.L36L(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TGTACAAGCTCACGTACTCCA	0.458000													17	79					0	0	0.004990	0	0
C3orf70	285382	broad.mit.edu	37	3	184870595	184870595	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:184870595G>C	ENST00000335012.2	-	1	207	c.17C>G	c.(16-18)tCg>tGg	p.S6W		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	6								p.S6L(2)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						CGACGCCGGCGAGGCCGCCGC	0.716000													3	14					0	0	0.000248	0	0
HN1L	90861	broad.mit.edu	37	16	1741917	1741917	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:1741917G>A	ENST00000248098.3	+	3	324	c.267G>A	c.(265-267)ggG>ggA	p.G89G	HN1L_ENST00000382710.4_Silent_p.G77G|HN1L_ENST00000561516.1_Intron|HN1L_ENST00000569256.1_3'UTR|HN1L_ENST00000382711.5_Silent_p.G73G|HN1L_ENST00000569765.1_Intron|HN1L_ENST00000562684.1_Silent_p.G117G	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	89						cytoplasm|nucleus				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						CACCTGGAGGGAAGACCAGCG	0.542000													16	74					0	0	0.007413	0	0
IQCG	84223	broad.mit.edu	37	3	197652962	197652962	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:197652962C>T	ENST00000265239.6	-	7	1083	c.659G>A	c.(658-660)aGa>aAa	p.R220K	IQCG_ENST00000455191.1_Missense_Mutation_p.R220K|IQCG_ENST00000453254.1_Missense_Mutation_p.R220K	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	220										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TATCTGTTTTCTTCCTTTTTC	0.373000													24	43					0	0	0.002299	0	0
CRY2	1408	broad.mit.edu	37	11	45891150	45891150	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:45891150G>C	ENST00000443527.2	+	7	1061	c.1039G>C	c.(1039-1041)Gac>Cac	p.D347H	CRY2_ENST00000417225.2_Missense_Mutation_p.D265H	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	326	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						CCCCAGGTTTGACCGCATGGA	0.592000													42	100					0	0	0.007835	0	0
BCL3	602	broad.mit.edu	37	19	45262794	45262794	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:45262794C>T	ENST00000164227.5	+	9	1531	c.1287C>T	c.(1285-1287)ccC>ccT	p.P429P		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	429	Pro/Ser-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding	p.P421P(2)		kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CATCTCCACCCGCCTTCCTGC	0.682000			T	IGH@	CLL								19	345					0	0	0.001523	0	0
LCN2	3934	broad.mit.edu	37	9	130914210	130914210	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:130914210C>T	ENST00000540948.1	+	4	454	c.381C>T	c.(379-381)ctC>ctT	p.L127L	LCN2_ENST00000373017.1_Silent_p.L127L|LCN2_ENST00000372998.1_Silent_p.L129L|LCN2_ENST00000373013.2_Silent_p.L129L|LCN2_ENST00000470902.1_3'UTR|LCN2_ENST00000277480.2_Silent_p.L127L			P80188	NGAL_HUMAN	lipocalin 2	127					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity			central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						CGAGTTACCTCGTCCGAGTGG	0.567000													27	57					0	0	0.005443	0	0
GNPNAT1	64841	broad.mit.edu	37	14	53248520	53248520	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:53248520G>A	ENST00000216410.3	-	4	514	c.327C>T	c.(325-327)ttC>ttT	p.F109F	GNPNAT1_ENST00000554230.1_Silent_p.F38F	NM_198066.3	NP_932332.1	Q96EK6	GNA1_HUMAN	glucosamine-phosphate N-acetyltransferase 1	109	N-acetyltransferase.|Substrate binding.				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|endosome membrane|Golgi membrane	glucosamine 6-phosphate N-acetyltransferase activity			liver(1)|lung(1)|prostate(1)|skin(1)	4	Breast(41;0.176)					AGGAATGGATGAATTTATGTT	0.358000													30	106					0	0	0.007291	0	0
RABL3	285282	broad.mit.edu	37	3	120461334	120461334	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:120461334C>T	ENST00000273375.3	-	1	50	c.21G>A	c.(19-21)gtG>gtA	p.V7V	RABL3_ENST00000483733.1_Silent_p.V7V|RABL3_ENST00000491398.1_5'UTR	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	7	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		CCAGTACCTTCACCCGATCCA	0.567000													9	76					0	0	0.004482	0	0
CD109	135228	broad.mit.edu	37	6	74502507	74502507	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:74502507C>T	ENST00000437994.2	+	23	3291	c.2860C>T	c.(2860-2862)Ctt>Ttt	p.L954F	CD109_ENST00000474094.1_3'UTR|CD109_ENST00000422508.2_Missense_Mutation_p.L877F|CD109_ENST00000287097.5_Missense_Mutation_p.L954F	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	954						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGAAAAAGCTCTTTCATTTAT	0.303000													10	35					0	0	0.006214	0	0
MAPKAP1	79109	broad.mit.edu	37	9	128347847	128347847	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:128347847C>T	ENST00000265960.3	-	5	990	c.658G>A	c.(658-660)Gag>Aag	p.E220K	MAPKAP1_ENST00000394060.3_Missense_Mutation_p.E220K|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.E220K|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.E28K|MAPKAP1_ENST00000373497.5_Missense_Mutation_p.E28K|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.E28K|MAPKAP1_ENST00000373498.1_Missense_Mutation_p.E220K|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.E220K	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	220					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						AGCTTCGGCTCCCGTCCTTCG	0.542000													29	58					0	0	0.001786	0	0
SMARCA4	6597	broad.mit.edu	37	19	11121155	11121155	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:11121155G>A	ENST00000358026.2	+	15	2506	c.2222G>A	c.(2221-2223)aGa>aAa	p.R741K	SMARCA4_ENST00000589677.1_Missense_Mutation_p.R741K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R741K|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R741K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R741K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R741K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R741K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R741K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R741K	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	741					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GTCACTGAGAGAGTGGACAAG	0.582000			"""F, N, Mis"""		NSCLC								33	77					0	0	0.002836	0	0
TIMD4	91937	broad.mit.edu	37	5	156353320	156353320	+	Translation_Start_Site	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:156353320G>C	ENST00000406964.1	-	0	189				TIMD4_ENST00000274532.2_Missense_Mutation_p.S283C|TIMD4_ENST00000407087.3_Missense_Mutation_p.S255C			Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4							integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCTGTATCAGATGCTGGGAA	0.358000													9	31					0	0	0.008291	0	0
CLIC4	25932	broad.mit.edu	37	1	25167380	25167380	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:25167380G>A	ENST00000374379.4	+	6	911	c.714G>A	c.(712-714)aaG>aaA	p.K238K		NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	238	GST C-terminal.				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		CCAGTGATAAGGAGGTTGAAA	0.398000													34	78					0	0	0.004878	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	174135	174135	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:174135G>C	ENST00000283426.6	+	16	3306	c.3256G>C	c.(3256-3258)Gca>Cca	p.A1086P		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1086	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CATTCTCCAAGCAAGCTCGGC	0.582000													9	11					0	0	0.004482	0	0
PTPN3	5774	broad.mit.edu	37	9	112144707	112144707	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:112144707C>T	ENST00000412145.1	-	19	4563	c.2010G>A	c.(2008-2010)gtG>gtA	p.V670V	PTPN3_ENST00000394827.3_Silent_p.V269V|PTPN3_ENST00000262539.3_Silent_p.V647V|PTPN3_ENST00000446349.1_Silent_p.V625V|PTPN3_ENST00000374541.2_Silent_p.V801V	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	801	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGAGATGTGTCACTGTGTGTT	0.572000													14	34					0	0	0.002450	0	0
NGRN	51335	broad.mit.edu	37	15	90808999	90808999	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:90808999C>T	ENST00000379095.3	+	1	63	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	NGRN_ENST00000331497.3_3'UTR|RP11-697E2.6_ENST00000561573.1_Intron	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	neugrin, neurite outgrowth associated	19					neuron differentiation	extracellular region|nucleus				kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			CGCCGTCACTCGCTGTGGGTT	0.692000													12	36					0	0	0.002450	0	0
ERBB3	2065	broad.mit.edu	37	12	56481671	56481671	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:56481671T>C	ENST00000267101.3	+	6	1146	c.706T>C	c.(706-708)Tca>Cca	p.S236P	ERBB3_ENST00000415288.2_Missense_Mutation_p.S177P|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	236					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CGGGGGCTGCTCAGGCCCTCA	0.547000													49	140					0	0	0.003610	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44219877	44219877	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:44219877C>G	ENST00000371554.1	+	10	1818	c.1604C>G	c.(1603-1605)tCa>tGa	p.S535*	HSP90AB1_ENST00000353801.3_Nonsense_Mutation_p.S535*|HSP90AB1_ENST00000371646.5_Nonsense_Mutation_p.S535*			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	535					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGCCTGGTCTCAGTTACCAAG	0.517000													7	38					0	0	0.001984	0	0
ACBD7	414149	broad.mit.edu	37	10	15121001	15121001	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:15121001C>T	ENST00000356189.5	-	2	98	c.51G>A	c.(49-51)ctG>ctA	p.L17L	ACBD7_ENST00000496890.1_5'UTR	NM_001039844.2	NP_001034933.1	Q8N6N7	ACBD7_HUMAN	acyl-CoA binding domain containing 7	17	ACB.						fatty-acyl-CoA binding			endometrium(1)|lung(4)|prostate(1)	6						GTCTTGCTTTCAGCTTCCTCA	0.358000													33	93					0	0	0.007835	0	0
C20orf26	26074	broad.mit.edu	37	20	20177312	20177312	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:20177312C>G	ENST00000245957.5	+	16	1765	c.1689C>G	c.(1687-1689)ctC>ctG	p.L563L	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	563										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ACTTTGCCCTCAACCCCATTT	0.463000													34	97					0	0	0.002836	0	0
FUT11	170384	broad.mit.edu	37	10	75532615	75532615	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:75532615C>G	ENST00000372841.3	+	1	567	c.524C>G	c.(523-525)tCg>tGg	p.S175W	FUT11_ENST00000394790.1_Missense_Mutation_p.S175W|FUT11_ENST00000465695.1_3'UTR	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	175					protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					AGTCGCCACTCGGATTACCCG	0.687000													16	36					0	0	0.006122	0	0
SLC14A2	8170	broad.mit.edu	37	18	43221187	43221187	+	Silent	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:43221187C>A	ENST00000255226.6	+	8	1821	c.1005C>A	c.(1003-1005)gcC>gcA	p.A335A	SLC14A2_ENST00000586448.1_Silent_p.A335A	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	335						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGTCAGTGGCCACACCCTTCG	0.577000													14	136					6.81908e-15	9.5139e-15	0.002450	1	0
CLTC	1213	broad.mit.edu	37	17	57754433	57754433	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:57754433C>G	ENST00000269122.3	+	17	2954	c.2680C>G	c.(2680-2682)Ctt>Gtt	p.L894V	CLTC_ENST00000393043.1_Missense_Mutation_p.L894V|CLTC_ENST00000579456.1_Intron|CLTC_ENST00000579815.1_3'UTR	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	894	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GGAGAGATTTCTTCGTGAAAA	0.458000			T	"""ALK, TFE3"""	"""ALCL, renal """								43	58					0	0	0.002222	0	0
GZMA	3001	broad.mit.edu	37	5	54398580	54398580	+	Splice_Site	SNP	G	G	C	rs142297007	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:54398580G>C	ENST00000274306.6	+	1	105	c.70G>C	c.(70-72)Gat>Cat	p.D24H		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	24					cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				AATTCCTGAAGGTAAGACTGA	0.408000													21	81					0	0	0.001523	0	0
C1QL1	10882	broad.mit.edu	37	17	43037561	43037561	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:43037561C>A	ENST00000253407.3	-	2	794	c.772G>T	c.(772-774)Gac>Tac	p.D258Y		NM_006688.3	NP_006679.1	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	258	C1q.				locomotory behavior	collagen				lung(1)|prostate(1)	2		Prostate(33;0.155)				GGAGCTCAGTCGGAGTAGATG	0.657000													44	122					9.39024e-22	1.32722e-21	0.002222	1	0
ZNF433	163059	broad.mit.edu	37	19	12126042	12126042	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:12126042G>T	ENST00000419886.2	-	5	1826	c.1535C>A	c.(1534-1536)tCa>tAa	p.S512*	ZNF433_ENST00000344980.6_Nonsense_Mutation_p.S547*|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	547					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						TTGAAGCTGTGAGGCAGATCT	0.453000													30	112					2.4375e-19	3.43619e-19	0.007291	1	0
OR1G1	8390	broad.mit.edu	37	17	3030061	3030061	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:3030061G>C	ENST00000328890.2	-	1	814	c.785C>G	c.(784-786)tCt>tGt	p.S262C		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						GGTTGAGGGAGAACTGAAATC	0.483000													19	35					0	0	0.007413	0	0
DCAF4	26094	broad.mit.edu	37	14	73404761	73404761	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:73404761C>G	ENST00000555042.1	+	2	140	c.75C>G	c.(73-75)ctC>ctG	p.L25L	DCAF4_ENST00000510612.1_3'UTR|DCAF4_ENST00000394234.2_Intron|DCAF4_ENST00000353777.3_Silent_p.L25L|DCAF4_ENST00000358377.2_Silent_p.L25L|DCAF4_ENST00000509153.1_Silent_p.L25L|DCAF4_ENST00000553457.1_5'UTR	NM_001163508.1	NP_001156980.1	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	25						CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						GGTTCAGACTCCGTGATTCTG	0.488000													35	102					0	0	0.004878	0	0
PHF1	5252	broad.mit.edu	37	6	33383647	33383647	+	Missense_Mutation	SNP	G	G	C	rs138734488		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:33383647G>C	ENST00000374512.3	+	14	1641	c.1370G>C	c.(1369-1371)cGa>cCa	p.R457P	PHF1_ENST00000374516.3_Silent_p.S492S	NM_002636.4	NP_002627.1	O43189	PHF1_HUMAN	PHD finger protein 1	0					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CCCCCCACTCGATGACTGCCT	0.542000													32	105					0	0	0.003755	0	0
C8orf58	541565	broad.mit.edu	37	8	22459311	22459311	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:22459311G>C	ENST00000409586.3	+	3	723	c.603G>C	c.(601-603)caG>caC	p.Q201H	C8orf58_ENST00000289989.5_Missense_Mutation_p.Q201H	NM_001013842.2|NM_001198827.1|NM_173686.2	NP_001013864.1|NP_001185756.1|NP_775957.2	Q8NAV2	CH058_HUMAN	chromosome 8 open reading frame 58	201										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TGCTGGAGCAGATGGCAAGGC	0.662000													41	98					0	0	0.002222	0	0
RNF213	57674	broad.mit.edu	37	17	78359383	78359383	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:78359383C>G	ENST00000582970.1	+	61	14644	c.14501C>G	c.(14500-14502)tCc>tGc	p.S4834C	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.S2907C|RNF213_ENST00000508628.2_Missense_Mutation_p.S4883C|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000573394.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	1200										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTCTTTCTGTCCACATGGAAC	0.498000													10	44					0	0	0.001368	0	0
FAM161B	145483	broad.mit.edu	37	14	74411204	74411204	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:74411204G>C	ENST00000286544.3	-	3	1146	c.948C>G	c.(946-948)ctC>ctG	p.L316L	FAM161B_ENST00000534936.1_Silent_p.L253L	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						TCAAAGAAGAGAGGAGCAGTT	0.567000													26	74					0	0	0.004656	0	0
RASA1	5921	broad.mit.edu	37	5	86564633	86564633	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:86564633C>T	ENST00000274376.6	+	1	929	c.365C>T	c.(364-366)tCg>tTg	p.S122L		NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	122					cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	p.S122*(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CTGCCCACTTCGTTGCTTGCT	0.657000													6	27					0	0	0.004482	0	0
GCK	2645	broad.mit.edu	37	7	44193018	44193018	+	Silent	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:44193018C>A	ENST00000403799.3	-	2	559	c.90G>T	c.(88-90)ctG>ctT	p.L30L	GCK_ENST00000345378.2_Silent_p.L31L|GCK_ENST00000437084.1_Silent_p.L30L|GCK_ENST00000476008.1_5'UTR|GCK_ENST00000395796.3_Silent_p.L29L	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	30					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TCACCTTCTTCAGGTCCTCCT	0.632000													83	225					9.47799e-51	1.35495e-50	0.003610	1	0
PLEKHH2	130271	broad.mit.edu	37	2	43992600	43992600	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:43992600C>T	ENST00000282406.4	+	30	4455	c.4345C>T	c.(4345-4347)Cag>Tag	p.Q1449*		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1449	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CAACTTCCATCAGCAAAAGGC	0.468000													27	53					0	0	0.001786	0	0
UBQLN2	29978	broad.mit.edu	37	X	56590553	56590553	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:56590553G>C	ENST00000338222.5	+	1	528	c.247G>C	c.(247-249)Gat>Cat	p.D83H		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	83	Ubiquitin-like.					cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						AATCTTAAAAGATCAAGATAC	0.483000													11	25					0	0	0.008291	0	0
PYGM	5837	broad.mit.edu	37	11	64520647	64520647	+	Missense_Mutation	SNP	G	G	C	rs142207594		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:64520647G>C	ENST00000164139.3	-	12	1814	c.1416C>G	c.(1414-1416)ttC>ttG	p.F472L	PYGM_ENST00000377432.3_Missense_Mutation_p.F384L	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	472					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CCAGCTCATAGAAGTCTTTGA	0.577000													62	146					0	0	0.003610	0	0
FGL2	10875	broad.mit.edu	37	7	76828608	76828608	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:76828608T>G	ENST00000248598.5	-	1	535	c.503A>C	c.(502-504)aAc>aCc	p.N168T	CCDC146_ENST00000285871.4_Intron|CCDC146_ENST00000431197.1_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	168					signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						ATTTTCTATGTTGTTCATATT	0.388000													28	88					0	0	0.005443	0	0
ZNHIT2	741	broad.mit.edu	37	11	64884581	64884581	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:64884581C>T	ENST00000310597.4	-	1	589	c.545G>A	c.(544-546)gGa>gAa	p.G182E		NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	182							metal ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CGGGACATCTCCAAGAACCCG	0.726000													5	14					0	0	0.001984	0	0
FAM78B	149297	broad.mit.edu	37	1	166039523	166039523	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:166039523C>T	ENST00000338353.3	-	3	1330	c.741G>A	c.(739-741)tgG>tgA	p.W247*	FAM78B_ENST00000354422.3_Nonsense_Mutation_p.W247*			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	247										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					GCTTGGGCCTCCACATGAGGA	0.592000													24	106					0	0	0.003330	0	0
CDCA2	157313	broad.mit.edu	37	8	25343351	25343351	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:25343351C>T	ENST00000330560.3	+	11	1919	c.1442C>T	c.(1441-1443)tCa>tTa	p.S481L	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.S466L	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	481					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		GAGACCCTTTCAGGTAGTAAC	0.279000													11	30					0	0	0.008291	0	0
STUB1	10273	broad.mit.edu	37	16	731803	731803	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:731803G>C	ENST00000565677.1	+	4	926	c.319G>C	c.(319-321)Gag>Cag	p.E107Q	JMJD8_ENST00000412368.2_3'UTR|STUB1_ENST00000219548.4_Missense_Mutation_p.E179Q|JMJD8_ENST00000293882.4_3'UTR|STUB1_ENST00000564370.1_Missense_Mutation_p.E107Q|JMJD8_ENST00000454700.1_3'UTR|JMJD8_ENST00000609261.1_3'UTR|STUB1_ENST00000566181.2_3'UTR			Q9UNE7	CHIP_HUMAN	STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase	179					cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	6		Hepatocellular(780;0.00335)				GGAGCTGGAAGAGTGCCAGCG	0.627000													21	55					0	0	0.001882	0	0
GPR128	84873	broad.mit.edu	37	3	100413798	100413798	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:100413798G>A	ENST00000273352.3	+	16	2615	c.2347G>A	c.(2347-2349)Gag>Aag	p.E783K	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.E488K	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	783					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TCCGAGTACTGAGGAAATCAC	0.433000													18	69					0	0	0.004990	0	0
CCDC28B	79140	broad.mit.edu	37	1	32670262	32670262	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:32670262G>C	ENST00000421922.2	+	5	689	c.589G>C	c.(589-591)Gag>Cag	p.E197Q	CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Intron			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	0										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GTGTGTTCCTGAGAGGTCAGT	0.493000													39	174					0	0	0.005524	0	0
SLC50A1	55974	broad.mit.edu	37	1	155109406	155109406	+	Silent	SNP	T	T	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:155109406T>C	ENST00000368404.4	+	3	323	c.261T>C	c.(259-261)taT>taC	p.Y87Y	SLC50A1_ENST00000484157.1_Intron|SLC50A1_ENST00000303343.8_Silent_p.Y87Y|SLC50A1_ENST00000368405.3_Intron|SLC50A1_ENST00000368401.5_Intron	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1	87	MtN3/slv 1.				positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						TCTTGGCATATCTGCATTACT	0.562000													5	78					0	0	0.000602	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156912573	156912573	+	Splice_Site	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:156912573C>G	ENST00000368194.3	-	33	4275		c.e33-1		ARHGEF11_ENST00000487682.1_Splice_Site|ARHGEF11_ENST00000361409.2_Splice_Site|ARHGEF11_ENST00000315174.8_Splice_Site	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11						actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCCGTTTATCTGTGTGAGGA	0.542000													38	54					0	0	0.006999	0	0
SLC17A8	246213	broad.mit.edu	37	12	100797851	100797851	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:100797851G>A	ENST00000323346.5	+	9	1402	c.1089G>A	c.(1087-1089)atG>atA	p.M363I	SLC17A8_ENST00000392989.3_Missense_Mutation_p.M313I	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	363					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						ACATGGTTATGACAATCGTTG	0.428000													20	65					0	0	0.001523	0	0
CCDC144A	9720	broad.mit.edu	37	17	16612919	16612919	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:16612919G>C	ENST00000443444.2	+	5	1688	c.1548G>C	c.(1546-1548)ttG>ttC	p.L516F	RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.L516F|CCDC144A_ENST00000340621.5_Missense_Mutation_p.L515F|CCDC144A_ENST00000456009.1_Intron|CCDC144A_ENST00000399273.1_Missense_Mutation_p.L516F|CCDC144A_ENST00000360524.8_Missense_Mutation_p.L516F			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	516																	TCCTGGCTTTGAAGAAAGAAG	0.353000													61	104					0	0	0.003610	0	0
ZBED6CL	113763	broad.mit.edu	37	7	150028006	150028006	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:150028006G>A	ENST00000343855.4	+	1	1069	c.513G>A	c.(511-513)gaG>gaA	p.E171E	LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000323078.7_Intron	NM_138434.2	NP_612443.1			ZBED6 C-terminal like																		GCTTGCTGGAGAGCATGGGGC	0.632000													5	27					0	0	0.000602	0	0
WIPF1	7456	broad.mit.edu	37	2	175436406	175436406	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:175436406G>C	ENST00000392547.2	-	5	1226	c.1127C>G	c.(1126-1128)tCa>tGa	p.S376*	WIPF1_ENST00000392546.2_Nonsense_Mutation_p.S376*|WIPF1_ENST00000272746.5_Nonsense_Mutation_p.S376*|WIPF1_ENST00000409415.3_Nonsense_Mutation_p.S376*|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000359761.3_Nonsense_Mutation_p.S376*|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409891.1_Nonsense_Mutation_p.S376*	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	376	Pro-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						TGTCATACCTGATCGGCCTGG	0.562000													22	135					0	0	0.003954	0	0
FOXP2	93986	broad.mit.edu	37	7	114282626	114282626	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:114282626C>T	ENST00000393500.3	+	13	1532	c.712C>T	c.(712-714)Cat>Tat	p.H238Y	FOXP2_ENST00000408937.3_Missense_Mutation_p.H338Y|FOXP2_ENST00000350908.4_Missense_Mutation_p.H313Y|FOXP2_ENST00000378237.3_Missense_Mutation_p.H313Y|FOXP2_ENST00000393491.3_Missense_Mutation_p.H221Y|FOXP2_ENST00000393494.2_Missense_Mutation_p.H313Y|FOXP2_ENST00000360232.4_Missense_Mutation_p.H313Y|FOXP2_ENST00000393489.3_Missense_Mutation_p.H221Y|FOXP2_ENST00000393498.2_Missense_Mutation_p.H292Y|FOXP2_ENST00000403559.4_Missense_Mutation_p.H330Y|FOXP2_ENST00000390668.3_Missense_Mutation_p.H337Y			O15409	FOXP2_HUMAN	forkhead box P2	313	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						ACCAATAACTCATCATTCCAT	0.393000													20	61					0	0	0.002299	0	0
GPR37	2861	broad.mit.edu	37	7	124386968	124386968	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:124386968G>T	ENST00000303921.2	-	2	2103	c.1453C>A	c.(1453-1455)Caa>Aaa	p.Q485K		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	485						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTCTCTAGTTGAATCTGCCGT	0.433000													26	102					2.48779e-11	3.44725e-11	0.005443	1	0
TOP2A	7153	broad.mit.edu	37	17	38551779	38551779	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:38551779C>T	ENST00000423485.1	-	29	3891	c.3733G>A	c.(3733-3735)Gaa>Aaa	p.E1245K		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1245					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GGGCTTCCTTCAGTATTTTCA	0.343000													7	45					0	0	0.004482	0	0
RWDD1	51389	broad.mit.edu	37	6	116914217	116914217	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:116914217G>A	ENST00000466444.2	+	7	901	c.685G>A	c.(685-687)Gat>Aat	p.D229N	RWDD1_ENST00000487832.2_Missense_Mutation_p.D133N|RWDD1_ENST00000392526.1_Missense_Mutation_p.D133N	NM_015952.2	NP_057036.2	Q9H446	RWDD1_HUMAN	RWD domain containing 1	229							protein binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)	12		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)		TGATGAAGATGATCCAGACTA	0.468000													12	50					0	0	0.000978	0	0
EDC4	23644	broad.mit.edu	37	16	67918030	67918030	+	Silent	SNP	C	C	T	rs142793660	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:67918030C>T	ENST00000358933.5	+	29	4424	c.4185C>T	c.(4183-4185)ctC>ctT	p.L1395L	CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	1395					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TGCATGGCCTCGTGACCCCCA	0.627000											OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	20					0	0	0.000978	0	0
HECTD3	79654	broad.mit.edu	37	1	45472910	45472910	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:45472910C>T	ENST00000372172.4	-	11	1608	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K	HECTD3_ENST00000372168.3_Missense_Mutation_p.E123K	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	513	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					AGGGGCTTTTCATATTTGTCA	0.498000													20	101					0	0	0.002780	0	0
CHD8	57680	broad.mit.edu	37	14	21899134	21899134	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:21899134C>T	ENST00000399982.2	-	1	733	c.669G>A	c.(667-669)gtG>gtA	p.V223V	CHD8_ENST00000557364.1_Silent_p.V223V|CHD8_ENST00000430710.3_Intron|CHD8_ENST00000555962.1_Intron	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	223					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TGGCGGCCAACACTGTATTAC	0.557000													9	27					0	0	0.008291	0	0
ENTPD3	956	broad.mit.edu	37	3	40457535	40457535	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:40457535G>C	ENST00000301825.3	+	7	920	c.802G>C	c.(802-804)Gag>Cag	p.E268Q	ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.E268Q|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000456402.1_Missense_Mutation_p.E268Q	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	268						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		GAATGAGGCTGAGAAGAAGTT	0.552000													18	36					0	0	0.004990	0	0
SPTBN4	57731	broad.mit.edu	37	19	41029487	41029487	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:41029487G>C	ENST00000352632.3	+	17	3884	c.3798G>C	c.(3796-3798)ctG>ctC	p.L1266L	SPTBN4_ENST00000344104.3_Silent_p.L1266L|SPTBN4_ENST00000595535.1_Silent_p.L1266L|SPTBN4_ENST00000338932.3_Silent_p.L1266L|SPTBN4_ENST00000598249.1_Silent_p.L1266L			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1266					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGGCCTGCTGAGGCAGGGCA	0.632000													23	74					0	0	0.003330	0	0
SHROOM3	57619	broad.mit.edu	37	4	77357273	77357273	+	Missense_Mutation	SNP	G	G	A	rs142735873		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:77357273G>A	ENST00000296043.6	+	1	1021	c.68G>A	c.(67-69)gGa>gAa	p.G23E		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	23					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCCACCAAGGGAAGGTACATT	0.473000													54	143					0	0	0.003610	0	0
ENG	2022	broad.mit.edu	37	9	130580997	130580997	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:130580997G>A	ENST00000344849.3	-	11	1706	c.1426C>T	c.(1426-1428)Cag>Tag	p.Q476*	ENG_ENST00000480266.1_5'UTR|RP11-228B15.4_ENST00000425991.1_RNA|RP11-228B15.4_ENST00000439298.1_RNA|ENG_ENST00000373203.4_Nonsense_Mutation_p.Q476*			P17813	EGLN_HUMAN	endoglin	476	Ser/Thr-rich.				artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						CCAGGTACCTGCACAAAGCTC	0.612000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				52	79					0	0	0.003610	0	0
DOCK10	55619	broad.mit.edu	37	2	225642870	225642870	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:225642870G>C	ENST00000409592.3	-	51	5882	c.5769C>G	c.(5767-5769)atC>atG	p.I1923M	DOCK10_ENST00000258390.7_Missense_Mutation_p.I1929M			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1929	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TGGAATCCTGGATTATCTTCA	0.353000													8	30					0	0	0.004482	0	0
C17orf67	339210	broad.mit.edu	37	17	54893199	54893199	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:54893199G>A	ENST00000575658.1	-	5	1251	c.45C>T	c.(43-45)ctC>ctT	p.L15L	C17orf67_ENST00000397862.2_Silent_p.L15L|C17orf67_ENST00000397861.2_5'UTR	NM_001085430.2	NP_001078899.2	Q0P5P2	CQ067_HUMAN	chromosome 17 open reading frame 67	15						extracellular region				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					GCCTCTTGCTGAGTGAATCCT	0.517000													10	81					0	0	0.006214	0	0
PRX	57716	broad.mit.edu	37	19	40902007	40902007	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:40902007G>C	ENST00000324001.7	-	7	2522	c.2252C>G	c.(2251-2253)tCa>tGa	p.S751*	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	751	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCGAATCTCTGACACTTTCGG	0.592000													60	236					0	0	0.003610	0	0
GPR22	2845	broad.mit.edu	37	7	107115258	107115258	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:107115258G>A	ENST00000304402.4	+	3	2096	c.753G>A	c.(751-753)aaG>aaA	p.K251K	COG5_ENST00000297135.3_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000393603.2_Intron|COG5_ENST00000347053.3_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	251						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						CAGGGCAGAAGAAGAAAGCAA	0.363000													8	23					0	0	0.004482	0	0
CECR5	27440	broad.mit.edu	37	22	17624010	17624010	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:17624010C>T	ENST00000336737.4	-	5	574	c.549G>A	c.(547-549)agG>agA	p.R183R	CECR5_ENST00000399852.3_Silent_p.R46R|CECR5_ENST00000155674.5_Silent_p.R153R	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	183							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				GGAAGTCATTCCTCGGGAGGG	0.567000													16	52					0	0	0.004007	0	0
DMBT1	1755	broad.mit.edu	37	10	124380654	124380654	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:124380654C>T	ENST00000338354.3	+	41	5085	c.4979C>T	c.(4978-4980)tCc>tTc	p.S1660F	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.S1650F|DMBT1_ENST00000368909.3_Missense_Mutation_p.S1660F|DMBT1_ENST00000344338.3_Missense_Mutation_p.S1650F|DMBT1_ENST00000330163.4_Missense_Mutation_p.S1032F|DMBT1_ENST00000368956.2_Missense_Mutation_p.S1032F			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1660	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TATCGAGGCTCCTGGGGAACC	0.587000													101	231					0	0	0.003610	0	0
RDH13	112724	broad.mit.edu	37	19	55570559	55570559	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:55570559G>A	ENST00000415061.3	-	2	293	c.150C>T	c.(148-150)atC>atT	p.I50I	RDH13_ENST00000396247.3_5'UTR	NM_001145971.1	NP_001139443.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	50							binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	TCTGCTTCCCGATGCCTGTGT	0.572000													10	8					0	0	0.006214	0	0
TRPV6	55503	broad.mit.edu	37	7	142571845	142571845	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:142571845G>A	ENST00000359396.3	-	12	1748	c.1503C>T	c.(1501-1503)atC>atT	p.I501I		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	501					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CAAAGCCCAGGATGACCACAG	0.537000													6	24					0	0	0.004482	0	0
BBS1	582	broad.mit.edu	37	11	66278173	66278173	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:66278173G>A	ENST00000318312.7	+	1	94	c.43G>A	c.(43-45)Gag>Aag	p.E15K	BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000455748.2_Missense_Mutation_p.E15K|BBS1_ENST00000393994.2_Missense_Mutation_p.E15K|BBS1_ENST00000537537.1_5'UTR|CTD-3074O7.11_ENST00000419755.3_Intron	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	15					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						CTGCGGAGCTGAGAGGTGAAG	0.662000									Bardet-Biedl syndrome				9	32					0	0	0.008291	0	0
CYP4F3	4051	broad.mit.edu	37	19	15760750	15760750	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:15760750C>G	ENST00000221307.8	+	7	722	c.675C>G	c.(673-675)atC>atG	p.I225M	CYP4F3_ENST00000586182.2_Missense_Mutation_p.I225M|CYP4F3_ENST00000585846.1_Missense_Mutation_p.I225M|CYP4F3_ENST00000591058.1_Missense_Mutation_p.I225M	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3						leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TTGCCGCCATCTTGGAGCTCA	0.522000													63	221					0	0	0.003610	0	0
PHLDB2	90102	broad.mit.edu	37	3	111667878	111667878	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:111667878G>A	ENST00000431670.2	+	10	2998	c.2587G>A	c.(2587-2589)Gag>Aag	p.E863K	PHLDB2_ENST00000495180.1_Intron|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E847K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.E820K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E863K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.E820K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	863						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGTTGCCACTGAGCCTGCCAC	0.478000													16	39					0	0	0.004007	0	0
TRBV27	28560	broad.mit.edu	37	7	142423640	142423640	+	RNA	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:142423640C>T	ENST00000390399.3	+	0	339																											ATCCTGGAGTCGCCCAGCCCC	0.498000													16	57					0	0	0.004007	0	0
KLF11	8462	broad.mit.edu	37	2	10187909	10187909	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:10187909C>G	ENST00000535335.1	+	3	610	c.394C>G	c.(394-396)Ctg>Gtg	p.L132V	KLF11_ENST00000540845.1_Missense_Mutation_p.L132V|KLF11_ENST00000305883.1_Missense_Mutation_p.L149V	NM_001177718.1	NP_001171189.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	149					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		GGCCAGAGCTCTGAGCGGGGG	0.612000													23	51					0	0	0.002780	0	0
CNGB1	1258	broad.mit.edu	37	16	57957231	57957231	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:57957231G>C	ENST00000564448.1	-	18	1631	c.1571C>G	c.(1570-1572)cCa>cGa	p.P524R	CNGB1_ENST00000251102.8_Missense_Mutation_p.P530R			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	530					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGACTCTGCTGGTGACAACGC	0.582000													6	83					0	0	0.001984	0	0
PIK3R5	23533	broad.mit.edu	37	17	8794166	8794166	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:8794166C>G	ENST00000447110.1	-	7	670	c.546G>C	c.(544-546)ctG>ctC	p.L182L	PIK3R5_ENST00000581552.1_Silent_p.L182L|PIK3R5_ENST00000584803.1_Silent_p.L182L	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	182					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CGGGCGTACTCAGCTTATTGG	0.647000													9	29					0	0	0.004482	0	0
SVOP	55530	broad.mit.edu	37	12	109306319	109306319	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:109306319G>C	ENST00000299134.5	-	14	1442	c.1443C>G	c.(1441-1443)ctC>ctG	p.L481L		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						CACTATTCCTGAGAGCCAGAG	0.632000													67	185					0	0	0.003610	0	0
DPY19L3	147991	broad.mit.edu	37	19	32973094	32973094	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:32973094G>C	ENST00000342179.5	+	19	2314	c.2099G>C	c.(2098-2100)aGa>aCa	p.R700T	DPY19L3_ENST00000586987.1_3'UTR|DPY19L3_ENST00000392250.2_Missense_Mutation_p.R700T	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	700						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TACTTCACCAGAGTGTTCCAG	0.478000													114	199					0	0	0.003610	0	0
CLEC12A	160364	broad.mit.edu	37	12	10124258	10124258	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:10124258C>T	ENST00000304361.4	+	1	245	c.63C>T	c.(61-63)atC>atT	p.I21I	CLEC12A_ENST00000434319.2_Silent_p.I21I|CLEC12A_ENST00000350667.4_Silent_p.I21I|CLEC12A_ENST00000355690.4_Silent_p.I31I	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	21						integral to membrane|plasma membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						TGGAAAAAATCCCAGAAATTG	0.318000													18	73					0	0	0.004990	0	0
RIPK4	54101	broad.mit.edu	37	21	43171292	43171292	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr21:43171292C>G	ENST00000352483.2	-	3	652	c.588G>C	c.(586-588)aaG>aaC	p.K196N	RIPK4_ENST00000542057.1_Missense_Mutation_p.K133N|RIPK4_ENST00000332512.3_Missense_Mutation_p.K196N|RIPK4_ENST00000544709.1_Missense_Mutation_p.K133N			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	196						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGAGCCGGCTCTTCTCCCTGA	0.602000													7	79					0	0	0.001984	0	0
VPS13D	55187	broad.mit.edu	37	1	12336868	12336868	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:12336868G>C	ENST00000358136.3	+	19	3353	c.3223G>C	c.(3223-3225)Gag>Cag	p.E1075Q	VPS13D_ENST00000356315.4_Missense_Mutation_p.E1075Q	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1075					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCTTACCAAAGAGCAAGAGTC	0.438000											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	80					0	0	0.002836	0	0
LRRC49	54839	broad.mit.edu	37	15	71256227	71256227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:71256227C>T	ENST00000260382.5	+	9	1137	c.877C>T	c.(877-879)Cag>Tag	p.Q293*	LRRC49_ENST00000560158.2_Intron|LRRC49_ENST00000443425.2_Nonsense_Mutation_p.Q249*|LRRC49_ENST00000560369.1_Nonsense_Mutation_p.Q298*|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Nonsense_Mutation_p.Q283*|LRRC49_ENST00000560691.1_5'UTR	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	293	LRRCT.					cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						CACTGTCCTTCAGAATATGAT	0.463000													59	140					0	0	0.003610	0	0
ADAR	103	broad.mit.edu	37	1	154574803	154574803	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:154574803C>G	ENST00000368474.4	-	2	514	c.315G>C	c.(313-315)caG>caC	p.Q105H	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000471068.1_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.Q148H	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	105					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GGAACCCTCTCTGGAGCCCCT	0.557000													34	61					0	0	0.002836	0	0
CCDC135	84229	broad.mit.edu	37	16	57732921	57732921	+	Silent	SNP	C	C	T	rs116591936	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:57732921C>T	ENST00000360716.3	+	4	584	c.363C>T	c.(361-363)aaC>aaT	p.N121N	CCDC135_ENST00000336825.8_Silent_p.N121N|CCDC135_ENST00000394337.4_Silent_p.N121N|RP11-405F3.4_ENST00000563062.1_RNA			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	121						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						ACCCCCTGAACGAGTGTGAAG	0.647000													29	219					0	0	0.001786	0	0
RBL2	5934	broad.mit.edu	37	16	53498194	53498194	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:53498194C>G	ENST00000262133.6	+	12	1754	c.1617C>G	c.(1615-1617)gtC>gtG	p.V539V	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Silent_p.V323V	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	539	Domain A.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCCTTGAGGTCGTCACTTTTT	0.323000													3	54					0	0	0.004672	0	0
BCL2L14	79370	broad.mit.edu	37	12	12247765	12247765	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:12247765C>G	ENST00000586576.1	+	7	1093	c.945C>G	c.(943-945)ctC>ctG	p.L315L	BCL2L14_ENST00000308721.5_Silent_p.L282L|BCL2L14_ENST00000396369.1_Intron|BCL2L14_ENST00000589718.1_Silent_p.L282L|BCL2L14_ENST00000396367.1_Silent_p.L282L|BCL2L14_ENST00000266434.4_3'UTR			Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	282					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		CGGCCAAGCTCACAGCTATTG	0.552000													31	91					0	0	0.007291	0	0
EML5	161436	broad.mit.edu	37	14	89124543	89124543	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:89124543C>T	ENST00000554922.1	-	26	4113	c.3865G>A	c.(3865-3867)Gaa>Aaa	p.E1289K	EML5_ENST00000352093.5_Missense_Mutation_p.E1251K|EML5_ENST00000380664.5_Missense_Mutation_p.E1289K	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1289						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCATCTTCTTCAGAATCAATG	0.363000													27	77					0	0	0.005443	0	0
TTN	7273	broad.mit.edu	37	2	179455083	179455083	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:179455083C>T	ENST00000589042.1	-	304	61593	c.61369G>A	c.(61369-61371)Gag>Aag	p.E20457K	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E11584K|TTN_ENST00000591111.1_Missense_Mutation_p.E18816K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E11517K|TTN_ENST00000460472.2_Missense_Mutation_p.E11392K|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E17889K|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18816	Fibronectin type-III 48.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCTTGGCTCACCCTCTCCT	0.408000													14	103					0	0	0.001855	0	0
ZSCAN22	342945	broad.mit.edu	37	19	58850581	58850581	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:58850581G>C	ENST00000329665.4	+	3	1512	c.1365G>C	c.(1363-1365)caG>caC	p.Q455H		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	455					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		TTGAGCACCAGAGGATCCACA	0.542000													14	116					0	0	0.001855	0	0
KIF21B	23046	broad.mit.edu	37	1	200967564	200967564	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:200967564C>G	ENST00000332129.2	-	14	2341	c.2025G>C	c.(2023-2025)caG>caC	p.Q675H	KIF21B_ENST00000422435.2_Missense_Mutation_p.Q675H|KIF21B_ENST00000461742.2_Missense_Mutation_p.Q675H|KIF21B_ENST00000360529.5_Missense_Mutation_p.Q675H	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	675					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGATCTTGTTCTGCAGCAGAA	0.582000													28	130					0	0	0.001786	0	0
MRC2	9902	broad.mit.edu	37	17	60767311	60767311	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:60767311G>A	ENST00000303375.5	+	25	4032	c.3630G>A	c.(3628-3630)caG>caA	p.Q1210Q	MRC2_ENST00000446119.2_Silent_p.Q76Q	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1210	C-type lectin 7.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						TGGGCTGGCAGGACGGGGAGC	0.677000													5	38					0	0	0.000602	0	0
EDEM1	9695	broad.mit.edu	37	3	5246762	5246762	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:5246762G>C	ENST00000256497.4	+	6	1186	c.1053G>C	c.(1051-1053)gtG>gtC	p.V351V	EDEM1_ENST00000445686.1_Silent_p.V156V	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	351					ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		GCAATGTCGTGAACATTCAGA	0.517000													60	76					0	0	0.003610	0	0
MED12	9968	broad.mit.edu	37	X	70339888	70339888	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:70339888G>C	ENST00000333646.6	+	4	620	c.421G>C	c.(421-423)Gag>Cag	p.E141Q	MED12_ENST00000374102.1_Missense_Mutation_p.E141Q|MED12_ENST00000374080.3_Missense_Mutation_p.E141Q	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	141					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TAAGAAGGAAGAGGTGTTTGG	0.468000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						38	34					0	0	0.004289	0	0
UBR4	23352	broad.mit.edu	37	1	19494588	19494588	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:19494588G>T	ENST00000375267.2	-	28	3835	c.3832C>A	c.(3832-3834)Ctg>Atg	p.L1278M	UBR4_ENST00000375254.3_Missense_Mutation_p.L1278M|UBR4_ENST00000375217.2_Missense_Mutation_p.L1278M|UBR4_ENST00000375226.2_Missense_Mutation_p.L1278M			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1278					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCCAGGGGCAGACTTTGGCTA	0.512000													36	78					6.05902e-23	8.59375e-23	0.003755	1	0
ADCY2	108	broad.mit.edu	37	5	7789838	7789838	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:7789838G>A	ENST00000338316.4	+	20	2642	c.2553G>A	c.(2551-2553)ctG>ctA	p.L851L	ADCY2_ENST00000537121.1_Silent_p.L671L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	851					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TGGAGAACCTGAACCGCGTGC	0.527000													33	83					0	0	0.002096	0	0
MAP4K3	8491	broad.mit.edu	37	2	39505625	39505625	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:39505625G>A	ENST00000263881.3	-	24	2041	c.1717C>T	c.(1717-1719)Cag>Tag	p.Q573*	MAP4K3_ENST00000437545.1_Nonsense_Mutation_p.Q489*|MAP4K3_ENST00000341681.5_Nonsense_Mutation_p.Q552*|MAP4K3_ENST00000536018.1_Nonsense_Mutation_p.Q126*	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	573	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				ATCAAGTACTGATCTGAAATA	0.264000													6	37					0	0	0.001984	0	0
TTLL4	9654	broad.mit.edu	37	2	219603658	219603658	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:219603658G>A	ENST00000392102.1	+	3	1599	c.1259G>A	c.(1258-1260)aGc>aAc	p.S420N	TTLL4_ENST00000457313.1_Missense_Mutation_p.S255N|TTLL4_ENST00000442769.1_Missense_Mutation_p.S420N|TTLL4_ENST00000258398.4_Missense_Mutation_p.S420N	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	420					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AAGCGTATCAGCATTCACCTC	0.532000													29	95					0	0	0.007291	0	0
SATB2	23314	broad.mit.edu	37	2	200213701	200213701	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:200213701G>C	ENST00000443023.1	-	6	2184	c.719C>G	c.(718-720)tCt>tGt	p.S240C	SATB2_ENST00000260926.5_Missense_Mutation_p.S299C|SATB2_ENST00000417098.1_Missense_Mutation_p.S299C|SATB2_ENST00000428695.1_Missense_Mutation_p.S181C|SATB2_ENST00000457245.1_Missense_Mutation_p.S299C			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	299						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AAGCTGGGGAGAAAGAAGACC	0.507000													23	124					0	0	0.003330	0	0
ANKRD28	23243	broad.mit.edu	37	3	15762601	15762601	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:15762601G>C	ENST00000399451.2	-	8	1094	c.727C>G	c.(727-729)Ctt>Gtt	p.L243V	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.L276V	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	243						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GCTACATGAAGAGGTGTATTT	0.328000													59	471					0	0	0.003610	0	0
IPO8	10526	broad.mit.edu	37	12	30833556	30833556	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:30833556C>T	ENST00000256079.4	-	5	837	c.499G>A	c.(499-501)Gag>Aag	p.E167K		NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	167					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GGTTCTCTCTCTTCTGCTTTC	0.318000													19	136					0	0	0.007413	0	0
EIF2D	1939	broad.mit.edu	37	1	206772966	206772966	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:206772966C>T	ENST00000271764.2	-	10	1261	c.1053G>A	c.(1051-1053)agG>agA	p.R351R	EIF2D_ENST00000367114.3_Splice_Site_p.R227R	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	351					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						AAGATGTAATCCTAAAACCCA	0.532000													13	76					0	0	0.002450	0	0
LY6G6D	58530	broad.mit.edu	37	6	31685395	31685395	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:31685395C>G	ENST00000503322.1	+	6	966	c.963C>G	c.(961-963)gtC>gtG	p.V321V	LY6G6F_ENST00000556581.1_Silent_p.V321V|LY6G6D_ENST00000375825.3_Silent_p.V72V																							CAGCCTGCGTCGCAGCCCATC	0.577000													74	195					0	0	0.003610	0	0
ANGPT4	51378	broad.mit.edu	37	20	854974	854974	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:854974G>C	ENST00000381922.3	-	8	1406	c.1304C>G	c.(1303-1305)tCa>tGa	p.S435*	ANGPT4_ENST00000546022.1_Intron	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	435	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GTCGTTGTCTGAGTCAAGGGT	0.612000													26	90					0	0	0.005443	0	0
PMFBP1	83449	broad.mit.edu	37	16	72156877	72156877	+	Missense_Mutation	SNP	C	C	T	rs145484256		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:72156877C>T	ENST00000537465.1	-	19	2877	c.2719G>A	c.(2719-2721)Gag>Aag	p.E907K	PMFBP1_ENST00000537792.1_Missense_Mutation_p.E68K|PMFBP1_ENST00000237353.10_Missense_Mutation_p.E902K|PMFBP1_ENST00000355636.6_Missense_Mutation_p.E757K			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	907										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CCTAGTTTCTCATTGGCGACC	0.532000													25	80					0	0	0.004656	0	0
OR5T1	390155	broad.mit.edu	37	11	56043552	56043552	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:56043552G>A	ENST00000313033.2	+	1	524	c.438G>A	c.(436-438)gtG>gtA	p.V146V		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TGTATTCAGTGAGCATGTCAC	0.438000													64	200					0	0	0.003610	0	0
RASIP1	54922	broad.mit.edu	37	19	49238679	49238679	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:49238679G>A	ENST00000222145.4	-	4	1157	c.953C>T	c.(952-954)tCa>tTa	p.S318L	RASIP1_ENST00000594232.1_5'UTR	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	318					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CAAGTTTTCTGAGCGCTCCTT	0.701000													8	24					0	0	0.004482	0	0
CPNE1	8904	broad.mit.edu	37	20	34214245	34214245	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:34214245G>A	ENST00000317619.3	-	18	1926	c.1532C>T	c.(1531-1533)tCa>tTa	p.S511L	CPNE1_ENST00000397443.1_Missense_Mutation_p.S511L|CPNE1_ENST00000397442.1_Missense_Mutation_p.S455L|CPNE1_ENST00000397446.1_Missense_Mutation_p.S511L|CPNE1_ENST00000317677.5_Missense_Mutation_p.S516L|CPNE1_ENST00000352393.4_Missense_Mutation_p.S511L|CPNE1_ENST00000397445.1_Missense_Mutation_p.S511L			Q99829	CPNE1_HUMAN	copine I	511					lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCTGAAGTATGAGACCAGTTG	0.622000													43	141					0	0	0.002852	0	0
KRT10	3858	broad.mit.edu	37	17	38978738	38978738	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:38978738G>A	ENST00000269576.5	-	1	109	c.100C>T	c.(100-102)Cta>Tta	p.L34L	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	34	Gly-rich.|Head.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				GAAATTCTTAGGGATGACAct	0.562000													18	48					0	0	0.004990	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102493971	102493971	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:102493971G>C	ENST00000360184.4	+	47	9228	c.9064G>C	c.(9064-9066)Gaa>Caa	p.E3022Q		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3022	AAA 4 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGGTCTCTTTGAAGGAGACGA	0.542000													17	44					0	0	0.004007	0	0
LRRK1	79705	broad.mit.edu	37	15	101601442	101601442	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:101601442G>A	ENST00000284395.5	+	31	5137	c.4737G>A	c.(4735-4737)atG>atA	p.M1579I	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.M1582I			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1582					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCCTGGGATGAAGGTGAGCT	0.612000													13	41					0	0	0.002450	0	0
ALOX5	240	broad.mit.edu	37	10	45877975	45877975	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:45877975C>T	ENST00000374391.2	+	2	248	c.195C>T	c.(193-195)atC>atT	p.I65I	ALOX5_ENST00000542434.1_Silent_p.I65I	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	65	PLAT.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	TGGGCGAGATCCAGCTGGTCA	0.557000													17	53					0	0	0.007413	0	0
TARSL2	123283	broad.mit.edu	37	15	102255153	102255153	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:102255153C>G	ENST00000335968.3	-	4	796	c.580G>C	c.(580-582)Gaa>Caa	p.E194Q		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	194					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACCGTGCTTTCAGCCAGTTCC	0.403000													11	62					0	0	0.001368	0	0
NADK	65220	broad.mit.edu	37	1	1688587	1688588	+	Frame_Shift_Ins	INS	-	-	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:1688587_1688588insC	ENST00000344463.4	-	6	958_959	c.737_738insG	c.(736-738)ggtfs	p.G246fs	NADK_ENST00000341426.5_Intron|NADK_ENST00000492768.1_Intron|NADK_ENST00000378625.1_Frame_Shift_Ins_p.G246fs|NADK_ENST00000341991.3_Intron|NADK_ENST00000342348.5_Intron			O95544	NADK_HUMAN	NAD kinase	131					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CTCCATGTGCACCCCAGGCCCC	0.634													4	7	---	---	---	---					
OBSL1	23363	broad.mit.edu	37	2	220435169	220435170	+	Frame_Shift_Ins	INS	-	-	TGCT			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:220435169_220435170insTGCT	ENST00000404537.1	-	1	841_842	c.785_786insAGCA	c.(784-786)cacfs	p.H262fs	OBSL1_ENST00000603926.1_Frame_Shift_Ins_p.H262fs|OBSL1_ENST00000265318.4_Frame_Shift_Ins_p.H262fs|OBSL1_ENST00000373873.4_Frame_Shift_Ins_p.H262fs|INHA_ENST00000489456.1_Intron|OBSL1_ENST00000373876.1_Frame_Shift_Ins_p.H262fs|OBSL1_ENST00000289656.3_Intron	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	262	Ig-like 3.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GGAACTTGGCGTGCTTGCCCTC	0.723													19	86	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187510105	187510115	+	Frame_Shift_Del	DEL	CAGGCATGTCT	CAGGCATGTCT	-			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:187510105_187510115delCAGGCATGTCT	ENST00000441802.2	-	27	13607_13617	c.13398_13408delAGACATGCCTG	c.(13396-13410)agagacatgcctgccfs	p.RDMPA4466fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4466					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTACCCGCGGCAGGCATGTCTCTAGGAGGGT	0.502										HNSCC(5;0.00058)			16	295	---	---	---	---					
SLC12A2	6558	broad.mit.edu	37	5	127514329	127514330	+	Frame_Shift_Ins	INS	-	-	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:127514329_127514330insA	ENST00000262461.2	+	22	3237_3238	c.3048_3049insA	c.(3049-3051)aaafs	p.K1017fs	SLC12A2_ENST00000507791.1_3'UTR|SLC12A2_ENST00000343225.4_Frame_Shift_Ins_p.K1001fs	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1017					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	p.Q1016Q(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CACAGTTTCAGAAAAAACAAGG	0.312													8	77	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32523362	32523363	+	RNA	INS	-	-	GATA	rs142676080	by1000genomes	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:32523362_32523363insGATA	ENST00000411500.1	-	0	458					NR_001298.1																						AAAGCAATGTGGATAAAGGGAC	0.431													7	2	---	---	---	---					
EIF4G2	1982	broad.mit.edu	37	11	10823639	10823640	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:10823639_10823640delTG	ENST00000526148.1	-	13	1765_1766	c.1255_1256delCA	c.(1255-1257)caafs	p.Q419fs	EIF4G2_ENST00000339995.5_Frame_Shift_Del_p.Q419fs|EIF4G2_ENST00000525681.1_Frame_Shift_Del_p.Q419fs|EIF4G2_ENST00000396525.2_Frame_Shift_Del_p.Q419fs	NM_001172705.1	NP_001166176	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	419					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AAACTGCGATTGTGTGGGAGGC	0.431													15	109	---	---	---	---					
ARID2	196528	broad.mit.edu	37	12	46240637	46240638	+	Splice_Site	INS	-	-	GCTT			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:46240637_46240638insGCTT	ENST00000334344.6	+	12	1670		c.e12-1		ARID2_ENST00000422737.1_Splice_Site|ARID2_ENST00000479608.1_Splice_Site|ARID2_ENST00000444670.1_Splice_Site	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTTTTTCTTTAGCTTCCAGAGC	0.351			"""N, S, F"""		hepatocellular carcinoma								8	69	---	---	---	---					
HERC2P2	400322	broad.mit.edu	37	15	23312380	23312381	+	RNA	DEL	TT	TT	-			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:23312380_23312381delTT	ENST00000560464.1	-	0	3118																											TGTTAttttctttttttttttt	0.401													3	5	---	---	---	---					
TUSC5	286753	broad.mit.edu	37	17	1183661	1183661	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:1183661delC	ENST00000333813.3	+	1	705	c.366delC	c.(364-366)atcfs	p.I122fs		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	122					response to biotic stimulus	integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCAACCTCATCCCCCTCATCA	0.617													56	112	---	---	---	---					
QRICH2	84074	broad.mit.edu	37	17	74283954	74283955	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:74283954_74283955delCC	ENST00000262765.5	-	6	3503_3504	c.3324_3325delGG	c.(3322-3327)ctggaafs	p.E1109fs		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1109							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCTTCCCCTTCCAGGATCCTCT	0.559													34	96	---	---	---	---					
SLC14A1	6563	broad.mit.edu	37	18	43310353	43310353	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:43310353delC	ENST00000321925.4	+	3	300	c.68delC	c.(67-69)tcgfs	p.S23fs	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000436407.3_Frame_Shift_Del_p.S79fs|SLC14A1_ENST00000502059.2_Intron|SLC14A1_ENST00000589700.1_Frame_Shift_Del_p.S23fs|SLC14A1_ENST00000402943.2_Intron|SLC14A1_ENST00000415427.3_Frame_Shift_Del_p.S79fs|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000586142.1_Frame_Shift_Del_p.S23fs|SLC14A1_ENST00000535474.1_Intron	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	23						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						AACCAGGTTTCGCCATGTCAA	0.507													35	77	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44942739	44942739	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:44942739delC	ENST00000377967.4	+	23	3360	c.3319delC	c.(3319-3321)cctfs	p.P1107fs	KDM6A_ENST00000382899.4_Frame_Shift_Del_p.P1114fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.P1028fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.P1062fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1107	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GACTAAACTTCCTGCTTTTGT	0.403			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								29	10	---	---	---	---					
